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
SPDYA_chr2_28805834_28855610	28819841	AAAAAAAA others(19): Show AAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	332	0.0030	-26	c.294 others(41): Show c.294+737_294+762delAAAAAAAATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28819847	AAAATATA others(19): Show AAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA18955.hp2 NA18982.hp2 HG02735.hp1 NA18955.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0257 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0257	3	302	0.0099	-26	c.294 others(41): Show c.294+743_294+768delAATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28823702	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	60	0.0167	-26	c.380 others(43): Show c.380+1310_380+1335delTATATATATATATATATATATATATA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYA_chr2_28805834_28855610	28846722	TACACACA others(19): Show TACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0330 a0001c0003t0001g0330	1	47	0.0213	-26	c.851 others(43): Show c.851-3102_851-3077delCACACACACACACACACACACACACA	SPDYA	ENSG00000163806.16	transcript	ENST00000334056.10	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPDYE1_chr7_43992897_44015124	43994392	AAGAAAGA others(19): Show AAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02896.hp1 HG02897.hp1 others(5): Show HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03130.hp1 HG03516.hp1 NA18940.hp1 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0009 a0001c0001t0006g0029 a0001c0001t0006g0064 a0001c0001t0006g0009 a0001c0001t0006g0029 a0001c0001t0006g0064	8	363	0.0220	-26	c.-39 others(37): Show c.-3989_-3964delAGAAAGAAAGAAAGAAAGAAAGAAAG	SPDYE1	ENSG00000136206.5	transcript	ENST00000693451.1	protein_coding		3504		chr7	TogoVar
SPEF2_chr5_35612863_35819611	35661254	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp2 HG01071.hp2 others(1): Show HG00741.hp2 HG01070.hp2 HG01071.hp2 HG03927.hp2	a0007 a0020 a0007 a0020	a0007c0016 a0020c0053 a0007c0016 a0020c0053	a0007c0016t0001 a0020c0053t0001 a0007c0016t0001 a0020c0053t0001	a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 others(1): Show a0007c0016t0001g0127 a0007c0016t0001g0129 a0007c0016t0001g0130 a0020c0053t0001g0132	4	28	0.1429	-26	c.116 others(45): Show c.1167+2067_1167+2092delATATATATATATATATATATATATAT	SPEF2	ENSG00000152582.14	transcript	ENST00000356031.8	protein_coding	8/36		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPEM3_chr17_7423857_7437820	7424582	CCTTCCTT others(19): Show CCTTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0001 a0005c0005t0001g0001	1	352	0.0028	-26	c.-43 others(37): Show c.-4320_-4295delCTTCCTTCCTTCCTTCCTTCCTTCCT	SPEM3	ENSG00000283439.4	transcript	ENST00000636696.4	protein_coding		4274		chr17	TogoVar
SPHKAP_chr2_227974955_228186687	228031282	CTGAGATC others(19): Show CTGAGATCAAACTGCAAGGCAGCAGCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0248 a0003c0005t0001g0248	1	320	0.0031	-26	c.247 others(43): Show c.247-3765_247-3740delCGCTGCTGCCTTGCAGTTTGATCTCA	SPHKAP	ENSG00000153820.13	transcript	ENST00000392056.8	protein_coding	3/11			chr2	TogoVar
SPI1_chr11_47349860_47383547	47357130	TCACACAT others(19): Show TCACACATGCTCACACCTCATACCTCA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	385	0.0026	-26	c.494 others(43): Show c.494-1610_494-1585delTGAGGTATGAGGTGTGAGCATGTGTG	SPI1	ENSG00000066336.13	transcript	ENST00000378538.8	protein_coding	4/4			chr11	TogoVar
SPIDR_chr8_47255938_47741306	47287232	TAAAGATC others(19): Show TAAAGATCACAAGGCAAAGGGCAAAGC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0139 a0001c0011t0002g0139	1	214	0.0047	-26	c.256 others(43): Show c.256+3186_256+3211delAAAGCAAAGATCACAAGGCAAAGGGC	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47588026	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	39	0.0256	-26	c.109 others(45): Show c.1098-7749_1098-7724delTATATATATATATATATATATATATA	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIDR_chr8_47255938_47741306	47640841	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	3	0.3333	-26	c.154 others(47): Show c.1545-32941_1545-32916delTTTTTTTTTTTTTTTTTTTTTTTT TT	SPIDR	ENSG00000164808.17	transcript	ENST00000297423.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
SPIRE1_chr18_12441512_12663107	12461422	GTGTGTGT others(19): Show GTGTGTGTATGTATGTATATACATACA	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 NA20752.hp1 HG01069.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0309 a0001c0001t0010g0310 a0001c0001t0010g0309 a0001c0001t0010g0310	2	324	0.0062	-26	c.163 others(45): Show c.1638+1903_1638+1928delTGTATGTATATACATACATACACACA	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	12/16			chr18	TogoVar
SPOCK1_chr5_136970298_137504326	137292426	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG03041.hp2 NA21309.hp1 HG01071.hp2 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0105 a0001c0001t0003g0016 a0001c0001t0003g0081 a0001c0001t0002g0105 a0001c0001t0003g0016 a0001c0001t0003g0081	3	6	0.5000	-26	c.187 others(45): Show c.187-25397_187-25372delTTTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167078308	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18906.hp2 HG03195.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0048 a0001c0001t0005g0037 a0001c0001t0003g0048 a0001c0001t0005g0037	2	13	0.1538	-26	c.190 others(45): Show c.190-15797_190-15772delCACACACACACACACACACACACACA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167223084	GAATATAT others(19): Show GAATATATATTTTATATATGAATATAT	G G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0004 a0001c0009t0004	a0001c0009t0004g0011 a0001c0009t0004g0011	1	142	0.0070	-26	c.189 others(45): Show c.189+10875_189+10900delATATATTCATATATAAAATATATATT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	13980585	CACAACGT others(19): Show CACAACGTGCAGGTTTGTTACATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	222	0.0045	-26	c.239 others(43): Show c.239-2260_239-2235delCAACGTGCAGGTTTGTTACATGTGTA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14113568	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02055.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0163 a0001c0001t0001g0030 a0001c0001t0001g0163	2	3	0.6667	-26	c.677 others(45): Show c.677-21825_677-21800delTTTTTTTTTTTTTTTTTTTTTTTTTT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160405	ATATATAT others(19): Show ATATATATATATTTATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG02486.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0028 a0001c0003t0001g0101 a0001c0001t0001g0028 a0001c0003t0001g0101	2	222	0.0090	-26	c.825 others(45): Show c.825+24861_825+24886delATTTATATATATATTTATATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14160472	TATATATA others(19): Show TATATATATTTATATATATATATTTAC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01261.hp2 HG03486.hp2 HG01167.hp1 HG01261.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0005 a0001c0002t0003 a0001c0009t0001 a0001c0001t0005 a0001c0002t0003 a0001c0009t0001	a0001c0001t0005g0011 a0001c0002t0003g0182 a0001c0009t0001g0170 a0001c0001t0005g0011 a0001c0002t0003g0182 a0001c0009t0001g0170	3	221	0.0136	-26	c.825 others(45): Show c.825+24913_825+24938delTTATATATATATATTTACATATATAT	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON2_chr4_1161932_1177583	1172884	CCCTCCCC others(19): Show CCCTCCCCTCCCCTCCTCCCCTCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp1 HG02976.hp1 others(3): Show HG02109.hp1 HG02809.hp1 HG02976.hp1 HG03516.hp1 HG03654.hp2 NA18963.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0011 others(1): Show a0001c0001 a0002c0003 a0002c0011 a0003c0004	a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0011t0001 a0003c0004t0001	a0001c0001t0001g0001 a0002c0003t0001g0064 a0002c0011t0001g0018 others(1): Show a0001c0001t0001g0001 a0002c0003t0001g0064 a0002c0011t0001g0018 a0003c0004t0001g0030	6	112	0.0536	-26	c.-37 others(35): Show c.-370_-345delAGGGGAGGGGAGGAGGGGAGGGGAGG	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		302		chr4	TogoVar
SPOPL_chr2_138496770_138578547	138567372	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18974.hp2 HG02523.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0145 a0001c0001t0003g0187 a0001c0001t0003g0145 a0001c0001t0003g0187	2	18	0.1111	-26	c.103 others(45): Show c.1035-1527_1035-1502delGTGTGTGTGTGTGTGTGTGTGTGTGT	SPOPL	ENSG00000144228.9	transcript	ENST00000280098.9	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPRED1_chr15_38247836_38362249	38251697	AACACACA others(19): Show AACACACACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02451.hp2 HG02723.hp2 others(3): Show HG02280.hp2 HG02451.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0002t0012 a0001c0002t0036 a0001c0001t0010 a0001c0002t0012 a0001c0002t0036	a0001c0001t0010g0086 a0001c0002t0012g0006 a0001c0002t0012g0087 others(2): Show a0001c0001t0010g0086 a0001c0002t0012g0006 a0001c0002t0012g0087 a0001c0002t0012g0089 a0001c0002t0036g0088	6	58	0.1034	-26	c.-14 others(37): Show c.-1488_-1463delACACACACACACACACACACACACAC	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding		1138		chr15	TogoVar
SPRR5_chr1_152942206_152954255	152944618	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	434	0.0023	-26	c.-26 others(37): Show c.-2648_-2623delGTGTGTGTGTGTGTGTGTGTGTGTGC	SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding		2587		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359053	ATTATATA others(19): Show ATTATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0081 a0002c0002t0006g0081	1	343	0.0029	-26	c.56 others(37): Show c.5693_*5718delTTATATATATATATATATATATATAT	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4031		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00544.hp2 others(82): Show HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01123.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp2 HG01346.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02602.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG03209.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp2 HG03834.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18951.hp1 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18970.hp1 NA18976.hp1 NA18977.hp2 NA18978.hp2 NA18983.hp1 NA18986.hp1 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19055.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19077.hp1 NA19079.hp1 NA19081.hp2 NA19085.hp1 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0011	a0001c0001 a0002c0002 a0005c0005 others(2): Show a0001c0001 a0002c0002 a0005c0005 a0006c0010 a0011c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0002c0002t0001 a0005c0005t0001 a0006c0010t0001 a0011c0009t0001	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 others(34): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0009 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0029 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0098 a0001c0001t0002g0115 a0001c0001t0005g0003 a0001c0001t0005g0116 a0001c0001t0011g0028 a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0008 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0017 a0002c0002t0001g0024 a0002c0002t0001g0037 a0002c0002t0001g0053 a0002c0002t0001g0058 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0123 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0005c0005t0001g0002 a0005c0005t0001g0008 a0006c0010t0001g0011 a0011c0009t0001g0059	85	114	0.7456	-26	c.56 others(37): Show c.5694_*5719delTATATATATATATATATATATATATA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4032		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359085	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0045 a0002c0002t0004g0045	1	350	0.0029	-26	c.57 others(37): Show c.5725_*5750delATATATATATATATATATATATATAA	SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding		4063		chr1	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0058 a0001c0001t0023g0058	1	9	0.1111	-26	c.-28 others(47): Show c.-282+25697_-282+25722delATATATATATATATATATATATAT AT	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPTAN1_chr9_128547587_128638662	128562969	AAAATATA others(19): Show AAAATATATATATACATGTATGTGTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00438.hp1 others(111): Show HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00735.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01981.hp1 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA18988.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19063.hp2 NA19065.hp2 NA19070.hp1 NA19074.hp2 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0006	a0001c0002 a0001c0007 a0001c0018 others(9): Show a0001c0002 a0001c0007 a0001c0018 a0001c0019 a0001c0021 a0001c0023 a0001c0024 a0001c0025 a0001c0026 a0004c0015 a0005c0020 a0006c0031	a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 others(10): Show a0001c0002t0001 a0001c0002t0005 a0001c0007t0001 a0001c0018t0004 a0001c0019t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0004c0015t0001 a0005c0020t0001 a0006c0031t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 others(110): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0184 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0289 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0005g0181 a0001c0007t0001g0002 a0001c0007t0001g0009 a0001c0007t0001g0010 a0001c0007t0001g0011 a0001c0007t0001g0047 a0001c0018t0004g0193 a0001c0019t0001g0218 a0001c0021t0001g0304 a0001c0023t0001g0303 a0001c0024t0001g0196 a0001c0025t0001g0182 a0001c0026t0001g0209 a0004c0015t0001g0173 a0004c0015t0001g0185 a0005c0020t0001g0008 a0006c0031t0001g0225	114	290	0.3931	-26	c.-3- others(41): Show c.-3-3767_-3-3742delAATATATATATACATGTATGTGTATA	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(19): Show CATGTATGTGTATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp2 HG02145.hp2 others(9): Show HG01069.hp1 HG01167.hp2 HG02145.hp2 HG02451.hp1 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03453.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0010 a0001c0001 a0001c0006 a0001c0010	a0001c0001t0001 a0001c0006t0001 a0001c0010t0001 a0001c0001t0001 a0001c0006t0001 a0001c0010t0001	a0001c0001t0001g0298 a0001c0006t0001g0290 a0001c0006t0001g0291 others(9): Show a0001c0001t0001g0298 a0001c0006t0001g0290 a0001c0006t0001g0291 a0001c0006t0001g0292 a0001c0006t0001g0293 a0001c0006t0001g0294 a0001c0006t0001g0295 a0001c0006t0001g0296 a0001c0006t0001g0297 a0001c0010t0001g0299 a0001c0010t0001g0300 a0001c0010t0001g0301	12	168	0.0714	-26	c.-3- others(41): Show c.-3-3752_-3-3727delGTATGTGTATATATATATATATATAT	SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTBN1_chr2_54451327_54676446	54466561	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01952.hp2 HG01257.hp2 HG01258.hp1 HG01952.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266 a0001c0004t0004g0264 a0001c0004t0004g0265 a0001c0004t0004g0266	3	253	0.0119	-26	c.-48 others(45): Show c.-48+10064_-48+10089delAAAAAAAAAAAAAAAAAAAAAAAAAA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC3_chr20_13003972_13174103	13064281	TTTGTTTT others(19): Show TTTGTTTTGTTTTTGTTTTTGTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(107): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01975.hp2 HG02071.hp1 HG02080.hp1 HG02109.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0003 a0001c0004 others(3): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0004c0008 a0007c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(44): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0027 a0001c0001t0030 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0051 a0001c0001t0053 a0001c0001t0059 a0001c0001t0063 a0001c0003t0005 a0001c0003t0006 a0001c0003t0012 a0001c0003t0028 a0001c0003t0032 a0001c0003t0041 a0001c0003t0058 a0001c0003t0060 a0001c0004t0001 a0001c0004t0003 a0001c0004t0009 a0001c0004t0014 a0001c0004t0016 a0001c0004t0017 a0001c0004t0024 a0001c0004t0040 a0001c0004t0042 a0001c0004t0065 a0001c0009t0005 a0004c0008t0005 a0007c0017t0013	a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 others(107): Show a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0292 a0001c0001t0002g0003 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0003g0076 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0123 a0001c0001t0003g0126 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0135 a0001c0001t0003g0142 a0001c0001t0003g0157 a0001c0001t0004g0229 a0001c0001t0004g0247 a0001c0001t0004g0288 a0001c0001t0004g0291 a0001c0001t0005g0092 a0001c0001t0005g0128 a0001c0001t0007g0230 a0001c0001t0007g0269 a0001c0001t0007g0270 a0001c0001t0008g0005 a0001c0001t0008g0013 a0001c0001t0009g0111 a0001c0001t0009g0148 a0001c0001t0012g0259 a0001c0001t0013g0058 a0001c0001t0013g0059 a0001c0001t0013g0060 a0001c0001t0014g0116 a0001c0001t0014g0121 a0001c0001t0014g0146 a0001c0001t0015g0264 a0001c0001t0016g0136 a0001c0001t0018g0090 a0001c0001t0018g0104 a0001c0001t0019g0120 a0001c0001t0020g0138 a0001c0001t0022g0129 a0001c0001t0022g0130 a0001c0001t0027g0263 a0001c0001t0027g0268 a0001c0001t0030g0261 a0001c0001t0038g0198 a0001c0001t0039g0122 a0001c0001t0050g0101 a0001c0001t0051g0075 a0001c0001t0053g0250 a0001c0001t0059g0290 a0001c0001t0063g0232 a0001c0003t0005g0109 a0001c0003t0005g0132 a0001c0003t0006g0048 a0001c0003t0012g0258 a0001c0003t0012g0262 a0001c0003t0028g0249 a0001c0003t0032g0022 a0001c0003t0041g0107 a0001c0003t0058g0257 a0001c0003t0060g0267 a0001c0004t0001g0169 a0001c0004t0001g0176 a0001c0004t0001g0177 a0001c0004t0003g0094 a0001c0004t0003g0174 a0001c0004t0003g0175 a0001c0004t0009g0139 a0001c0004t0009g0170 a0001c0004t0009g0184 a0001c0004t0009g0207 a0001c0004t0009g0208 a0001c0004t0014g0137 a0001c0004t0016g0091 a0001c0004t0017g0105 a0001c0004t0017g0201 a0001c0004t0024g0178 a0001c0004t0024g0202 a0001c0004t0040g0206 a0001c0004t0042g0185 a0001c0004t0065g0284 a0001c0009t0005g0186 a0001c0009t0005g0204 a0004c0008t0005g0140 a0007c0017t0013g0049	110	288	0.3819	-26	c.304 others(43): Show c.304-7972_304-7947delGTTTTGTTTTTGTTTTTGTTTTTGTT	SPTLC3	ENSG00000172296.13	transcript	ENST00000399002.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
SPTSSB_chr3_161339798_161376517	161369288	TTCTTTCT others(19): Show TTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00738.hp2 HG01167.hp1 others(17): Show HG00597.hp2 HG00738.hp2 HG01167.hp1 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02074.hp1 HG02132.hp1 HG03710.hp2 NA18939.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp2 NA18972.hp2 NA18990.hp1 NA19055.hp2 NA19056.hp2 NA19075.hp1 NA19077.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0043 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0164 a0001c0001t0001g0169	20	393	0.0509	-26	c.-12 others(45): Show c.-126+2121_-126+2146delGAAAGAAAGAAAGAAAGAAAGAAAGA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SRBD1_chr2_45383680_45616267	45414721	CACACACA others(19): Show CACACACACAGTGTGTATATAGTATGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02976.hp2 HG02257.hp1 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0010 a0002c0002 a0002c0010	a0002c0002t0001 a0002c0010t0001 a0002c0002t0001 a0002c0010t0001	a0002c0002t0001g0230 a0002c0010t0001g0177 a0002c0002t0001g0230 a0002c0010t0001g0177	2	348	0.0057	-26	c.233 others(45): Show c.2334-1454_2334-1429delACATACTATATACACACTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45414897	ACACACAT others(19): Show ACACACATATAGTGTGTATATAGTATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02486.hp2 HG02922.hp1 others(5): Show HG02145.hp2 HG02486.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03516.hp1 NA19030.hp1 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0009 a0002c0004 a0010c0009	a0002c0004t0001 a0010c0009t0001 a0002c0004t0001 a0010c0009t0001	a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 others(5): Show a0002c0004t0001g0106 a0002c0004t0001g0107 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0113 a0002c0004t0001g0115 a0010c0009t0001g0108	8	356	0.0225	-26	c.233 others(45): Show c.2334-1630_2334-1605delCATACTATATACACACTATATGTGTG	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37368518	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02735.hp1 HG00735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0207 a0001c0001t0001g0142 a0001c0001t0001g0207	2	223	0.0090	-26	c.-17 others(45): Show c.-173+3256_-173+3281delTTTTTTTTTTTGTTTTTTTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31583626	AAACAAAA others(19): Show AAACAAAAAAAAAGCAAAAAAAAAACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01261.hp1 HG01346.hp2 others(12): Show HG01168.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG02148.hp2 HG02293.hp1 HG02895.hp2 HG03041.hp2 HG03927.hp2 HG04228.hp1 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0018 a0001c0001t0032 a0002c0002t0001	a0001c0001t0001g0138 a0001c0001t0001g0252 a0001c0001t0003g0001 others(9): Show a0001c0001t0001g0138 a0001c0001t0001g0252 a0001c0001t0003g0001 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0005g0160 a0001c0001t0009g0155 a0001c0001t0013g0159 a0001c0001t0013g0161 a0001c0001t0018g0197 a0001c0001t0032g0284 a0002c0002t0001g0124	15	383	0.0392	-26	c.-27 others(37): Show c.-2752_-2727delGGTTTTTTTTTTGCTTTTTTTTTGTT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding		2689		chr2	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp2 HG01261.hp1 others(9): Show HG01109.hp1 HG01257.hp2 HG01261.hp1 HG01978.hp2 HG02135.hp2 HG02300.hp1 HG02683.hp2 NA18946.hp1 NA18951.hp1 NA18971.hp2 NA18988.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0067 a0001c0001t0101 a0001c0001t0109 others(9): Show a0001c0001t0067 a0001c0001t0101 a0001c0001t0109 a0001c0001t0110 a0001c0001t0119 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0002t0001 a0001c0002t0026 a0001c0002t0035 a0001c0002t0055	a0001c0001t0067g0075 a0001c0001t0101g0166 a0001c0001t0109g0030 others(9): Show a0001c0001t0067g0075 a0001c0001t0101g0166 a0001c0001t0109g0030 a0001c0001t0110g0056 a0001c0001t0119g0041 a0001c0001t0125g0050 a0001c0001t0126g0043 a0001c0001t0127g0031 a0001c0002t0001g0099 a0001c0002t0026g0023 a0001c0002t0035g0027 a0001c0002t0055g0061	12	32	0.3750	-26	c.68- others(38): Show c.68-117_68-92delATATATATATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01952.hp1 HG01258.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0026 a0001c0001t0003g0022 a0001c0001t0001g0026 a0001c0001t0003g0022	2	7	0.2857	-26	c.67+ others(43): Show c.67+48159_67+48184delTTTTTTTTTTTTTTTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239178	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0053 a0001c0001t0036g0053	1	215	0.0047	-26	c.68- others(43): Show c.68-45600_68-45575delTATATATATATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	GTATATAT others(19): Show GTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0041 a0001c0001t0015g0041	1	67	0.0149	-26	c.423 others(43): Show c.423+7717_423+7742delTATATATATATATATATATATATATA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096956	TATATATA others(19): Show TATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01175.hp1 others(3): Show HG01069.hp1 HG01071.hp2 HG01175.hp1 HG03130.hp2 HG03486.hp1 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0005 a0001c0001t0015 a0001c0002t0010 others(1): Show a0001c0001t0005 a0001c0001t0015 a0001c0002t0010 a0002c0010t0001	a0001c0001t0005g0206 a0001c0001t0015g0154 a0001c0002t0010g0001 others(3): Show a0001c0001t0005g0206 a0001c0001t0015g0154 a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 a0002c0010t0001g0032	6	226	0.0265	-26	c.423 others(43): Show c.423+7698_423+7723delGTATATATATATATATATATATATAT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRP54_chr14_34977992_35034567	34995166	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTAGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00741.hp2 others(4): Show HG00099.hp1 HG00639.hp1 HG00741.hp2 HG01257.hp1 HG01433.hp2 HG02615.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0260 a0001c0001t0002g0261 others(3): Show a0001c0001t0002g0010 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264	7	394	0.0178	-26	c.-33 others(43): Show c.-33-1510_-33-1485delGTGTGTGTGTGTGTGTGTGTGTAGAG	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15			chr14	TogoVar
SRPK2_chr7_105111374_105393921	105170827	GAAAGAAA others(19): Show GAAAGAAAGGAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	280	0.0036	-26	c.230 others(43): Show c.230-1588_230-1563delTTCTTTCTTTCTTTCTTCCTTTCTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	3/15			chr7	TogoVar
SRPK2_chr7_105111374_105393921	105247515	AACACACA others(19): Show AACACACACACACATAAACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02965.hp1 HG03225.hp2 HG02055.hp2 HG02965.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116 a0001c0001t0001g0115 a0001c0001t0005g0114 a0001c0001t0005g0116	3	280	0.0107	-26	c.72- others(43): Show c.72-43756_72-43731delGTGTGTGTGTTTATGTGTGTGTGTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	2/15			chr7	TogoVar
SRPK3_chrX_153776041_153790730	153776516	GGGCAGGG others(19): Show GGGCAGGGCGGGGCTGGGGCGGGGCGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01261.hp1 HG02109.hp1 others(24): Show HG01243.hp1 HG01261.hp1 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03579.hp1 NA18947.hp2 NA18961.hp1 NA18975.hp2 NA19083.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0010t0002	a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0002t0001g0004 others(3): Show a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0002t0001g0004 a0001c0002t0002g0004 a0001c0002t0002g0030 a0001c0010t0002g0003	27	305	0.0885	-26	c.-45 others(37): Show c.-4570_-4545delGGCAGGGCGGGGCTGGGGCGGGGCGA	SRPK3	ENSG00000184343.11	transcript	ENST00000370101.8	protein_coding		4524		chrX	TogoVar
SRRM3_chr7_76196896_76292287	76261117	GGGGGACA others(19): Show GGGGGACATTGTTGTCCCCACAATTGT	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	322	0.0031	-26	c.575 others(41): Show c.575+222_576-202delTTGTTGTCCCCACAATTGTGGGGACA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRSF6_chr20_43452896_43469243	43466904	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02056.hp1 NA18943.hp1 others(5): Show HG00609.hp1 HG02056.hp1 NA18943.hp1 NA18989.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0001 a0001c0002t0002g0001	8	120	0.0667	-26	c.58 others(37): Show c.5842_*5867delGTGTGTGTGTGTGTGTGTGTGTGTGT	SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding		2662		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81686867	AAAAAAGA others(19): Show AAAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 HG03540.hp1 others(2): Show HG01243.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0007 a0001c0001t0059 a0001c0002t0001	a0001c0001t0001g0053 a0001c0001t0005g0045 a0001c0001t0007g0204 others(2): Show a0001c0001t0001g0053 a0001c0001t0005g0045 a0001c0001t0007g0204 a0001c0001t0059g0200 a0001c0002t0001g0022	5	88	0.0568	-26	c.63- others(43): Show c.63-36554_63-36529delCTTTTCTTTTCTTTTCTTTTCTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	1/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240065	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGCGC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03098.hp1 HG02895.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0161 a0001c0001t0005g0093 a0001c0001t0003g0161 a0001c0001t0005g0093	2	277	0.0072	-26	c.856 others(41): Show c.856+814_856+839delGCGCACACACACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar

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