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
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18977.hp2 HG02280.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0206 a0001c0001t0001g0021 a0001c0001t0001g0206	2	139	0.0144	27	c.372 others(46): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTTTT T	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89869045	A A	ACATATAT others(20): Show ACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0273 a0002c0002t0002g0273	1	322	0.0031	27	c.180 others(44): Show c.1807-522_1807-521insCATATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869049	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0015 a0001c0006t0001g0015	1	319	0.0031	27	c.180 others(44): Show c.1807-518_1807-517insTATATATATATATATATATATATATAT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	30	0.0333	27	c.180 others(44): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATA	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(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	30	0.0333	27	c.180 others(44): Show c.1807-513_1807-512insATATATATATATATATATATATATATA	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(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01123.hp1 HG01123.hp2 others(12): Show HG00438.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01261.hp1 HG01934.hp1 HG02148.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG03471.hp1 HG03688.hp1 HG03831.hp1 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0023 a0001c0001t0046 a0001c0014t0002	a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0076 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0076 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0212 a0001c0001t0001g0215 a0001c0001t0002g0075 a0001c0001t0002g0117 a0001c0001t0003g0049 a0001c0001t0004g0330 a0001c0001t0005g0004 a0001c0001t0023g0369 a0001c0001t0046g0105 a0001c0014t0002g0140	15	56	0.2679	27	c.-40 others(38): Show c.-4074_-4073insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		3906		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458646	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0011 a0011	a0011c0027 a0011c0027	a0011c0027t0001 a0011c0027t0001	a0011c0027t0001g0232 a0011c0027t0001g0232	1	330	0.0030	27	c.111 others(46): Show c.1113+5444_1113+5445insTTTCTTTCTTTCTTTCTTTCTTTCTT C	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468758	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0352 a0001c0001t0001g0352	1	357	0.0028	27	c.111 others(46): Show c.1114-9810_1114-9809insTTCTTTCTTTCTTTCTTTCTTTCTTC T	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(20): Show ATATATATATATATATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG01257.hp2 HG00323.hp2 HG01257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0210 a0002c0002t0001g0213	2	36	0.0556	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAATATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG03471.hp2 HG02572.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	36	0.0556	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG06807.hp2 HG01255.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0169 a0001c0001t0001g0170	2	36	0.0556	27	c.-12 others(38): Show c.-1200_-1199insAAAAAAAAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK3_chr4_166728384_167239494	166969486	T T	TTTAAATG others(20): Show TTTAAATGTGTTTAACACTTTTAACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01175.hp1 others(15): Show HG00558.hp2 HG00642.hp2 HG01175.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01943.hp2 HG01981.hp2 HG02071.hp1 HG02165.hp2 HG02273.hp2 HG03098.hp2 HG04184.hp1 NA18947.hp2 NA18954.hp1 NA18969.hp1 NA18971.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0053 others(15): Show a0001c0001t0001g0032 a0001c0001t0001g0038 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0002g0022 a0001c0001t0002g0044 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0003g0019 a0001c0001t0008g0098	18	121	0.1488	27	c.350 others(46): Show c.350+30836_350+30862dupTGTGTTAAAAGTGTTAAACACATTTA A	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	4/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167109487	T T	TATATTTA others(20): Show TATATTTATATATTTTATATAAAATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA20752.hp2 NA20805.hp2 HG03540.hp2 NA20752.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010	a0001c0001t0003g0047 a0001c0001t0009g0068 a0001c0001t0010g0067 a0001c0001t0003g0047 a0001c0001t0009g0068 a0001c0001t0010g0067	3	117	0.0256	27	c.190 others(46): Show c.190-46977_190-46951dupTATATTTTATATAAAATATATAAATA T	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167116585	T T	TGTATATA others(20): Show TGTATATATATACGTATATACTATATAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01071.hp2 others(30): Show HG00558.hp2 HG00738.hp2 HG01071.hp2 HG01175.hp2 HG01884.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp2 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02630.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp2 HG03209.hp2 HG03491.hp2 HG03540.hp2 NA18906.hp1 NA18947.hp1 NA18952.hp2 NA18954.hp2 NA18962.hp1 NA19002.hp1 NA19030.hp1 NA19030.hp2 NA19063.hp2 NA19070.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0002c0003 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0003 a0001c0004t0003 a0001c0004t0015 a0001c0005t0002 a0001c0005t0003 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0008t0003	a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0056 others(30): Show a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0142 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0110 a0001c0001t0002g0124 a0001c0001t0003g0017 a0001c0001t0003g0034 a0001c0001t0003g0047 a0001c0001t0003g0076 a0001c0001t0003g0133 a0001c0001t0004g0028 a0001c0002t0003g0035 a0001c0004t0003g0007 a0001c0004t0015g0001 a0001c0005t0002g0006 a0001c0005t0003g0005 a0002c0003t0002g0138 a0002c0003t0003g0043 a0002c0003t0003g0137 a0002c0003t0003g0140 a0002c0003t0006g0013 a0002c0003t0006g0040 a0002c0008t0003g0002	33	141	0.2340	27	c.190 others(46): Show c.190-54049_190-54048insGTATATAGTATATACGTATATATATA C	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPON1_chr11_13957723_14273133	14161086	A A	ATATATAT others(20): Show ATATATATCTATATATTTTATATATATC	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19066.hp1 NA19070.hp1 HG03041.hp1 NA19066.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0063 a0001c0002t0001g0018 a0001c0002t0001g0118 a0001c0001t0001g0063 a0001c0002t0001g0018 a0001c0002t0001g0118	3	138	0.0217	27	c.825 others(46): Show c.825+25590_825+25616dupTATATATATCTATATATCTATATATT T	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr11	TogoVar
SPON1_chr11_13957723_14273133	14272671	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0202 a0001c0001t0003g0202	1	67	0.0149	27	c.69 others(38): Show c.6984_*6985insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPON1	ENSG00000262655.4	transcript	ENST00000576479.4	protein_coding		4539		chr11	TogoVar
SPON2_chr4_1161932_1177583	1173569	C C	CTGGAAAC others(20): Show CTGGAAACAGAGCGGAGGAAGGAGCTCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	430	0.0023	27	c.-10 others(38): Show c.-1056_-1030dupCGAGCTCCTTCCTCCGCTCTGTTTCCA	SPON2	ENSG00000159674.12	transcript	ENST00000290902.10	protein_coding		987		chr4	TogoVar
SPPL3_chr12_120757510_120909358	120830365	T T	TGAGGGGG others(20): Show TGAGGGGGAGGGAGGGGGGAAGAAGGGG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00423.hp1 others(107): Show HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01361.hp2 HG01884.hp1 HG01943.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp1 NA18994.hp1 NA19000.hp1 NA19001.hp1 NA19004.hp1 NA19009.hp1 NA19011.hp1 NA19030.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19087.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0031 a0001c0001t0034 a0001c0001t0035 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0002t0005 a0001c0002t0006 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027	a0001c0001t0001g0145 a0001c0001t0002g0001 a0001c0001t0002g0221 others(106): Show a0001c0001t0001g0145 a0001c0001t0002g0001 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0003g0281 a0001c0001t0003g0284 a0001c0001t0003g0285 a0001c0001t0003g0289 a0001c0001t0003g0292 a0001c0001t0003g0297 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0003g0302 a0001c0001t0003g0308 a0001c0001t0005g0080 a0001c0001t0010g0006 a0001c0001t0010g0007 a0001c0001t0014g0004 a0001c0001t0014g0005 a0001c0001t0014g0093 a0001c0001t0023g0146 a0001c0001t0031g0219 a0001c0001t0034g0273 a0001c0001t0035g0252 a0001c0001t0037g0220 a0001c0001t0038g0263 a0001c0001t0039g0277 a0001c0002t0005g0072 a0001c0002t0005g0073 a0001c0002t0005g0074 a0001c0002t0005g0075 a0001c0002t0005g0077 a0001c0002t0005g0079 a0001c0002t0005g0085 a0001c0002t0005g0086 a0001c0002t0005g0088 a0001c0002t0005g0089 a0001c0002t0005g0090 a0001c0002t0005g0100 a0001c0002t0005g0101 a0001c0002t0005g0103 a0001c0002t0005g0105 a0001c0002t0005g0109 a0001c0002t0005g0110 a0001c0002t0005g0111 a0001c0002t0005g0112 a0001c0002t0005g0147 a0001c0002t0006g0071 a0001c0002t0006g0081 a0001c0002t0006g0082 a0001c0002t0006g0083 a0001c0002t0006g0084 a0001c0002t0006g0087 a0001c0002t0006g0092 a0001c0002t0006g0094 a0001c0002t0006g0095 a0001c0002t0006g0096 a0001c0002t0006g0097 a0001c0002t0006g0102 a0001c0002t0006g0107 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0150 a0001c0002t0025g0108 a0001c0002t0026g0091 a0001c0002t0027g0076	110	173	0.6358	27	c.24- others(44): Show c.24-19480_24-19479insCCCCTTCTTCCCCCCTCCCTCCCCCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830465	G G	GGGGGGAA others(20): Show GGGGGGAAGAAGGGGGAGGGGAAGGGGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0284 a0001c0001t0003g0284	1	317	0.0032	27	c.24- others(44): Show c.24-19580_24-19579insTCCCCTTCCCCTCCCCCTTCTTCCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830476	G G	GGGGGAGG others(20): Show GGGGGAGGGGAAGGGGAGGGGGGAAGAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0232 a0001c0001t0002g0232	1	318	0.0031	27	c.24- others(44): Show c.24-19591_24-19590insTTCTTCCCCCCTCCCCTTCCCCTCCCC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPPL3_chr12_120757510_120909358	120830606	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	314	0.0032	27	c.24- others(44): Show c.24-19721_24-19720insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10			chr12	TogoVar
SPRED1_chr15_38247836_38362249	38336439	A A	ATTATATA others(20): Show ATTATATATATGTTATATATATAATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02922.hp1 others(2): Show HG02451.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0036 a0001c0002t0012 a0001c0002t0036	a0001c0002t0012g0006 a0001c0002t0012g0087 a0001c0002t0012g0089 others(1): Show a0001c0002t0012g0006 a0001c0002t0012g0087 a0001c0002t0012g0089 a0001c0002t0036g0088	5	376	0.0133	27	c.424 others(44): Show c.424-3276_424-3250dupAATATTTTATATATATGTTATATATAT	SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED3_chr19_38383697_38404587	38397903	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0025 a0001c0001t0025g0025	1	251	0.0040	27	c.17 others(38): Show c.1773_*1774insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SPRED3	ENSG00000188766.13	transcript	ENST00000691638.1	protein_coding	6/6	1774	INFO_REALIGN_3_PRIME	chr19	TogoVar
SPRING1_chr12_116705171_116743069	116739444	T T	TATTCTAA others(20): Show TATTCTAATGGGGAGGACAAATCATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	360	0.0028	27	c.-15 others(38): Show c.-1571_-1545dupTTTATGATTTGTCCTCCCCATTAGAAT	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding		1376		chr12	TogoVar
SPRY3_chrX_155607586_155787459	155616100	G G	GTCTCTCT others(20): Show GTCTCTCTCCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0008	a0001c0004t0008g0100 a0001c0004t0008g0100	1	200	0.0050	27	c.-28 others(46): Show c.-282+3461_-282+3462insCTCTCTCTCTCTCTCTCTCTCTCTCT C	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155616130	C C	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01517.hp1 HG02004.hp1 others(10): Show HG01433.hp1 HG01517.hp1 HG02004.hp1 HG02602.hp1 HG02735.hp1 HG03654.hp1 HG03688.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp1 NA18967.hp1 NA19060.hp1 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(10): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0029 a0001c0001t0062 a0001c0001t0117 a0001c0001t0129 a0001c0001t0133 a0001c0001t0140 a0001c0001t0144 a0001c0002t0121 a0002c0003t0030 a0002c0003t0115	a0001c0001t0001g0136 a0001c0001t0005g0139 a0001c0001t0011g0126 others(10): Show a0001c0001t0001g0136 a0001c0001t0005g0139 a0001c0001t0011g0126 a0001c0001t0029g0178 a0001c0001t0062g0190 a0001c0001t0117g0169 a0001c0001t0129g0199 a0001c0001t0133g0127 a0001c0001t0140g0209 a0001c0001t0144g0159 a0001c0002t0121g0148 a0002c0003t0030g0144 a0002c0003t0115g0156	13	128	0.1016	27	c.-28 others(46): Show c.-282+3483_-282+3484insTCTCTCTCTCTCTCTCTCTCTCTCTC T	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPRY3_chrX_155607586_155787459	155740808	T T	TTCATACA others(20): Show TTCATACACCCTGTTCATACACCCCCTG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02922.hp2 NA18940.hp1 HG01496.hp2 HG02922.hp2 NA18940.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0001c0001t0084 a0003c0005t0048 a0001c0001t0002 a0001c0001t0084 a0003c0005t0048	a0001c0001t0002g0218 a0001c0001t0084g0220 a0003c0005t0048g0219 a0001c0001t0002g0218 a0001c0001t0084g0220 a0003c0005t0048g0219	3	229	0.0131	27	c.-28 others(48): Show c.-281-27154_-281-27153insTCATACACCCTGTTCATACACCCC CTG	SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2			chrX	TogoVar
SPTA1_chr1_158605704_158691715	158655286	T T	TAACATTA others(20): Show TAACATTAACTGAGAACATAATTTTAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp1 HG01975.hp1 others(37): Show HG00741.hp1 HG01884.hp1 HG01975.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02559.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0004 a0007 a0008 others(16): Show a0004 a0007 a0008 a0011 a0013 a0015 a0017 a0020 a0022 a0031 a0038 a0040 a0043 a0044 a0047 a0050 a0053 a0055 a0071	a0004c0015 a0004c0022 a0004c0029 others(24): Show a0004c0015 a0004c0022 a0004c0029 a0004c0032 a0004c0060 a0007c0010 a0007c0035 a0008c0016 a0008c0089 a0011c0014 a0013c0059 a0013c0097 a0015c0021 a0017c0030 a0020c0023 a0022c0056 a0022c0098 a0031c0086 a0038c0033 a0040c0062 a0043c0093 a0044c0034 a0047c0058 a0050c0063 a0053c0090 a0055c0061 a0071c0100	a0004c0015t0007 a0004c0015t0015 a0004c0015t0039 others(29): Show a0004c0015t0007 a0004c0015t0015 a0004c0015t0039 a0004c0022t0015 a0004c0022t0039 a0004c0029t0004 a0004c0032t0014 a0004c0060t0015 a0007c0010t0014 a0007c0035t0014 a0008c0016t0029 a0008c0016t0030 a0008c0089t0030 a0011c0014t0015 a0011c0014t0038 a0013c0059t0061 a0013c0097t0021 a0015c0021t0007 a0017c0030t0004 a0020c0023t0007 a0022c0056t0007 a0022c0098t0004 a0031c0086t0037 a0038c0033t0050 a0040c0062t0060 a0043c0093t0041 a0044c0034t0049 a0047c0058t0041 a0050c0063t0001 a0053c0090t0020 a0055c0061t0015 a0071c0100t0005	a0004c0015t0007g0245 a0004c0015t0015g0316 a0004c0015t0039g0323 others(36): Show a0004c0015t0007g0245 a0004c0015t0015g0316 a0004c0015t0039g0323 a0004c0022t0015g0318 a0004c0022t0039g0324 a0004c0029t0004g0155 a0004c0029t0004g0157 a0004c0032t0014g0162 a0004c0060t0015g0317 a0007c0010t0014g0015 a0007c0010t0014g0161 a0007c0035t0014g0159 a0008c0016t0029g0153 a0008c0016t0029g0154 a0008c0016t0030g0152 a0008c0089t0030g0148 a0011c0014t0015g0314 a0011c0014t0038g0321 a0011c0014t0038g0322 a0013c0059t0061g0315 a0013c0097t0021g0158 a0015c0021t0007g0212 a0015c0021t0007g0219 a0017c0030t0004g0028 a0017c0030t0004g0029 a0020c0023t0007g0246 a0020c0023t0007g0247 a0022c0056t0007g0303 a0022c0098t0004g0156 a0031c0086t0037g0326 a0038c0033t0050g0160 a0040c0062t0060g0319 a0043c0093t0041g0320 a0044c0034t0049g0167 a0047c0058t0041g0313 a0050c0063t0001g0248 a0053c0090t0020g0113 a0055c0061t0015g0312 a0071c0100t0005g0030	40	368	0.1087	27	c.289 others(44): Show c.2899-539_2899-538insTTTAAAATTATGTTCTCAGTTAATGTT	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	20/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTAT others(20): Show ATTATTATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0028 a0003c0003t0028	a0003c0003t0028g0026 a0003c0003t0028g0026	1	163	0.0061	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAATAATA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTATTTT others(20): Show ATTATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0098 a0001c0001t0002g0098	1	163	0.0061	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAATA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTA1_chr1_158605704_158691715	158659595	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 NA19068.hp1 HG02735.hp1 NA19068.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0010 a0001c0001t0002 a0003c0005t0010	a0001c0001t0002g0054 a0003c0005t0010g0102 a0001c0001t0002g0054 a0003c0005t0010g0102	2	164	0.0122	27	c.258 others(46): Show c.2587+1691_2587+1692insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding	18/51			chr1	TogoVar
SPTBN1_chr2_54451327_54676446	54495679	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTATTATACTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00735.hp1 others(11): Show HG00280.hp2 HG00323.hp2 HG00735.hp1 HG01106.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG04115.hp1 NA18946.hp2 NA18968.hp1 NA18978.hp2 NA19002.hp2 NA19012.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0022 a0001c0002t0001 a0001c0002t0028 a0001c0009t0002 a0001c0009t0007 a0001c0009t0045 a0001c0021t0001	a0001c0001t0001g0082 a0001c0001t0002g0079 a0001c0001t0007g0292 others(11): Show a0001c0001t0001g0082 a0001c0001t0002g0079 a0001c0001t0007g0292 a0001c0001t0022g0119 a0001c0002t0001g0065 a0001c0002t0001g0090 a0001c0002t0001g0275 a0001c0002t0028g0295 a0001c0002t0028g0296 a0001c0009t0002g0287 a0001c0009t0007g0278 a0001c0009t0007g0336 a0001c0009t0045g0298 a0001c0021t0001g0193	14	313	0.0447	27	c.-47 others(46): Show c.-47-30692_-47-30691insTTTTTTTTTTTTTTTTTATTATACTC T	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(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0356 a0001c0003t0003g0356	1	365	0.0027	27	c.-47 others(44): Show c.-47-3668_-47-3667insGAGAGAGAGAGAGAGAGAGAGAGAGAG	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35			chr2	TogoVar
SPTB_chr14_64741283_64884907	64751927	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02647.hp2 HG02886.hp2 others(2): Show HG01433.hp2 HG02647.hp2 HG02886.hp2 HG02976.hp2 HG03209.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0006 a0012c0025 a0002c0003 a0002c0006 a0012c0025	a0002c0003t0008 a0002c0003t0020 a0002c0006t0008 others(1): Show a0002c0003t0008 a0002c0003t0020 a0002c0006t0008 a0012c0025t0008	a0002c0003t0008g0118 a0002c0003t0008g0121 a0002c0003t0020g0193 others(2): Show a0002c0003t0008g0118 a0002c0003t0008g0121 a0002c0003t0020g0193 a0002c0006t0008g0052 a0012c0025t0008g0120	5	155	0.0323	27	c.660 others(46): Show c.6602+1609_6602+1610insTTTTTTTTTTTTTTTTTTTTTTTTTT T	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	33/35			chr14	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(20): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02486.hp1 HG03225.hp2 others(2): Show HG00438.hp2 HG02486.hp1 HG03225.hp2 NA18945.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0050 a0001c0001t0001 a0001c0001t0015 a0001c0001t0050	a0001c0001t0001g0086 a0001c0001t0001g0177 a0001c0001t0015g0130 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0177 a0001c0001t0015g0130 a0001c0001t0015g0149 a0001c0001t0050g0237	5	30	0.1667	27	c.130 others(46): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAGAA A	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0072 a0002c0003t0001g0072	1	200	0.0050	27	c.61- others(42): Show c.61-5098_61-5097insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SQOR_chr15_45630029_45696281	45666819	C C	CCCCTCCT others(20): Show CCCCTCCTCTCCTCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	338	0.0030	27	c.406 others(44): Show c.406-3083_406-3082insTCCCTCCTCTCCTCTCCCCTCCCCTCC	SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SRBD1_chr2_45383680_45616267	45414983	T T	TACACACA others(20): Show TACACACACAGTGTTATATAGTATGTAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	352	0.0028	27	c.233 others(46): Show c.2334-1691_2334-1690insGTACATACTATATAACACTGTGTGTG T	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45545283	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02257.hp2 HG01109.hp1 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0249 a0002c0002t0001g0023 a0001c0001t0001g0249 a0002c0002t0001g0023	2	120	0.0167	27	c.187 others(46): Show c.1874+1422_1874+1448dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRC_chr20_37341140_37411050	37363490	A A	ATCTGGCT others(20): Show ATCTGGCTGGTATCCTGGCTGTCTGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0259 a0001c0001t0018g0259	1	280	0.0036	27	c.-24 others(46): Show c.-246-1704_-246-1678dupTATCCTGGCTGTCTGCCTTCTGGCTG G	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0015 a0001c0003t0015	a0001c0003t0015g0041 a0001c0003t0015g0041	1	276	0.0036	27	c.206 others(44): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63949042	C C	CCATATAT others(20): Show CCATATATGTATTTTCCATATATATATT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0150 a0002c0004t0150	a0002c0004t0150g0121 a0002c0004t0150g0121	1	168	0.0060	27	c.68- others(44): Show c.68-34883_68-34882insATATTCATATATGTATTTTCCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(20): Show TTTGTTGTTGTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp2 HG01891.hp2 HG02135.hp2 others(9): Show HG00408.hp2 HG01891.hp2 HG02135.hp2 HG02300.hp1 HG02647.hp2 HG02698.hp2 HG03516.hp1 NA18522.hp2 NA18946.hp2 NA18952.hp2 NA18971.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 others(9): Show a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0141 a0001c0001t0142	a0001c0001t0117g0078 a0001c0001t0118g0106 a0001c0001t0119g0041 others(9): Show a0001c0001t0117g0078 a0001c0001t0118g0106 a0001c0001t0119g0041 a0001c0001t0120g0108 a0001c0001t0121g0069 a0001c0001t0122g0073 a0001c0001t0123g0107 a0001c0001t0124g0139 a0001c0001t0125g0050 a0001c0001t0126g0043 a0001c0001t0141g0002 a0001c0001t0142g0007	12	114	0.1053	27	c.15 others(38): Show c.1582_*1583insTTGTTGTTGTTGTTGTTGTTGTTGTTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882890	C C	CGGCAAAA others(20): Show CGGCAAAAAGCCACGGCGGCGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	31	0.0323	27	c.92 others(38): Show c.9269_*9270insCCCCCCCCGCCGCCGTGGCTTTTTGCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4397		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239198	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0104 a0002c0002t0012g0104	1	268	0.0037	27	c.68- others(44): Show c.68-45579_68-45578insCTATATATATATATATATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	88	0.0114	27	c.478 others(44): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTTTTTTTT	SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15			chr6	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	15	0.0667	27	c.164 others(44): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0273 a0001c0002t0001g0273	1	115	0.0087	27	c.-28 others(38): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76266232	A A	AATATATA others(20): Show AATATATATAAATATTTATATATTTAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(47): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01515.hp1 HG01517.hp2 HG01928.hp1 HG02040.hp1 HG02135.hp2 HG02148.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18967.hp1 NA18973.hp2 NA19070.hp1 NA19084.hp1 NA19088.hp2 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0001c0004 a0001c0014 others(2): Show a0001c0001 a0001c0004 a0001c0014 a0004c0009 a0005c0008	a0001c0001t0001 a0001c0004t0001 a0001c0004t0009 others(3): Show a0001c0001t0001 a0001c0004t0001 a0001c0004t0009 a0001c0014t0001 a0004c0009t0001 a0005c0008t0001	a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0074 others(47): Show a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0004t0001g0124 a0001c0004t0001g0126 a0001c0004t0001g0137 a0001c0004t0009g0136 a0001c0014t0001g0285 a0001c0014t0001g0286 a0004c0009t0001g0090 a0004c0009t0001g0094 a0004c0009t0001g0096 a0005c0008t0001g0019 a0005c0008t0001g0021 a0005c0008t0001g0022	50	165	0.3030	27	c.830 others(42): Show c.830+769_830+795dupATATAAATATTTATATATTTAATATAT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRXN1_chr20_641615_658200	642070	G G	GGGGGGCC others(20): Show GGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01891.hp2 others(2): Show HG01243.hp1 HG01243.hp2 HG01891.hp2 HG03195.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0012 a0001c0001t0008g0090 a0001c0001t0008g0012 a0001c0001t0008g0090	5	416	0.0120	27	c.66 others(38): Show c.6643_*6644insAGGCAACTCCACCCCCGCTGGGCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4544		chr20	TogoVar

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