Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(43): Show AAAAAAAATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0018 a0001c0004t0001g0018	1	268	0.0037	50	c.210 others(67): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATATTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108477	T T	TACACACA others(43): Show TACACACACACACACACACACACACACACACACACACACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0007 a0001c0001t0003g0007	1	366	0.0027	50	c.64 others(61): Show c.6400_*6401insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4861		chr20	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	384	0.0026	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAATATATATATATATATA TATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01192.hp1 HG00642.hp2 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	384	0.0052	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	384	0.0026	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0008 a0003c0003t0008	a0003c0003t0008g0382 a0003c0003t0008g0382	1	384	0.0026	50	c.762 others(69): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAAAAATA TATATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(43): Show CATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02015.hp2 HG02027.hp1 others(6): Show HG00408.hp2 HG02015.hp2 HG02027.hp1 HG03927.hp1 NA18940.hp2 NA19004.hp2 NA19062.hp1 NA19068.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0002g0079 others(6): Show a0001c0001t0001g0052 a0001c0001t0001g0115 a0001c0001t0002g0079 a0001c0001t0002g0132 a0002c0002t0002g0013 a0002c0002t0002g0226 a0002c0002t0002g0250 a0002c0002t0002g0262 a0002c0002t0002g0289	9	384	0.0234	50	c.762 others(69): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEEP1_chrX_119533149_119570409	119536967	T T	TAAAAAAA others(43): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	293	0.0034	50	c.27 others(61): Show c.2759_*2760insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTT	STEEP1	ENSG00000018610.15	transcript	ENST00000644802.2	protein_coding		1181		chrX	TogoVar
STIM2_chr4_26855841_27030381	26880646	A A	AATATATA others(43): Show AATATATATATAAATATATATGTAAATATATATATAAATATATATGTAAA T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG01243.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0224 a0001c0001t0001g0225	2	336	0.0060	50	c.151 others(69): Show c.151+19309_151+19310insATAAATATATATGTAAATATATATAT ATAAATATATATGTAAATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172076207	T T	TGTTGTGG others(43): Show TGTTGTGGGGGCTATCCTGTGCATTTGTTGTGGGGGCTGTCCTGTGCGTT A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0019 a0001c0011t0019	a0001c0011t0019g0002 a0001c0011t0019g0002	1	232	0.0043	50	c.198 others(69): Show c.1989+6118_1989+6119insTAACGCACAGGACAGCCCCCACAACA AATGCACAGGATAGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172076316	C C	CTGTCCTG others(43): Show CTGTCCTGTGTGTTAGTTGTGGGGGCGTCCTGTGTATTTGTTGTGGGGGC T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0026 a0005c0026t0026	a0005c0026t0026g0222 a0005c0026t0026g0222	1	232	0.0043	50	c.198 others(69): Show c.1989+6009_1989+6010insAGCCCCCACAACAAATACACAGGACG CCCCCACAACTAACACACAGGACA	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172153285	T T	TAAGAAAG others(43): Show TAAGAAAGGAAAGAAAGAAAAAAGAAAGAAAGGAAAGAAAGGAAAGAAAG A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0014 a0001c0004t0013g0014	1	232	0.0043	50	c.321 others(67): Show c.321+3338_321+3339insTCTTTCTTTCCTTTCTTTCCTTTCTTTC TTTTTTCTTTCTTTCCTTTCTT	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	2/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	404	0.0025	50	c.483 others(67): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0162 a0003c0003t0001g0162	1	404	0.0025	50	c.483 others(67): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5122232	T T	TCATTCAC others(43): Show TCATTCACTCACATTTACTCATTTACTCATTCATTCATTCATTCACTCAC C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG03209.hp2 HG02145.hp2 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0001t0020 a0001c0003t0001 a0001c0001t0005 a0001c0001t0020 a0001c0003t0001	a0001c0001t0005g0164 a0001c0001t0020g0123 a0001c0003t0001g0018 a0001c0001t0005g0164 a0001c0001t0020g0123 a0001c0003t0001g0018	3	170	0.0177	50	c.53- others(67): Show c.53-17661_53-17612dupATTTACTCATTTACTCATTCATTCATTC ATTCACTCACCCATTCACTCAC	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK32B_chr4_5046480_5505989	5254965	A A	AATATATA others(43): Show AATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0033 a0002c0004t0002g0033	1	170	0.0059	50	c.261 others(69): Show c.261-76243_261-76242insATATATATATATATATATATATATAT ATATATATATATATATATATATAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCAC others(43): Show CCCCCCACCTCCCTCCCGGACGGGGGCTGCTGGCCGGGCGGGGGGCTGAC G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	376	0.0027	50	c.-48 others(69): Show c.-48+25130_-48+25131insCGGGGGCTGCTGGCCGGGCGGGGGGC TGACGCCCCCACCTCCCTCCCGGA	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCCCA others(43): Show CCCCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGAC G	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02809.hp1 HG03098.hp1 HG00642.hp1 HG02809.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0006 a0001c0003t0024 a0001c0001t0003 a0001c0001t0006 a0001c0003t0024	a0001c0001t0003g0008 a0001c0001t0006g0312 a0001c0003t0024g0292 a0001c0001t0003g0008 a0001c0001t0006g0312 a0001c0003t0024g0292	3	376	0.0080	50	c.-48 others(69): Show c.-48+25116_-48+25117insCACCTCCCTCCCGGACGGGGCTGCTG GCCGGGCGGGGGGCTGACGCCCCC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STON1_chr2_48525154_48603513	48555764	G G	GGGCGGGG others(43): Show GGGCGGGGCGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0179 a0001c0003t0002g0179	1	376	0.0027	50	c.-47 others(69): Show c.-47-24818_-47-24817insGGCGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCAGGCGG	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STRIP2_chr7_129429432_129493399	129476290	A A	ACCTCCCT others(43): Show ACCTCCCTCCCGGGTGGGGCGGCTGGCCGGGCGGGGGCTGCCCCCCACCT C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0061 a0001c0001t0031g0061	1	346	0.0029	50	c.194 others(69): Show c.1945-4494_1945-4493insCTCCCTCCCGGGTGGGGCGGCTGGCC GGGCGGGGGCTGCCCCCCACCTCC	STRIP2	ENSG00000128578.10	transcript	ENST00000249344.7	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr7	TogoVar
STRN3_chr14_30888804_31031379	31013886	T T	TATTATTA others(43): Show TATTATTATTATTATTATTATTATTATTATTATTATTTGAGACAGAGTGT C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0299 a0002c0005t0001g0299	1	364	0.0028	50	c.282 others(69): Show c.282+12017_282+12018insGACACTCTGTCTCAAATAATAATAAT AATAATAATAATAATAATAATAAT	STRN3	ENSG00000196792.12	transcript	ENST00000357479.10	protein_coding	1/17			chr14	TogoVar
STT3B_chr3_31527925_31642616	31572015	C C	CATATTAA others(43): Show CATATTAATATATATTAATATATGATATATTAATATATATTAATATATGA T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp1 HG02451.hp1 others(7): Show HG00639.hp1 HG01884.hp1 HG02451.hp1 HG02559.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03540.hp1 NA18522.hp1 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0244 a0001c0001t0001g0310 others(6): Show a0001c0001t0001g0015 a0001c0001t0001g0244 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316	10	342	0.0292	50	c.315 others(67): Show c.315-4344_315-4343insATTAATATATGATATATTAATATATATT AATATATGATATATTAATATAT	STT3B	ENSG00000163527.10	transcript	ENST00000295770.4	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
STX3_chr11_59750376_59810878	59771233	T T	TGGGGAAC others(43): Show TGGGGAACTTAGTGAGACCCCCGTCCCTACAAAAAAATAAAAAAATGTAG C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00642.hp1 HG00733.hp2 others(45): Show HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01106.hp2 HG01123.hp1 HG01243.hp1 HG01361.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01993.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02735.hp2 HG02896.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp2 HG03710.hp2 NA18939.hp1 NA18941.hp1 NA18948.hp2 NA18949.hp1 NA18960.hp1 NA18961.hp1 NA18967.hp2 NA18973.hp2 NA18991.hp2 NA18995.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19067.hp2 NA19078.hp1 NA19079.hp2 NA20300.hp1 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0005c0006t0014	a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0153 others(41): Show a0001c0001t0002g0005 a0001c0001t0002g0025 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0179 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0005g0024 a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0148 a0001c0001t0005g0174 a0001c0001t0010g0166 a0001c0001t0010g0169 a0001c0001t0010g0171 a0001c0001t0015g0138 a0001c0001t0016g0162 a0001c0001t0017g0180 a0001c0001t0018g0163 a0005c0006t0014g0149	48	218	0.2202	50	c.31- others(65): Show c.31-1974_31-1973insAACTTAGTGAGACCCCCGTCCCTACAAAAA AATAAAAAAATGTAGCGGGG	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX3_chr11_59750376_59810878	59771233	T T	TGGGGAAC others(43): Show TGGGGAACTTAGTGAGACTCCCGTCCCTACAAAAAAATAAAAAAATGTAG C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02976.hp1 HG02818.hp1 HG02976.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0011 a0004c0004t0011	a0004c0004t0011g0150 a0004c0004t0011g0151 a0004c0004t0011g0150 a0004c0004t0011g0151	2	218	0.0092	50	c.31- others(65): Show c.31-1974_31-1973insAACTTAGTGAGACTCCCGTCCCTACAAAAA AATAAAAAAATGTAGCGGGG	STX3	ENSG00000166900.17	transcript	ENST00000337979.9	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(43): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCTCTCTCTCT C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0132 a0001c0002t0002g0132	1	350	0.0029	50	c.-35 others(59): Show c.-356_-355insGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGGAGAGA GAGAGAGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STXBP4_chr17_54963765_55178632	54984865	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAATAATTAATAAAGAAATAAAAAATATAATTTACAAAAA T	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0129 a0001c0001t0129	a0001c0001t0129g0161 a0001c0001t0129g0161	1	378	0.0027	50	c.-15 others(67): Show c.-156-749_-156-748insAAAAAAAAAAAATAATTAATAAAGAAAT AAAAAATATAATTTACAAAAAT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	1/17			chr17	TogoVar
SUCLG2_chr3_67369719_67659612	67444499	C C	CGGGAGGG others(43): Show CGGGAGGGAGGTGGGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTC T	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	280	0.0036	50	c.106 others(71): Show c.1063-43649_1063-43648insAGACGGGGCGGCTGGCCGGGTGGG GGGCTGACCCCCCCCACCTCCCTCCC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444520	A A	AGCCCCCC others(43): Show AGCCCCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCA G	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	280	0.0036	50	c.106 others(71): Show c.1063-43670_1063-43669insCTGACCCCCCCACCTCCCTCCCAG ACGGGGCGGCTGGCCGGGTGGGGGGC	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUCLG2_chr3_67369719_67659612	67444521	A A	ACCCCCCG others(43): Show ACCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCA G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0169 a0001c0001t0002g0169	1	280	0.0036	50	c.106 others(71): Show c.1063-43671_1063-43670insCTGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102638104	T T	TGATCATA others(43): Show TGATCATATAAAATATATAATATATTATATATGATCATATAAAATATATA A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03540.hp2 HG03139.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0254 a0001c0001t0001g0116 a0001c0001t0001g0254	2	268	0.0075	50	c.79 others(61): Show c.7949_*7950insGATCATATAAAATATATAATATATTATATATGAT CATATAAAATATATAA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4570		chr10	TogoVar
SULF1_chr8_69487847_69665912	69617019	A A	AGATGGAT others(43): Show AGATGGATAAGCCTTAAACCATTTGGATTTAAGACAGATATACATACAGA C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	296	0.0034	50	c.137 others(69): Show c.1378-4015_1378-3966dupGATGGATAAGCCTTAAACCATTTGGA TTTAAGACAGATATACATACAGAC	SULF1	ENSG00000137573.14	transcript	ENST00000402687.9	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr8	TogoVar
SULT1C3_chr2_108234968_108265886	108254815	A A	ATGTATGT others(43): Show ATGTATGTATGCATATATATGTATATATGTGTATATATACACATATATAT G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0093 a0004c0005t0001g0093	1	376	0.0027	50	c.400 others(65): Show c.400-754_400-753insATGTATGCATATATATGTATATATGTGTAT ATATACACATATATATGTGT	SULT1C3	ENSG00000196228.5	transcript	ENST00000681802.2	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
SUMF1_chr3_4356146_4472269	4457038	G G	GTATATAT others(43): Show GTATATATATATACGTGTGTGTATATATATATATATACGTGTGTGTATAT A	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0018 a0003c0005t0005g0018	1	392	0.0026	50	c.271 others(67): Show c.271-4039_271-3990dupTATATACACACACGTATATATATATATA TACACACACGTATATATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(43): Show GCCTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	262	0.0038	50	c.102 others(71): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230686	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0057 a0001c0001t0009g0057	1	262	0.0038	50	c.102 others(71): Show c.102-124681_102-124680insAAAAAAAAAATATATATATATATA TATATATATATATATATATATATATA	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SURF6_chr9_133323776_133341188	133326531	G G	GGAGGCAC others(43): Show GGAGGCACCACGCTCGGCCTCCCAAAGTGCTGGGATTACAGGAGTGAGGC A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01071.hp2 others(7): Show HG00423.hp1 HG01069.hp1 HG01071.hp2 HG01346.hp1 NA18961.hp1 NA18983.hp2 NA18998.hp2 NA19054.hp1 NA19081.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0001 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0001 a0001c0001t0005g0005 a0001c0001t0006g0012 others(1): Show a0001c0001t0001g0001 a0001c0001t0005g0005 a0001c0001t0006g0012 a0001c0001t0006g0014	10	410	0.0244	50	c.53 others(61): Show c.5337_*5338insTGCCTCACTCCTGTAATCCCAGCACTTTGGGAGG CCGAGCGTGGTGCCTC	SURF6	ENSG00000148296.7	transcript	ENST00000372022.6	protein_coding		2244		chr9	TogoVar
SUSD1_chr9_112035783_112180297	112138238	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATGTATATACA C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	338	0.0030	50	c.706 others(67): Show c.706+4081_706+4082insGTGTATATACATATATATATATATATAT ATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATATATGTATATACA C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02647.hp2 HG02922.hp2 others(2): Show HG01243.hp2 HG02647.hp2 HG02922.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0021 a0001c0001 a0001c0002 a0001c0021	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0001c0001t0001 a0001c0002t0001 a0001c0021t0001	a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0249 others(2): Show a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0249 a0001c0002t0001g0075 a0001c0021t0001g0166	5	338	0.0148	50	c.706 others(67): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SV2B_chr15_91095257_91307565	91158698	T T	TCCCTTCC others(43): Show TCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT C	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02735.hp2 HG03239.hp1 others(1): Show HG02602.hp1 HG02735.hp2 HG03239.hp1 HG03654.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0011 a0001c0001 a0002c0011	a0001c0001t0001 a0001c0001t0076 a0002c0011t0057 a0001c0001t0001 a0001c0001t0076 a0002c0011t0057	a0001c0001t0001g0077 a0001c0001t0001g0139 a0001c0001t0076g0206 others(1): Show a0001c0001t0001g0077 a0001c0001t0001g0139 a0001c0001t0076g0206 a0002c0011t0057g0066	4	214	0.0187	50	c.-39 others(71): Show c.-392+58336_-392+58337insCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTCC	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158698	T T	TCTCTTCT others(43): Show TCTCTTCTCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCT C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0072 a0001c0003t0004g0074 a0001c0003t0004g0072 a0001c0003t0004g0074	2	214	0.0094	50	c.-39 others(71): Show c.-392+58339_-392+58340insTCTCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCCTTCCCTTCCCTCCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2C_chr5_76078383_76338956	76172288	T T	TGGGGGGG others(43): Show TGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02258.hp1 HG02451.hp1 others(6): Show HG00642.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02647.hp1 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0008 a0001c0001 a0002c0003 a0002c0008	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0046 a0001c0001t0088 a0002c0003t0119 a0002c0008t0002 a0002c0008t0007	a0001c0001t0002g0224 a0001c0001t0004g0219 a0001c0001t0012g0223 others(6): Show a0001c0001t0002g0224 a0001c0001t0004g0219 a0001c0001t0012g0223 a0001c0001t0046g0050 a0001c0001t0088g0123 a0002c0003t0119g0187 a0002c0008t0002g0218 a0002c0008t0002g0221 a0002c0008t0007g0225	9	234	0.0385	50	c.581 others(69): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(43): Show TTTTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0027 a0027	a0027c0021 a0027c0021	a0027c0021t0002 a0027c0021t0002	a0027c0021t0002g0139 a0027c0021t0002g0139	1	362	0.0028	50	c.982 others(69): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATATATATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9675346	C C	CGAGAGAG others(43): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0235 a0001c0003t0003g0235	1	294	0.0034	50	c.99+ others(67): Show c.99+11094_99+11143dupAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAG	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9699866	G G	GTATATAT others(43): Show GTATATATATATATATGTATATATATATATGTATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA19043.hp2 HG03195.hp2 NA19043.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0008 a0002c0001t0008	a0002c0001t0008g0097 a0002c0001t0008g0098 a0002c0001t0008g0097 a0002c0001t0008g0098	2	294	0.0068	50	c.240 others(67): Show c.240+5595_240+5596insGTATATATATATATGTATATATATATAT ATATATATATATATATATATAT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWAP70_chr11_9659077_9757993	9705514	G G	GTATACAC others(43): Show GTATACACTGGTGATCTGTATGCACTGGTGATATGTATATACTTGGTGAT C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0032 a0001c0002t0032	a0001c0002t0032g0044 a0001c0002t0032g0044	1	294	0.0034	50	c.241 others(67): Show c.241-7951_241-7950insATACACTGGTGATCTGTATGCACTGGTG ATATGTATATACTTGGTGATCT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SWI5_chr9_128271276_128293989	128293205	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAATAACAAAAAAAAAAAAAAAAAAAA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	386	0.0026	50	c.44 others(61): Show c.4489_*4490insAAAAAAAAAAAAAAAAAAAAAAAAATAACAAAAA AAAAAAAAAAAAAAAC	SWI5	ENSG00000175854.15	transcript	ENST00000418976.3	protein_coding		4217		chr9	TogoVar
SYCP2L_chr6_10882052_10979309	10978305	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0108 a0015c0027t0001g0108	1	354	0.0028	50	c.43 others(61): Show c.4391_*4392insTATATATATATATATATATATATATATATATATA TATATATATATTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding		3997		chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTT T	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	426	0.0024	50	c.236 others(65): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTATA others(43): Show TGTGTATATATATATATACACATACGTGTATATATACACACATACACATA C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(37): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00735.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01496.hp2 HG01891.hp1 HG02055.hp2 HG02148.hp2 HG02258.hp2 HG02293.hp1 HG02486.hp1 HG02622.hp1 HG02698.hp2 HG02717.hp1 HG02818.hp1 HG02922.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03540.hp1 HG04228.hp1 NA18955.hp1 NA18982.hp2 NA18986.hp2 NA18991.hp2 NA19000.hp2 NA19001.hp2 NA19010.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(18): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0017 a0001c0001t0041 a0001c0001t0043 a0001c0001t0059 a0001c0003t0008 a0001c0005t0003 a0001c0005t0004 a0001c0005t0006 a0001c0005t0007 a0001c0005t0010 a0001c0005t0012 a0001c0005t0022 a0001c0005t0042 a0001c0005t0044 a0001c0005t0045 a0001c0005t0068 a0001c0012t0022	a0001c0001t0002g0124 a0001c0001t0003g0123 a0001c0001t0006g0019 others(36): Show a0001c0001t0002g0124 a0001c0001t0003g0123 a0001c0001t0006g0019 a0001c0001t0006g0031 a0001c0001t0006g0067 a0001c0001t0006g0081 a0001c0001t0006g0088 a0001c0001t0006g0090 a0001c0001t0006g0098 a0001c0001t0006g0132 a0001c0001t0006g0159 a0001c0001t0006g0183 a0001c0001t0006g0243 a0001c0001t0006g0253 a0001c0001t0007g0111 a0001c0001t0007g0112 a0001c0001t0007g0247 a0001c0001t0017g0113 a0001c0001t0041g0178 a0001c0001t0043g0221 a0001c0001t0059g0062 a0001c0003t0008g0203 a0001c0005t0003g0223 a0001c0005t0004g0080 a0001c0005t0004g0237 a0001c0005t0006g0032 a0001c0005t0006g0372 a0001c0005t0007g0002 a0001c0005t0007g0056 a0001c0005t0007g0126 a0001c0005t0010g0220 a0001c0005t0010g0369 a0001c0005t0012g0051 a0001c0005t0022g0041 a0001c0005t0042g0057 a0001c0005t0044g0240 a0001c0005t0045g0168 a0001c0005t0068g0248 a0001c0012t0022g0353	40	376	0.1064	50	c.158 others(69): Show c.1582-3588_1582-3587insTATATACACATACGTGTATATATACA CACATACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTGTGTA others(43): Show TGTGTGTATATATATATACACATACGTGTATATATACACACATACACATA C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02698.hp1 HG00438.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0135 a0001c0001t0017g0322 a0001c0001t0017g0135 a0001c0001t0017g0322	2	376	0.0053	50	c.158 others(69): Show c.1582-3595_1582-3594insGTATATATATATACACATACGTGTAT ATATACACACATACACATACGTGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar