Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SH3RF2_chr5_145931578_146068292	146064719	AAAGAAAG others(25): Show AAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0157 a0001c0011t0001g0157	1	190	0.0053	-32	c.20 others(43): Show c.2019_*2050delAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGG	SH3RF2	ENSG00000156463.18	transcript	ENST00000359120.9	protein_coding		1428		chr5	TogoVar
SHCBP1L_chr1_182894865_182958166	182924701	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	125	0.0080	-32	c.118 others(51): Show c.1182+4914_1182+4945delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182927050	CTATATAT others(25): Show CTATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp2 others(42): Show HG00099.hp1 HG00099.hp2 HG00423.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01257.hp2 HG01261.hp1 HG01361.hp1 HG01496.hp2 HG02040.hp1 HG02055.hp2 HG02280.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp1 HG02970.hp1 HG03098.hp2 HG03471.hp1 HG03669.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 NA18942.hp1 NA18955.hp1 NA18957.hp1 NA18971.hp2 NA18973.hp1 NA18977.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA19000.hp2 NA19007.hp2 NA19043.hp2 NA19060.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0005c0005 a0010c0012 a0011c0010	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0005c0005t0001 a0010c0012t0001 a0011c0010t0001	a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0139 others(42): Show a0001c0001t0001g0082 a0001c0001t0001g0097 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0003t0001g0110 a0002c0002t0001g0041 a0005c0005t0001g0044 a0005c0005t0001g0045 a0005c0005t0001g0047 a0005c0005t0001g0049 a0010c0012t0001g0174 a0011c0010t0001g0276	45	53	0.8491	-32	c.118 others(51): Show c.1182+2565_1182+2596delTATATATATATATATATATATATATA TATATA	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952175	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0029 a0002c0002t0001g0029	1	297	0.0034	-32	c.405 others(47): Show c.405+522_405+553delATATATATATATATATTTTTTTTTTTTTTT TT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHCBP1L_chr1_182894865_182958166	182952179	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0112 a0001c0003t0001g0112	1	281	0.0036	-32	c.405 others(47): Show c.405+518_405+549delATATATATATATATATATATTTTTTTTTTT TT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	1/9			chr1	TogoVar
SHD_chr19_4274266_4295722	4286226	CTTTCTTT others(25): Show CTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01361.hp1 others(2): Show HG01257.hp2 HG01258.hp1 HG01361.hp1 HG01978.hp2 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0109 a0001c0001t0002g0155 others(1): Show a0001c0001t0002g0046 a0001c0001t0002g0109 a0001c0001t0002g0155 a0001c0001t0002g0180	5	378	0.0132	-32	c.716 others(49): Show c.716+1323_716+1354delTTTCTTTTCTTTCTTTCTTTCTTTCTTT CTTT	SHD	ENSG00000105251.11	transcript	ENST00000543264.7	protein_coding	4/5			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55434833	TGTGTGGT others(25): Show TGTGTGGTGTGTGTGTGCGTGTGTGTATATGTG	T T	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0087 a0002c0002t0001g0087	1	370	0.0027	-32	c.977 others(49): Show c.977-1069_977-1038delCACATATACACACACGCACACACACACC ACAC	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding	3/3			chr19	TogoVar
SHISA9_chr16_12896598_13245416	12943306	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0083 a0001c0001t0083	a0001c0001t0083g0136 a0001c0001t0083g0136	1	208	0.0048	-32	c.691 others(51): Show c.691+26493_691+26524delTGTGTGTGTGTGTGTGTGTGTGTGAG AGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943310	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02257.hp2 HG02451.hp2 others(5): Show HG01891.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp2 HG02723.hp1 HG02896.hp1 HG03471.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0066	a0001c0001t0003g0081 a0001c0001t0004g0079 a0001c0001t0005g0035 others(5): Show a0001c0001t0003g0081 a0001c0001t0004g0079 a0001c0001t0005g0035 a0001c0001t0008g0050 a0001c0001t0009g0063 a0001c0001t0012g0078 a0001c0001t0014g0076 a0001c0001t0066g0075	8	147	0.0544	-32	c.691 others(51): Show c.691+26497_691+26528delTGTGTGTGTGTGTGTGTGTGAGAGAG AGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	12943312	TGTGTGTG others(25): Show TGTGTGTGTGTGTGTGTGTGAGAGAGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00738.hp1 HG01258.hp1 others(6): Show HG00639.hp2 HG00738.hp1 HG01258.hp1 HG01975.hp1 HG02132.hp1 HG02683.hp1 HG03471.hp2 NA19056.hp1 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0015 a0001c0001t0077	a0001c0001t0001g0070 a0001c0001t0002g0152 a0001c0001t0002g0168 others(6): Show a0001c0001t0001g0070 a0001c0001t0002g0152 a0001c0001t0002g0168 a0001c0001t0002g0202 a0001c0001t0004g0027 a0001c0001t0004g0048 a0001c0001t0005g0179 a0001c0001t0015g0032 a0001c0001t0077g0198	9	195	0.0462	-32	c.691 others(51): Show c.691+26499_691+26530delTGTGTGTGTGTGTGTGTGAGAGAGAG AGAGAG	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019819	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTTTCCTTCCTTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0091	a0001c0001t0091g0065 a0001c0001t0091g0065	1	214	0.0047	-32	c.691 others(53): Show c.691+103007_691+103038delTTCTTTCTTTCTTTTTCCTTCCTT CCCTCCCT	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019862	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTCCCTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0181 a0001c0002t0009g0181	1	211	0.0047	-32	c.691 others(53): Show c.691+103049_691+103080delCTCCCTCCCTCCCTCCCTCCCTTC TTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019866	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTCCCTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02683.hp1 HG02109.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0093 a0001c0001t0004 a0001c0001t0093	a0001c0001t0004g0027 a0001c0001t0093g0102 a0001c0001t0004g0027 a0001c0001t0093g0102	2	210	0.0095	-32	c.691 others(53): Show c.691+103053_691+103084delCTCCCTCCCTCCCTCCCTTCTTTC TTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019870	CCCTCCCT others(25): Show CCCTCCCTCCCTCCCTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0020 a0001c0001t0054g0020	1	209	0.0048	-32	c.691 others(53): Show c.691+103057_691+103088delCTCCCTCCCTCCCTTCTTTCTTTC TTTCTTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13019940	TTTCTTTC others(25): Show TTTCTTTCTTTCTTTCTTTCCCTCCTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0146 a0001c0001t0026g0146	1	211	0.0047	-32	c.691 others(53): Show c.691+103129_691+103160delTTTCTTTCTTTCTTTCCCTCCTTC TTTCCTTC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181267	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG03130.hp2 NA20129.hp2 HG02155.hp2 HG03130.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0051 a0001c0001t0083 a0001c0001t0001 a0001c0001t0051 a0001c0001t0083	a0001c0001t0001g0054 a0001c0001t0051g0025 a0001c0001t0083g0136 a0001c0001t0001g0054 a0001c0001t0051g0025 a0001c0001t0083g0136	3	144	0.0208	-32	c.692 others(51): Show c.692-22112_692-22081delTATATATATATATATATATATATATA TATATA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181282	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0148	1	214	0.0047	-32	c.692 others(51): Show c.692-22110_692-22079delTATATATATATATATATATATATATA TATACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13181284	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00544.hp1 others(76): Show HG00099.hp2 HG00140.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp2 HG01167.hp2 HG01255.hp2 HG01261.hp1 HG01496.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp1 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp2 HG03486.hp1 HG03491.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18944.hp2 NA18952.hp2 NA18967.hp2 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA19000.hp2 NA19010.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19065.hp2 NA20300.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0002c0005 others(1): Show a0001c0001 a0001c0002 a0002c0005 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(48): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0050 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0064 a0001c0001t0068 a0001c0001t0073 a0001c0001t0077 a0001c0001t0081 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0082 a0002c0005t0006 a0004c0006t0019	a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0085 others(76): Show a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0201 a0001c0001t0002g0045 a0001c0001t0002g0060 a0001c0001t0002g0166 a0001c0001t0002g0213 a0001c0001t0003g0029 a0001c0001t0003g0147 a0001c0001t0003g0191 a0001c0001t0003g0205 a0001c0001t0004g0006 a0001c0001t0004g0027 a0001c0001t0005g0035 a0001c0001t0005g0049 a0001c0001t0005g0096 a0001c0001t0005g0179 a0001c0001t0006g0042 a0001c0001t0006g0083 a0001c0001t0007g0066 a0001c0001t0007g0114 a0001c0001t0007g0126 a0001c0001t0007g0135 a0001c0001t0007g0189 a0001c0001t0009g0214 a0001c0001t0010g0188 a0001c0001t0011g0127 a0001c0001t0011g0155 a0001c0001t0012g0078 a0001c0001t0014g0036 a0001c0001t0014g0037 a0001c0001t0014g0057 a0001c0001t0014g0076 a0001c0001t0015g0032 a0001c0001t0015g0190 a0001c0001t0018g0132 a0001c0001t0020g0187 a0001c0001t0021g0058 a0001c0001t0025g0010 a0001c0001t0025g0175 a0001c0001t0026g0146 a0001c0001t0027g0149 a0001c0001t0028g0171 a0001c0001t0030g0026 a0001c0001t0031g0059 a0001c0001t0033g0157 a0001c0001t0034g0121 a0001c0001t0038g0130 a0001c0001t0041g0019 a0001c0001t0042g0021 a0001c0001t0043g0030 a0001c0001t0044g0033 a0001c0001t0046g0040 a0001c0001t0048g0053 a0001c0001t0050g0043 a0001c0001t0056g0056 a0001c0001t0057g0094 a0001c0001t0059g0046 a0001c0001t0061g0073 a0001c0001t0064g0112 a0001c0001t0068g0044 a0001c0001t0073g0109 a0001c0001t0077g0198 a0001c0001t0081g0169 a0001c0001t0092g0144 a0001c0001t0093g0102 a0001c0001t0094g0101 a0001c0001t0096g0103 a0001c0002t0006g0116 a0001c0002t0006g0117 a0001c0002t0006g0185 a0001c0002t0009g0181 a0001c0002t0009g0184 a0001c0002t0013g0124 a0001c0002t0082g0186 a0002c0005t0006g0098 a0004c0006t0019g0023	79	212	0.3726	-32	c.692 others(51): Show c.692-22108_692-22077delTATATATATATATATATATATATATA TACACA	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHKBP1_chr19_40571873_40596397	40589495	CCCAGGGG others(25): Show CCCAGGGGGAGAGGTCGGGGTGGGATGGGGGGA	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	390	0.0026	-32	c.158 others(49): Show c.1589+328_1589+359delAGGTCGGGGTGGGATGGGGGGACCAGGG GGAG	SHKBP1	ENSG00000160410.15	transcript	ENST00000291842.10	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr19	TogoVar
SHOX_chrX_625791_656584	628663	GTCTGTTT others(25): Show GTCTGTTTCTCTCTCTCCATCTGTCTGTGTCTC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00544.hp2 HG00558.hp1 others(38): Show HG00323.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp2 HG00733.hp1 HG01070.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01975.hp2 HG02273.hp1 HG02683.hp2 HG03239.hp1 HG03516.hp2 HG03834.hp1 NA18941.hp2 NA18948.hp2 NA18949.hp2 NA18964.hp1 NA18964.hp2 NA18973.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18985.hp2 NA18993.hp2 NA18997.hp1 NA18997.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19011.hp1 NA19030.hp2 NA19074.hp2 NA19081.hp1 NA19086.hp1 NA19090.hp2 NA19091.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0038 a0001c0001t0047 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0001t0069 a0001c0001t0071 a0001c0001t0075 a0001c0001t0085 a0001c0001t0087 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0105 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0114 a0001c0001t0120 a0001c0001t0122 a0001c0001t0124 a0001c0001t0133 a0001c0001t0134	a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0002g0048 others(37): Show a0001c0001t0001g0009 a0001c0001t0002g0011 a0001c0001t0002g0048 a0001c0001t0006g0051 a0001c0001t0007g0049 a0001c0001t0012g0010 a0001c0001t0012g0145 a0001c0001t0015g0141 a0001c0001t0018g0058 a0001c0001t0019g0004 a0001c0001t0020g0052 a0001c0001t0020g0062 a0001c0001t0021g0061 a0001c0001t0030g0043 a0001c0001t0038g0010 a0001c0001t0047g0059 a0001c0001t0057g0006 a0001c0001t0060g0006 a0001c0001t0061g0185 a0001c0001t0064g0053 a0001c0001t0069g0202 a0001c0001t0071g0137 a0001c0001t0075g0050 a0001c0001t0085g0009 a0001c0001t0087g0044 a0001c0001t0096g0039 a0001c0001t0097g0104 a0001c0001t0098g0161 a0001c0001t0099g0206 a0001c0001t0105g0057 a0001c0001t0107g0054 a0001c0001t0109g0181 a0001c0001t0110g0040 a0001c0001t0111g0060 a0001c0001t0114g0042 a0001c0001t0120g0005 a0001c0001t0122g0005 a0001c0001t0124g0045 a0001c0001t0133g0135 a0001c0001t0134g0163	41	218	0.1881	-32	c.-22 others(43): Show c.-2234_-2203delTCTGTTTCTCTCTCTCCATCTGTCTGTGTCTC	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		2127		chrX	TogoVar
SHOX_chrX_625791_656584	655592	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0115 a0001c0001t0007 a0001c0001t0115	a0001c0001t0007g0038 a0001c0001t0115g0037 a0001c0001t0007g0038 a0001c0001t0115g0037	2	210	0.0095	-32	c.10 others(45): Show c.10957_*10988delTCTCTCTCTCTCTCTCTCTCTCTATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4009		chrX	TogoVar
SHOX_chrX_625791_656584	655598	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0117 a0001c0001t0025g0117	1	207	0.0048	-32	c.10 others(45): Show c.10963_*10994delTCTCTCTCTCTCTCTCTATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4015		chrX	TogoVar
SHOX_chrX_625791_656584	655600	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA19240.hp2 HG01891.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0032 a0001c0002t0170 a0001c0001t0032 a0001c0002t0170	a0001c0001t0032g0091 a0001c0002t0170g0014 a0001c0001t0032g0091 a0001c0002t0170g0014	2	206	0.0097	-32	c.10 others(45): Show c.10965_*10996delTCTCTCTCTCTCTCTATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4017		chrX	TogoVar
SHOX_chrX_625791_656584	655602	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 HG02080.hp1 NA18906.hp1 others(1): Show HG01517.hp1 HG02080.hp1 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0025 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0025 a0001c0001t0139	a0001c0001t0001g0067 a0001c0001t0008g0142 a0001c0001t0025g0158 others(1): Show a0001c0001t0001g0067 a0001c0001t0008g0142 a0001c0001t0025g0158 a0001c0001t0139g0089	4	199	0.0201	-32	c.10 others(45): Show c.10967_*10998delTCTCTCTCTCTCTATATATATATATATATATA	SHOX	ENSG00000185960.15	transcript	ENST00000686671.1	protein_coding		4019		chrX	TogoVar
SHQ1_chr3_72744277_72853445	72852090	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	216	0.0046	-32	c.-37 others(43): Show c.-3782_-3751delTATATATATATATATAGAGAGAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3646		chr3	TogoVar
SHQ1_chr3_72744277_72853445	72852096	CTCTCTCT others(25): Show CTCTCTCTCTCTATATATATATATATATATATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03654.hp1 HG04204.hp2 HG03516.hp2 HG03654.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0085 a0002c0002t0001g0191 a0001c0001t0001g0009 a0001c0001t0001g0085 a0002c0002t0001g0191	3	215	0.0140	-32	c.-37 others(43): Show c.-3788_-3757delTATATATATATATATATATATAGAGAGAGAGA	SHQ1	ENSG00000144736.14	transcript	ENST00000325599.13	protein_coding		3652		chr3	TogoVar
SHROOM2_chrX_9781429_9954443	9912220	CACACACA others(25): Show CACACACACACACACACACACACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02109.hp2 others(9): Show HG01070.hp2 HG01071.hp1 HG02109.hp2 HG02258.hp1 HG02615.hp1 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03209.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0008 a0028 a0036 a0043 a0046	a0001c0003 a0002c0006 a0002c0017 others(6): Show a0001c0003 a0002c0006 a0002c0017 a0003c0008 a0008c0025 a0028c0061 a0036c0074 a0043c0063 a0046c0062	a0001c0003t0001 a0002c0006t0002 a0002c0017t0002 others(7): Show a0001c0003t0001 a0002c0006t0002 a0002c0017t0002 a0002c0017t0007 a0003c0008t0004 a0008c0025t0002 a0028c0061t0001 a0036c0074t0003 a0043c0063t0004 a0046c0062t0002	a0001c0003t0001g0129 a0001c0003t0001g0235 a0002c0006t0002g0241 others(9): Show a0001c0003t0001g0129 a0001c0003t0001g0235 a0002c0006t0002g0241 a0002c0017t0002g0140 a0002c0017t0007g0009 a0003c0008t0004g0204 a0008c0025t0002g0012 a0008c0025t0002g0013 a0028c0061t0001g0205 a0036c0074t0003g0176 a0043c0063t0004g0021 a0046c0062t0002g0226	12	254	0.0472	-32	c.289 others(53): Show c.2891+13932_2891+13963delCACACACACACACACACACACACA CACACATA	SHROOM2	ENSG00000146950.13	transcript	ENST00000380913.8	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
SHROOM3_chr4_76430229_76788253	76651401	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00673.hp2 others(39): Show HG00099.hp2 HG00140.hp1 HG00673.hp2 HG01255.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG01993.hp1 HG02055.hp1 HG02074.hp1 HG02083.hp1 HG02630.hp1 HG02647.hp2 HG02896.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp2 HG03688.hp2 NA18747.hp1 NA18946.hp2 NA18953.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18993.hp2 NA19000.hp1 NA19003.hp2 NA19010.hp1 NA19056.hp2 NA19066.hp1 NA19068.hp2 NA19077.hp2 NA19082.hp1 NA19084.hp2	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0007 a0011 a0022	a0001c0001 a0001c0019 a0003c0002 others(6): Show a0001c0001 a0001c0019 a0003c0002 a0004c0004 a0004c0022 a0005c0021 a0007c0006 a0011c0018 a0022c0041	a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 others(10): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0012 a0001c0001t0033 a0001c0019t0003 a0003c0002t0001 a0003c0002t0003 a0004c0004t0001 a0004c0022t0007 a0005c0021t0009 a0007c0006t0005 a0011c0018t0005 a0022c0041t0013	a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0021 others(39): Show a0001c0001t0002g0001 a0001c0001t0002g0018 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0038 a0001c0001t0002g0087 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0124 a0001c0001t0002g0136 a0001c0001t0002g0140 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0161 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0173 a0001c0001t0008g0203 a0001c0001t0008g0210 a0001c0001t0012g0025 a0001c0001t0012g0078 a0001c0001t0033g0079 a0001c0019t0003g0211 a0003c0002t0001g0036 a0003c0002t0001g0041 a0003c0002t0001g0082 a0003c0002t0001g0100 a0003c0002t0001g0150 a0003c0002t0003g0206 a0004c0004t0001g0135 a0004c0022t0007g0158 a0005c0021t0009g0132 a0007c0006t0005g0047 a0011c0018t0005g0092 a0022c0041t0013g0097	42	45	0.9333	-32	c.324 others(51): Show c.324-58741_324-58710delTATATATATATATATATATATATATA TATATA	SHROOM3	ENSG00000138771.16	transcript	ENST00000296043.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
SHTN1_chr10_116876477_117010187	116963035	GTTTTTTT others(25): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02083.hp1 HG02155.hp1 others(6): Show HG01243.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02572.hp1 NA18747.hp1 NA18995.hp2 NA19001.hp1 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0035 a0001c0001t0036 a0001c0001t0044	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0264 others(6): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0004g0265 a0001c0001t0035g0283 a0001c0001t0036g0284 a0001c0001t0044g0012	9	12	0.7500	-32	c.173 others(49): Show c.173-2837_173-2806delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SHTN1	ENSG00000187164.20	transcript	ENST00000355371.9	protein_coding	3/16			chr10	TogoVar
SIGIRR_chr11_400716_419999	401321	GCCCGCTC others(25): Show GCCCGCTCACACCCGGCCCCGCTCACACCCGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01517.hp1 HG02615.hp1 others(3): Show HG00544.hp2 HG01517.hp1 HG02615.hp1 HG02895.hp1 NA18950.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0023 a0001c0001t0001g0132 a0001c0001t0001g0141 a0001c0001t0001g0172	6	112	0.0536	-32	c.45 others(43): Show c.4543_*4574delGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4394		chr11	TogoVar
SIGIRR_chr11_400716_419999	401630	GCCCCGCT others(25): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 NA20752.hp1 HG06807.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0186 a0001c0001t0001g0111 a0001c0001t0001g0186	2	231	0.0087	-32	c.42 others(43): Show c.4234_*4265delGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4085		chr11	TogoVar
SIM1_chr6_100380009_100469921	100412607	GAAAGGAA others(25): Show GAAAGGAAAGAAAGAAGGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0108 a0002c0002t0001g0108	1	313	0.0032	-32	c.116 others(51): Show c.1167+8151_1167+8182delTTTCTTTCTTTCTTTCCTTCTTTCTT TCCTTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	10/11			chr6	TogoVar
SIM1_chr6_100380009_100469921	100458006	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG02129.hp2 others(8): Show HG00280.hp2 HG00323.hp2 HG02129.hp2 NA18948.hp1 NA18966.hp1 NA18980.hp1 NA18995.hp2 NA18998.hp2 NA19054.hp2 NA19066.hp2 NA19083.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0006 a0001c0001 a0002c0002 a0006c0006	a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0002c0002t0001 a0002c0002t0007 a0006c0006t0004	a0001c0001t0004g0081 a0001c0001t0005g0091 a0001c0001t0005g0093 others(8): Show a0001c0001t0004g0081 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0011g0060 a0001c0001t0013g0069 a0001c0001t0013g0072 a0001c0001t0013g0073 a0002c0002t0001g0045 a0002c0002t0001g0086 a0002c0002t0007g0038 a0006c0006t0004g0090	11	50	0.2200	-32	c.176 others(49): Show c.176-4194_176-4163delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	2/11			chr6	TogoVar
SIPA1L2_chr1_232392965_232635133	232572658	AATACATA others(25): Show AATACATATATATATATATACACACACATATAC	A A	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp2 HG03942.hp1 others(1): Show HG03669.hp1 HG03669.hp2 HG03942.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0024 others(1): Show a0001c0001 a0001c0005 a0002c0024 a0003c0013	a0001c0001t0001 a0001c0005t0001 a0002c0024t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0002c0024t0001 a0003c0013t0002	a0001c0001t0001g0143 a0001c0005t0001g0176 a0002c0024t0001g0145 others(1): Show a0001c0001t0001g0143 a0001c0005t0001g0176 a0002c0024t0001g0145 a0003c0013t0002g0058	4	290	0.0138	-32	c.-27 others(51): Show c.-270+1484_-270+1515delGTATATGTGTGTGTATATATATATAT ATGTAT	SIPA1L2	ENSG00000116991.12	transcript	ENST00000674635.1	protein_coding	2/22			chr1	TogoVar
SIPA1L3_chr19_37902208_38213369	38178086	GGTGTGTG others(25): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0019 a0019	a0019c0027 a0019c0027	a0019c0027t0003 a0019c0027t0003	a0019c0027t0003g0075 a0019c0027t0003g0075	1	14	0.0714	-32	c.420 others(51): Show c.4209-4412_4209-4381delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SIPA1L3	ENSG00000105738.11	transcript	ENST00000222345.11	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
SIRT3_chr11_210030_241342	221870	TACCATCT others(25): Show TACCATCTGTACGTATGCATTTGTACAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00673.hp2 others(36): Show HG00140.hp2 HG00639.hp2 HG00673.hp2 HG00733.hp2 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01255.hp1 HG01361.hp2 HG02015.hp2 HG03491.hp1 HG03492.hp2 HG03831.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18946.hp2 NA18956.hp1 NA18974.hp1 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19003.hp2 NA19007.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19063.hp1 NA19068.hp2 NA19085.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0011 a0003c0003t0017 a0003c0003t0001 a0003c0003t0011 a0003c0003t0017	a0003c0003t0001g0004 a0003c0003t0001g0021 a0003c0003t0001g0039 others(21): Show a0003c0003t0001g0004 a0003c0003t0001g0021 a0003c0003t0001g0039 a0003c0003t0001g0040 a0003c0003t0001g0087 a0003c0003t0001g0088 a0003c0003t0001g0089 a0003c0003t0001g0090 a0003c0003t0001g0091 a0003c0003t0001g0092 a0003c0003t0001g0093 a0003c0003t0001g0094 a0003c0003t0001g0095 a0003c0003t0001g0096 a0003c0003t0001g0097 a0003c0003t0001g0098 a0003c0003t0001g0100 a0003c0003t0001g0101 a0003c0003t0001g0102 a0003c0003t0001g0103 a0003c0003t0001g0104 a0003c0003t0001g0105 a0003c0003t0011g0038 a0003c0003t0017g0099	39	412	0.0947	-32	c.969 others(49): Show c.969+2176_969+2207delTTTTTTTGTACAAATGCATACGTACAGA TGGT	SIRT3	ENSG00000142082.15	transcript	ENST00000382743.9	protein_coding	5/6			chr11	TogoVar
SI_chr3_164973898_165083496	165073170	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	15	0.0667	-32	c.255 others(49): Show c.255+1329_255+1360delGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	SI	ENSG00000090402.8	transcript	ENST00000264382.8	protein_coding	3/47			chr3	TogoVar
SKAP2_chr7_26662068_26869590	26713394	GCAATGGG others(25): Show GCAATGGGCTTTCAATAAATATTTGCTGGATGA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp1 HG02486.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0009 a0002c0002t0003 a0002c0002t0009	a0002c0002t0003g0209 a0002c0002t0009g0224 a0002c0002t0003g0209 a0002c0002t0009g0224	2	294	0.0068	-32	c.796 others(51): Show c.796+12002_796+12033delTCATCCAGCAAATATTTATTGAAAGC CCATTG	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	9/12			chr7	TogoVar
SKAP2_chr7_26662068_26869590	26741548	AAATAAAT others(25): Show AAATAAATAAATAAATAAATAAATAAATAAATT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01123.hp1 HG02922.hp2 others(15): Show HG00597.hp1 HG01123.hp1 HG02922.hp2 HG03486.hp2 HG03834.hp1 NA18942.hp1 NA18955.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp1 NA19006.hp2 NA19030.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19089.hp2 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0019 a0001c0001t0020	a0001c0001t0002g0235 a0001c0001t0004g0028 a0001c0001t0004g0029 others(15): Show a0001c0001t0002g0235 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0031 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0148 a0001c0001t0019g0108 a0001c0001t0020g0100	18	294	0.0612	-32	c.308 others(49): Show c.308-1616_308-1585delAATTTATTTATTTATTTATTTATTTATT TATT	SKAP2	ENSG00000005020.13	transcript	ENST00000345317.7	protein_coding	4/12			chr7	TogoVar
SKIL_chr3_170352715_170401835	170399007	GCTCACTG others(25): Show GCTCACTGCAACCTCCATCTCCTGGGTTCACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0052 a0002c0002t0052	a0002c0002t0052g0254 a0002c0002t0052g0254	1	360	0.0028	-32	c.65 others(43): Show c.6591_*6622delCTCACTGCAACCTCCATCTCCTGGGTTCACAC	SKIL	ENSG00000136603.15	transcript	ENST00000259119.9	protein_coding		2173		chr3	TogoVar
SKP1_chr5_134143935_134181950	134165027	ATTTTTTT others(25): Show ATTTTTTTTTTTGAGGGGGGAGGGTGTACCAAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02451.hp1 HG02615.hp2 others(12): Show HG01433.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03225.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0028 a0001c0001t0030 others(5): Show a0001c0001t0015 a0001c0001t0028 a0001c0001t0030 a0001c0001t0036 a0001c0001t0080 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090	a0001c0001t0015g0018 a0001c0001t0015g0046 a0001c0001t0015g0047 others(11): Show a0001c0001t0015g0018 a0001c0001t0015g0046 a0001c0001t0015g0047 a0001c0001t0015g0048 a0001c0001t0028g0226 a0001c0001t0028g0227 a0001c0001t0030g0260 a0001c0001t0030g0261 a0001c0001t0036g0220 a0001c0001t0036g0223 a0001c0001t0080g0228 a0001c0001t0088g0221 a0001c0001t0089g0219 a0001c0001t0090g0222	15	357	0.0420	-32	c.171 others(49): Show c.171+2111_171+2142delATTGGTACACCCTCCCCCCTCAAAAAAA AAAA	SKP1	ENSG00000113558.19	transcript	ENST00000353411.11	protein_coding	3/5			chr5	TogoVar
SLA2_chr20_36607318_36651196	36609187	ACACACAC others(25): Show ACACACACGCACACACGCACACACGCACACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02896.hp2 HG02897.hp1 others(3): Show HG02818.hp1 HG02896.hp2 HG02897.hp1 HG03471.hp2 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0336 a0001c0001t0001g0352	6	350	0.0171	-32	c.46 others(43): Show c.4647_*4678delCGTGTGTGCGTGTGTGCGTGTGTGCGTGTGTG	SLA2	ENSG00000101082.14	transcript	ENST00000262866.9	protein_coding		3130		chr20	TogoVar
SLAIN2_chr4_48336529_48431201	48412390	ACACACAC others(25): Show ACACACACACACACACACACACACACATTCCCT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18939.hp2 NA18942.hp1 others(8): Show HG02074.hp1 NA18939.hp2 NA18942.hp1 NA18950.hp1 NA18965.hp2 NA18969.hp2 NA18978.hp2 NA18984.hp1 NA18995.hp2 NA18999.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0241 a0001c0001t0004g0249 a0001c0001t0004g0251 others(8): Show a0001c0001t0004g0241 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0004g0259 a0001c0001t0004g0313 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0320 a0001c0001t0004g0331	11	346	0.0318	-32	c.136 others(51): Show c.1361-7733_1361-7702delACACACACACACACACACACACACAT TCCCTC	SLAIN2	ENSG00000109171.15	transcript	ENST00000264313.11	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLAMF7_chr1_160734247_160759821	160751844	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0006 a0003c0003t0006	a0003c0003t0006g0021 a0003c0003t0006g0021	1	436	0.0023	-32	c.874 others(47): Show c.874-340_874-309delCTCTCTCTCTCTCTCTCTATATATATATAT AT	SLAMF7	ENSG00000026751.17	transcript	ENST00000368043.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLBP_chr4_1687731_1717319	1707225	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01496.hp1 HG02027.hp2 others(8): Show HG00609.hp1 HG01496.hp1 HG02027.hp2 HG02602.hp1 HG03942.hp1 NA18942.hp1 NA18963.hp2 NA18973.hp1 NA18981.hp2 NA19000.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0191 others(5): Show a0001c0001t0001g0018 a0001c0001t0001g0036 a0001c0001t0001g0191 a0001c0001t0001g0196 a0001c0001t0001g0221 a0001c0001t0001g0229 a0001c0001t0001g0242 a0001c0001t0001g0243	11	12	0.9167	-32	c.177 others(49): Show c.177-3557_177-3526delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SLBP	ENSG00000163950.13	transcript	ENST00000489418.6	protein_coding	2/7			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837262	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGG	A A	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	348	0.0029	-32	c.378 others(49): Show c.378-3870_378-3839delCCTTTCTTTTTCTTTCTTTCTTTCTTTC TTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86837278	AGAAAGAA others(25): Show AGAAAGAAAAAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02818.hp2 HG02717.hp2 HG02818.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0038 a0004c0003t0003g0038	2	348	0.0057	-32	c.378 others(49): Show c.378-3886_378-3855delCCTTCCTTCCTTCCTTCCTTTCTTTTTC TTTC	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A6_chr4_86818468_86854384	86842786	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01168.hp2 HG01517.hp2 others(19): Show HG01071.hp1 HG01168.hp2 HG01517.hp2 HG01891.hp2 HG02056.hp2 HG02148.hp1 HG02809.hp1 HG03579.hp1 HG04115.hp2 NA18906.hp1 NA18944.hp1 NA18948.hp2 NA18951.hp1 NA18953.hp2 NA18957.hp1 NA18962.hp1 NA18962.hp2 NA19063.hp1 NA19074.hp1 NA19083.hp1 NA19240.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 others(19): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0159 a0001c0001t0001g0180	22	97	0.2268	-32	c.377 others(49): Show c.377+5921_377+5952delGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAA	SLC10A6	ENSG00000145283.8	transcript	ENST00000273905.7	protein_coding	1/5			chr4	TogoVar
SLC10A7_chr4_146248981_146526940	146519066	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA20129.hp2 HG02895.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0014 a0001c0001t0013 a0001c0001t0014	a0001c0001t0013g0130 a0001c0001t0014g0131 a0001c0001t0013g0130 a0001c0001t0014g0131	2	25	0.0800	-32	c.101 others(49): Show c.101-1978_101-1947delATATATATATATATATATATATATATAT ATAT	SLC10A7	ENSG00000120519.16	transcript	ENST00000335472.12	protein_coding	1/11			chr4	TogoVar
SLC12A1_chr15_48201302_48309078	48240018	TATATATA others(25): Show TATATATATATCCATATATATATATATATATCC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	264	0.0038	-32	c.121 others(51): Show c.1216-1486_1216-1455delCCATATATATATATATATATCCATAT ATATAT	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr15	TogoVar

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