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
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(15): Show AAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0229 a0001c0001t0011g0229	1	346	0.0029	22	c.281 others(39): Show c.281-1161_281-1160insATATATATATATATATTTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(15): Show GATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02809.hp2 HG02886.hp1 others(6): Show HG00642.hp1 HG02809.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp1 HG03130.hp2 HG03710.hp2 HG04228.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0020	a0001c0001t0002g0171 a0001c0001t0002g0265 a0001c0003t0001g0099 others(6): Show a0001c0001t0002g0171 a0001c0001t0002g0265 a0001c0003t0001g0099 a0001c0003t0002g0163 a0001c0003t0002g0217 a0002c0002t0003g0209 a0002c0002t0004g0044 a0002c0002t0004g0144 a0002c0002t0020g0274	9	310	0.0290	22	c.199 others(39): Show c.199-5852_199-5851insGATAGATAGATAGATATAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5E_chr9_136423619_136444845	136430882	G G	GAGCTGAG others(15): Show GAGCTGAGTTTCAAGGGTGCAGA	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0107 a0001c0001t0022g0107	1	382	0.0026	22	c.166 others(39): Show c.1665+119_1665+120insTCTGCACCCTTGAAACTCAGCT	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	8/9			chr9	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 NA19082.hp2 NA21309.hp2 HG02602.hp2 NA19082.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0003 a0002c0002t0002 a0001c0003t0003 a0002c0002t0002	a0001c0003t0003g0313 a0002c0002t0002g0243 a0002c0002t0002g0264 a0001c0003t0003g0313 a0002c0002t0002g0243 a0002c0002t0002g0264	3	328	0.0092	22	c.315 others(39): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5F_chr10_119721050_119834147	119785535	C C	CGAGAGAG others(15): Show CGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 NA18968.hp1 others(2): Show HG00735.hp2 HG01255.hp1 NA18968.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0006 a0001c0001t0001 a0002c0002t0002 a0002c0002t0006	a0001c0001t0001g0161 a0002c0002t0002g0243 a0002c0002t0002g0265 others(2): Show a0001c0001t0001g0161 a0002c0002t0002g0243 a0002c0002t0002g0265 a0002c0002t0006g0224 a0002c0002t0006g0271	5	328	0.0152	22	c.315 others(39): Show c.315+3787_315+3808dupGAGAGAGAGAGAGAGAGAGAGA	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INPP5J_chr22_31117966_31139697	31121049	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0100 a0001c0003t0001g0100	1	422	0.0024	22	c.-19 others(33): Show c.-1966_-1965insTTTTTTTTTTTTTTTTTTTTTT	INPP5J	ENSG00000185133.14	transcript	ENST00000331075.10	protein_coding		1916		chr22	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	270	0.0037	22	c.-19 others(33): Show c.-1906_-1905insTCTTTCTTTCTTTCTCTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG03195.hp1 others(1): Show HG02976.hp1 HG03139.hp2 HG03195.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024	a0001c0001t0001g0149 a0001c0001t0002g0244 a0001c0001t0008g0148 others(1): Show a0001c0001t0001g0149 a0001c0001t0002g0244 a0001c0001t0008g0148 a0001c0001t0024g0046	4	270	0.0148	22	c.-19 others(33): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSC_chr11_15109923_15252208	15116798	T T	TCTTTTCT others(15): Show TCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0240 a0001c0003t0004g0240	1	270	0.0037	22	c.-46 others(39): Show c.-46+1795_-46+1796insCTTTTCTTTCTTTCTTTCTTTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12			chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0009 a0003c0005t0009	a0003c0005t0009g0112 a0003c0005t0009g0112	1	270	0.0037	22	c.-46 others(39): Show c.-46+1847_-46+1848insTTCTTTCTTTCTCTCTCTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	270	0.0037	22	c.-46 others(39): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTTCTCTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02615.hp2 HG01993.hp1 HG02615.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0017 a0001c0001 a0002c0017	a0001c0001t0001 a0002c0017t0001 a0001c0001t0001 a0002c0017t0001	a0001c0001t0001g0157 a0002c0017t0001g0156 a0001c0001t0001g0157 a0002c0017t0001g0156	2	270	0.0074	22	c.-46 others(39): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTTCTTTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247733	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG01516.hp2 HG01517.hp2 others(6): Show HG01433.hp1 HG01516.hp2 HG01517.hp2 HG02451.hp1 HG02647.hp1 HG02970.hp1 HG03098.hp2 HG03490.hp1 NA19043.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0002 a0001c0018 others(2): Show a0001c0001 a0001c0002 a0001c0018 a0003c0005 a0007c0014	a0001c0001t0004 a0001c0001t0006 a0001c0002t0006 others(3): Show a0001c0001t0004 a0001c0001t0006 a0001c0002t0006 a0001c0018t0006 a0003c0005t0009 a0007c0014t0004	a0001c0001t0004g0223 a0001c0001t0006g0007 a0001c0001t0006g0060 others(6): Show a0001c0001t0004g0223 a0001c0001t0006g0007 a0001c0001t0006g0060 a0001c0001t0006g0116 a0001c0001t0006g0117 a0001c0002t0006g0258 a0001c0018t0006g0230 a0003c0005t0009g0052 a0007c0014t0004g0026	9	270	0.0333	22	c.16 others(33): Show c.1693_*1694insTATATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		526		chr11	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03704.hp1 NA18945.hp2 others(7): Show HG02622.hp2 HG03704.hp1 NA18945.hp2 NA18967.hp1 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA19002.hp1 NA19083.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0001t0001g0000 a0001c0002t0001g0000	10	402	0.0249	22	c.50 others(33): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSR_chr19_7107265_7299414	7136828	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02257.hp2 HG02976.hp2 others(1): Show HG01109.hp2 HG02257.hp2 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0012 a0001c0028 a0001c0058 others(1): Show a0001c0012 a0001c0028 a0001c0058 a0001c0059	a0001c0012t0112 a0001c0028t0082 a0001c0058t0123 others(1): Show a0001c0012t0112 a0001c0028t0082 a0001c0058t0123 a0001c0059t0013	a0001c0012t0112g0145 a0001c0028t0082g0115 a0001c0058t0123g0114 others(1): Show a0001c0012t0112g0145 a0001c0028t0082g0115 a0001c0058t0123g0114 a0001c0059t0013g0187	4	300	0.0133	22	c.268 others(41): Show c.2683-4512_2683-4511insATATATATATATATATATATAT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	13/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7163948	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02559.hp1 HG03579.hp1 HG02280.hp2 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0033 a0001c0005 a0001c0033	a0001c0005t0019 a0001c0005t0028 a0001c0033t0088 a0001c0005t0019 a0001c0005t0028 a0001c0033t0088	a0001c0005t0019g0045 a0001c0005t0028g0116 a0001c0033t0088g0098 a0001c0005t0019g0045 a0001c0005t0028g0116 a0001c0033t0088g0098	3	300	0.0100	22	c.186 others(39): Show c.1862-750_1862-749insATTTTTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	8/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01928.hp2 HG02735.hp2 others(1): Show HG01081.hp1 HG01928.hp2 HG02735.hp2 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0022 others(1): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0022 a0001c0002t0083	a0001c0002t0001g0135 a0001c0002t0005g0231 a0001c0002t0022g0003 others(1): Show a0001c0002t0001g0135 a0001c0002t0005g0231 a0001c0002t0022g0003 a0001c0002t0083g0227	4	300	0.0133	22	c.653 others(41): Show c.653-12878_653-12877insACACACACACACACACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73731323	T T	TCCCCTCC others(15): Show TCCCCTCCCCCTTCCCCTTCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0052 a0001c0001t0037g0052	1	406	0.0025	22	c.85 others(33): Show c.8593_*8594insGGGGAAGGGGAAGGGGGAGGGG	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding		4134		chr15	TogoVar
INSYN1_chr15_73730458_73758351	73743828	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0210 a0001c0001t0099g0210	1	406	0.0025	22	c.157 others(39): Show c.157-3208_157-3187dupTTTTTTTTTTTTTTTTTTTTTT	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2			chr15	TogoVar
INSYN2B_chr5_169856303_169985495	169961978	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02129.hp1 HG02257.hp2 others(5): Show HG00423.hp1 HG02129.hp1 HG02257.hp2 HG02622.hp2 HG02630.hp2 HG03225.hp2 NA18967.hp1 NA18990.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0005	a0001c0001t0002g0146 a0001c0001t0003g0082 a0001c0001t0003g0097 others(5): Show a0001c0001t0002g0146 a0001c0001t0003g0082 a0001c0001t0003g0097 a0001c0001t0003g0145 a0002c0002t0001g0142 a0002c0002t0001g0144 a0002c0002t0005g0006 a0002c0002t0005g0218	8	318	0.0252	22	c.-91 others(43): Show c.-919+18298_-919+18299insTTTTTTTTTTTTTTTTTTTTTT	INSYN2B	ENSG00000204767.4	transcript	ENST00000377365.4	protein_coding	1/3			chr5	TogoVar
INTS12_chr4_105677627_105713689	105700706	A A	AACACACA others(15): Show AACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02976.hp2 HG02523.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0177 a0001c0001t0001g0097 a0001c0001t0001g0177	2	312	0.0064	22	c.-9- others(35): Show c.-9-714_-9-693dupGTGTGTGTGTGTGTGTGTGTGT	INTS12	ENSG00000138785.16	transcript	ENST00000340139.10	protein_coding	2/7			chr4	TogoVar
INTS2_chr17_61860367_61932982	61922511	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA19087.hp1 NA18985.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0310 a0001c0001t0002g0184 a0001c0001t0002g0310	2	366	0.0055	22	c.433 others(37): Show c.433-706_433-685dupATATATATATATATATATATAT	INTS2	ENSG00000108506.14	transcript	ENST00000251334.7	protein_coding	3/24			chr17	TogoVar
INTS3_chr1_153723050_153779808	153742478	C C	CTCTGTGT others(15): Show CTCTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0041 a0001c0002t0002g0041	1	349	0.0029	22	c.318 others(39): Show c.318+1111_318+1112insCTGTGTGTGTGTGTGTGTGTGT	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
INTS3_chr1_153723050_153779808	153742478	C C	CTGTGTGT others(15): Show CTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0042 a0001c0002t0002g0042	1	349	0.0029	22	c.318 others(39): Show c.318+1119_318+1140dupTGTGTGTGTGTGTGTGTGTGTG	INTS3	ENSG00000143624.14	transcript	ENST00000318967.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
INTS4_chr11_77873720_77999668	77935903	A A	AAAAAAAA others(15): Show AAAAAAAAAGAAAAGAAAGAGAG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	362	0.0028	22	c.116 others(41): Show c.1165+2747_1165+2748insCTCTCTTTCTTTTCTTTTTTTT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	10/22			chr11	TogoVar
INTS6_chr13_51356577_51458036	51404103	C C	CACACACA others(15): Show CACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	358	0.0028	22	c.430 others(39): Show c.430-8621_430-8620insCTGTGTGTGTGTGTGTGTGTGT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTS7_chr1_211935403_212040557	211974308	T T	TATATATA others(15): Show TATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	352	0.0028	22	c.181 others(39): Show c.1815+857_1815+858insTTATATATATATATATATATAT	INTS7	ENSG00000143493.13	transcript	ENST00000366994.8	protein_coding	13/19			chr1	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18972.hp1 NA18978.hp2 NA18942.hp2 NA18972.hp1 NA18978.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0011 a0002c0003t0003 a0002c0003t0011	a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0011g0284 a0002c0003t0003g0316 a0002c0003t0003g0317 a0002c0003t0011g0284	3	358	0.0084	22	c.144 others(41): Show c.1449+4114_1449+4115insATATATATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTGTGT others(15): Show GTGTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp1 NA18522.hp2 HG02976.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0068 a0001c0001t0010 a0001c0001t0068	a0001c0001t0010g0008 a0001c0001t0068g0128 a0001c0001t0010g0008 a0001c0001t0068g0128	3	358	0.0084	22	c.144 others(41): Show c.1449+4096_1449+4097insGTGTGTATATATATATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INVS_chr9_100094243_100307175	100133764	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03239.hp2 NA20129.hp1 HG02559.hp2 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0129 a0001c0002t0001g0172 a0001c0002t0001g0180	3	182	0.0165	22	c.273 others(39): Show c.273+7235_273+7256dupCACACACACACACACACACACA	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
INVS_chr9_100094243_100307175	100154331	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA18906.hp2 HG02717.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0026 a0001c0001t0007 a0001c0001t0026	a0001c0001t0007g0028 a0001c0001t0026g0029 a0001c0001t0007g0028 a0001c0001t0026g0029	2	182	0.0110	22	c.273 others(41): Show c.273+27789_273+27810dupTTTTTTTTTTTTTTTTTTTTTT	INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00544.hp1 others(17): Show HG00140.hp1 HG00140.hp2 HG00544.hp1 HG00544.hp2 HG01106.hp1 HG01109.hp1 HG01346.hp2 HG02280.hp2 HG02735.hp2 HG02886.hp1 HG03098.hp2 HG03225.hp2 HG04228.hp2 NA18953.hp1 NA18971.hp1 NA18979.hp1 NA18982.hp2 NA19065.hp1 NA19072.hp1 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0012 a0002c0002t0001 a0001c0001t0001 a0001c0001t0012 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0041 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0012g0024 a0002c0002t0001g0057	20	260	0.0769	22	c.616 others(37): Show c.616+903_616+904insTTTTTTTTTTTTTTTTTTTTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01346.hp1 others(20): Show HG00323.hp2 HG01106.hp2 HG01346.hp1 HG01884.hp1 HG01952.hp1 HG02258.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp2 HG03490.hp1 HG03492.hp1 NA18953.hp2 NA18967.hp1 NA18979.hp1 NA18983.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19063.hp1 NA19065.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0002c0002t0001 a0003c0003t0002	a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0055 others(20): Show a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0123 a0001c0001t0001g0142 a0001c0001t0002g0181 a0001c0001t0002g0187 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0004g0014 a0001c0001t0008g0137 a0002c0002t0001g0057 a0003c0003t0002g0242	23	260	0.0885	22	c.-12 others(41): Show c.-129+6023_-129+6044dupGTGTGTGTGTGTGTGTGTGTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49790111	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0178 a0001c0001t0002g0178	1	260	0.0039	22	c.-38 others(33): Show c.-3887_-3886insGAGAGAGAGAGAGAGAGAGAGA	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding		3570		chr3	TogoVar
IP6K3_chr6_33716662_33751905	33749421	T T	TCCACTTC others(15): Show TCCACTTCCATCCCAACAATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0117 a0001c0002t0007g0117	1	366	0.0027	22	c.-28 others(33): Show c.-2844_-2843insGTGATTGTTGGGATGGAAGTGG	IP6K3	ENSG00000161896.12	transcript	ENST00000293756.5	protein_coding		2517		chr6	TogoVar
IP6K3_chr6_33716662_33751905	33751483	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0122 a0001c0003t0019g0122	1	366	0.0027	22	c.-49 others(33): Show c.-4906_-4905insACACACACACACACACACACAC	IP6K3	ENSG00000161896.12	transcript	ENST00000293756.5	protein_coding		4579		chr6	TogoVar
IPCEF1_chr6_154149496_154361803	154331405	A A	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19078.hp2 NA19010.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0203 a0001c0001t0006g0217 a0001c0001t0002g0203 a0001c0001t0006g0217	2	264	0.0076	22	c.-62 others(41): Show c.-62+25266_-62+25267insCTTTCTTTCTTTCTTTCTTTCT	IPCEF1	ENSG00000074706.14	transcript	ENST00000367220.9	protein_coding	1/11			chr6	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0269 a0001c0001t0005g0269	1	346	0.0029	22	c.546 others(39): Show c.546+4222_546+4243dupTTTTTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPMK_chr10_58186517_58272894	58259671	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01099.hp2 others(12): Show HG00323.hp1 HG01081.hp1 HG01099.hp2 HG02300.hp1 HG02970.hp2 HG02976.hp2 HG03834.hp2 HG04199.hp1 NA18947.hp1 NA18948.hp2 NA18969.hp2 NA19001.hp1 NA19005.hp2 NA19090.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0015 a0001c0001t0018	a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0102 others(12): Show a0001c0001t0001g0019 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0007g0101 a0001c0001t0015g0136 a0001c0001t0018g0140	15	346	0.0434	22	c.190 others(39): Show c.190+7750_190+7751insTTTTTTTTTTTTTTTTTTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	1/5			chr10	TogoVar
IPO11_chr5_62407763_62633582	62435110	G G	GTATATAT others(15): Show GTATATATATGTATATATATGTA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19009.hp1 NA19087.hp1 NA18951.hp1 NA19009.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0096 a0001c0001t0002g0140 a0001c0001t0002g0160 a0001c0001t0002g0096 a0001c0001t0002g0140 a0001c0001t0002g0160	3	330	0.0091	22	c.-6- others(37): Show c.-6-2157_-6-2156insATGTATATATATGTATATATAT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO11_chr5_62407763_62633582	62470816	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA18980.hp2 NA19009.hp1 HG01496.hp1 NA18980.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0160 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0160	3	330	0.0091	22	c.708 others(37): Show c.708+516_708+537dupTTTTTTTTTTTTTTTTTTTTTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02615.hp2 others(12): Show HG02258.hp2 HG02280.hp2 HG02615.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG04184.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 others(12): Show a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0214	15	380	0.0395	22	c.205 others(39): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	314	0.0032	22	c.85- others(37): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(15): Show AAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	314	0.0032	22	c.85- others(37): Show c.85-5948_85-5947insAAAAAAAAAATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAATA others(15): Show AAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	314	0.0032	22	c.85- others(37): Show c.85-5948_85-5947insAAAATATATATATATATATATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397361	T T	TATATATA others(15): Show TATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	314	0.0032	22	c.85- others(37): Show c.85-5925_85-5924insATATATATATATATATTAATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9432989	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0220 a0001c0001t0004g0220	1	314	0.0032	22	c.188 others(39): Show c.1882-565_1882-564insTTTTTTTTTTTTTTTTTTTTTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436842	T T	TTATATAT others(15): Show TTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18978.hp1 NA18974.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0068 a0001c0001t0001g0029 a0001c0001t0001g0068	2	314	0.0064	22	c.226 others(39): Show c.2268+482_2268+503dupATATATATATATATATATATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18994.hp2 HG01109.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0007 a0001c0001t0001g0054	2	314	0.0064	22	c.226 others(39): Show c.2268+503_2268+504insATATATATATATATATATATTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	314	0.0032	22	c.226 others(39): Show c.2268+503_2268+504insATATATATATATATTTTTTTTT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar

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