Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

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
IQCJ_chr3_159064319_159268747	159200030	C C	CTATATAT others(11): Show CTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02083.hp2 HG02132.hp2 others(4): Show HG01255.hp2 HG02083.hp2 HG02132.hp2 HG02723.hp2 HG03491.hp1 HG06807.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0043 others(3): Show a0001c0001t0002g0012 a0001c0001t0002g0037 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0166 a0001c0001t0007g0001	7	252	0.0278	18	c.10- others(35): Show c.10-45812_10-45795dupTATATATATATATATATA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03540.hp2 HG02486.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0244 a0001c0001t0002g0009 a0001c0001t0001g0244 a0001c0001t0002g0009	2	252	0.0079	18	c.10- others(35): Show c.10-45723_10-45722insATATATATATATATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159249902	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp1 HG01071.hp1 others(4): Show HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01256.hp2 HG03239.hp2 HG03669.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 others(4): Show a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0209	7	252	0.0278	18	c.75- others(33): Show c.75-2818_75-2801dupACACACACACACACACAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0147 a0001c0001t0010g0147	1	244	0.0041	18	c.690 others(35): Show c.690+9500_690+9501insAAAAAAAATATATATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCK_chr16_19713271_19863467	19861087	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG02055.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0033 a0001c0001t0005g0044 a0001c0001t0005g0033 a0001c0001t0005g0044	2	244	0.0082	18	c.45 others(29): Show c.4539_*4540insAAAAAAAAAAAAAAAAAA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding		2621		chr16	TogoVar
IQCM_chr4_149346709_149820843	149486017	G G	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18988.hp1 NA18989.hp2 others(2): Show HG04228.hp1 NA18988.hp1 NA18989.hp2 NA19056.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0054 a0001c0001t0002g0088 a0001c0001t0002g0168 others(2): Show a0001c0001t0002g0054 a0001c0001t0002g0088 a0001c0001t0002g0168 a0001c0001t0002g0204 a0001c0002t0002g0125	5	252	0.0198	18	c.122 others(39): Show c.1229-52478_1229-52461dupGAGAGAGAGAGAGAGAGA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149619107	G G	GATATATA others(11): Show GATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp1 HG02258.hp2 others(4): Show HG01884.hp1 HG02055.hp1 HG02258.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0006 a0001c0001 a0001c0004 a0004c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0004c0006t0001	a0001c0001t0001g0102 a0001c0001t0001g0190 a0001c0001t0002g0104 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0190 a0001c0001t0002g0104 a0001c0004t0001g0194 a0001c0004t0001g0224 a0001c0004t0001g0225 a0004c0006t0001g0008	7	252	0.0278	18	c.681 others(35): Show c.681+2004_681+2021dupATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	8/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA19079.hp2 HG03540.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0215 a0001c0001t0001g0027 a0001c0001t0001g0215	2	252	0.0079	18	c.566 others(35): Show c.566-5149_566-5148insATATATATATATATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQCN_chr19_18252098_18279452	18275121	G G	GCTGGGGG others(11): Show GCTGGGGGTTGCCGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0028 a0028	a0028c0047 a0028c0047	a0028c0047t0002 a0028c0047t0002	a0028c0047t0002g0311 a0028c0047t0002g0311	1	434	0.0023	18	c.-82 others(27): Show c.-829_-828insTGTCCCGGCAACCCCCAG	IQCN	ENSG00000130518.18	transcript	ENST00000392413.5	protein_coding		670		chr19	TogoVar
IQGAP1_chr15_90383242_90507239	90397880	T T	TCTTTTCT others(11): Show TCTTTTCTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0346 a0001c0002t0003g0346	1	360	0.0028	18	c.155 others(35): Show c.155+7007_155+7008insCTTTTCTTTTTTTTTTTC	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	2/37			chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76426905	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00733.hp2 HG00738.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0002 a0003c0004t0002 a0001c0002t0002 a0003c0004t0002	a0001c0002t0002g0117 a0003c0004t0002g0202 a0001c0002t0002g0117 a0003c0004t0002g0202	2	222	0.0090	18	c.46+ others(35): Show c.46+23328_46+23345dupTGTGTGTGTGTGTGTGTG	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610050	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02165.hp1 HG02717.hp1 others(6): Show HG02135.hp2 HG02165.hp1 HG02717.hp1 HG03017.hp2 HG04184.hp2 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0002 a0002c0001 a0004c0005 others(1): Show a0001c0002 a0002c0001 a0004c0005 a0006c0008	a0001c0002t0005 a0002c0001t0004 a0002c0001t0006 others(6): Show a0001c0002t0005 a0002c0001t0004 a0002c0001t0006 a0002c0001t0007 a0002c0001t0008 a0002c0001t0012 a0004c0005t0006 a0004c0005t0012 a0006c0008t0003	a0001c0002t0005g0052 a0002c0001t0004g0072 a0002c0001t0006g0022 others(6): Show a0001c0002t0005g0052 a0002c0001t0004g0072 a0002c0001t0006g0022 a0002c0001t0007g0058 a0002c0001t0008g0012 a0002c0001t0012g0081 a0004c0005t0006g0020 a0004c0005t0012g0159 a0006c0008t0003g0120	9	222	0.0405	18	c.135 others(35): Show c.1358-960_1358-943dupCTCTCTCTCTCTCTCTCT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76610076	C C	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0009 a0001c0041t0009	a0001c0041t0009g0172 a0001c0041t0009g0172	1	222	0.0045	18	c.135 others(35): Show c.1358-943_1358-942insCTCTCTCTCTCTCTCTAT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	12/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0207 a0006c0008t0001g0207	1	222	0.0045	18	c.209 others(37): Show c.2094+3197_2094+3214dupTTTTTTTTTTTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76699719	T T	TTCTCTCT others(11): Show TTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp2 HG03688.hp1 others(1): Show HG01978.hp1 HG01978.hp2 HG03688.hp1 HG03831.hp2	a0002 a0004 a0019 a0002 a0004 a0019	a0002c0001 a0004c0005 a0019c0047 a0002c0001 a0004c0005 a0019c0047	a0002c0001t0004 a0004c0005t0004 a0004c0005t0008 others(1): Show a0002c0001t0004 a0004c0005t0004 a0004c0005t0008 a0019c0047t0004	a0002c0001t0004g0171 a0004c0005t0004g0163 a0004c0005t0008g0003 others(1): Show a0002c0001t0004g0171 a0004c0005t0004g0163 a0004c0005t0008g0003 a0019c0047t0004g0189	4	222	0.0180	18	c.436 others(37): Show c.4368-1356_4368-1339dupTCTCTCTCTCTCTCTCTC	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	33/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP3_chr1_156520405_156577565	156547388	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0003 a0003c0017t0003	a0003c0017t0003g0203 a0003c0017t0003g0203	1	340	0.0029	18	c.230 others(35): Show c.2304+667_2304+684dupGTGTGTGTGTGTGTGTGT	IQGAP3	ENSG00000183856.11	transcript	ENST00000361170.7	protein_coding	19/37			chr1	TogoVar
IQSEC1_chr3_12892043_13078429	13038260	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0000 a0000	a0000c0002 a0000c0002	a0000c0002t0002 a0000c0002t0002	a0000c0002t0002g0158 a0000c0002t0002g0158	1	250	0.0040	18	c.23+ others(35): Show c.23+34731_23+34732insTATATATATATATATATA	IQSEC1	ENSG00000144711.17	transcript	ENST00000613206.2	protein_coding	1/13			chr3	TogoVar
IQSEC2_chrX_53227876_53326350	53311121	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01243.hp1 others(18): Show HG00621.hp1 HG00673.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01891.hp2 HG02056.hp1 HG02074.hp1 HG02622.hp1 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG04199.hp1 NA18955.hp1 NA18968.hp2 NA18974.hp1 NA18979.hp1 NA19058.hp1 NA19067.hp1 NA19091.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0006 a0001c0001 a0001c0008 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0006t0001	a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0063 others(18): Show a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0212 a0001c0001t0002g0012 a0001c0008t0001g0062 a0002c0006t0001g0068	21	213	0.0986	18	c.707 others(35): Show c.707+9295_707+9296insTTTTTTTTTTTTTTTTTT	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	1/14			chrX	TogoVar
IQSEC3_chr12_61767_183455	126544	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02280.hp1 HG02630.hp1 others(3): Show HG01255.hp2 HG02280.hp1 HG02630.hp1 NA18942.hp2 NA18947.hp2 NA20129.hp2	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0011	a0001c0003 a0001c0004 a0001c0042 others(3): Show a0001c0003 a0001c0004 a0001c0042 a0003c0005 a0005c0031 a0011c0058	a0001c0003t0002 a0001c0004t0058 a0001c0042t0001 others(3): Show a0001c0003t0002 a0001c0004t0058 a0001c0042t0001 a0003c0005t0013 a0005c0031t0001 a0011c0058t0027	a0001c0003t0002g0219 a0001c0004t0058g0185 a0001c0042t0001g0243 others(3): Show a0001c0003t0002g0219 a0001c0004t0058g0185 a0001c0042t0001g0243 a0003c0005t0013g0036 a0005c0031t0001g0057 a0011c0058t0027g0272	6	282	0.0213	18	c.903 others(33): Show c.903+644_903+661dupTGTGTGTGTGTGTGTGTG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG1_chr11_10568095_10698755	10584548	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02647.hp2 NA18612.hp1 HG00099.hp1 HG02647.hp2 NA18612.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0004 a0006c0009 a0001c0001 a0003c0004 a0006c0009	a0001c0001t0012 a0003c0004t0006 a0006c0009t0006 a0001c0001t0012 a0003c0004t0006 a0006c0009t0006	a0001c0001t0012g0219 a0003c0004t0006g0124 a0006c0009t0006g0106 a0001c0001t0012g0219 a0003c0004t0006g0124 a0006c0009t0006g0106	3	278	0.0108	18	c.224 others(37): Show c.2241-2580_2241-2563dupATATATATATATATATAT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	18/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10622876	G G	GACACACA others(11): Show GACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01943.hp2 HG02109.hp2 others(8): Show HG01243.hp2 HG01943.hp2 HG02109.hp2 HG02615.hp2 HG02630.hp1 HG02895.hp1 HG02896.hp1 HG03130.hp2 HG03471.hp2 HG03579.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0005 a0002c0003 a0004c0007 others(2): Show a0001c0005 a0002c0003 a0004c0007 a0005c0044 a0010c0021	a0001c0005t0001 a0001c0005t0004 a0001c0005t0025 others(4): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0025 a0002c0003t0004 a0004c0007t0005 a0005c0044t0004 a0010c0021t0001	a0001c0005t0001g0231 a0001c0005t0001g0234 a0001c0005t0001g0236 others(8): Show a0001c0005t0001g0231 a0001c0005t0001g0234 a0001c0005t0001g0236 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0004g0238 a0001c0005t0025g0222 a0002c0003t0004g0043 a0004c0007t0005g0264 a0005c0044t0004g0225 a0010c0021t0001g0221	11	278	0.0396	18	c.144 others(35): Show c.1447+884_1447+901dupGTGTGTGTGTGTGTGTGT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10634753	T T	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0098 a0001c0001t0003g0098	1	278	0.0036	18	c.226 others(33): Show c.226-700_226-683dupCACACACACACACACACA	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	2/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680534	A A	AGGAAGGG others(11): Show AGGAAGGGGAAGGGGAAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0012 a0013c0020t0012	a0013c0020t0012g0087 a0013c0020t0012g0087	1	278	0.0036	18	c.67+ others(35): Show c.67+12984_67+13001dupCCTTCCCCTTCCCCTTCC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25077231	T T	TATATATG others(11): Show TATATATGAAATATATATG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0311 a0002c0002t0001g0311	1	344	0.0029	18	c.25- others(33): Show c.25-2007_25-2006insGAAATATATATGATATAT	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK1BP1_chr6_78862551_78908102	78893308	G G	GTATATAT others(11): Show GTATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19058.hp2 NA19057.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0190 a0001c0001t0013g0225 a0001c0001t0002g0190 a0001c0001t0013g0225	2	346	0.0058	18	c.382 others(35): Show c.382-4520_382-4519insATATATATATATATATAT	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
IRAK1BP1_chr6_78862551_78908102	78898411	A A	AATATATA others(11): Show AATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG01175.hp1 others(24): Show HG00140.hp1 HG00642.hp1 HG01175.hp1 HG02523.hp2 HG02698.hp2 HG02818.hp1 HG02886.hp2 HG03017.hp1 HG03491.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18955.hp1 NA18959.hp2 NA18978.hp2 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA19000.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19085.hp1 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0036 a0001c0002t0022 others(2): Show a0001c0001t0002 a0001c0001t0036 a0001c0002t0022 a0001c0002t0035 a0001c0002t0065	a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0148 others(23): Show a0001c0001t0002g0009 a0001c0001t0002g0026 a0001c0001t0002g0148 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0197 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0036g0018 a0001c0002t0022g0034 a0001c0002t0022g0248 a0001c0002t0022g0272 a0001c0002t0022g0276 a0001c0002t0035g0277 a0001c0002t0035g0278 a0001c0002t0065g0279	27	346	0.0780	18	c.94 others(26): Show c.94_*111dupATATATATATATATATAT	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding	4/4	112	INFO_REALIGN_3_PRIME	chr6	TogoVar
IRAK2_chr3_10159919_10248745	10162872	T T	TTATATAT others(11): Show TTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	292	0.0034	18	c.-20 others(29): Show c.-2083_-2082insTATATATATATATATATA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding		2046		chr3	TogoVar
IRAK2_chr3_10159919_10248745	10215751	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0210 a0004c0005t0001g0210	1	292	0.0034	18	c.789 others(35): Show c.789-1177_789-1160dupCACACACACACACACACA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK2_chr3_10159919_10248745	10240537	G G	GCCCCCCC others(11): Show GCCCCCCCCCCCTCCCCCC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0003 a0011c0022t0003	a0011c0022t0003g0126 a0011c0022t0003g0126	1	292	0.0034	18	c.176 others(37): Show c.1765+1509_1765+1510insTCCCCCCCCCCCCCCCCC	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
IRAK3_chr12_66184214_66259622	66215788	A A	AAGTGCAC others(11): Show AAGTGCACGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02965.hp1 HG02922.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0032 a0002c0003t0001 a0002c0002t0032 a0002c0003t0001	a0002c0002t0032g0021 a0002c0003t0001g0029 a0002c0002t0032g0021 a0002c0003t0001g0029	2	346	0.0058	18	c.589 others(35): Show c.589-1383_589-1382insAGTGCACGTGCGCGCGCG	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11			chr12	TogoVar
IRAK3_chr12_66184214_66259622	66215788	A A	ACGTGCAC others(11): Show ACGTGCACGTGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00673.hp2 HG00741.hp1 others(16): Show HG00323.hp1 HG00673.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01515.hp2 HG02165.hp2 HG03139.hp1 HG03669.hp2 HG04228.hp1 NA18943.hp1 NA18945.hp1 NA18954.hp1 NA18977.hp1 NA18979.hp2 NA19012.hp2 NA19085.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0027 a0001c0001t0050 a0001c0001t0085 a0001c0001t0087 a0001c0001t0096	a0001c0001t0001g0071 a0001c0001t0003g0004 a0001c0001t0003g0053 others(16): Show a0001c0001t0001g0071 a0001c0001t0003g0004 a0001c0001t0003g0053 a0001c0001t0003g0084 a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0004g0062 a0001c0001t0005g0316 a0001c0001t0007g0307 a0001c0001t0011g0043 a0001c0001t0012g0094 a0001c0001t0013g0081 a0001c0001t0017g0281 a0001c0001t0027g0082 a0001c0001t0027g0083 a0001c0001t0050g0296 a0001c0001t0085g0295 a0001c0001t0087g0315 a0001c0001t0096g0117	19	346	0.0549	18	c.589 others(35): Show c.589-1382_589-1381insGTGCACGTGCGCGCGCGC	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK4_chr12_43753951_43794541	43775874	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02647.hp2 NA19240.hp2 HG02486.hp1 HG02647.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0008 a0002c0002t0031 a0002c0002t0006 a0002c0002t0008 a0002c0002t0031	a0002c0002t0006g0027 a0002c0002t0008g0027 a0002c0002t0031g0060 a0002c0002t0006g0027 a0002c0002t0008g0027 a0002c0002t0031g0060	3	354	0.0085	18	c.717 others(35): Show c.717-1748_717-1731dupTTTTTTTTTTTTTTTTTT	IRAK4	ENSG00000198001.16	transcript	ENST00000613694.5	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IREB2_chr15_78433216_78506453	78434344	G G	GCACACAC others(11): Show GCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	420	0.0024	18	c.-39 others(29): Show c.-3994_-3993insCACACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3871		chr15	TogoVar
IREB2_chr15_78433216_78506453	78434344	G G	GCGCACAC others(11): Show GCGCACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01081.hp2 HG00733.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0003 a0001c0002t0017	a0001c0002t0003g0215 a0001c0002t0017g0216 a0001c0002t0003g0215 a0001c0002t0017g0216	2	420	0.0048	18	c.-39 others(29): Show c.-3994_-3993insCGCACACACACACACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3871		chr15	TogoVar
IREB2_chr15_78433216_78506453	78504595	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp1 HG00544.hp2 others(34): Show HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01192.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG02004.hp1 HG02300.hp2 HG02683.hp1 HG03710.hp2 NA18939.hp2 NA18941.hp1 NA18945.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18978.hp1 NA18980.hp2 NA18989.hp2 NA18998.hp1 NA19010.hp1 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0026 others(3): Show a0001c0002t0003 a0001c0002t0017 a0001c0002t0026 a0001c0002t0039 a0001c0002t0043 a0001c0002t0045	a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0019 others(30): Show a0001c0002t0003g0003 a0001c0002t0003g0005 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0137 a0001c0002t0003g0193 a0001c0002t0003g0194 a0001c0002t0003g0196 a0001c0002t0003g0198 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0204 a0001c0002t0003g0205 a0001c0002t0003g0207 a0001c0002t0003g0208 a0001c0002t0003g0215 a0001c0002t0003g0219 a0001c0002t0003g0220 a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0227 a0001c0002t0003g0233 a0001c0002t0003g0237 a0001c0002t0003g0240 a0001c0002t0017g0212 a0001c0002t0017g0216 a0001c0002t0026g0238 a0001c0002t0039g0202 a0001c0002t0043g0377 a0001c0002t0045g0239	37	420	0.0881	18	c.64 others(29): Show c.6452_*6453insAAAAAAAAAAAAAAAAAA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3143		chr15	TogoVar
IRF2_chr4_184382729_184479550	184452770	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	376	0.0027	18	c.-7+ others(35): Show c.-7+21591_-7+21608dupTTTTTTTTTTTTTTTTTT	IRF2	ENSG00000168310.12	transcript	ENST00000393593.8	protein_coding	1/8			chr4	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18995.hp2 NA19000.hp1 NA18994.hp2 NA18995.hp2 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	3	400	0.0075	18	c.109 others(35): Show c.1099-169_1099-152dupGTGTGTGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF3_chr19_49654572_49670857	49659984	T T	TACACACA others(11): Show TACACACACACACATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02809.hp1 NA20805.hp2 HG02738.hp1 HG02809.hp1 NA20805.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0028 a0002c0001t0002g0028	3	400	0.0075	18	c.109 others(35): Show c.1099-152_1099-151insGTATATGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF6_chr1_209780617_209811142	209796634	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0127 a0001c0001t0007g0127	1	428	0.0023	18	c.175 others(32): Show c.175-100_175-83dupGTGTGTGTGTGTGTGTGT	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding	3/8			chr1	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(11): Show CTTTTTTTCTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG03704.hp2 HG03834.hp1 others(1): Show HG01257.hp1 HG03704.hp2 HG03834.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0110	4	428	0.0094	18	c.-88 others(27): Show c.-887_-886insAAAAAAAAAAGAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG02015.hp1 others(18): Show HG00280.hp2 HG00323.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02735.hp1 HG03239.hp1 NA18612.hp1 NA18939.hp1 NA18942.hp1 NA18946.hp2 NA18948.hp2 NA18957.hp2 NA18963.hp2 NA19001.hp2 NA19007.hp2 NA19056.hp2 NA19062.hp1 NA19074.hp2 NA19079.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019	a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0066 others(17): Show a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0095 a0001c0001t0008g0029 a0001c0001t0008g0031 a0001c0001t0008g0032 a0001c0001t0008g0081 a0001c0001t0008g0090 a0001c0001t0008g0094 a0001c0001t0008g0100 a0001c0001t0008g0103 a0001c0001t0008g0108 a0001c0001t0015g0063 a0001c0001t0018g0084 a0001c0001t0019g0101	21	428	0.0491	18	c.-88 others(27): Show c.-887_-886insAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRF6_chr1_209780617_209811142	209806895	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0007 a0001c0002t0009g0007	1	428	0.0023	18	c.-10 others(29): Show c.-1025_-1024insAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		754		chr1	TogoVar
IRGC_chr19_43711076_43725021	43724806	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20300.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0002 a0001c0001t0002 a0001c0007t0002	a0001c0001t0002g0004 a0001c0007t0002g0001 a0001c0001t0002g0004 a0001c0007t0002g0001	2	412	0.0049	18	c.48 others(29): Show c.4856_*4857insATATATATATATATATAT	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4786		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(11): Show TATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0007	1	412	0.0024	18	c.48 others(29): Show c.4880_*4881insATATATACACACACACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(11): Show TATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0004 a0004c0010t0002g0004	1	412	0.0024	18	c.48 others(29): Show c.4880_*4881insATATATATATATATACAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRGC_chr19_43711076_43725021	43724830	T T	TATATATA others(11): Show TATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	412	0.0024	18	c.48 others(29): Show c.4880_*4881insATATATATATATATATAC	IRGC	ENSG00000124449.7	transcript	ENST00000244314.6	protein_coding		4810		chr19	TogoVar
IRS1_chr2_226726312_226804820	226728076	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02523.hp1 HG03139.hp1 others(2): Show HG02083.hp2 HG02523.hp1 HG03139.hp1 HG03540.hp2 NA19007.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0002t0046 a0001c0002t0070 others(1): Show a0001c0002t0002 a0001c0002t0046 a0001c0002t0070 a0001c0005t0040	a0001c0002t0002g0236 a0001c0002t0002g0245 a0001c0002t0046g0207 others(2): Show a0001c0002t0002g0236 a0001c0002t0002g0245 a0001c0002t0046g0207 a0001c0002t0070g0262 a0001c0005t0040g0058	5	278	0.0180	18	c.81 others(29): Show c.8195_*8196insACACACACACACACACAC	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding		3235		chr2	TogoVar
IRS1_chr2_226726312_226804820	226742726	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02056.hp1 NA18978.hp2 others(2): Show HG01109.hp2 HG02056.hp1 NA18978.hp2 NA18991.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0050 a0001c0002t0002 a0001c0002t0050	a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0252 others(2): Show a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0252 a0001c0002t0002g0261 a0001c0002t0050g0232	5	278	0.0180	18	c.22 others(35): Show c.22-6477_*22-6476insCTTTTTTTTTTTTTTTTT	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0228 a0001c0002t0002g0228	1	278	0.0036	18	c.21 others(37): Show c.21+28825_*21+28826insAAAAAAAAAATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	278	0.0036	18	c.21 others(37): Show c.21+28825_*21+28826insAAAAAAAAAAAAAATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar

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