Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IPO7_chr11_9379652_9453127	9436868	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19091.hp1 HG03041.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0153 a0001c0001t0001g0158	2	314	0.0064	23	c.226 others(40): Show c.2268+503_2268+504insATATATATATATATATATATATT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IQANK1_chr8_143729139_143795645	143748840	A A	AATATATA others(16): Show AATATATAAATATATATTTCATAT	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0322	1	349	0.0029	23	c.175 others(40): Show c.175+8908_175+8909insTTCATATATATATAAATATATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCD_chr12_113190446_113226094	113202288	T T	TATGTTAT others(16): Show TATGTTATCCACAAAGTCAGGTGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	332	0.0030	23	c.730 others(40): Show c.730-1498_730-1476dupTCACCTGACTTTGTGGATAACAT	IQCD	ENSG00000166578.10	transcript	ENST00000416617.3	protein_coding	2/4			chr12	TogoVar
IQCG_chr3_197884077_197964991	197895974	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0044 a0002c0002t0001g0044	1	280	0.0036	23	c.964 others(40): Show c.964-3216_964-3215insTTTTTTTTTTTTTTTTTTTTTTT	IQCG	ENSG00000114473.14	transcript	ENST00000265239.11	protein_coding	9/11			chr3	TogoVar
IQCH_chr15_67249786_67506804	67253260	C C	CGGGGGGG others(16): Show CGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	276	0.0036	23	c.-16 others(34): Show c.-1637_-1636insGGGGGGGGGGGGGGGGGGGGGGG	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding		1525		chr15	TogoVar
IQCH_chr15_67249786_67506804	67358207	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG02015.hp1 HG02683.hp1 others(12): Show HG01256.hp1 HG02015.hp1 HG02683.hp1 HG02897.hp2 HG03209.hp2 HG03492.hp2 NA18943.hp2 NA18962.hp2 NA18984.hp1 NA18986.hp2 NA18994.hp2 NA19000.hp1 NA19060.hp1 NA19072.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0205 others(12): Show a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0205 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0244 a0001c0001t0001g0252 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0265	15	276	0.0544	23	c.714 others(38): Show c.714+801_714+802insTTTTTTTTTTTTTTTTTTTTTTT	IQCH	ENSG00000103599.20	transcript	ENST00000335894.9	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQCJ_chr3_159064319_159268747	159092699	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	252	0.0040	23	c.9+2 others(38): Show c.9+23258_9+23259insCACACACACACACACACACACAC	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3			chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	244	0.0041	23	c.690 others(40): Show c.690+9500_690+9501insAAAAAAAAATATATATATATATA	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(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	244	0.0041	23	c.45 others(34): Show c.4539_*4540insAAAAAAAAAAAAAAAAAAAAAAA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding		2621		chr16	TogoVar
IQCM_chr4_149346709_149820843	149481696	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0225 a0001c0004t0001g0225	1	252	0.0040	23	c.122 others(44): Show c.1229-48140_1229-48139insAAAAAAAAAAAAAAAAAAAAAAA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149486064	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0217 a0001c0001t0002g0217	1	252	0.0040	23	c.122 others(44): Show c.1229-52508_1229-52507insGAGAGAGAGAGAGAGAGAGAGAG	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	12/13			chr4	TogoVar
IQGAP1_chr15_90383242_90507239	90496306	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0296 a0001c0002t0003g0296	1	360	0.0028	23	c.475 others(40): Show c.4752-919_4752-897dupTTTTTTTTTTTTTTTTTTTTTTT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	36/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP1_chr15_90383242_90507239	90499905	C C	CCCTCCCT others(16): Show CCCTCCCTACATTGTGTCCTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	360	0.0028	23	c.486 others(38): Show c.4861-86_4861-64dupCCCTACATTGTGTCCTTTTTCCT	IQGAP1	ENSG00000140575.13	transcript	ENST00000268182.10	protein_coding	37/37		INFO_REALIGN_3_PRIME	chr15	TogoVar
IQGAP2_chr5_76398285_76713132	76496725	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA18957.hp2 NA19062.hp2 HG00735.hp2 NA18957.hp2 NA19062.hp2	a0002 a0004 a0014 a0002 a0004 a0014	a0002c0001 a0004c0007 a0014c0045 a0002c0001 a0004c0007 a0014c0045	a0002c0001t0004 a0004c0007t0003 a0014c0045t0006 a0002c0001t0004 a0004c0007t0003 a0014c0045t0006	a0002c0001t0004g0096 a0004c0007t0003g0196 a0014c0045t0006g0015 a0002c0001t0004g0096 a0004c0007t0003g0196 a0014c0045t0006g0015	3	222	0.0135	23	c.146 others(42): Show c.146+35058_146+35059insCTTTCTTTCTTTCTTTCTTTCTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01069.hp2 others(18): Show HG00639.hp1 HG00735.hp1 HG01069.hp2 HG01109.hp1 HG01934.hp1 HG01981.hp1 HG02083.hp2 HG02602.hp2 HG02630.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp2 NA18985.hp1 NA19005.hp2 NA19062.hp1 NA19085.hp2 NA20805.hp1	a0001 a0007 a0012 others(2): Show a0001 a0007 a0012 a0016 a0020	a0001c0002 a0001c0003 a0001c0042 others(4): Show a0001c0002 a0001c0003 a0001c0042 a0007c0010 a0012c0016 a0016c0024 a0020c0029	a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 others(11): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0042t0002 a0007c0010t0006 a0012c0016t0003 a0012c0016t0006 a0016c0024t0002 a0020c0029t0003	a0001c0002t0002g0116 a0001c0002t0002g0178 a0001c0002t0003g0147 others(18): Show a0001c0002t0002g0116 a0001c0002t0002g0178 a0001c0002t0003g0147 a0001c0002t0003g0157 a0001c0002t0003g0175 a0001c0002t0005g0030 a0001c0002t0006g0006 a0001c0002t0006g0033 a0001c0002t0008g0007 a0001c0002t0008g0059 a0001c0003t0001g0210 a0001c0003t0002g0179 a0001c0003t0002g0197 a0001c0003t0004g0183 a0001c0042t0002g0160 a0007c0010t0006g0014 a0012c0016t0003g0088 a0012c0016t0003g0167 a0012c0016t0006g0057 a0016c0024t0002g0170 a0020c0029t0003g0100	21	222	0.0946	23	c.209 others(42): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC2_chrX_53227876_53326350	53311121	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02622.hp2 NA18940.hp1 HG02132.hp1 HG02622.hp2 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0008 a0001c0001t0001g0133 a0001c0004t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0133 a0001c0004t0001g0004	3	213	0.0141	23	c.707 others(40): Show c.707+9295_707+9296insTTTTTTTTTTTTTTTTTTTTTTT	IQSEC2	ENSG00000124313.19	transcript	ENST00000642864.1	protein_coding	1/14			chrX	TogoVar
IRAG1_chr11_10568095_10698755	10568240	A A	AGTAAAAG others(16): Show AGTAAAAGTCCAGATGATACAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0258 a0001c0002t0002g0258	1	278	0.0036	23	c.80 others(34): Show c.8069_*8091dupGTTTGTATCATCTGGACTTTTAC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding		4854		chr11	TogoVar
IRAG1_chr11_10568095_10698755	10590608	A A	AAGGGGAA others(16): Show AAGGGGAAAATTCTGAGAGGCAGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01099.hp2 others(19): Show HG00642.hp2 HG00735.hp2 HG01099.hp2 HG02109.hp2 HG02258.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03927.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18952.hp1 NA21309.hp1	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0008 a0011 a0014 a0017	a0001c0005 a0001c0041 a0004c0012 others(7): Show a0001c0005 a0001c0041 a0004c0012 a0005c0010 a0006c0009 a0007c0027 a0008c0037 a0011c0032 a0014c0022 a0017c0026	a0001c0005t0001 a0001c0005t0006 a0001c0005t0010 others(10): Show a0001c0005t0001 a0001c0005t0006 a0001c0005t0010 a0001c0005t0025 a0001c0041t0004 a0004c0012t0022 a0005c0010t0010 a0006c0009t0006 a0007c0027t0013 a0008c0037t0014 a0011c0032t0014 a0014c0022t0006 a0017c0026t0012	a0001c0005t0001g0234 a0001c0005t0001g0236 a0001c0005t0001g0240 others(19): Show a0001c0005t0001g0234 a0001c0005t0001g0236 a0001c0005t0001g0240 a0001c0005t0001g0241 a0001c0005t0001g0242 a0001c0005t0006g0164 a0001c0005t0010g0237 a0001c0005t0010g0243 a0001c0005t0025g0222 a0001c0041t0004g0230 a0004c0012t0022g0269 a0005c0010t0010g0247 a0006c0009t0006g0106 a0006c0009t0006g0126 a0006c0009t0006g0156 a0006c0009t0006g0207 a0006c0009t0006g0245 a0007c0027t0013g0024 a0008c0037t0014g0218 a0011c0032t0014g0260 a0014c0022t0006g0053 a0017c0026t0012g0078	22	278	0.0791	23	c.224 others(40): Show c.2240+917_2240+939dupGCTGCCTCTCAGAATTTTCCCCT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	18/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG01074.hp1 others(22): Show HG00423.hp2 HG00544.hp1 HG01074.hp1 HG01243.hp2 HG01361.hp2 HG01928.hp1 HG01943.hp1 HG01978.hp2 HG02293.hp2 HG02559.hp2 HG02738.hp1 HG02738.hp2 HG03471.hp2 HG03669.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 NA18955.hp1 NA18973.hp2 NA19005.hp1 NA19054.hp2 NA19066.hp2 NA19070.hp2 NA19081.hp1 NA19088.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0008 a0009	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0008c0011 a0009c0012	a0001c0001t0001 a0002c0002t0001 a0003c0003t0010 others(3): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0010 a0004c0004t0001 a0008c0011t0002 a0009c0012t0001	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0072 others(22): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0072 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0136 a0001c0001t0001g0146 a0001c0001t0001g0154 a0001c0001t0001g0253 a0001c0001t0001g0263 a0002c0002t0001g0229 a0002c0002t0001g0233 a0002c0002t0001g0236 a0002c0002t0001g0310 a0003c0003t0010g0313 a0004c0004t0001g0190 a0004c0004t0001g0209 a0008c0011t0002g0077 a0009c0012t0001g0193	25	344	0.0727	23	c.76 others(32): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK3_chr12_66184214_66259622	66215785	T T	TGCACGTG others(16): Show TGCACGTGCACGTGCGCAGCGCGC	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0313 a0001c0001t0004g0313	1	346	0.0029	23	c.589 others(40): Show c.589-1382_589-1381insGTGCACGTGCGCAGCGCGCGCAC	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRF1_chr5_132476609_132495773	132485849	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG02897.hp2 others(5): Show HG02630.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0031 a0001c0002t0035 a0001c0002t0010 a0001c0002t0031 a0001c0002t0035	a0001c0002t0010g0017 a0001c0002t0031g0058 a0001c0002t0035g0088 a0001c0002t0010g0017 a0001c0002t0031g0058 a0001c0002t0035g0088	8	436	0.0184	23	c.668 others(38): Show c.668-134_668-133insGTGTGTGTGTGTGTGTGTGTGTG	IRF1	ENSG00000125347.15	transcript	ENST00000245414.9	protein_coding	7/9			chr5	TogoVar
IRF3_chr19_49654572_49670857	49660028	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0120 a0002c0001t0004g0120	1	400	0.0025	23	c.109 others(40): Show c.1099-196_1099-195insTGTGTGTGTGTGTGTGTGTGTGT	IRF3	ENSG00000126456.16	transcript	ENST00000377139.8	protein_coding	7/7			chr19	TogoVar
IRF6_chr1_209780617_209811142	209806757	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp2 HG03492.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0001 a0001c0001t0001g0027	2	428	0.0047	23	c.-88 others(32): Show c.-887_-886insAAAAAAAAAAAAAAAAAAAAAAA	IRF6	ENSG00000117595.13	transcript	ENST00000367021.8	protein_coding		616		chr1	TogoVar
IRF8_chr16_85894162_85927606	85904812	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA18945.hp2 NA18954.hp2 HG02886.hp2 NA18945.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0020 a0001c0002t0007 a0001c0001t0001 a0001c0001t0020 a0001c0002t0007	a0001c0001t0001g0062 a0001c0001t0020g0237 a0001c0002t0007g0068 a0001c0001t0001g0062 a0001c0001t0020g0237 a0001c0002t0007g0068	3	432	0.0069	23	c.174 others(40): Show c.174+1643_174+1644insTTTTTTTTTTTTTTTTTTTTTTT	IRF8	ENSG00000140968.12	transcript	ENST00000268638.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01928.hp2 NA18951.hp2 HG00408.hp1 HG01928.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0064 a0001c0001t0001 a0001c0001t0064	a0001c0001t0001g0134 a0001c0001t0001g0175 a0001c0001t0064g0141 a0001c0001t0001g0134 a0001c0001t0001g0175 a0001c0001t0064g0141	3	278	0.0108	23	c.21 others(42): Show c.21+28825_*21+28826insAAAAAAAAAAATATATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02809.hp2 HG03942.hp2 others(5): Show HG01496.hp1 HG02809.hp2 HG03942.hp2 NA18982.hp1 NA19078.hp1 NA19079.hp2 NA20129.hp1 NA20805.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0007 a0001c0001 a0001c0002 a0004c0007	a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0016 a0001c0002t0002 a0004c0007t0001	a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0127 others(5): Show a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0016g0264 a0001c0002t0002g0240 a0004c0007t0001g0099 a0004c0007t0001g0100	8	278	0.0288	23	c.21 others(42): Show c.21+28825_*21+28826insAAAAAAAAAAAAATATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG03139.hp1 HG03471.hp2 HG02071.hp2 HG03139.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0009 a0001c0005t0040 a0001c0001t0001 a0001c0005t0009 a0001c0005t0040	a0001c0001t0001g0126 a0001c0005t0009g0056 a0001c0005t0040g0058 a0001c0001t0001g0126 a0001c0005t0009g0056 a0001c0005t0040g0058	3	278	0.0108	23	c.21 others(42): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAATATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
IRS1_chr2_226726312_226804820	226766163	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0051 a0001c0005t0038g0051	1	278	0.0036	23	c.21 others(42): Show c.21+28825_*21+28826insAAAAAAAAAAAAAAAAATATATA	IRS1	ENSG00000169047.6	transcript	ENST00000305123.6	protein_coding	1/1			chr2	TogoVar
ISG20L2_chr1_156716895_156733766	156728839	T T	TCACTGCA others(16): Show TCACTGCAACCGCTACTTGTGACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0077 a0001c0001t0034g0077	1	404	0.0025	23	c.-54 others(32): Show c.-543_-542insCGTCACAAGTAGCGGTTGCAGTG	ISG20L2	ENSG00000143319.17	transcript	ENST00000368219.2	protein_coding		74		chr1	TogoVar
ISLR_chr15_74168710_74181871	74177102	A A	AGCTGGGG others(16): Show AGCTGGGGGCAGGAGCCTGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00735.hp1 others(12): Show HG00099.hp2 HG00280.hp2 HG00735.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01433.hp2 HG01515.hp1 HG01891.hp1 HG02004.hp2 HG02257.hp1 HG02738.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0013 a0001c0003t0003 a0001c0003t0013	a0001c0003t0003g0002 a0001c0003t0013g0002 a0001c0003t0003g0002 a0001c0003t0013g0002	15	434	0.0346	23	c.95 others(32): Show c.957_*958insGCTGGGGGCAGGAGCCTGGGGTG	ISLR	ENSG00000129009.13	transcript	ENST00000249842.8	protein_coding		232		chr15	TogoVar
ITFG1_chr16_47149391_47466063	47376964	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	110	0.0091	23	c.656 others(40): Show c.656-1047_656-1025dupTTTTTTTTTTTTTTTTTTTTTTT	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	110	0.0091	23	c.655 others(42): Show c.655+19399_655+19400insAAATATATATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	110	0.0091	23	c.655 others(42): Show c.655+19399_655+19400insAAAAATATATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0095 a0001c0002t0004g0095	1	110	0.0091	23	c.655 others(42): Show c.655+19399_655+19400insAAAAAAAAATATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITFG1_chr16_47149391_47466063	47409404	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0078 a0001c0002t0002g0078	1	110	0.0091	23	c.655 others(42): Show c.655+19399_655+19400insAAAAAAAAAAATATATATATATA	ITFG1	ENSG00000129636.13	transcript	ENST00000320640.11	protein_coding	6/17			chr16	TogoVar
ITGA11_chr15_68291532_68437163	68400638	A A	ATTATATA others(16): Show ATTATATATTATATAATAAATATT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0072 a0005c0072	a0005c0072t0087 a0005c0072t0087	a0005c0072t0087g0038 a0005c0072t0087g0038	1	242	0.0041	23	c.164 others(40): Show c.164+2279_164+2280insAATATTTATTATATAATATATAA	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400754	T T	TAATATTA others(16): Show TAATATTATATATTATATAATAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02809.hp1 HG03041.hp2 others(2): Show HG02630.hp2 HG02809.hp1 HG03041.hp2 HG03195.hp2 NA18522.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0023	a0001c0005 a0002c0067 a0002c0080 others(2): Show a0001c0005 a0002c0067 a0002c0080 a0004c0052 a0023c0064	a0001c0005t0054 a0002c0067t0111 a0002c0080t0001 others(2): Show a0001c0005t0054 a0002c0067t0111 a0002c0080t0001 a0004c0052t0010 a0023c0064t0098	a0001c0005t0054g0227 a0002c0067t0111g0119 a0002c0080t0001g0228 others(2): Show a0001c0005t0054g0227 a0002c0067t0111g0119 a0002c0080t0001g0228 a0004c0052t0010g0144 a0023c0064t0098g0224	5	242	0.0207	23	c.164 others(40): Show c.164+2163_164+2164insTTTATTATATAATATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA11_chr15_68291532_68437163	68400809	T T	TAATATTA others(16): Show TAATATTATATATTATATAATAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18747.hp2 NA18977.hp2 HG02486.hp1 NA18747.hp2 NA18977.hp2	a0001 a0008 a0001 a0008	a0001c0003 a0008c0020 a0001c0003 a0008c0020	a0001c0003t0005 a0001c0003t0085 a0008c0020t0046 a0001c0003t0005 a0001c0003t0085 a0008c0020t0046	a0001c0003t0005g0101 a0001c0003t0085g0052 a0008c0020t0046g0126 a0001c0003t0005g0101 a0001c0003t0085g0052 a0008c0020t0046g0126	3	242	0.0124	23	c.164 others(40): Show c.164+2108_164+2109insTTTATTATATAATATATAATATT	ITGA11	ENSG00000137809.17	transcript	ENST00000315757.9	protein_coding	2/29			chr15	TogoVar
ITGA1_chr5_52782916_52964209	52872575	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02135.hp2 NA18944.hp1 others(1): Show HG01106.hp1 HG02135.hp2 NA18944.hp1 NA19010.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0004 a0002c0010 others(1): Show a0001c0002 a0001c0004 a0002c0010 a0003c0011	a0001c0002t0003 a0001c0004t0021 a0002c0010t0002 others(1): Show a0001c0002t0003 a0001c0004t0021 a0002c0010t0002 a0003c0011t0008	a0001c0002t0003g0075 a0001c0004t0021g0256 a0002c0010t0002g0125 others(1): Show a0001c0002t0003g0075 a0001c0004t0021g0256 a0002c0010t0002g0125 a0003c0011t0008g0297	4	322	0.0124	23	c.624 others(40): Show c.624+6776_624+6777insTTTTTTTTTTTTTTTTTTTTTTT	ITGA1	ENSG00000213949.10	transcript	ENST00000282588.7	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr5	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	354	0.0028	23	c.42 others(34): Show c.4217_*4218insATATATATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	354	0.0028	23	c.42 others(34): Show c.4217_*4218insAAAAAAATATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA2B_chr17_44367181_44394649	44368146	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	354	0.0028	23	c.42 others(34): Show c.4217_*4218insAAAAAAAAATATATATATATATA	ITGA2B	ENSG00000005961.19	transcript	ENST00000262407.6	protein_coding		4034		chr17	TogoVar
ITGA4_chr2_181452386_181543940	181537418	T T	TCAACTTA others(16): Show TCAACTTACTTTGTTACTTGTATC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG01109.hp2 HG00323.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0094 a0001c0001t0019g0293 a0001c0001t0019g0094 a0001c0001t0019g0293	2	368	0.0054	23	c.18 others(34): Show c.1892_*1914dupCAACTTACTTTGTTACTTGTATC	ITGA4	ENSG00000115232.14	transcript	ENST00000397033.7	protein_coding	28/28	1915	INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGA8_chr10_15508954_15724922	15549201	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0012 a0003c0003t0007g0012	1	220	0.0046	23	c.276 others(40): Show c.2767-656_2767-634dupAAAAAAAAAAAAAAAAAAAAAAA	ITGA8	ENSG00000077943.8	transcript	ENST00000378076.4	protein_coding	26/29			chr10	TogoVar
ITGA9_chr3_37447141_37828507	37818191	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0074 a0001c0001t0004g0074	1	168	0.0060	23	c.301 others(40): Show c.3010-696_3010-674dupAAAAAAAAAAAAAAAAAAAAAAA	ITGA9	ENSG00000144668.12	transcript	ENST00000264741.10	protein_coding	27/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITGAE_chr17_3709628_3806188	3711370	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA19004.hp2 HG02155.hp2 NA19004.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0002c0002t0001 a0003c0003t0001	a0002c0002t0001g0113 a0003c0003t0001g0110 a0002c0002t0001g0113 a0003c0003t0001g0110	2	302	0.0066	23	c.34 others(34): Show c.3476_*3477insAAAAAAAAAAAAAAAAAAAAAAA	ITGAE	ENSG00000083457.12	transcript	ENST00000263087.9	protein_coding		3257		chr17	TogoVar
ITGAM_chr16_31254975_31337877	31270130	C C	CTTCCTTC others(16): Show CTTCCTTCCTCCTTTGCTTTCCTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0163 a0001c0005t0004g0163	1	244	0.0041	23	c.428 others(38): Show c.428-823_428-822insTCCTTCCTCCTTTGCTTTCCTTT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding	5/29		INFO_REALIGN_3_PRIME	chr16	TogoVar
ITGAM_chr16_31254975_31337877	31333578	A A	AAAATAAA others(16): Show AAAATAAAATAAATAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01517.hp1 NA19091.hp2 HG01517.hp1 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0035 a0001c0002t0002g0072 a0001c0002t0002g0035 a0001c0002t0002g0072	2	244	0.0082	23	c.18 others(34): Show c.1871_*1872insAAATAAAATAAATAAAATAAAAT	ITGAM	ENSG00000169896.18	transcript	ENST00000544665.9	protein_coding		702		chr16	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	308	0.0033	23	c.243 others(40): Show c.2433+441_2433+442insATATATATATATATATATATTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
ITGAV_chr2_186585056_186685901	186668216	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp2 HG01981.hp2 others(1): Show HG00280.hp2 HG01358.hp2 HG01981.hp2 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 others(1): Show a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0188	4	308	0.0130	23	c.243 others(40): Show c.2433+441_2433+442insATATATATATATATATATTTTTT	ITGAV	ENSG00000138448.13	transcript	ENST00000261023.8	protein_coding	24/29		INFO_REALIGN_3_PRIME	chr2	TogoVar

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