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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
IL33_chr9_6210807_6262983	6218675	C C	CATATATA others(12): Show CATATATATATGTTCTCCAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00741.hp2 others(37): Show HG00140.hp2 HG00423.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01433.hp1 HG01496.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp2 HG02080.hp1 HG02258.hp2 HG02273.hp1 HG02647.hp2 HG02738.hp2 HG02886.hp1 HG03130.hp1 HG03490.hp1 HG03540.hp2 HG03834.hp1 HG04204.hp2 NA18747.hp2 NA18954.hp2 NA18961.hp2 NA18972.hp1 NA18979.hp1 NA18984.hp2 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19012.hp1 NA19060.hp1 NA19063.hp2 NA19065.hp1 NA19085.hp1 NA20129.hp2 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002 a0001c0002t0004 a0004c0005t0002	a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0102 others(37): Show a0001c0001t0001g0056 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0267 a0001c0001t0001g0300 a0001c0001t0003g0195 a0001c0001t0009g0097 a0001c0001t0009g0103 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0101 a0001c0002t0002g0268 a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0287 a0001c0002t0002g0288 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0291 a0001c0002t0002g0293 a0001c0002t0002g0294 a0001c0002t0002g0295 a0001c0002t0002g0296 a0001c0002t0002g0297 a0001c0002t0002g0298 a0001c0002t0002g0299 a0001c0002t0002g0306 a0001c0002t0002g0307 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0002g0319 a0001c0002t0004g0191 a0001c0002t0004g0192 a0001c0002t0004g0193 a0001c0002t0004g0194 a0001c0002t0004g0196 a0004c0005t0002g0292	40	362	0.1105	19	c.-12 others(36): Show c.-12+2965_-12+2983dupATGTTCTCCATATATATAT	IL33	ENSG00000137033.12	transcript	ENST00000682010.1	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
IL3RA_chrX_1331785_1387689	1348644	C C	CTTTTCTT others(12): Show CTTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0048 a0001c0001t0014g0048	1	115	0.0087	19	c.298 others(34): Show c.298+100_298+101insTTTCTTTCTTTCTTTCTTT	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	4/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1355225	G G	GGTGGAGG others(12): Show GGTGGAGGGGGAGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	115	0.0087	19	c.617 others(34): Show c.617-980_617-979insGGAGTGGAGGGGGAGGAGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1355462	A A	AGGAGGGG others(12): Show AGGAGGGGGAGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	115	0.0087	19	c.617 others(34): Show c.617-745_617-744insGGGAGGGAGGGGGAGGAGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366344	C C	CGGGGTGC others(12): Show CGGGGTGCGCGGGGTGAGCG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0097 a0001c0001t0007g0097	1	115	0.0087	19	c.874 others(36): Show c.874+1095_874+1096insGTGCGCGGGGTGAGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366344	C C	CGGGTGCG others(12): Show CGGGTGCGCGGGGGTGAGCG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	115	0.0087	19	c.874 others(36): Show c.874+1104_874+1105insGTGAGCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366388	C C	CGGGGTGA others(12): Show CGGGGTGAGCGGGGTGCGCG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	115	0.0087	19	c.874 others(36): Show c.874+1140_874+1158dupGTGAGCGGGGTGCGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1366872	C C	CGGGGTGA others(12): Show CGGGGTGAGCCGGGTGCGCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	115	0.0087	19	c.874 others(36): Show c.874+1629_874+1630insCGGGTGCGCGGGGGTGAGC	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367107	G G	GGGGTGAG others(12): Show GGGGTGAGCGGGGGTGAGCC	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0002 a0012c0007t0002	a0012c0007t0002g0045 a0012c0007t0002g0045	1	115	0.0087	19	c.874 others(36): Show c.874+1867_874+1868insGTGAGCCGGGTGAGCGGGG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367294	G G	GCGGGGTG others(12): Show GCGGGGTGCGCGGGGTGAGC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0091 a0001c0001t0013g0091	1	115	0.0087	19	c.874 others(36): Show c.874+2058_874+2059insAGCCGGGGTGCGCGGGGTG	IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL4I1_chr19_49884654_49901887	49885933	C C	CCATTGCA others(12): Show CCATTGCACTCCAGCCTGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 NA19030.hp1 HG03453.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0029 a0001c0008t0002g0029	2	428	0.0047	19	c.37 others(30): Show c.3718_*3736dupCCCAGGCTGGAGTGCAATG	IL4I1	ENSG00000104951.16	transcript	ENST00000391826.7	protein_coding		3720		chr19	TogoVar
IL5RA_chr3_3061324_3115374	3070575	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0416 a0001c0001t0050g0416	1	454	0.0022	19	c.117 others(36): Show c.1177-283_1177-265dupAAAAAAAAAAAAAAAAAAA	IL5RA	ENSG00000091181.20	transcript	ENST00000446632.7	protein_coding	11/11			chr3	TogoVar
IL6R_chr1_154400343_154474450	154447442	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	346	0.0029	19	c.950 others(34): Show c.950-683_950-682insTATATATATATATATATAT	IL6R	ENSG00000160712.13	transcript	ENST00000368485.8	protein_coding	6/9			chr1	TogoVar
IL6_chr7_22722200_22736998	22736645	G G	GGTCGGGT others(12): Show GGTCGGGTGGGAGGTGCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	418	0.0024	19	c.50 others(30): Show c.5072_*5073insGTCGGGTGGGAGGTGCAAA	IL6	ENSG00000136244.12	transcript	ENST00000258743.10	protein_coding		4648		chr7	TogoVar
IL9R_chrX_155992696_156015817	156006612	C C	CACCCTGG others(12): Show CACCCTGGCCGATGCCTTAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02886.hp1 HG06807.hp2 others(1): Show HG00280.hp1 HG02886.hp1 HG06807.hp2 NA18980.hp1	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0019	a0001c0001 a0004c0004 a0014c0029 others(1): Show a0001c0001 a0004c0004 a0014c0029 a0019c0027	a0001c0001t0001 a0004c0004t0001 a0014c0029t0003 others(1): Show a0001c0001t0001 a0004c0004t0001 a0014c0029t0003 a0019c0027t0001	a0001c0001t0001g0053 a0004c0004t0001g0069 a0014c0029t0003g0080 others(1): Show a0001c0001t0001g0053 a0004c0004t0001g0069 a0014c0029t0003g0080 a0019c0027t0001g0079	4	220	0.0182	19	c.887 others(34): Show c.887+425_887+426insCCCTGGCCGATGCCTTAGA	IL9R	ENSG00000124334.18	transcript	ENST00000244174.11	protein_coding	7/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ILF3_chr19_10649346_10697400	10672351	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0031 a0001c0002t0031	a0001c0002t0031g0063 a0001c0002t0031g0063	1	346	0.0029	19	c.411 others(34): Show c.411+821_411+839dupTTTTTTTTTTTTTTTTTTT	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr19	TogoVar
ILF3_chr19_10649346_10697400	10693526	G G	GCAATCTC others(12): Show GCAATCTCGGCGCACTGCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG03130.hp1 HG02486.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0283 a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0283	3	346	0.0087	19	c.42 others(30): Show c.4214_*4215insCAATCTCGGCGCACTGCAA	ILF3	ENSG00000129351.18	transcript	ENST00000588657.6	protein_coding		1127		chr19	TogoVar
ILRUN_chr6_34582288_34701767	34614435	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0309 a0001c0002t0009g0309	1	316	0.0032	19	c.512 others(36): Show c.512-7532_512-7531insATATATATATATATATATA	ILRUN	ENSG00000196821.10	transcript	ENST00000374023.8	protein_coding	3/4			chr6	TogoVar
IMMP2L_chr7_110657644_111567492	110775281	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0025 a0001c0001t0011g0025	1	84	0.0119	19	c.408 others(40): Show c.408+111311_408+111312insACACACACACACACACACA	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding	5/5			chr7	TogoVar
IMMP2L_chr7_110657644_111567492	111567352	C C	CCTATAAT others(12): Show CCTATAATGTAATGTAATGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG01071.hp2 HG01074.hp1 others(5): Show HG00438.hp2 HG01071.hp2 HG01074.hp1 HG01123.hp1 HG03491.hp2 HG03942.hp2 HG04184.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 others(5): Show a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0052 a0002c0003t0002g0051	8	84	0.0952	19	c.-55 others(30): Show c.-5505_-5504insTCATTACATTACATTATAG	IMMP2L	ENSG00000184903.10	transcript	ENST00000405709.7	protein_coding		4861		chr7	TogoVar
IMPA1_chr8_81651914_81691325	81684612	A A	ATATATAT others(12): Show ATATATATACTACACATAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00438.hp1 others(118): Show HG00099.hp1 HG00280.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG01106.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp1 HG01515.hp1 HG01934.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02717.hp1 HG02809.hp2 HG03017.hp1 HG03098.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03688.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18612.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18974.hp1 NA18978.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18990.hp1 NA18993.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp1 NA19078.hp1 NA19079.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 others(66): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0139 a0001c0001t0004g0009 a0001c0001t0004g0024 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0073 a0001c0001t0004g0080 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0054 a0001c0001t0005g0055 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0061 a0001c0001t0008g0007 a0001c0001t0008g0018 a0001c0001t0008g0043 a0001c0001t0008g0044 a0001c0001t0008g0045 a0001c0001t0008g0046 a0001c0001t0014g0121 a0001c0001t0014g0131 a0001c0001t0018g0094 a0001c0001t0019g0137 a0001c0001t0025g0072 a0001c0001t0026g0107 a0001c0001t0027g0106 a0001c0003t0002g0119	121	380	0.3184	19	c.-25 others(36): Show c.-25+1621_-25+1639dupCTTATGTGTAGTATATATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IMPA2_chr18_11976507_12035877	11978211	C C	CTTTCTTT others(12): Show CTTTCTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG03834.hp2 HG04199.hp2 HG02027.hp1 HG03834.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0300 a0001c0001t0001g0334 a0001c0001t0001g0339	3	364	0.0082	19	c.-34 others(30): Show c.-3459_-3458insTTTCTTTTTTTTTTTTTTT	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding		3295		chr18	TogoVar
IMPA2_chr18_11976507_12035877	12007679	C C	CTTTCTTT others(12): Show CTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0305 a0001c0001t0001g0305	1	364	0.0028	19	c.231 others(36): Show c.231-2204_231-2203insTTTCTTTCTTTCTTTCTTT	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	2/7			chr18	TogoVar
IMPA2_chr18_11976507_12035877	12022528	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01069.hp2 HG01099.hp2 others(5): Show HG00544.hp2 HG01069.hp2 HG01099.hp2 HG01123.hp1 HG01978.hp2 HG02698.hp1 HG02735.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0088 a0001c0001t0001g0150 a0001c0001t0001g0168 others(5): Show a0001c0001t0001g0088 a0001c0001t0001g0150 a0001c0001t0001g0168 a0001c0001t0001g0180 a0001c0001t0001g0361 a0001c0002t0001g0230 a0001c0002t0001g0239 a0001c0002t0001g0247	8	364	0.0220	19	c.491 others(36): Show c.491-5514_491-5513insATATATATATATATATATA	IMPA2	ENSG00000141401.12	transcript	ENST00000269159.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
IMPDH1_chr7_128387277_128414982	128412944	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	414	0.0024	19	c.-30 others(30): Show c.-3044_-3043insAAAAAAAAAAAAAAAAAAA	IMPDH1	ENSG00000106348.19	transcript	ENST00000338791.11	protein_coding		2963		chr7	TogoVar
IMPG1_chr6_75916114_76077662	75974397	T T	TTCCTTCC others(12): Show TTCCTTCCTTCCTTCCTTGC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18984.hp1 NA18945.hp2 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0275 a0001c0001t0001g0021 a0001c0001t0001g0275	2	302	0.0066	19	c.129 others(40): Show c.1292-23304_1292-23303insGCAAGGAAGGAAGGAAGGA	IMPG1	ENSG00000112706.12	transcript	ENST00000369950.8	protein_coding	12/16			chr6	TogoVar
IMPG2_chr3_101217546_101325575	101256218	A A	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0316 a0002c0002t0009g0316	1	360	0.0028	19	c.115 others(38): Show c.1153+1310_1153+1311insCTTTCTTTCTTTCTTTCTT	IMPG2	ENSG00000081148.12	transcript	ENST00000193391.8	protein_coding	10/18			chr3	TogoVar
INA_chr10_103272138_103295346	103278934	C C	CACACACA others(12): Show CACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0079 a0001c0001t0002g0079	1	418	0.0024	19	c.106 others(36): Show c.1065+658_1065+659insACACACACACACACACACA	INA	ENSG00000148798.11	transcript	ENST00000369849.9	protein_coding	1/2			chr10	TogoVar
INF2_chr14_104684618_104727535	104695580	A A	ACACCCCT others(12): Show ACACCCCTCCTCCCAGTGAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01257.hp2 others(2): Show HG00323.hp1 HG01106.hp2 HG01257.hp2 HG01433.hp2 HG03834.hp1	a0002 a0025 a0002 a0025	a0002c0003 a0025c0049 a0002c0003 a0025c0049	a0002c0003t0006 a0002c0003t0049 a0025c0049t0009 a0002c0003t0006 a0002c0003t0049 a0025c0049t0009	a0002c0003t0006g0052 a0002c0003t0006g0238 a0002c0003t0049g0229 others(1): Show a0002c0003t0006g0052 a0002c0003t0006g0238 a0002c0003t0049g0229 a0025c0049t0009g0125	5	380	0.0132	19	c.-9- others(34): Show c.-9-5776_-9-5775insACCCCTCCTCCCAGTGACC	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr14	TogoVar
ING2_chr4_183500058_183517429	183506037	A A	AGGGCCCC others(12): Show AGGGCCCCCGCGCCGGGGGC	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	456	0.0022	19	c.172 others(34): Show c.172+674_172+692dupCCCCCGCGCCGGGGGCGGG	ING2	ENSG00000168556.7	transcript	ENST00000302327.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr4	TogoVar
INHBA_chr7_41680114_41708090	41700841	A A	AGAGAGAG others(12): Show AGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	374	0.0027	19	c.-14 others(36): Show c.-143-325_-143-324insCTCTCTCTCTCTCTCTCTC	INHBA	ENSG00000122641.11	transcript	ENST00000242208.5	protein_coding	1/2			chr7	TogoVar
INHBC_chr12_57429784_57457062	57447892	A A	AAAAATAT others(12): Show AAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG04228.hp2 HG01256.hp2 HG01258.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0329 a0001c0001t0002g0303 a0001c0001t0002g0307 a0001c0001t0002g0329	3	396	0.0076	19	c.314 others(36): Show c.314-1384_314-1383insAAATATATATATATATATA	INHBC	ENSG00000175189.4	transcript	ENST00000309668.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
INHBC_chr12_57429784_57457062	57447892	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	396	0.0025	19	c.314 others(36): Show c.314-1384_314-1383insATATATATATATATATATA	INHBC	ENSG00000175189.4	transcript	ENST00000309668.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
INPP4B_chr4_142018160_142851301	142097225	T T	TTTTATTT others(12): Show TTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01516.hp1 NA19070.hp1 others(1): Show HG01106.hp1 HG01516.hp1 NA19070.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0003t0003	a0001c0001t0002g0038 a0001c0001t0011g0011 a0001c0001t0012g0061 others(1): Show a0001c0001t0002g0038 a0001c0001t0011g0011 a0001c0001t0012g0061 a0001c0003t0003g0071	4	90	0.0444	19	c.237 others(40): Show c.2374+10867_2374+10868insTAAAATAAAATAAAATAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	23/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142179562	G G	GAAAAATG others(12): Show GAAAAATGATGTTAATAGGA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0035 a0001c0001t0023g0035	1	90	0.0111	19	c.118 others(38): Show c.1182-5754_1182-5753insTCCTATTAACATCATTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	15/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142294829	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0052 a0001c0002t0004g0052	1	90	0.0111	19	c.503 others(38): Show c.503+10610_503+10628dupTTTTTTTTTTTTTTTTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	9/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142398401	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	90	0.0111	19	c.372 others(36): Show c.372+4536_372+4537insATATATATATTTTTTTTTT	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	7/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142483182	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0057 a0002c0004t0006g0057	1	90	0.0111	19	c.-19 others(40): Show c.-190-20475_-190-20457dupAAAAAAAAAAAAAAAAAAA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP4B_chr4_142018160_142851301	142544130	G G	GTGTGTGT others(12): Show GTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp2 HG02523.hp1 others(6): Show HG01106.hp2 HG01346.hp2 HG02523.hp1 HG02970.hp2 HG03041.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0002c0004	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(6): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0001c0002t0001 a0001c0002t0002 a0001c0003t0005 a0001c0007t0005 a0002c0004t0001	a0001c0001t0004g0041 a0001c0001t0008g0020 a0001c0001t0009g0055 others(6): Show a0001c0001t0004g0041 a0001c0001t0008g0020 a0001c0001t0009g0055 a0001c0001t0019g0064 a0001c0002t0001g0039 a0001c0002t0002g0049 a0001c0003t0005g0065 a0001c0007t0005g0075 a0002c0004t0001g0062	9	90	0.1000	19	c.-19 others(40): Show c.-190-81405_-190-81404insACACACACACACACACACA	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	2/25			chr4	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG06807.hp1 HG03041.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0255 a0002c0002t0002g0272 a0002c0002t0002g0255 a0002c0002t0002g0272	2	328	0.0061	19	c.315 others(36): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTT	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(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00741.hp1 others(13): Show HG00323.hp2 HG00642.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01358.hp1 HG02132.hp1 HG02683.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2 HG03225.hp2 HG03491.hp1 HG03492.hp2 HG03710.hp1 HG04199.hp2	a0001 a0006 a0013 a0001 a0006 a0013	a0001c0003 a0001c0004 a0006c0009 others(1): Show a0001c0003 a0001c0004 a0006c0009 a0013c0024	a0001c0003t0001 a0001c0004t0001 a0006c0009t0001 others(1): Show a0001c0003t0001 a0001c0004t0001 a0006c0009t0001 a0013c0024t0001	a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0036 others(4): Show a0001c0003t0001g0004 a0001c0003t0001g0006 a0001c0003t0001g0036 a0001c0003t0001g0080 a0001c0004t0001g0089 a0006c0009t0001g0033 a0013c0024t0001g0079	16	422	0.0379	19	c.-19 others(30): Show c.-1966_-1965insTTTTTTTTTTTTTTTTTTT	INPP5J	ENSG00000185133.14	transcript	ENST00000331075.10	protein_coding		1916		chr22	TogoVar
INSC_chr11_15109923_15252208	15116847	T T	TTCTTTCT others(12): Show TTCTTTCTTTCTTTCTTCTC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0113 a0001c0003t0019g0113	1	270	0.0037	19	c.-46 others(36): Show c.-46+1847_-46+1848insTTCTTTCTTTCTTCTCTCT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
INSC_chr11_15109923_15252208	15247756	T T	TATATATA others(12): Show TATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0262 a0001c0002t0006g0262	1	270	0.0037	19	c.17 others(30): Show c.1716_*1717insATATATATATATATATATA	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		549		chr11	TogoVar
INSM2_chr14_35529164_35542054	35541040	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01257.hp2 HG01884.hp1 others(7): Show HG01099.hp1 HG01257.hp2 HG01884.hp1 HG02080.hp1 HG02683.hp2 HG02976.hp2 NA18941.hp1 NA18947.hp2 NA18949.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0005t0001 a0001c0001t0001 a0001c0001t0003 a0001c0005t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0005t0001g0000 a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0005t0001g0000	10	402	0.0249	19	c.50 others(30): Show c.5087_*5088insTTTTTTTTTTTTTTTTTTT	INSM2	ENSG00000168348.4	transcript	ENST00000307169.4	protein_coding		3987		chr14	TogoVar
INSRR_chr1_156835063_156864117	156855176	T T	TATCTATC others(12): Show TATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	356	0.0028	19	c.86- others(32): Show c.86-874_86-873insGATAGATAGATAGATAGAT	INSRR	ENSG00000027644.5	transcript	ENST00000368195.4	protein_coding	1/21			chr1	TogoVar
INSR_chr19_7107265_7299414	7163948	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG06807.hp2 HG02965.hp2 HG06807.hp2	a0001 a0001	a0001c0029 a0001c0040 a0001c0029 a0001c0040	a0001c0029t0004 a0001c0040t0129 a0001c0029t0004 a0001c0040t0129	a0001c0029t0004g0185 a0001c0040t0129g0204 a0001c0029t0004g0185 a0001c0040t0129g0204	2	300	0.0067	19	c.186 others(36): Show c.1862-750_1862-749insATTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	8/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7184060	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0125 a0001c0013t0125	a0001c0013t0125g0192 a0001c0013t0125g0192	1	300	0.0033	19	c.974 others(34): Show c.974+255_974+256insTTTTTTTTTTTTTTTTTTT	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	3/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7207940	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02280.hp2 HG02559.hp1 others(8): Show HG00558.hp1 HG02280.hp2 HG02559.hp1 HG02723.hp1 HG02922.hp1 HG02970.hp2 HG03017.hp1 HG03540.hp2 HG03688.hp1 HG03831.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(5): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0001c0033 a0001c0038 a0001c0063	a0001c0001t0050 a0001c0004t0154 a0001c0005t0019 others(7): Show a0001c0001t0050 a0001c0004t0154 a0001c0005t0019 a0001c0007t0001 a0001c0007t0040 a0001c0013t0035 a0001c0013t0130 a0001c0033t0088 a0001c0038t0094 a0001c0063t0074	a0001c0001t0050g0023 a0001c0004t0154g0239 a0001c0005t0019g0033 others(8): Show a0001c0001t0050g0023 a0001c0004t0154g0239 a0001c0005t0019g0033 a0001c0005t0019g0045 a0001c0007t0001g0273 a0001c0007t0040g0020 a0001c0013t0035g0190 a0001c0013t0130g0248 a0001c0033t0088g0098 a0001c0038t0094g0255 a0001c0063t0074g0082	11	300	0.0367	19	c.653 others(38): Show c.653-23304_653-23303insTTCCTTCCTTCCTTCCTTC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSR_chr19_7107265_7299414	7219507	G G	GGGAAGGA others(12): Show GGGAAGGAAGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0280 a0001c0003t0003g0280	1	300	0.0033	19	c.653 others(38): Show c.653-34871_653-34870insTCCCTCCCTCCTTCCTTCC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INSYN1_chr15_73730458_73758351	73743828	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0079 a0001c0001t0079	a0001c0001t0079g0144 a0001c0001t0079g0144	1	406	0.0025	19	c.157 others(36): Show c.157-3205_157-3187dupTTTTTTTTTTTTTTTTTTT	INSYN1	ENSG00000205363.7	transcript	ENST00000569673.3	protein_coding	2/2			chr15	TogoVar

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