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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
IL36B_chr2_113017089_113057867	113017625	G G	GGAAGAAG others(38): Show GGAAGAAGAAGAAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG06807.hp1 HG02976.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0254 a0001c0001t0002g0144 a0001c0001t0002g0254	2	404	0.0050	45	c.50 others(56): Show c.5048_*5049insTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCT TCTTCTTCTTC		IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding					4463		chr2	TogoVar
IL36B_chr2_113017089_113057867	113017679	A A	AGAAGAAG others(38): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0152	1	404	0.0025	45	c.49 others(56): Show c.4994_*4995insCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTC		IL36B	ENSG00000136696.11	transcript	ENST00000259213.9	protein_coding					4409		chr2	TogoVar
IL3RA_chrX_1331785_1387689	1366924	C C	CGCGGGGT others(38): Show CGCGGGGTGAGCCGGGTGCGCGGGGTGAGCGGGGTGCGCCGGGTGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01070.hp2 others(13): Show HG00280.hp1 HG00558.hp2 HG01070.hp2 HG01167.hp2 HG02074.hp1 HG02080.hp2 HG02300.hp2 HG02622.hp1 NA18612.hp2 NA18943.hp1 NA18951.hp2 NA18962.hp2 NA19009.hp1 NA19080.hp2 NA19085.hp1 NA19086.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0003 a0010c0013 a0001c0001 a0001c0003 a0010c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0003t0001 a0010c0013t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0002g0046 a0001c0001t0002g0061 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0008g0095 a0001c0003t0001g0102 a0001c0003t0001g0109 a0010c0013t0001g0011	16	115	0.1391	45	c.874 others(62): Show c.874+1698_874+1699insAGCGGGGTGCGCCGGGTGAGCGGGGTGA GCCGGGTGCGCGGGGTG		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367014	C C	CGCGGGGT others(38): Show CGCGGGGTGCGCCGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0005 a0002c0015t0005	a0002c0015t0005g0019 a0002c0015t0005g0019	1	115	0.0087	45	c.874 others(62): Show c.874+1773_874+1774insCGGGTGCGCGGGGTGAGCCGGGTGCGCG GGGTGAGCGGGGTGCGC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
IL3RA_chrX_1331785_1387689	1367458	G G	GGGGTGCG others(38): Show GGGGTGCGCGGGGTGAGCCGGGTGCGCGGGGTGCGCGGGGTGAGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0009 a0001c0020t0009	a0001c0020t0009g0098 a0001c0020t0009g0098	1	115	0.0087	45	c.874 others(62): Show c.874+2223_874+2224insCGGGTGCGCGGGGTGCGCGGGGTGAGCC GGGTGCGCGGGGTGAGC		IL3RA	ENSG00000185291.12	transcript	ENST00000331035.10	protein_coding	9/11					INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775024	G G	GAGAGGGG others(38): Show GAGAGGGGCAGAGAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03098.hp2 HG02109.hp1 HG03098.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0185 a0001c0005t0001g0186 a0001c0005t0001g0185 a0001c0005t0001g0186	2	204	0.0098	45	c.978 others(62): Show c.978-2647_978-2646insAGAGGGGCAGAGAGGAGGGGCAGGGAGA GAGGGGCAGGGAGGAGA		INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15						chr10	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0319 a0002c0002t0003g0319	1	346	0.0029	45	c.281 others(62): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0310 a0002c0002t0003g0310	1	346	0.0029	45	c.281 others(62): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02630.hp2 HG02683.hp2 others(1): Show HG01255.hp1 HG02630.hp2 HG02683.hp2 NA18980.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0003 a0003c0004t0004 a0001c0001t0001 a0002c0002t0003 a0003c0004t0004	a0001c0001t0001g0021 a0002c0002t0003g0299 a0002c0002t0003g0307 others(1): Show a0001c0001t0001g0021 a0002c0002t0003g0299 a0002c0002t0003g0307 a0003c0004t0004g0306	4	346	0.0116	45	c.281 others(62): Show c.281-1161_281-1160insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT		INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23						chr1	TogoVar
INPP5D_chr2_233055342_233212903	233176559	A A	AGGGATGG others(38): Show AGGGATGGATAAATGGATGGATGGATGTGTGGGTGGGTGGAGGGAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0022 a0002c0002t0004g0022	1	310	0.0032	45	c.199 others(62): Show c.1990-706_1990-705insGGGATGGATAAATGGATGGATGGATGTG TGGGTGGGTGGAGGGAT		INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	17/26						chr2	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(38): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	270	0.0037	45	c.-19 others(56): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTCTCTCTCTC		INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding					1779		chr11	TogoVar
INSIG2_chr2_118083471_118115997	118106800	T T	TGGTGGAC others(38): Show TGGTGGACTTTTGATAGATCTAGAAGTGGTTTTGGCCTTGGAGTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18968.hp2 NA18968.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0197 a0003c0006t0001g0197	1	440	0.0023	45	c.435 others(52): Show c.435_479dupGTGGACTTTTGATAGATCTAGAAGTGGTTTTGGCCTTG GAGTAGG	p.Gly others(58): Show p.Gly160_Ile161insTrpThrPheAspArgSerArgSerGlyPheGl yLeuGlyValGly	INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	4/6	689/3562	480/678	160/225		INFO_REALIGN_3_PRIME	chr2	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(38): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00597.hp1 HG01069.hp2 others(15): Show HG00323.hp2 HG00597.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp1 HG01361.hp1 HG02132.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG03017.hp1 HG03491.hp1 HG03704.hp1 HG04199.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0003g0016 a0001c0001t0001g0001 a0001c0001t0003g0016	18	376	0.0479	45	c.-42 others(54): Show c.-429_-428insCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGG ACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					370		chr11	TogoVar
INS_chr11_2154779_2166209	2161578	A A	AGACCCCT others(38): Show AGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01069.hp1 others(27): Show HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01099.hp2 HG01167.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp2 HG02148.hp1 HG02155.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG04199.hp1 HG04204.hp1 NA18747.hp2 NA18949.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0001 a0001c0001t0001g0014	30	376	0.0798	45	c.-42 others(54): Show c.-429_-428insCCGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGG ACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					370		chr11	TogoVar
INS_chr11_2154779_2166209	2161607	C C	CACCCCTG others(38): Show CACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02970.hp1 others(3): Show HG02258.hp1 HG02559.hp1 HG02970.hp1 HG03041.hp1 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0007 a0001c0002t0002g0007	6	376	0.0160	45	c.-45 others(54): Show c.-458_-457insCCTGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGG GACAGGGGT		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					399		chr11	TogoVar
INS_chr11_2154779_2166209	2161678	G G	GGACCCCT others(38): Show GGACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	376	0.0027	45	c.-52 others(54): Show c.-529_-528insGTGGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTC		INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding					470		chr11	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03491.hp1 HG03492.hp1 HG00438.hp2 HG03491.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0020 a0001c0002t0011 a0001c0002t0020	a0001c0002t0011g0334 a0001c0002t0020g0008 a0001c0002t0011g0334 a0001c0002t0020g0008	3	358	0.0084	45	c.429 others(60): Show c.429+508_429+509insATATATATATATATATATACATATATATAT ATATATATATATTTT		INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17						chr13	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAATATAT others(38): Show AAATATATATATATATATATATATATGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02698.hp2 NA18981.hp1 NA18984.hp1 others(1): Show HG02698.hp2 NA18981.hp1 NA18984.hp1 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0008 a0001c0004t0011 a0001c0002t0008 a0001c0004t0011	a0001c0002t0008g0247 a0001c0002t0008g0335 a0001c0002t0008g0343 others(1): Show a0001c0002t0008g0247 a0001c0002t0008g0335 a0001c0002t0008g0343 a0001c0004t0011g0337	4	358	0.0112	45	c.429 others(60): Show c.429+508_429+509insATATATATATATATATATACATATATATAT ATATATATATATATT		INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17						chr13	TogoVar
INVS_chr9_100094243_100307175	100100928	A A	ATATATAA others(38): Show ATATATAATATATATTATATGTATATATAATATATATTATATATGT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02647.hp2 HG01123.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0008 a0001c0001t0016	a0001c0001t0008g0032 a0001c0001t0016g0027 a0001c0001t0008g0032 a0001c0001t0016g0027	2	182	0.0110	45	c.-25 others(62): Show c.-25+1512_-25+1513insTATATAATATATATTATATGTATATATA ATATATATTATATATGT		INVS	ENSG00000119509.13	transcript	ENST00000262457.7	protein_coding	1/16						chr9	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	314	0.0032	45	c.85- others(60): Show c.85-5948_85-5947insAAAAAAAAAAATATATATATATATATATAT ATATATATATATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(38): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0259 a0001c0001t0002g0259	1	314	0.0032	45	c.85- others(60): Show c.85-5948_85-5947insAAAAAAAAATATATATATATATATATATAT ATATATATATATATA		IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr11	TogoVar
IQANK1_chr8_143729139_143795645	143747966	T T	TCCTTTCC others(38): Show TCCTTTCCTTTCCTTTCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0016 a0003c0003t0001g0016	1	349	0.0029	45	c.175 others(62): Show c.175+8025_175+8026insTTTCCTTTCCTTTCCCTTTCCCTTTCCC TTTCCCTTTCCCTTTCC		IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236509874	T T	TCCTGGAT others(38): Show TCCTGGATACATTATTGAACTTCAAAGAGAAATGGTAGGAGAAATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	208	0.0048	45	c.-26 others(56): Show c.-2608_-2607insGATTTCTCCTACCATTTCTCTTTGAAGTTCAATA ATGTATCCAGG		IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding					2399		chr2	TogoVar
IQCB1_chr3_121764761_121840060	121786170	C C	CAAAAGAA others(38): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG02647.hp2 others(1): Show HG02559.hp2 HG02572.hp2 HG02647.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0011 a0001c0002 a0001c0011	a0001c0002t0001 a0001c0011t0001 a0001c0002t0001 a0001c0011t0001	a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0102 others(1): Show a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0102 a0001c0011t0001g0063	4	308	0.0130	45	c.127 others(64): Show c.1278+2069_1278+2113dupCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
IQCB1_chr3_121764761_121840060	121786198	A A	AAGAAGAG others(38): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	308	0.0033	45	c.127 others(64): Show c.1278+2085_1278+2086insCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCT		IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14						chr3	TogoVar
IQCK_chr16_19713271_19863467	19860521	G G	GAAGGGGT others(38): Show GAAGGGGTGCACGGCTAAGGTCTACTAGCCAAAAGCAGAAGCCAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	244	0.0041	45	c.39 others(56): Show c.3973_*3974insAAGGGGTGCACGGCTAAGGTCTACTAGCCAAAAG CAGAAGCCAAC		IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding					2055		chr16	TogoVar
IRAK2_chr3_10159919_10248745	10240550	C C	CCCCCCCC others(38): Show CCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0247 a0003c0004t0001g0247	1	292	0.0034	45	c.176 others(64): Show c.1765+1516_1765+1517insCCCCCACCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCACCCCC		IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr3	TogoVar
ISM1_chr20_13216274_13305651	13221212	C C	CCCTCCTC others(38): Show CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	396	0.0025	45	c.-56 others(54): Show c.-565_-564insCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCT		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding					61		chr20	TogoVar
ISM1_chr20_13216274_13305651	13300393	T T	TCCCCCCC others(38): Show TCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0031 a0002c0003t0031	a0002c0003t0031g0235 a0002c0003t0031g0235	1	396	0.0025	45	c.93 others(54): Show c.938_*939insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCC		ISM1	ENSG00000101230.6	transcript	ENST00000262487.5	protein_coding	6/6				939	INFO_REALIGN_3_PRIME	chr20	TogoVar
ITGB5_chr3_124756948_124892365	124772702	G G	GGGGCTGA others(38): Show GGGGCTGAGCAGGAGGAGGTCAGCACGGCTATGGGAGGCCATGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0067 a0001c0001t0006g0067	1	352	0.0028	45	c.191 others(62): Show c.1916+943_1916+987dupGGCCATGGCCTCCCATAGCCGTGCTGAC CTCCTCCTGCTCAGCCC		ITGB5	ENSG00000082781.12	transcript	ENST00000296181.9	protein_coding	11/14						chr3	TogoVar
ITIH2_chr10_7698316_7754520	7738176	T T	TATATTAT others(38): Show TATATTATATATTATATTCTATATATTATATATTATATTCTATAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02602.hp2 HG03017.hp1 others(4): Show HG01167.hp1 HG02602.hp2 HG03017.hp1 HG03491.hp2 NA18947.hp2 NA19085.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0035 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0129 a0001c0001t0001g0256	7	380	0.0184	45	c.195 others(62): Show c.1958-423_1958-422insTATTATATATTATATTCTATAAAATATT ATATATTATATTCTATA		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPR2_chr12_26330352_26838194	26516270	A A	AGGAAAGG others(38): Show AGGAAAGGAAAGGAAAGGAAAGGAAGGGAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0008 a0008	a0008c0039 a0008c0039	a0008c0039t0001 a0008c0039t0001	a0008c0039t0001g0022 a0008c0039t0001g0022	1	142	0.0070	45	c.507 others(66): Show c.5074-21011_5074-21010insCTTCCCTTCCCTTCCCTTCCCTTC CTTTCCTTTCCTTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516285	G G	GGGAAAGG others(38): Show GGGAAAGGAAGGGAAAGGAAGGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0022 a0001c0013t0022	a0001c0013t0022g0120 a0001c0013t0022g0120	1	142	0.0070	45	c.507 others(66): Show c.5074-21026_5074-21025insTTTCCTTTCCTTTCCTTTCCTTTC CCTTCCTTTCCCTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516290	A A	AGGAAAGG others(38): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0004 a0003c0047t0004	a0003c0047t0004g0076 a0003c0047t0004g0076	1	142	0.0070	45	c.507 others(66): Show c.5074-21031_5074-21030insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516295	A A	AGGAAAGG others(38): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0085 a0001c0020t0001g0085	1	142	0.0070	45	c.507 others(66): Show c.5074-21036_5074-21035insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516300	A A	AGGAAAGG others(38): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01071.hp2 others(3): Show HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01433.hp1 HG02280.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0024 others(2): Show a0001c0002 a0001c0005 a0001c0024 a0001c0026 a0001c0046	a0001c0002t0001 a0001c0002t0029 a0001c0005t0031 others(3): Show a0001c0002t0001 a0001c0002t0029 a0001c0005t0031 a0001c0024t0010 a0001c0026t0053 a0001c0046t0002	a0001c0002t0001g0071 a0001c0002t0029g0072 a0001c0005t0031g0104 others(3): Show a0001c0002t0001g0071 a0001c0002t0029g0072 a0001c0005t0031g0104 a0001c0024t0010g0124 a0001c0026t0053g0142 a0001c0046t0002g0063	6	142	0.0423	45	c.507 others(66): Show c.5074-21041_5074-21040insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
ITPR2_chr12_26330352_26838194	26516305	A A	AGGAAAGG others(38): Show AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0102 a0001c0001t0017g0102	1	142	0.0070	45	c.507 others(66): Show c.5074-21046_5074-21045insCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTTCCTTTCC		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	37/56						chr12	TogoVar
JAKMIP2_chr5_147580438_147787728	147742155	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0070 a0001c0004t0070	a0001c0004t0070g0173 a0001c0004t0070g0173	1	250	0.0040	45	c.-14 others(66): Show c.-149+40300_-149+40301insAAAAATATATATATATATATATAT ATATATATATATATATATATA		JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21						chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132079139	T T	TGGCCTGG others(38): Show TGGCCTGGGAGCGGACGGCCTGGGAGCGGACGGCCTGGGAGCGGAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03654.hp2 HG03834.hp2 others(1): Show HG01175.hp1 HG03654.hp2 HG03834.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0013 a0004c0007 others(1): Show a0001c0001 a0001c0013 a0004c0007 a0004c0046	a0001c0001t0038 a0001c0013t0016 a0004c0007t0004 others(1): Show a0001c0001t0038 a0001c0013t0016 a0004c0007t0004 a0004c0046t0007	a0001c0001t0038g0014 a0001c0013t0016g0155 a0004c0007t0004g0092 others(1): Show a0001c0001t0038g0014 a0001c0013t0016g0155 a0004c0007t0004g0092 a0004c0046t0007g0091	4	158	0.0253	45	c.-13 others(66): Show c.-138+13097_-138+13098insTGGGAGCGGACGGCCTGGGAGCGG ACGGCCTGGGAGCGGACGGCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132097968	T T	TTTCCCTT others(38): Show TTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCCCCTTTCCCTTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0040 a0004c0011t0040	a0004c0011t0040g0060 a0004c0011t0040g0060	1	158	0.0063	45	c.-13 others(64): Show c.-137-6704_-137-6703insTTCCCTTCCCCTTTCCCTTCCCCTTT CCCTTCCCCTTTCCCTTCC		JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	1/23						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(38): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0203 a0003c0003t0001g0203	1	310	0.0032	45	c.333 others(64): Show c.333+42693_333+42694insCTTTTCTTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(38): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0011 a0004c0004t0002g0011	1	310	0.0032	45	c.333 others(64): Show c.333+42693_333+42694insCTTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD1C_chr10_63162225_63470977	63337624	A A	AAAAGAAA others(38): Show AAAAGAAAAGAAAAGAAAAGAAAAGGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0306 a0001c0010t0001g0306	1	310	0.0032	45	c.333 others(64): Show c.333+42693_333+42694insCTTTTCTTTTCTTTTCTTTTCCTTTT CTTTTCTTTTCTTTTCTTT		JMJD1C	ENSG00000171988.20	transcript	ENST00000399262.7	protein_coding	2/25						chr10	TogoVar
JMJD7_chr15_41823092_41842581	41833414	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0123 a0005c0006t0002g0123	1	386	0.0026	45	c.65- others(60): Show c.65-1325_65-1324insATATATATATATATATATATATATATATAT ATATTTTTTTTTTTT		JMJD7	ENSG00000243789.11	transcript	ENST00000397299.9	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
JPH2_chr20_44101590_44192188	44134373	A A	ATATATAT others(38): Show ATATATATAAATATATATTTATTTATATAAATAAATATATATTTAT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0016 a0002c0005t0010g0016	1	338	0.0030	45	c.117 others(66): Show c.1170-15751_1170-15750insATAAATATATATTTATTTATATAA ATAAATATATATTTATATATA		JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5						chr20	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	380	0.0026	45	c.37 others(56): Show c.3761_*3762insATATATATATATATATATATATATATATATATAT ATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KARS1_chr16_75622724_75652665	75624133	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	380	0.0026	45	c.37 others(56): Show c.3761_*3762insAAAAAAAAAAAAATATATATATATATATATATAT ATATATATATA		KARS1	ENSG00000065427.15	transcript	ENST00000302445.8	protein_coding					3590		chr16	TogoVar
KAZN_chr1_14593685_15123043	14662903	A A	AATATATA others(38): Show AATATATATATACACATATATATGTATATATTATATATGTAAATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0036 a0002c0006t0006g0036	1	146	0.0069	45	c.226 others(64): Show c.226+63691_226+63735dupACACATATATATGTATATATTATATA TGTAAATATATATATATAT		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0034 a0004c0009t0001g0034	1	146	0.0069	45	c.227 others(64): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAAAGAAAGAAAGGA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KAZN_chr1_14593685_15123043	14883341	A A	AGAGAGAG others(38): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0073 a0002c0002t0001g0073	1	146	0.0069	45	c.227 others(64): Show c.227-77341_227-77340insGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAAAGAAAGGA		KAZN	ENSG00000189337.17	transcript	ENST00000376030.7	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar

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