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
INAVA_chr1_200889900_200920742	200917847	C C	CTCTCTCT others(27): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0049 a0002c0003t0010g0049	1	424	0.0024	34	c.42 others(45): Show c.4218_*4219insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTATA	INAVA	ENSG00000163362.11	transcript	ENST00000413687.3	protein_coding		2106		chr1	TogoVar
INF2_chr14_104684618_104727535	104720891	C C	CCTCGTGT others(27): Show CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0189 a0001c0001t0063g0189	1	380	0.0026	34	c.21 others(45): Show c.2100_*2133dupTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC	INF2	ENSG00000203485.14	transcript	ENST00000392634.9	protein_coding	23/23	5588	INFO_REALIGN_3_PRIME	chr14	TogoVar
INPP4B_chr4_142018160_142851301	142097225	T T	TGTTATTT others(27): Show TGTTATTTTATTTTATTTTATTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA18906.hp2 NA19043.hp2 HG02258.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0006g0047 a0001c0001t0002g0031 a0001c0001t0002g0048 a0001c0001t0006g0047	3	90	0.0333	34	c.237 others(55): Show c.2374+10867_2374+10868insTAAAATAAAATAAAATAAAATAAA ATAAAATAAC	INPP4B	ENSG00000109452.13	transcript	ENST00000262992.9	protein_coding	23/25			chr4	TogoVar
INPP5B_chr1_37855697_37952053	37917308	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0146 a0001c0001t0006g0146	1	346	0.0029	34	c.532 others(53): Show c.532+14604_532+14605insTATATATATATATATATATATATATA TATATATA	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	7/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01346.hp1 NA18951.hp1 others(1): Show HG01257.hp2 HG01346.hp1 NA18951.hp1 NA19064.hp1	a0001 a0003 a0001 a0003	a0001c0005 a0003c0004 a0001c0005 a0003c0004	a0001c0005t0001 a0003c0004t0004 a0003c0004t0016 a0001c0005t0001 a0003c0004t0004 a0003c0004t0016	a0001c0005t0001g0290 a0001c0005t0001g0291 a0003c0004t0004g0008 others(1): Show a0001c0005t0001g0290 a0001c0005t0001g0291 a0003c0004t0004g0008 a0003c0004t0016g0084	4	346	0.0116	34	c.281 others(51): Show c.281-1161_281-1160insATATATATATATATATATATATTTTTTT TTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5B_chr1_37855697_37952053	37941958	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG03654.hp1 NA19004.hp2 HG00609.hp1 HG03654.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067	3	346	0.0087	34	c.281 others(51): Show c.281-1161_281-1160insATATATATATATATATATATATATTTTT TTTTTT	INPP5B	ENSG00000204084.14	transcript	ENST00000373024.8	protein_coding	5/23			chr1	TogoVar
INPP5D_chr2_233055342_233212903	233116248	G G	GATAGATA others(27): Show GATAGATAGATAGATAGATAGATATAGATATAGAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02717.hp2 HG03516.hp2 others(2): Show HG02622.hp2 HG02717.hp2 HG03516.hp2 HG03540.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0005t0002 a0002c0002t0003	a0001c0001t0004g0060 a0001c0001t0006g0309 a0001c0001t0008g0249 others(2): Show a0001c0001t0004g0060 a0001c0001t0006g0309 a0001c0001t0008g0249 a0001c0005t0002g0025 a0002c0002t0003g0285	5	310	0.0161	34	c.199 others(51): Show c.199-5852_199-5851insGATAGATAGATAGATATAGATATAGATA TAGATA	INPP5D	ENSG00000168918.14	transcript	ENST00000445964.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
INPP5E_chr9_136423619_136444845	136429813	G G	GAGGAGGA others(27): Show GAGGAGGAGGGGGCGTTAGGAGGGCACCCAGGGCC	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0082 a0001c0001t0001g0085	2	382	0.0052	34	c.180 others(48): Show c.1803-40_1803-7dupGGCCCTGGGTGCCCTCCTAACGCCCCCTCCT CCT	INPP5E	ENSG00000148384.14	transcript	ENST00000371712.4	protein_coding	9/9			chr9	TogoVar
INPP5F_chr10_119721050_119834147	119785286	G G	GTTTTTTT others(27): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0302 a0001c0003t0003g0302	1	328	0.0031	34	c.315 others(51): Show c.315+3531_315+3532insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	INPP5F	ENSG00000198825.15	transcript	ENST00000650623.2	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSC_chr11_15109923_15252208	15113119	C C	CTCTCTTT others(27): Show CTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0254 a0001c0002t0006g0254	1	270	0.0037	34	c.-19 others(45): Show c.-1930_-1929insTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1803		chr11	TogoVar
INSC_chr11_15109923_15252208	15113143	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0158 a0001c0002t0005g0158	1	270	0.0037	34	c.-19 others(45): Show c.-1906_-1905insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTC	INSC	ENSG00000188487.12	transcript	ENST00000379556.8	protein_coding		1779		chr11	TogoVar
INSR_chr19_7107265_7299414	7197514	G G	GGTGTGTG others(27): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01070.hp2 HG00280.hp1 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0037 a0001c0004t0128 a0001c0002t0037 a0001c0004t0128	a0001c0002t0037g0176 a0001c0004t0128g0179 a0001c0002t0037g0176 a0001c0004t0128g0179	2	300	0.0067	34	c.653 others(53): Show c.653-12878_653-12877insACACACACACACACACACACACACAC ACACACAC	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	2/21			chr19	TogoVar
INTS4_chr11_77873720_77999668	77920178	C C	CATATACA others(27): Show CATATACACATATATACACATATATACACACATAT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0265 a0001c0001t0001g0265	1	362	0.0028	34	c.176 others(53): Show c.1764+1161_1764+1162insATATGTGTGTATATATGTGTATATAT GTGTATAT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920206	C C	CACACATA others(27): Show CACACATATATATACACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19240.hp1 HG02895.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0266 a0001c0001t0002g0097 a0001c0001t0001g0266 a0001c0001t0002g0097	2	362	0.0055	34	c.176 others(53): Show c.1764+1133_1764+1134insATATATATGTGTATATATGTGTATAT ATATGTGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS4_chr11_77873720_77999668	77920232	C C	CACATATA others(27): Show CACATATATATACACATATACATACATATATACAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG03654.hp1 HG01070.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0092 a0001c0002t0001g0093	2	362	0.0055	34	c.176 others(53): Show c.1764+1107_1764+1108insATGTATATATGTATGTATATGTGTAT ATATATGT	INTS4	ENSG00000149262.19	transcript	ENST00000534064.6	protein_coding	14/22			chr11	TogoVar
INTS6_chr13_51356577_51458036	51429785	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 NA19081.hp1 HG01361.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0131 a0001c0001t0009g0135 a0001c0001t0009g0131 a0001c0001t0009g0135	2	358	0.0056	34	c.429 others(49): Show c.429+508_429+509insATATATATATATATATATATATTTTTTTTT TTTT	INTS6	ENSG00000102786.15	transcript	ENST00000311234.9	protein_coding	4/17			chr13	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTATATAT others(27): Show GTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0154 a0001c0001t0017g0154	1	358	0.0028	34	c.144 others(53): Show c.1449+4114_1449+4115insATATATATATATATATATATATATAT ATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
INTU_chr4_127627957_127731737	127691962	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02027.hp2 HG02258.hp1 others(3): Show HG01891.hp1 HG02027.hp2 HG02258.hp1 HG04199.hp2 HG04204.hp2 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0005 a0001c0001 a0001c0016 a0003c0005	a0001c0001t0002 a0001c0001t0057 a0001c0001t0063 others(2): Show a0001c0001t0002 a0001c0001t0057 a0001c0001t0063 a0001c0016t0008 a0003c0005t0008	a0001c0001t0002g0046 a0001c0001t0002g0094 a0001c0001t0057g0109 others(3): Show a0001c0001t0002g0046 a0001c0001t0002g0094 a0001c0001t0057g0109 a0001c0001t0063g0065 a0001c0016t0008g0056 a0003c0005t0008g0057	6	358	0.0168	34	c.144 others(53): Show c.1449+4096_1449+4097insGTATATATATATATATATATATATAT ATATATAT	INTU	ENSG00000164066.13	transcript	ENST00000335251.11	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
IP6K1_chr3_49719294_49791542	49731887	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0074 a0001c0001t0013g0074	1	260	0.0039	34	c.616 others(49): Show c.616+903_616+904insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	4/5			chr3	TogoVar
IP6K1_chr3_49719294_49791542	49780309	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01928.hp2 others(5): Show HG01109.hp1 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG02132.hp1 HG02451.hp2 NA18952.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(5): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0186 a0001c0001t0002g0190 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0005g0145	8	260	0.0308	34	c.-12 others(53): Show c.-129+6044_-129+6045insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGT	IP6K1	ENSG00000176095.12	transcript	ENST00000321599.9	protein_coding	1/5			chr3	TogoVar
IPMK_chr10_58186517_58272894	58211901	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0211 a0002c0002t0002g0211	1	346	0.0029	34	c.546 others(51): Show c.546+4243_546+4244insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	IPMK	ENSG00000151151.6	transcript	ENST00000373935.4	protein_coding	4/5			chr10	TogoVar
IPO5_chr13_97948675_98029296	98010780	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0320 a0001c0001t0001g0320	1	380	0.0026	34	c.205 others(51): Show c.2055+574_2055+575insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	IPO5	ENSG00000065150.21	transcript	ENST00000651721.2	protein_coding	20/28		INFO_REALIGN_3_PRIME	chr13	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0224 a0001c0001t0002g0224	1	314	0.0032	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAAAATATATATATA TATA	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(27): Show AAAAAAAAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0202 a0001c0001t0005g0202	1	314	0.0032	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAAAAAATATATATATATA TATA	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(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0208 a0001c0001t0002g0208	1	314	0.0032	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAAAATATATATATATATATA TATA	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(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp2 NA19240.hp2 NA18960.hp1 NA18960.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0002g0205 a0001c0001t0005g0211 a0001c0001t0001g0051 a0001c0001t0002g0205 a0001c0001t0005g0211	3	314	0.0096	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAAAAAATATATATATATATATATA TATA	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(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0282 a0001c0001t0004g0282	1	314	0.0032	34	c.85- others(49): Show c.85-5948_85-5947insAAAAAAAATATATATATATATATATATATA TATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9397341	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19056.hp2 HG00140.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0003g0171 a0001c0001t0001g0059 a0001c0001t0003g0171	2	314	0.0064	34	c.85- others(49): Show c.85-5948_85-5947insAAAATATATATATATATATATATATATATA TATA	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	1/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO7_chr11_9379652_9453127	9436842	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	314	0.0032	34	c.226 others(51): Show c.2268+503_2268+504insATATATATATATATATATATATATATAT ATATAT	IPO7	ENSG00000205339.10	transcript	ENST00000379719.8	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
IPO9_chr1_201824157_201889291	201859180	A A	AATAAATA others(27): Show AATAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01978.hp2 HG00140.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0196 a0001c0001t0001g0197	2	396	0.0051	34	c.146 others(51): Show c.1468+189_1468+190insAATATATATATATATATATATATATATA TATATA	IPO9	ENSG00000198700.10	transcript	ENST00000361565.9	protein_coding	13/23		INFO_REALIGN_3_PRIME	chr1	TogoVar
IQANK1_chr8_143729139_143795645	143748656	A A	AATCATAT others(27): Show AATCATATATAAATATATAAATATATATCATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01243.hp2 NA18947.hp1 HG00544.hp2 HG01243.hp2 NA18947.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0112 a0001c0001t0001g0123 a0002c0002t0001g0282 a0001c0001t0001g0112 a0001c0001t0001g0123 a0002c0002t0001g0282	3	349	0.0086	34	c.175 others(51): Show c.175+8776_175+8809dupTATCATATATAAATATATAAATATATAT CATATA	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQANK1_chr8_143729139_143795645	143751664	G G	GTGTATAT others(27): Show GTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0060 a0006c0006t0001g0060	1	349	0.0029	34	c.175 others(53): Show c.175+11717_175+11718insGTATATATATATATATATATATATAT ATATATAT	IQANK1	ENSG00000203499.12	transcript	ENST00000527139.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
IQCA1_chr2_236319151_236512476	236347508	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01109.hp1 others(2): Show HG00099.hp1 HG00609.hp1 HG01109.hp1 HG01516.hp1 NA18984.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0017 others(1): Show a0001c0001 a0001c0004 a0001c0017 a0003c0003	a0001c0001t0001 a0001c0004t0002 a0001c0017t0001 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0017t0001 a0003c0003t0003	a0001c0001t0001g0104 a0001c0001t0001g0183 a0001c0004t0002g0085 others(2): Show a0001c0001t0001g0104 a0001c0001t0001g0183 a0001c0004t0002g0085 a0001c0017t0001g0145 a0003c0003t0003g0007	5	208	0.0240	34	c.187 others(53): Show c.1870-2866_1870-2865insTATATATATATATATATATATATATA TATATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236357861	C C	CTATATAA others(27): Show CTATATAAATATACATATACTATATATATTTATAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0110 a0001c0005t0002g0110	1	208	0.0048	34	c.186 others(53): Show c.1869+5918_1869+5919insTTATAAATATATATAGTATATGTATA TTTATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	15/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459589	G G	GTATATAC others(27): Show GTATATACGTATATACGTATATACGTATATACGTA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0200 a0002c0002t0001g0200	1	208	0.0048	34	c.926 others(51): Show c.926+5915_926+5916insTACGTATATACGTATATACGTATATACG TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCA1_chr2_236319151_236512476	236459595	G G	GTATATAC others(27): Show GTATATACGTATATACGTATATACGTATATATGTA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0023 a0002c0002t0008g0023	1	208	0.0048	34	c.926 others(51): Show c.926+5909_926+5910insTACATATATACGTATATACGTATATACG TATATA	IQCA1	ENSG00000132321.17	transcript	ENST00000409907.8	protein_coding	6/18			chr2	TogoVar
IQCF2_chr3_51856615_51868424	51861972	T T	TAAGAGAA others(27): Show TAAGAGAAATCCAGAACATTTATAACTACATCATA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	426	0.0024	34	c.111 others(47): Show c.111+24_111+57dupAGAGAAATCCAGAACATTTATAACTACATCAT AA	IQCF2	ENSG00000184345.5	transcript	ENST00000333127.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200030	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0110 a0001c0001t0002g0110	1	252	0.0040	34	c.10- others(51): Show c.10-45795_10-45794insTATATATATATATATATATATATATATA TATATA	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCJ_chr3_159064319_159268747	159200104	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02630.hp1 HG02683.hp2 others(6): Show HG02258.hp1 HG02630.hp1 HG02683.hp2 HG03139.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19080.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0069 a0001c0001t0001g0200 a0001c0001t0001g0241 others(6): Show a0001c0001t0001g0069 a0001c0001t0001g0200 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0145 a0001c0001t0002g0165 a0001c0001t0002g0247	9	252	0.0357	34	c.10- others(51): Show c.10-45723_10-45722insATATATATATATATATATATATATATAT ATATAT	IQCJ	ENSG00000214216.11	transcript	ENST00000397832.7	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
IQCK_chr16_19713271_19863467	19798421	A A	AAAAAATA others(27): Show AAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	244	0.0041	34	c.690 others(51): Show c.690+9500_690+9501insAAAATATATATATATATATATATATATA TATATA	IQCK	ENSG00000174628.17	transcript	ENST00000695302.1	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr16	TogoVar
IQCM_chr4_149346709_149820843	149368992	G G	GTATATAT others(27): Show GTATATATATGTGTATATATATACACGTGTATATA	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	252	0.0040	34	c.139 others(55): Show c.1391-16927_1391-16926insTATATACACGTGTATATATATACA CATATATATA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	13/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149626392	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02622.hp1 HG03225.hp1 others(3): Show HG02486.hp1 HG02622.hp1 HG03225.hp1 HG03491.hp1 NA19002.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0083 a0001c0001t0001g0124 others(3): Show a0001c0001t0001g0031 a0001c0001t0001g0083 a0001c0001t0001g0124 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0232	6	252	0.0238	34	c.566 others(51): Show c.566-5149_566-5148insATATATATATATATATATATATATATAT ATATAT	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	7/13			chr4	TogoVar
IQCM_chr4_149346709_149820843	149770079	A A	ATAAACTG others(27): Show ATAAACTGCTAGCCAGACTCATGGAGAAAAACTGG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0148 a0001c0001t0002g0148	1	252	0.0040	34	c.-48 others(53): Show c.-48-27374_-48-27341dupCCAGTTTTTCTCCATGAGTCTGGCTA GCAGTTTA	IQCM	ENSG00000234828.9	transcript	ENST00000636793.2	protein_coding	2/13			chr4	TogoVar
IQGAP2_chr5_76398285_76713132	76644295	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0107 a0003c0004t0001g0107	1	222	0.0045	34	c.209 others(53): Show c.2094+3214_2094+3215insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	IQGAP2	ENSG00000145703.17	transcript	ENST00000274364.11	protein_coding	17/35		INFO_REALIGN_3_PRIME	chr5	TogoVar
IRAG1_chr11_10568095_10698755	10622876	G G	GACACACA others(27): Show GACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA19076.hp1 HG01433.hp1 NA19076.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0018 a0001c0002t0002 a0001c0002t0018	a0001c0002t0002g0169 a0001c0002t0018g0008 a0001c0002t0002g0169 a0001c0002t0018g0008	2	278	0.0072	34	c.144 others(51): Show c.1447+901_1447+902insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	10/20			chr11	TogoVar
IRAG1_chr11_10568095_10698755	10680534	A A	AGGAAGAA others(27): Show AGGAAGAAAGGAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0010 a0005c0010t0010	a0005c0010t0010g0224 a0005c0010t0010g0224	1	278	0.0036	34	c.67+ others(51): Show c.67+13001_67+13002insCCTTCCTTCCTTTCTTCCTTTCTTCCTT TCTTCC	IRAG1	ENSG00000072952.21	transcript	ENST00000423302.7	protein_coding	1/20			chr11	TogoVar
IRAG2_chr12_25047706_25113335	25108825	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01175.hp1 HG01256.hp1 others(1): Show HG00099.hp1 HG01175.hp1 HG01256.hp1 HG01258.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0005 a0003c0003t0002 a0003c0003t0005	a0003c0003t0002g0079 a0003c0003t0002g0184 a0003c0003t0002g0201 others(1): Show a0003c0003t0002g0079 a0003c0003t0002g0184 a0003c0003t0002g0201 a0003c0003t0005g0036	4	344	0.0116	34	c.76 others(43): Show c.765_*766insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding		491		chr12	TogoVar
IRAK1BP1_chr6_78862551_78908102	78866973	A A	ATATATAT others(27): Show ATATATATTAGAATATATTATATATTAGAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19065.hp2 NA19091.hp2 NA19003.hp2 NA19065.hp2 NA19091.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0040 a0002c0003t0104 a0002c0003t0040 a0002c0003t0104	a0002c0003t0040g0065 a0002c0003t0040g0067 a0002c0003t0104g0066 a0002c0003t0040g0065 a0002c0003t0040g0067 a0002c0003t0104g0066	3	346	0.0087	34	c.-60 others(43): Show c.-604_-603insTATATATTAGAATATATTATATATTAGAATATAT	IRAK1BP1	ENSG00000146243.14	transcript	ENST00000369940.7	protein_coding		577		chr6	TogoVar
IRAK3_chr12_66184214_66259622	66215788	A A	AAGTGCAC others(27): Show AAGTGCACGTGCGCGCGCGCGCGCGCGCGCGCGCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02622.hp2 HG02647.hp1 others(1): Show HG01884.hp1 HG02622.hp2 HG02647.hp1 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0056 a0002c0002t0010 a0002c0002t0056	a0002c0002t0010g0002 a0002c0002t0010g0020 a0002c0002t0056g0328 a0002c0002t0010g0002 a0002c0002t0010g0020 a0002c0002t0056g0328	4	346	0.0116	34	c.589 others(51): Show c.589-1383_589-1382insAGTGCACGTGCGCGCGCGCGCGCGCGCG CGCGCG	IRAK3	ENSG00000090376.11	transcript	ENST00000261233.9	protein_coding	5/11			chr12	TogoVar
IREB2_chr15_78433216_78506453	78434342	G G	GCATGTGT others(27): Show GCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0356 a0001c0002t0005g0356	1	420	0.0024	34	c.-39 others(45): Show c.-3996_-3995insCATGTGTGCGCGTGCGCGCGCGCACGCGCACACA	IREB2	ENSG00000136381.13	transcript	ENST00000258886.13	protein_coding		3873		chr15	TogoVar

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