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
IGF2R_chr6_159964082_160116504	160012745	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03927.hp2 HG00738.hp1 HG03927.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0002 a0002c0003t0014 a0001c0004t0002 a0002c0003t0014	a0001c0004t0002g0065 a0002c0003t0014g0177 a0001c0004t0002g0065 a0002c0003t0014g0177	2	310	0.0065	32	c.513 others(49): Show c.513+1979_513+1980insATATATATATATATATATATATATATAT ATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160012745	T T	TTATTTAT others(25): Show TTATTTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0004 a0001c0049t0004	a0001c0049t0004g0090 a0001c0049t0004g0090	1	310	0.0032	32	c.513 others(49): Show c.513+1963_513+1964insTTATATATATATATATATATATATATAT ATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	4/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0143 a0001c0009t0005g0143	1	310	0.0032	32	c.411 others(49): Show c.4115+914_4115+915insGTATATATATATATATATATATATATAT ATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160065814	G G	GTGTATGT others(25): Show GTGTATGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0029 a0029	a0029c0038 a0029c0038	a0029c0038t0003 a0029c0038t0003	a0029c0038t0003g0286 a0029c0038t0003g0286	1	310	0.0032	32	c.411 others(49): Show c.4115+914_4115+915insGTATGTATATATATATATATATATATAT ATAT	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	29/47		INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2R_chr6_159964082_160116504	160106183	T T	TGGGCGGG others(25): Show TGGGCGGGTACAGCGCGGAGGAGGAGGGAGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0051 a0001c0004t0051	a0001c0004t0051g0178 a0001c0004t0051g0178	1	310	0.0032	32	c.11 others(43): Show c.1100_*1131dupGGGCGGGTACAGCGCGGAGGAGGAGGGAGGCC	IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	48/48	1132	INFO_REALIGN_3_PRIME	chr6	TogoVar
IGF2_chr11_2124117_2144389	2127286	T T	TGAGTGGA others(25): Show TGAGTGGATGGATGAGTGGAGGGATGGGTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02109.hp1 others(12): Show HG00642.hp2 HG01243.hp1 HG02109.hp1 HG02145.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG03195.hp2 NA18522.hp1 NA18906.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0059 a0001c0001t0080 others(10): Show a0001c0001t0022 a0001c0001t0059 a0001c0001t0080 a0001c0001t0092 a0001c0001t0100 a0001c0001t0109 a0001c0001t0112 a0001c0001t0132 a0001c0001t0138 a0001c0001t0139 a0001c0001t0142 a0001c0001t0166 a0001c0001t0167	a0001c0001t0022g0223 a0001c0001t0022g0224 a0001c0001t0022g0227 others(12): Show a0001c0001t0022g0223 a0001c0001t0022g0224 a0001c0001t0022g0227 a0001c0001t0059g0041 a0001c0001t0080g0078 a0001c0001t0092g0096 a0001c0001t0100g0103 a0001c0001t0109g0120 a0001c0001t0112g0123 a0001c0001t0132g0179 a0001c0001t0138g0191 a0001c0001t0139g0190 a0001c0001t0142g0192 a0001c0001t0166g0228 a0001c0001t0167g0209	15	388	0.0387	32	c.57 others(43): Show c.5700_*5701insCTCCACCCATCCCTCCACTCATCCATCCACTC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1830		chr11	TogoVar
IGF2_chr11_2124117_2144389	2127286	T T	TGAGTGGA others(25): Show TGAGTGGATGGATGGGTGGAGGGATGGGTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0084 a0001c0001t0084	a0001c0001t0084g0082 a0001c0001t0084g0082	1	388	0.0026	32	c.57 others(43): Show c.5700_*5701insCTCCACCCATCCCTCCACCCATCCATCCACTC	IGF2	ENSG00000167244.22	transcript	ENST00000416167.7	protein_coding		1830		chr11	TogoVar
IGFBP4_chr17_40438450_40462725	40461130	T T	TCCAGAGC others(25): Show TCCAGAGCCAGGATTAAAACTCTGGCACTAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	390	0.0026	32	c.45 others(43): Show c.4547_*4548insCCAGAGCCAGGATTAAAACTCTGGCACTAAGC	IGFBP4	ENSG00000141753.7	transcript	ENST00000269593.5	protein_coding		3406		chr17	TogoVar
IGFL4_chr19_46034182_46046002	46034734	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01257.hp1 NA18940.hp1 others(4): Show HG00639.hp1 HG01257.hp1 NA18940.hp1 NA18945.hp2 NA18961.hp1 NA18974.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	7	454	0.0154	32	c.51 others(43): Show c.5157_*5158insATATATATATATATATATATATATATATATAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4447		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034736	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19055.hp2 NA19055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	32	c.51 others(43): Show c.5155_*5156insATATATATATATATATATATATATATATATAT	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4445		chr19	TogoVar
IGFL4_chr19_46034182_46046002	46034749	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	454	0.0022	32	c.51 others(43): Show c.5142_*5143insAATATATATATATATATATATATATATATATA	IGFL4	ENSG00000204869.9	transcript	ENST00000377697.2	protein_coding		4432		chr19	TogoVar
IGLON5_chr19_51306644_51335891	51335396	C C	CAAGAGAG others(25): Show CAAGAGAGGATGCTGTGTTTGACCAGAGCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0110 a0001c0001t0005g0110	1	418	0.0024	32	c.66 others(43): Show c.6637_*6638insAAGAGAGGATGCTGTGTTTGACCAGAGCCTTG	IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding		4506		chr19	TogoVar
IGSF21_chr1_18102798_18383483	18208376	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01257.hp2 others(5): Show HG00280.hp2 HG00738.hp2 HG01257.hp2 HG01258.hp2 HG02451.hp1 HG03688.hp2 HG03704.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0014	a0001c0001t0001g0010 a0001c0001t0001g0124 a0001c0001t0002g0070 others(5): Show a0001c0001t0001g0010 a0001c0001t0001g0124 a0001c0001t0002g0070 a0001c0001t0004g0157 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0010g0227 a0001c0001t0014g0038	8	248	0.0323	32	c.71- others(49): Show c.71-19502_71-19501insATATATATATATATATATATATATATAT ATAT	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01517.hp1 HG01517.hp2 HG01070.hp1 HG01517.hp1 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0171 a0001c0001t0004g0190 a0001c0001t0001g0073 a0001c0001t0004g0171 a0001c0001t0004g0190	3	248	0.0121	32	c.71- others(47): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCACACACACACACAC AC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0241 a0001c0001t0008g0241	1	248	0.0040	32	c.71- others(47): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCACACACACACAC AC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18225085	T T	TCTCTCTC others(25): Show TCTCTCTCTCTCTCTCTCTCTCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0203 a0002c0002t0003g0203	1	248	0.0040	32	c.71- others(47): Show c.71-2812_71-2811insTCTCTCTCTCTCTCTCTCTCTCTCACACAC AC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18273462	C C	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02630.hp2 others(1): Show HG01109.hp2 HG02630.hp1 HG02630.hp2 HG03209.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0009 a0001c0004t0003 a0002c0002t0002 a0001c0001t0009 a0001c0004t0003 a0002c0002t0002	a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0004t0003g0201 others(1): Show a0001c0001t0009g0018 a0001c0001t0009g0032 a0001c0004t0003g0201 a0002c0002t0002g0140	4	248	0.0161	32	c.184 others(51): Show c.184-18377_184-18346dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IGSF21_chr1_18102798_18383483	18359371	A A	AAAGAAAG others(25): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0003 a0005c0008t0003	a0005c0008t0003g0146 a0005c0008t0003g0146	1	248	0.0040	32	c.425 others(49): Show c.425-2729_425-2728insAAAGAAAGAAAGAAAGGAAGAAAGAAAG AAAG	IGSF21	ENSG00000117154.12	transcript	ENST00000251296.4	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
IHO1_chr3_49194498_49263106	49200471	A A	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	196	0.0051	32	c.-16 others(47): Show c.-16+901_-16+902insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19090.hp2 NA19000.hp2 NA19090.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0006 a0002c0004t0002g0009 a0002c0004t0002g0006 a0002c0004t0002g0009	2	196	0.0102	32	c.56+ others(47): Show c.56+2797_56+2798insATATATATATATATATATATATATTTTTTT TT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	196	0.0051	32	c.56+ others(47): Show c.56+2797_56+2798insATATATATATATATATATTTTTTTTTTTTT TT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IHO1_chr3_49194498_49263106	49214632	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	196	0.0051	32	c.56+ others(47): Show c.56+2797_56+2798insATATATATATATATATTTTTTTTTTTTTTT TT	IHO1	ENSG00000173421.17	transcript	ENST00000452691.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
IKBKB_chr8_42266302_42337460	42269457	A A	AGGGGAGG others(25): Show AGGGGAGGGGAAGGGGGGAGGGGAGGGGAAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	278	0.0036	32	c.-20 others(43): Show c.-2031_-2030insGGGGAGGGGAAGGGGGGAGGGGAGGGGAAGGG	IKBKB	ENSG00000104365.16	transcript	ENST00000520810.6	protein_coding		1844		chr8	TogoVar
IKZF3_chr17_39752718_39869312	39811235	T T	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG03098.hp1 others(2): Show HG02717.hp1 HG02970.hp2 HG03098.hp1 HG03516.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0040 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0040 a0001c0001t0054	a0001c0001t0007g0142 a0001c0001t0021g0137 a0001c0001t0021g0140 others(2): Show a0001c0001t0007g0142 a0001c0001t0021g0137 a0001c0001t0021g0140 a0001c0001t0040g0147 a0001c0001t0054g0138	5	256	0.0195	32	c.163 others(51): Show c.163+18151_163+18152insTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	3/7			chr17	TogoVar
IKZF3_chr17_39752718_39869312	39850929	A A	ATATATAC others(25): Show ATATATACGTGTATATATTATATACACGTATAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18986.hp2 NA19003.hp1 others(1): Show NA18747.hp2 NA18986.hp2 NA19003.hp1 NA19079.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0010 a0001c0002t0002 a0003c0006t0048 a0001c0001t0010 a0001c0002t0002 a0003c0006t0048	a0001c0001t0010g0164 a0001c0002t0002g0162 a0001c0002t0002g0163 others(1): Show a0001c0001t0010g0164 a0001c0002t0002g0162 a0001c0002t0002g0163 a0003c0006t0048g0181	4	256	0.0156	32	c.7+1 others(47): Show c.7+13159_7+13190dupATATACGTGTATATAATATATACACGTATA TA	IKZF3	ENSG00000161405.17	transcript	ENST00000346872.8	protein_coding	1/7			chr17	TogoVar
IK_chr5_140642829_140667480	140660292	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	380	0.0026	32	c.135 others(49): Show c.1355+119_1355+120insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
IK_chr5_140642829_140667480	140664227	G G	GGAGACTG others(25): Show GGAGACTGATGTGCACTAGCTCGAAGCTATGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0082 a0001c0001t0002g0082	1	380	0.0026	32	c.18 others(43): Show c.1898_*1899insGAGACTGATGTGCACTAGCTCGAAGCTATGCA	IK	ENSG00000113141.19	transcript	ENST00000417647.7	protein_coding		1748		chr5	TogoVar
IL12RB2_chr1_67302873_67403724	67367462	G G	GGGAAGGA others(25): Show GGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	346	0.0029	32	c.125 others(49): Show c.1259-338_1259-337insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAG	IL12RB2	ENSG00000081985.14	transcript	ENST00000674203.2	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
IL13RA1_chrX_118722606_118799533	118795227	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	280	0.0036	32	c.33 others(43): Show c.3373_*3374insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	IL13RA1	ENSG00000131724.11	transcript	ENST00000371666.8	protein_coding		695		chrX	TogoVar
IL16_chr15_81191879_81319058	81231320	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0150 a0001c0005t0009g0150	1	342	0.0029	32	c.312 others(49): Show c.312+5612_312+5613insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL16_chr15_81191879_81319058	81243163	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01952.hp2 HG01261.hp1 HG01361.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0002t0005g0149 a0001c0002t0005g0063 a0001c0002t0005g0064 a0001c0002t0005g0149	3	342	0.0088	32	c.313 others(51): Show c.313-16608_313-16607insATATATATATATATATATATATATAT TTTTTT	IL16	ENSG00000172349.19	transcript	ENST00000683961.1	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
IL17B_chr5_149369267_149384292	149370033	T T	TTTTTTTT others(25): Show TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	386	0.0026	32	c.43 others(43): Show c.4335_*4336insGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	IL17B	ENSG00000127743.6	transcript	ENST00000261796.4	protein_coding		4233		chr5	TogoVar
IL17RA_chr22_17080000_17120693	17094665	C C	CTATATAT others(25): Show CTATATATATATATATATATGTGTATATATATA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0018 a0004c0004t0018	a0004c0004t0018g0137 a0004c0004t0018g0137	1	416	0.0024	32	c.139 others(49): Show c.139-2396_139-2395insATATATATATATATATATGTGTATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTATAT others(25): Show CTCTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	416	0.0024	32	c.139 others(49): Show c.139-2370_139-2369insCTATATATATATATATATATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTAT others(25): Show CTCTCTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	416	0.0024	32	c.139 others(49): Show c.139-2370_139-2369insCTCTATATATATATATATATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG02970.hp1 HG00621.hp1 HG01109.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0145 a0001c0001t0001g0224 a0001c0001t0002g0222 a0001c0001t0001g0145 a0001c0001t0001g0224 a0001c0001t0002g0222	3	416	0.0072	32	c.139 others(49): Show c.139-2370_139-2369insCTCTCTCTCTCTATATATATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19084.hp2 HG03209.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0052 a0001c0001t0001 a0002c0005t0052	a0001c0001t0001g0146 a0002c0005t0052g0387 a0001c0001t0001g0146 a0002c0005t0052g0387	2	416	0.0048	32	c.139 others(49): Show c.139-2370_139-2369insCTCTCTCTCTCTCTATATATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18522.hp2 NA18948.hp2 others(2): Show HG01934.hp2 NA18522.hp2 NA18948.hp2 NA18977.hp1 NA19060.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0017	a0001c0001 a0001c0006 a0002c0009 others(2): Show a0001c0001 a0001c0006 a0002c0009 a0005c0007 a0017c0032	a0001c0001t0027 a0001c0006t0001 a0002c0009t0021 others(2): Show a0001c0001t0027 a0001c0006t0001 a0002c0009t0021 a0005c0007t0003 a0017c0032t0068	a0001c0001t0027g0027 a0001c0006t0001g0152 a0002c0009t0021g0389 others(2): Show a0001c0001t0027g0027 a0001c0006t0001g0152 a0002c0009t0021g0389 a0005c0007t0003g0168 a0017c0032t0068g0250	5	416	0.0120	32	c.139 others(49): Show c.139-2370_139-2369insCTCTCTCTCTCTCTCTATATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RA_chr22_17080000_17120693	17094691	C C	CTCTCTCT others(25): Show CTCTCTCTCTCTCTCTCTCTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02129.hp1 NA18941.hp1 others(1): Show HG01168.hp2 HG02129.hp1 NA18941.hp1 NA18983.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0001c0036 others(1): Show a0001c0001 a0001c0006 a0001c0036 a0002c0003	a0001c0001t0001 a0001c0006t0094 a0001c0036t0091 others(1): Show a0001c0001t0001 a0001c0006t0094 a0001c0036t0091 a0002c0003t0042	a0001c0001t0001g0158 a0001c0006t0094g0281 a0001c0036t0091g0289 others(1): Show a0001c0001t0001g0158 a0001c0006t0094g0281 a0001c0036t0091g0289 a0002c0003t0042g0028	4	416	0.0096	32	c.139 others(49): Show c.139-2370_139-2369insCTCTCTCTCTCTCTCTCTATATATATAT ATAT	IL17RA	ENSG00000177663.15	transcript	ENST00000319363.11	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
IL17RC_chr3_9912098_9938621	9931470	C C	CACACACA others(25): Show CACACACACACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	390	0.0026	32	c.138 others(49): Show c.1387+528_1387+529insCACACACACACACACACACATATATATA TATA	IL17RC	ENSG00000163702.21	transcript	ENST00000403601.8	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr3	TogoVar
IL17RD_chr3_57084982_57170353	57127189	T T	TATATATA others(25): Show TATATATATAAATATATATAAAAATATATATAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0085 a0001c0001t0033g0085	1	354	0.0028	32	c.127 others(49): Show c.127-6908_127-6877dupTTATATATATTTTTATATATATTTATAT ATAT	IL17RD	ENSG00000144730.19	transcript	ENST00000296318.12	protein_coding	1/12			chr3	TogoVar
IL18R1_chr2_102350796_102403776	102352869	A A	AATATATA others(25): Show AATATATAATATATTATATATGATATATATTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0112	1	366	0.0027	32	c.-35 others(43): Show c.-3560_-3559insATATATAATATATTATATATGATATATATTTT	IL18R1	ENSG00000115604.12	transcript	ENST00000233957.7	protein_coding		2926		chr2	TogoVar
IL1RAPL1_chrX_28582446_29961718	29319144	A A	ATCTGTCT others(25): Show ATCTGTCTATCTATCTATCTGTCTGTCTGCCTG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG02027.hp1 others(6): Show HG00408.hp1 HG01106.hp1 HG02027.hp1 HG02074.hp1 HG02922.hp2 HG03195.hp2 HG03471.hp1 HG03540.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0015	a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0117 others(6): Show a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0002g0041 a0001c0001t0002g0054 a0001c0001t0003g0030 a0001c0001t0006g0114 a0001c0001t0007g0133 a0001c0001t0015g0046	9	135	0.0667	32	c.362 others(51): Show c.362+35938_362+35939insATCTATCTGTCTGTCTGCCTGTCTGT CTATCT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29319152	A A	ATCTATCT others(25): Show ATCTATCTATCTGTCTGTCTGCCTGTCTGTCTG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	135	0.0074	32	c.362 others(51): Show c.362+35938_362+35939insATCTATCTGTCTGTCTGCCTGTCTGT CTGTCT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29350191	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02698.hp1 HG03098.hp1 others(1): Show HG02622.hp2 HG02698.hp1 HG03098.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0116 a0001c0001t0002g0016 a0001c0001t0002g0050 others(1): Show a0001c0001t0001g0116 a0001c0001t0002g0016 a0001c0001t0002g0050 a0001c0001t0008g0060	4	135	0.0296	32	c.363 others(51): Show c.363-46065_363-46034dupATATATATATATATATATATATATAT ATATAT	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29479414	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	135	0.0074	32	c.703 others(51): Show c.703+80123_703+80124insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(25): Show TATTTAAAGATCAAAAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02056.hp1 HG02258.hp1 others(12): Show HG01106.hp1 HG02056.hp1 HG02258.hp1 HG02572.hp1 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp1 HG03540.hp2 NA18522.hp1 NA18982.hp1 NA18989.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0068 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0002g0047 a0001c0001t0003g0030 a0001c0001t0004g0126 a0001c0001t0006g0098 a0001c0001t0007g0066 a0001c0001t0007g0133 a0001c0001t0011g0051	15	135	0.1111	32	c.704 others(53): Show c.704-100301_704-100300insAAATAACAGATTATTCTTGATTTA AAGATCAA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568116	T T	TATTTAAA others(25): Show TATTTAAAGATCAAGAATAACAGATTATTCTTG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01099.hp1 others(44): Show HG00408.hp2 HG00609.hp1 HG01099.hp1 HG01192.hp1 HG01433.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG02055.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02280.hp1 HG02300.hp1 HG02602.hp1 HG03130.hp1 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp1 NA18944.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18977.hp1 NA18983.hp1 NA18984.hp1 NA18986.hp1 NA18994.hp1 NA19004.hp1 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19066.hp1 NA19079.hp1 NA19086.hp1 NA20300.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017	a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0075 others(44): Show a0001c0001t0001g0064 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0003g0008 a0001c0001t0003g0029 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0039 a0001c0001t0003g0049 a0001c0001t0004g0069 a0001c0001t0004g0073 a0001c0001t0004g0079 a0001c0001t0004g0085 a0001c0001t0005g0065 a0001c0001t0005g0091 a0001c0001t0005g0105 a0001c0001t0006g0123 a0001c0001t0012g0040 a0001c0001t0015g0046 a0001c0001t0016g0045 a0001c0001t0017g0014	47	135	0.3482	32	c.704 others(53): Show c.704-100124_704-100093dupTTGATTTAAAGATCAAGAATAACA GATTATTC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29568187	A A	AGATCAAG others(25): Show AGATCAAGAATAACAGATTATTCTTGATTTAAG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03225.hp1 NA18522.hp1 others(1): Show HG02572.hp1 HG03225.hp1 NA18522.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0110 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0068 a0001c0001t0001g0110 a0001c0001t0011g0051	4	135	0.0296	32	c.704 others(53): Show c.704-100212_704-100211insGGATCAAGAATAACAGATTATTCT TGATTTAA	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IL1RAPL1_chrX_28582446_29961718	29903184	G G	GTGTGAGA others(25): Show GTGTGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp1 HG02572.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0024 a0001c0001t0011g0051 a0001c0001t0011g0024 a0001c0001t0011g0051	2	135	0.0148	32	c.779 others(51): Show c.779-14280_779-14279insTGTGAGAGAGAGAGAGAGAGAGAGAG AGAGAC	IL1RAPL1	ENSG00000169306.11	transcript	ENST00000378993.6	protein_coding	6/10			chrX	TogoVar

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