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
ITPR2_chr12_26330352_26838194	26589813	TAAATAAA others(13): Show TAAATAAATAAATAAATAAAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0065 a0001c0065	a0001c0065t0024 a0001c0065t0024	a0001c0065t0024g0141 a0001c0065t0024g0141	1	142	0.0070	-20	c.438 others(39): Show c.4380+5632_4380+5651delGTTTATTTATTTATTTATTT	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	32/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26649773	CTAGATAG others(13): Show CTAGATAGATAGATAGATAGA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0039 a0001c0005t0002g0039	1	142	0.0070	-20	c.274 others(39): Show c.2740+4183_2740+4202delTCTATCTATCTATCTATCTA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	21/56			chr12	TogoVar
ITPR2_chr12_26330352_26838194	26782014	ATATATAT others(13): Show ATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03041.hp1 HG01192.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0095 a0001c0001t0017g0102 a0001c0001t0002g0095 a0001c0001t0017g0102	2	142	0.0141	-20	c.163 others(37): Show c.163+8123_163+8142delCATATATATATATATATATA	ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56			chr12	TogoVar
ITPRID1_chr7_31509090_31661504	31519604	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03098.hp1 HG06807.hp1 others(1): Show HG02647.hp2 HG03098.hp1 HG06807.hp1 NA19043.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0014 a0004c0006 a0001c0002 a0001c0014 a0004c0006	a0001c0002t0002 a0001c0014t0018 a0004c0006t0006 a0001c0002t0002 a0001c0014t0018 a0004c0006t0006	a0001c0002t0002g0301 a0001c0014t0018g0132 a0004c0006t0006g0299 others(1): Show a0001c0002t0002g0301 a0001c0014t0018g0132 a0004c0006t0006g0299 a0004c0006t0006g0300	4	312	0.0128	-20	c.-98 others(37): Show c.-98+5486_-98+5505delCTCTCTCTCTCTCTCTATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31519606	CTCTCTCT others(13): Show CTCTCTCTCTCTCTCTATATA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp2 NA21309.hp1 HG02145.hp2 HG02451.hp2 NA21309.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0006 a0004c0006t0009 a0004c0006t0006 a0004c0006t0009	a0004c0006t0006g0302 a0004c0006t0006g0303 a0004c0006t0009g0304 a0004c0006t0006g0302 a0004c0006t0006g0303 a0004c0006t0009g0304	3	312	0.0096	-20	c.-98 others(37): Show c.-98+5488_-98+5507delCTCTCTCTCTCTCTATATAT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31520552	TGTGTGTG others(13): Show TGTGTGTGTGTGTGAGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03453.hp1 NA18945.hp2 others(3): Show HG02895.hp1 HG03453.hp1 NA18945.hp2 NA18957.hp2 NA18991.hp2 NA19030.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0026	a0001c0003 a0002c0001 a0004c0006 others(1): Show a0001c0003 a0002c0001 a0004c0006 a0026c0030	a0001c0003t0001 a0002c0001t0001 a0004c0006t0006 others(1): Show a0001c0003t0001 a0002c0001t0001 a0004c0006t0006 a0026c0030t0023	a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0051 others(3): Show a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0051 a0002c0001t0001g0169 a0004c0006t0006g0228 a0026c0030t0023g0170	6	312	0.0192	-20	c.-98 others(37): Show c.-98+6434_-98+6453delTGTGTGTGTGTGAGAGAGAG	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31521615	TTTCCCTC others(13): Show TTTCCCTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02027.hp2 HG02129.hp2 others(18): Show HG00423.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG03486.hp2 HG03942.hp1 NA18945.hp1 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18957.hp2 NA18984.hp2 NA18995.hp2 NA18999.hp2 NA19005.hp2 NA19007.hp2 NA19089.hp1 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0001c0011 others(2): Show a0001c0002 a0001c0003 a0001c0011 a0004c0006 a0004c0028	a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0001c0011t0002 a0004c0006t0006 a0004c0028t0003	a0001c0002t0002g0037 a0001c0003t0001g0014 a0001c0003t0001g0015 others(18): Show a0001c0002t0002g0037 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0020 a0001c0003t0001g0028 a0001c0003t0001g0036 a0001c0003t0001g0049 a0001c0003t0001g0056 a0001c0003t0001g0071 a0001c0003t0001g0078 a0001c0003t0002g0050 a0001c0011t0001g0012 a0001c0011t0002g0033 a0001c0011t0002g0038 a0001c0011t0002g0060 a0001c0011t0002g0077 a0004c0006t0006g0129 a0004c0006t0006g0302 a0004c0028t0003g0058	21	312	0.0673	-20	c.-98 others(37): Show c.-98+7500_-98+7519delCTCCTTCCTTCCTTCCTTCC	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31521620	CTCCTTCC others(13): Show CTCCTTCCTTCCTTCCTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01243.hp1 HG01358.hp1 others(7): Show HG01106.hp1 HG01243.hp1 HG01358.hp1 HG01361.hp1 HG02280.hp1 HG02486.hp1 HG02622.hp1 HG03209.hp2 NA18969.hp2 NA18982.hp2	a0002 a0003 a0006 others(2): Show a0002 a0003 a0006 a0007 a0014	a0002c0001 a0002c0004 a0003c0012 others(3): Show a0002c0001 a0002c0004 a0003c0012 a0006c0010 a0007c0013 a0014c0024	a0002c0001t0001 a0002c0001t0002 a0002c0004t0001 others(4): Show a0002c0001t0001 a0002c0001t0002 a0002c0004t0001 a0003c0012t0006 a0006c0010t0004 a0007c0013t0008 a0014c0024t0006	a0002c0001t0001g0248 a0002c0001t0002g0242 a0002c0001t0002g0247 others(7): Show a0002c0001t0001g0248 a0002c0001t0002g0242 a0002c0001t0002g0247 a0002c0001t0002g0254 a0002c0001t0002g0257 a0002c0004t0001g0252 a0003c0012t0006g0278 a0006c0010t0004g0222 a0007c0013t0008g0265 a0014c0024t0006g0253	10	312	0.0321	-20	c.-98 others(37): Show c.-98+7549_-98+7568delTCCTTCCTTCCTTCCTTCCT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRID1_chr7_31509090_31661504	31599585	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0018 a0001c0014t0018	a0001c0014t0018g0132 a0001c0014t0018g0132	1	312	0.0032	-20	c.122 others(41): Show c.1228+16438_1228+16457delCTTTCTTTCTTTCTTTCTTT	ITPRID1	ENSG00000180347.15	transcript	ENST00000615280.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
ITPRIPL1_chr2_96320317_96333353	96329149	TTATATAT others(13): Show TTATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 NA19043.hp2 NA19074.hp1 HG04204.hp2 NA19043.hp2 NA19074.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0005 a0002c0002 a0003c0003 a0001c0005 a0002c0002 a0003c0003	a0001c0005t0001 a0002c0002t0001 a0003c0003t0001 a0001c0005t0001 a0002c0002t0001 a0003c0003t0001	a0001c0005t0001g0001 a0002c0002t0001g0001 a0003c0003t0001g0002 a0001c0005t0001g0001 a0002c0002t0001g0001 a0003c0003t0001g0002	3	364	0.0082	-20	c.85 others(29): Show c.851_*870delTATATATATATATATATATA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		797		chr2	TogoVar
ITPRIPL1_chr2_96320317_96333353	96330247	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	364	0.0028	-20	c.19 others(31): Show c.1949_*1968delAAAAAAAAAAAAAAAAAAAA	ITPRIPL1	ENSG00000198885.10	transcript	ENST00000439118.3	protein_coding		1895		chr2	TogoVar
ITPRIP_chr10_104304700_104343465	104306054	TGCGCGCG others(13): Show TGCGCGCGCGCGCGCGCGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02647.hp1 others(6): Show HG02145.hp2 HG02630.hp2 HG02647.hp1 HG02922.hp2 HG03471.hp2 HG03516.hp1 NA18985.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0027 a0002c0003t0009	a0001c0001t0003g0015 a0001c0001t0006g0028 a0001c0001t0006g0098 others(5): Show a0001c0001t0003g0015 a0001c0001t0006g0028 a0001c0001t0006g0098 a0001c0001t0008g0072 a0001c0001t0009g0086 a0001c0001t0014g0043 a0001c0001t0027g0198 a0002c0003t0009g0018	9	324	0.0278	-20	c.83 others(31): Show c.8334_*8353delGCACGCGCGCGCGCGCGCGC	ITPRIP	ENSG00000148841.17	transcript	ENST00000337478.3	protein_coding		3645		chr10	TogoVar
ITSN1_chr21_33637501_33904861	33650982	GTAGCGGG others(13): Show GTAGCGGGGTTACCAGGATGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0079 a0001c0001t0021g0079	1	242	0.0041	-20	c.-33 others(37): Show c.-33+8274_-33+8293delGGGGTTACCAGGATGTTAGC	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33690775	GTATATAT others(13): Show GTATATATATATATACATATA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03098.hp1 NA18942.hp2 others(4): Show HG02135.hp1 HG03098.hp1 NA18942.hp2 NA18975.hp1 NA18979.hp1 NA19054.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0034 a0001c0002t0017 a0001c0002t0043	a0001c0001t0001g0042 a0001c0001t0002g0018 a0001c0001t0002g0022 others(4): Show a0001c0001t0001g0042 a0001c0001t0002g0018 a0001c0001t0002g0022 a0001c0001t0003g0026 a0001c0001t0034g0023 a0001c0002t0017g0012 a0001c0002t0043g0060	7	242	0.0289	-20	c.-32 others(39): Show c.-32-28007_-32-27988delCATATATATATATATATATA	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN1_chr21_33637501_33904861	33876102	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01261.hp1 HG01346.hp2 others(2): Show HG01167.hp2 HG01261.hp1 HG01346.hp2 HG01928.hp2 HG02273.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0001c0005 a0001c0012 others(1): Show a0001c0003 a0001c0005 a0001c0012 a0006c0017	a0001c0003t0004 a0001c0005t0002 a0001c0012t0001 others(1): Show a0001c0003t0004 a0001c0005t0002 a0001c0012t0001 a0006c0017t0038	a0001c0003t0004g0084 a0001c0003t0004g0156 a0001c0005t0002g0085 others(2): Show a0001c0003t0004g0084 a0001c0003t0004g0156 a0001c0005t0002g0085 a0001c0012t0001g0005 a0006c0017t0038g0140	5	242	0.0207	-20	c.434 others(37): Show c.4341+614_4341+633delTTCTTTCTTTCTTTCTTTCT	ITSN1	ENSG00000205726.15	transcript	ENST00000381318.8	protein_coding	34/39		INFO_REALIGN_3_PRIME	chr21	TogoVar
ITSN2_chr2_24197864_24365536	24218581	TGTGTGTG others(13): Show TGTGTGTGTGTACACACACGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0151 a0001c0005t0001g0151	1	224	0.0045	-20	c.370 others(37): Show c.3700-588_3700-569delGCGTGTGTGTACACACACAC	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	30/39			chr2	TogoVar
ITSN2_chr2_24197864_24365536	24320525	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0022 a0004c0004t0001g0022	1	224	0.0045	-20	c.32- others(35): Show c.32-5321_32-5302delTTTTTTTTTTTTTTTTTTTT	ITSN2	ENSG00000198399.16	transcript	ENST00000355123.9	protein_coding	2/39			chr2	TogoVar
IYD_chr6_150364012_150410969	150388630	GCTTTCTT others(13): Show GCTTTCTTTCTTTCTTTCTTT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	414	0.0024	-20	c.179 others(35): Show c.179-686_179-667delTCTTTCTTTCTTTCTTTCTT	IYD	ENSG00000009765.15	transcript	ENST00000344419.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
IZUMO2_chr19_50147548_50168281	50163953	TATATATA others(13): Show TATATATATATATATATATAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	394	0.0025	-20	c.-77 others(29): Show c.-779_-760delCTATATATATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		673		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163957	TATATATA others(13): Show TATATATATATATATAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-20	c.-78 others(29): Show c.-783_-764delCTCTCTATATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		677		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163959	TATATATA others(13): Show TATATATATATATAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	394	0.0025	-20	c.-78 others(29): Show c.-785_-766delCTCTCTCTATATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		679		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163961	TATATATA others(13): Show TATATATATATAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	2	394	0.0051	-20	c.-78 others(29): Show c.-787_-768delCTCTCTCTCTATATATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		681		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163965	TATATATA others(13): Show TATATATAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	394	0.0025	-20	c.-79 others(29): Show c.-791_-772delCTCTCTCTCTCTCTATATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		685		chr19	TogoVar
IZUMO2_chr19_50147548_50168281	50163967	TATATAGA others(13): Show TATATAGAGAGAGAGAGAGAG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	394	0.0025	-20	c.-79 others(29): Show c.-793_-774delCTCTCTCTCTCTCTCTATAT	IZUMO2	ENSG00000161652.13	transcript	ENST00000293405.8	protein_coding		687		chr19	TogoVar
IZUMO3_chr9_24537952_24550897	24546367	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(108): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp2 HG00673.hp2 HG01496.hp1 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp1 NA18976.hp1 NA18977.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18986.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19003.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0002t0002 a0001c0002t0010 a0002c0003t0001 a0002c0003t0011 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(27): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0040 a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0002g0011 a0001c0001t0006g0038 a0001c0001t0006g0059 a0001c0001t0007g0045 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0002g0008 a0001c0002t0002g0024 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0010g0072 a0002c0003t0001g0039 a0002c0003t0001g0066 a0002c0003t0011g0079 a0003c0004t0001g0029	111	426	0.2606	-20	c.-73 others(29): Show c.-738_-719delAAGGAAGGAAGGAAGGAAGG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		471		chr9	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	CCTTTTCT others(13): Show CCTTTTCTTTTCTTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG01256.hp1 HG02698.hp1 others(2): Show HG00140.hp1 HG01256.hp1 HG02698.hp1 HG03195.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007	5	426	0.0117	-20	c.-81 others(29): Show c.-817_-798delAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
IZUMO4_chr19_2091915_2104590	2102728	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	454	0.0022	-20	c.33 others(31): Show c.3384_*3403delAAATAAATAAATAAATAAAT	IZUMO4	ENSG00000099840.14	transcript	ENST00000395301.8	protein_coding		3139		chr19	TogoVar
JADE3_chrX_46907421_47066242	46911410	CACACACA others(13): Show CACACACACACATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00642.hp1 others(28): Show HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01081.hp1 HG01175.hp2 HG01361.hp1 HG01517.hp2 HG01952.hp1 HG02027.hp1 HG02071.hp1 HG02165.hp2 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03942.hp1 HG04204.hp1 NA18941.hp1 NA18943.hp1 NA18984.hp1 NA19005.hp1 NA19064.hp2 NA19065.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0021 a0001c0001t0023 a0001c0001t0029 a0002c0002t0001	a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0126 others(28): Show a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0251 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0250 a0001c0001t0003g0177 a0001c0001t0004g0176 a0001c0001t0021g0158 a0001c0001t0023g0213 a0001c0001t0029g0191 a0002c0002t0001g0190	31	258	0.1202	-20	c.-13 others(31): Show c.-1320_-1301delACACACACACATATATATAT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding		1010		chrX	TogoVar
JADE3_chrX_46907421_47066242	46926021	AATTTTAT others(13): Show AATTTTATTTTATTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(114): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01256.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03017.hp1 HG03492.hp1 HG03654.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18950.hp1 NA18952.hp1 NA18955.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18964.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp2 NA18977.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp1 NA19010.hp2 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19076.hp1 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19090.hp2 NA20752.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0016 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0042 others(114): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0127 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0207 a0001c0001t0001g0220 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0251 a0001c0001t0002g0024 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0139 a0001c0001t0002g0164 a0001c0001t0002g0184 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0214 a0001c0001t0002g0250 a0001c0001t0003g0007 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0131 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0159 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0165 a0001c0001t0003g0177 a0001c0001t0003g0195 a0001c0001t0003g0211 a0001c0001t0003g0219 a0001c0001t0003g0221 a0001c0001t0003g0234 a0001c0001t0003g0252 a0001c0001t0003g0256 a0001c0001t0003g0258 a0001c0001t0004g0176 a0001c0001t0004g0200 a0001c0001t0004g0201 a0001c0001t0004g0202 a0001c0001t0004g0223 a0001c0001t0007g0249 a0001c0001t0008g0149 a0001c0001t0008g0154 a0001c0001t0008g0212 a0001c0001t0008g0257 a0001c0001t0012g0166 a0001c0001t0012g0170 a0001c0001t0016g0067 a0001c0001t0021g0158 a0001c0001t0022g0132 a0001c0001t0023g0213 a0001c0001t0029g0191 a0001c0001t0031g0063 a0001c0001t0032g0045 a0001c0001t0033g0128 a0002c0002t0001g0190	117	258	0.4535	-20	c.-12 others(39): Show c.-12+13339_-12+13358delTTTTATTTTATTTTATTTTA	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	46972315	CTTCCTGA others(13): Show CTTCCTGAATAGCTGGGATTA	C C	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	258	0.0039	-20	c.-11 others(39): Show c.-11-12567_-11-12548delTCCTGAATAGCTGGGATTAT	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JADE3_chrX_46907421_47066242	47009265	TGAGCCAC others(13): Show TGAGCCACTGCAGGCTGCAGA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0091 a0001c0001t0005g0091	1	258	0.0039	-20	c.284 others(39): Show c.284+10992_284+11011delCCACTGCAGGCTGCAGAGAG	JADE3	ENSG00000102221.14	transcript	ENST00000614628.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
JAG1_chr20_10632684_10678999	10669547	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01070.hp1 HG01099.hp1 others(20): Show HG00621.hp1 HG01070.hp1 HG01099.hp1 HG01123.hp1 HG01255.hp1 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01943.hp1 HG02129.hp2 HG02273.hp1 HG03831.hp1 NA18943.hp2 NA18950.hp2 NA18965.hp2 NA18985.hp2 NA19000.hp1 NA19011.hp2 NA19063.hp1 NA19077.hp1 NA19091.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0014 a0001c0020 a0001c0021 others(10): Show a0001c0014 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0036 a0001c0037 a0001c0038 a0001c0039 a0001c0040 a0001c0041 a0001c0042 a0001c0043	a0001c0014t0005 a0001c0020t0003 a0001c0021t0002 others(11): Show a0001c0014t0005 a0001c0020t0003 a0001c0021t0002 a0001c0022t0002 a0001c0022t0008 a0001c0025t0002 a0001c0036t0002 a0001c0037t0005 a0001c0038t0002 a0001c0039t0005 a0001c0040t0006 a0001c0041t0002 a0001c0042t0005 a0001c0043t0002	a0001c0014t0005g0102 a0001c0014t0005g0103 a0001c0014t0005g0106 others(20): Show a0001c0014t0005g0102 a0001c0014t0005g0103 a0001c0014t0005g0106 a0001c0014t0005g0107 a0001c0020t0003g0023 a0001c0020t0003g0024 a0001c0020t0003g0025 a0001c0021t0002g0092 a0001c0021t0002g0093 a0001c0021t0002g0108 a0001c0022t0002g0101 a0001c0022t0008g0097 a0001c0022t0008g0098 a0001c0025t0002g0096 a0001c0025t0002g0104 a0001c0036t0002g0091 a0001c0037t0005g0100 a0001c0038t0002g0089 a0001c0039t0005g0105 a0001c0040t0006g0099 a0001c0041t0002g0090 a0001c0042t0005g0095 a0001c0043t0002g0094	23	412	0.0558	-20	c.387 others(37): Show c.387+3134_387+3153delTTTTTTTTTTTTTTTTTTTT	JAG1	ENSG00000101384.12	transcript	ENST00000254958.10	protein_coding	2/25			chr20	TogoVar
JAG2_chr14_105135995_105173776	105159886	CTCCATCC others(13): Show CTCCATCCACACCCCCCGAGT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0133 a0003c0006t0003g0133	1	364	0.0028	-20	c.418 others(37): Show c.418-2143_418-2124delACTCGGGGGGTGTGGATGGA	JAG2	ENSG00000184916.9	transcript	ENST00000331782.8	protein_coding	2/25			chr14	TogoVar
JAK1_chr1_64828229_64971549	64860415	CATGCATT others(13): Show CATGCATTTATTTATTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0268 a0001c0005t0001g0268	1	326	0.0031	-20	c.117 others(37): Show c.1177-173_1177-154delAAATAAATAAATAAATGCAT	JAK1	ENSG00000162434.14	transcript	ENST00000342505.5	protein_coding	8/24			chr1	TogoVar
JAK2_chr9_4980272_5134948	5005083	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG00673.hp2 others(20): Show HG00423.hp2 HG00639.hp1 HG00673.hp2 HG01099.hp1 HG01192.hp1 HG01346.hp2 HG01975.hp2 HG02027.hp1 HG02129.hp1 HG02135.hp2 HG02630.hp1 HG02922.hp1 HG03540.hp1 HG03704.hp1 HG03831.hp1 NA18947.hp2 NA18952.hp1 NA18959.hp2 NA18972.hp1 NA19000.hp2 NA19009.hp1 NA19012.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0019 a0003c0011 a0006c0020	a0001c0001t0002 a0001c0001t0038 a0001c0002t0001 others(9): Show a0001c0001t0002 a0001c0001t0038 a0001c0002t0001 a0001c0002t0010 a0001c0002t0018 a0001c0002t0033 a0001c0002t0034 a0001c0002t0049 a0001c0003t0022 a0001c0019t0001 a0003c0011t0001 a0006c0020t0025	a0001c0001t0002g0219 a0001c0001t0038g0255 a0001c0002t0001g0090 others(20): Show a0001c0001t0002g0219 a0001c0001t0038g0255 a0001c0002t0001g0090 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0134 a0001c0002t0001g0143 a0001c0002t0001g0146 a0001c0002t0001g0157 a0001c0002t0001g0273 a0001c0002t0010g0126 a0001c0002t0010g0272 a0001c0002t0018g0360 a0001c0002t0033g0129 a0001c0002t0034g0128 a0001c0002t0049g0292 a0001c0003t0022g0193 a0001c0019t0001g0132 a0003c0011t0001g0091 a0006c0020t0025g0123	23	364	0.0632	-20	c.-25 others(39): Show c.-25-16850_-25-16831delTTTTTTTTTTTTTTTTTTTT	JAK2	ENSG00000096968.14	transcript	ENST00000381652.4	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
JAK3_chr19_17819782_17852982	17827717	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00438.hp1 HG00735.hp1 others(9): Show HG00140.hp2 HG00438.hp1 HG00735.hp1 HG02074.hp2 HG02683.hp2 HG02738.hp1 HG03688.hp2 NA18952.hp2 NA18963.hp1 NA19000.hp2 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0086	a0001c0001t0001g0060 a0001c0001t0001g0128 a0001c0001t0002g0249 others(9): Show a0001c0001t0001g0060 a0001c0001t0001g0128 a0001c0001t0002g0249 a0001c0001t0003g0070 a0001c0001t0003g0105 a0001c0001t0003g0144 a0001c0001t0004g0277 a0001c0001t0004g0345 a0001c0001t0006g0044 a0001c0001t0009g0272 a0001c0001t0021g0156 a0001c0001t0086g0367	12	414	0.0290	-20	c.320 others(37): Show c.3208-827_3208-808delTTTTTTTTTTTTTTTTTTTT	JAK3	ENSG00000105639.21	transcript	ENST00000458235.7	protein_coding	23/23			chr19	TogoVar
JAKMIP1_chr4_6021199_6205549	6032660	CACAAAAC others(13): Show CACAAAACAAAACAAAACAAA	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02055.hp1 HG02976.hp2 others(4): Show HG01255.hp2 HG02055.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0001c0001t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0195 a0001c0001t0001g0203 others(4): Show a0001c0001t0001g0090 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0004g0224 a0001c0002t0001g0057 a0001c0002t0001g0144	7	233	0.0300	-20	c.238 others(39): Show c.2380-2899_2380-2880delTTTGTTTTGTTTTGTTTTGT	JAKMIP1	ENSG00000152969.21	transcript	ENST00000409021.9	protein_coding	19/20			chr4	TogoVar
JAKMIP2_chr5_147580438_147787728	147601601	TCAAAACA others(13): Show TCAAAACAAAACAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03579.hp1 HG00673.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0058 a0001c0003t0012 a0001c0002t0058 a0001c0003t0012	a0001c0002t0058g0090 a0001c0003t0012g0033 a0001c0002t0058g0090 a0001c0003t0012g0033	2	250	0.0080	-20	c.20 others(35): Show c.20+120_*20+139delTTTTGTTTTGTTTTGTTTTG	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	21/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147678959	TTTTATTT others(13): Show TTTTATTTATTTATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02258.hp1 HG02895.hp1 others(5): Show HG01934.hp1 HG02258.hp1 HG02895.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0002t0011 a0001c0002t0041 others(2): Show a0001c0002t0001 a0001c0002t0011 a0001c0002t0041 a0001c0002t0085 a0001c0005t0004	a0001c0002t0001g0005 a0001c0002t0001g0084 a0001c0002t0001g0085 others(5): Show a0001c0002t0001g0005 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0011g0087 a0001c0002t0011g0096 a0001c0002t0041g0039 a0001c0002t0085g0244 a0001c0005t0004g0162	8	250	0.0320	-20	c.-14 others(39): Show c.-148-7025_-148-7006delTAAATAAATAAATAAATAAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147684296	AACACACA others(13): Show AACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0006	1	250	0.0040	-20	c.-14 others(41): Show c.-148-12362_-148-12343delGTGTGTGTGTGTGTGTGTGT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702559	AGAAAGAA others(13): Show AGAAAGAAAGAAAGAAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0059 a0001c0001t0042g0059	1	250	0.0040	-20	c.-14 others(41): Show c.-148-30625_-148-30606delCTTCTTTCTTTCTTTCTTTC	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702603	GGAAAGAA others(13): Show GGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01517.hp2 HG02015.hp1 others(5): Show HG01257.hp1 HG01517.hp2 HG02015.hp1 HG02040.hp2 HG02976.hp2 HG03490.hp1 HG03492.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0013 a0001c0001t0028	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0049 others(5): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0049 a0001c0001t0002g0072 a0001c0001t0002g0139 a0001c0001t0009g0035 a0001c0001t0013g0178 a0001c0001t0028g0002	8	250	0.0320	-20	c.-14 others(41): Show c.-148-30669_-148-30650delTTTCTTTCTTTCTTTCTTTC	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702646	AAGAAAGA others(13): Show AAGAAAGAAAGAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02451.hp1 others(5): Show HG01884.hp2 HG01934.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp2 HG03041.hp2 HG03540.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0002t0033 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0033 a0001c0002t0049 a0001c0002t0050 a0001c0002t0085 a0001c0003t0001	a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0001g0089 others(5): Show a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0002t0001g0089 a0001c0002t0033g0088 a0001c0002t0049g0092 a0001c0002t0050g0093 a0001c0002t0085g0244 a0001c0003t0001g0091	8	250	0.0320	-20	c.-14 others(41): Show c.-148-30712_-148-30693delCTCTTTCTTTCTTTCTTTCT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147702652	GAAAGAAA others(13): Show GAAAGAAAGAAAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02145.hp2 HG03579.hp2 others(3): Show HG02015.hp2 HG02145.hp2 HG03579.hp2 HG04199.hp2 NA18906.hp1 NA18942.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0005 a0001c0008 others(2): Show a0001c0004 a0001c0005 a0001c0008 a0001c0018 a0002c0013	a0001c0004t0062 a0001c0005t0027 a0001c0008t0001 others(2): Show a0001c0004t0062 a0001c0005t0027 a0001c0008t0001 a0001c0018t0015 a0002c0013t0077	a0001c0004t0062g0042 a0001c0005t0027g0191 a0001c0005t0027g0193 others(3): Show a0001c0004t0062g0042 a0001c0005t0027g0191 a0001c0005t0027g0193 a0001c0008t0001g0161 a0001c0018t0015g0187 a0002c0013t0077g0204	6	250	0.0240	-20	c.-14 others(41): Show c.-148-30718_-148-30699delTTCTCTCTCTTTCTTTCTTT	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP2_chr5_147580438_147787728	147743999	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0091 a0001c0003t0001g0091	1	250	0.0040	-20	c.-14 others(41): Show c.-149+38437_-149+38456delGGAAGGAAGGAAGGAAGGAA	JAKMIP2	ENSG00000176049.16	transcript	ENST00000616793.5	protein_coding	1/21			chr5	TogoVar
JAKMIP3_chr10_132060946_132189858	132187349	CGGCCCTG others(13): Show CGGCCCTGCCGGGCCCTGCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG01255.hp2 others(16): Show HG00642.hp1 HG01109.hp2 HG01255.hp2 HG01361.hp1 HG01891.hp2 HG01981.hp2 HG02155.hp2 HG02280.hp2 HG02451.hp1 HG02615.hp2 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02897.hp2 HG03041.hp1 HG03654.hp1 HG04228.hp1 NA19043.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0013 a0001c0015 others(11): Show a0001c0001 a0001c0013 a0001c0015 a0001c0017 a0001c0032 a0002c0004 a0002c0005 a0002c0008 a0002c0016 a0002c0025 a0003c0003 a0003c0018 a0004c0035 a0004c0043	a0001c0001t0005 a0001c0001t0008 a0001c0013t0036 others(13): Show a0001c0001t0005 a0001c0001t0008 a0001c0013t0036 a0001c0015t0005 a0001c0017t0005 a0001c0032t0037 a0002c0004t0004 a0002c0005t0005 a0002c0005t0019 a0002c0008t0018 a0002c0016t0014 a0002c0025t0008 a0003c0003t0005 a0003c0018t0003 a0004c0035t0005 a0004c0043t0005	a0001c0001t0005g0137 a0001c0001t0008g0100 a0001c0001t0008g0142 others(16): Show a0001c0001t0005g0137 a0001c0001t0008g0100 a0001c0001t0008g0142 a0001c0013t0036g0005 a0001c0015t0005g0140 a0001c0017t0005g0079 a0001c0032t0037g0124 a0002c0004t0004g0038 a0002c0004t0004g0040 a0002c0005t0005g0130 a0002c0005t0019g0138 a0002c0008t0018g0120 a0002c0016t0014g0143 a0002c0016t0014g0144 a0002c0025t0008g0033 a0003c0003t0005g0072 a0003c0018t0003g0015 a0004c0035t0005g0020 a0004c0043t0005g0125	19	158	0.1203	-20	c.60 others(31): Show c.6097_*6116delGGCCCTGCCGGGCCCTGCCG	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		2492		chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132187364	CTGCCGGG others(13): Show CTGCCGGGCCCTGCCCGGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01109.hp1 HG01255.hp1 others(12): Show HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp1 HG01884.hp1 HG02451.hp2 HG02647.hp1 HG03017.hp1 HG03130.hp1 HG03540.hp1 HG03654.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0042 a0002c0005 others(7): Show a0001c0001 a0001c0042 a0002c0005 a0002c0016 a0002c0025 a0004c0024 a0004c0046 a0005c0012 a0005c0050 a0007c0049	a0001c0001t0006 a0001c0042t0023 a0002c0005t0011 others(9): Show a0001c0001t0006 a0001c0042t0023 a0002c0005t0011 a0002c0016t0006 a0002c0025t0032 a0004c0024t0006 a0004c0046t0007 a0005c0012t0007 a0005c0012t0011 a0005c0012t0033 a0005c0050t0034 a0007c0049t0011	a0001c0001t0006g0006 a0001c0042t0023g0126 a0002c0005t0011g0096 others(12): Show a0001c0001t0006g0006 a0001c0042t0023g0126 a0002c0005t0011g0096 a0002c0016t0006g0052 a0002c0016t0006g0099 a0002c0025t0032g0103 a0004c0024t0006g0148 a0004c0046t0007g0091 a0005c0012t0007g0047 a0005c0012t0007g0048 a0005c0012t0007g0050 a0005c0012t0011g0002 a0005c0012t0033g0046 a0005c0050t0034g0115 a0007c0049t0011g0036	15	158	0.0949	-20	c.61 others(31): Show c.6112_*6131delTGCCGGGCCCTGCCCGGCCT	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding		2507		chr10	TogoVar
JARID2_chr6_15241069_15527042	15332930	CTTTTCTT others(13): Show CTTTTCTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 NA18522.hp1 HG02895.hp1 HG02897.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0029 a0001c0001t0011g0026 a0001c0001t0011g0027 a0001c0001t0011g0029	3	284	0.0106	-20	c.46- others(37): Show c.46-41182_46-41163delCTTTTTTTTTTTTTTTTTTT	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JARID2_chr6_15241069_15527042	15404519	GCACACAC others(13): Show GCACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01071.hp1 HG01168.hp2 others(25): Show HG00741.hp2 HG01071.hp1 HG01168.hp2 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01978.hp1 HG01981.hp1 HG02109.hp1 HG02258.hp1 HG02451.hp1 HG02572.hp2 HG02886.hp2 HG03130.hp2 HG03139.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp2 NA18906.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18960.hp1 NA18964.hp1 NA18972.hp2 NA18973.hp1 NA18984.hp2 NA19084.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0008 a0001c0011 a0007c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0009 a0001c0002t0012 a0001c0003t0004 a0001c0007t0001 a0001c0007t0002 a0001c0007t0018 a0001c0008t0001 a0001c0011t0010 a0007c0013t0002	a0001c0001t0001g0084 a0001c0001t0001g0173 a0001c0001t0002g0002 others(25): Show a0001c0001t0001g0084 a0001c0001t0001g0173 a0001c0001t0002g0002 a0001c0001t0002g0057 a0001c0001t0002g0159 a0001c0001t0002g0216 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0006g0019 a0001c0001t0006g0152 a0001c0001t0009g0110 a0001c0001t0009g0111 a0001c0001t0009g0112 a0001c0002t0012g0207 a0001c0003t0004g0229 a0001c0007t0001g0120 a0001c0007t0001g0121 a0001c0007t0001g0218 a0001c0007t0002g0015 a0001c0007t0002g0017 a0001c0007t0018g0016 a0001c0007t0018g0021 a0001c0008t0001g0018 a0001c0011t0010g0023 a0007c0013t0002g0250	28	284	0.0986	-20	c.182 others(37): Show c.182-5670_182-5651delCACACACACACACACACACA	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JAZF1_chr7_27825577_28185795	27906861	TAATGAAC others(13): Show TAATGAACAAAACAAAGAAGC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	206	0.0049	-20	c.189 others(39): Show c.189-11465_189-11446delGCTTCTTTGTTTTGTTCATT	JAZF1	ENSG00000153814.13	transcript	ENST00000283928.10	protein_coding	2/4			chr7	TogoVar

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