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
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG03942.hp2 HG04184.hp1 others(2): Show HG02698.hp2 HG03942.hp2 HG04184.hp1 NA18966.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0307 others(2): Show a0001c0001t0001g0215 a0001c0001t0001g0266 a0001c0001t0001g0307 a0001c0001t0001g0340 a0001c0001t0002g0025	5	402	0.0124	27	c.26 others(38): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar
SDHC_chr1_161309381_161368206	161339662	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	330	0.0030	27	c.180 others(42): Show c.180-930_180-904dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHC	ENSG00000143252.16	transcript	ENST00000367975.7	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3299677	A A	AGCTGCTG others(20): Show AGCTGCTGCTGCTGCTGCTGCTGCTGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01361.hp2 others(18): Show HG01109.hp1 HG01243.hp1 HG01361.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03098.hp2 HG03195.hp1 HG03491.hp2 HG03540.hp2 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0026 a0028 a0029 a0031	a0001c0002 a0001c0008 a0001c0011 others(16): Show a0001c0002 a0001c0008 a0001c0011 a0001c0014 a0001c0036 a0001c0049 a0001c0060 a0002c0030 a0002c0041 a0002c0043 a0003c0047 a0004c0058 a0004c0065 a0006c0006 a0008c0015 a0026c0069 a0028c0052 a0029c0063 a0031c0074	a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 others(16): Show a0001c0002t0040 a0001c0008t0007 a0001c0011t0039 a0001c0014t0018 a0001c0036t0033 a0001c0049t0036 a0001c0060t0041 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0003c0047t0038 a0004c0058t0012 a0004c0065t0037 a0006c0006t0012 a0008c0015t0017 a0026c0069t0069 a0028c0052t0032 a0029c0063t0007 a0031c0074t0042	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 others(18): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0011t0039g0061 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0036t0033g0116 a0001c0049t0036g0109 a0001c0060t0041g0080 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0003c0047t0038g0082 a0004c0058t0012g0063 a0004c0065t0037g0065 a0006c0006t0012g0115 a0008c0015t0017g0059 a0008c0015t0017g0066 a0026c0069t0069g0064 a0028c0052t0032g0107 a0029c0063t0007g0106 a0031c0074t0042g0081	21	116	0.1810	27	c.-19 others(38): Show c.-1910_-1909insGCTGCTGCTGCTGCTGCTGCTGCTGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding		1574		chr7	TogoVar
SDK1_chr7_3296252_4274000	3403855	A A	ATATTATA others(20): Show ATATTATATATATAATATATATATATTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0012 a0012	a0012c0086 a0012c0086	a0012c0086t0046 a0012c0086t0046	a0012c0086t0046g0012 a0012c0086t0046g0012	1	116	0.0086	27	c.298 others(48): Show c.298+101974_298+101975insTATATATATAATATATATATATTG TAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4263723	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0003 a0003	a0003c0047 a0003c0047	a0003c0047t0038 a0003c0047t0038	a0003c0047t0038g0082 a0003c0047t0038g0082	1	116	0.0086	27	c.638 others(46): Show c.6382-1401_6382-1400insGGGAGGCCACGTAGACCTCTCCTGAG T	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4263921	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00738.hp1 others(2): Show HG00558.hp2 HG00639.hp1 HG00738.hp1 HG01175.hp2 HG03209.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0001c0048 a0002c0054 others(2): Show a0001c0010 a0001c0048 a0002c0054 a0003c0001 a0003c0033	a0001c0010t0002 a0001c0048t0001 a0002c0054t0002 others(2): Show a0001c0010t0002 a0001c0048t0001 a0002c0054t0002 a0003c0001t0063 a0003c0033t0002	a0001c0010t0002g0085 a0001c0048t0001g0029 a0002c0054t0002g0101 others(2): Show a0001c0010t0002g0085 a0001c0048t0001g0029 a0002c0054t0002g0101 a0003c0001t0063g0032 a0003c0033t0002g0103	5	116	0.0431	27	c.638 others(46): Show c.6382-1203_6382-1202insGGGAGGCCACGTAGACCTCTCCTGAG T	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4264207	G G	GGGGAGGC others(20): Show GGGGAGGCCACGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0032 a0032	a0032c0075 a0032c0075	a0032c0075t0008 a0032c0075t0008	a0032c0075t0008g0016 a0032c0075t0008g0016	1	116	0.0086	27	c.638 others(44): Show c.6382-914_6382-913insAGGCCACGTAGACCTCTCCTGAGTGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4264207	G G	GGGGAGGC others(20): Show GGGGAGGCCGCGTAGACCTCTCCTGAGT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0017 a0017	a0017c0024 a0017c0024	a0017c0024t0061 a0017c0024t0061	a0017c0024t0061g0013 a0017c0024t0061g0013	1	116	0.0086	27	c.638 others(44): Show c.6382-914_6382-913insAGGCCGCGTAGACCTCTCCTGAGTGGG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73355174	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0051 a0001c0003t0051	a0001c0003t0051g0046 a0001c0003t0051g0046	1	204	0.0049	27	c.559 others(46): Show c.5594-2538_5594-2537insAAAAATATATATATATATATATATAT A	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01074.hp2 HG01167.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0068 a0002c0030t0072 a0001c0001t0068 a0002c0030t0072	a0001c0001t0068g0012 a0002c0030t0072g0095 a0001c0001t0068g0012 a0002c0030t0072g0095	2	204	0.0098	27	c.559 others(46): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA T	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	204	0.0049	27	c.158 others(46): Show c.1584-2143_1584-2117dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03130.hp2 others(7): Show HG02647.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG04184.hp2 HG04228.hp2 NA19007.hp2 NA19043.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0016	a0001c0003 a0001c0006 a0001c0010 others(5): Show a0001c0003 a0001c0006 a0001c0010 a0001c0015 a0001c0053 a0003c0009 a0007c0050 a0016c0058	a0001c0003t0011 a0001c0006t0014 a0001c0010t0006 others(7): Show a0001c0003t0011 a0001c0006t0014 a0001c0010t0006 a0001c0010t0008 a0001c0010t0043 a0001c0015t0004 a0001c0053t0022 a0003c0009t0003 a0007c0050t0027 a0016c0058t0067	a0001c0003t0011g0067 a0001c0006t0014g0201 a0001c0010t0006g0053 others(7): Show a0001c0003t0011g0067 a0001c0006t0014g0201 a0001c0010t0006g0053 a0001c0010t0008g0058 a0001c0010t0043g0069 a0001c0015t0004g0150 a0001c0053t0022g0039 a0003c0009t0003g0083 a0007c0050t0027g0172 a0016c0058t0067g0161	10	204	0.0490	27	c.65- others(42): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113432265	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	298	0.0034	27	c.355 others(44): Show c.355-1847_355-1846insTTTTCTTCTTTCTTTCTTTCTTTCTTT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CGTTTTTT others(20): Show CGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0306 a0001c0001t0008g0306	1	318	0.0031	27	c.226 others(46): Show c.2266+1244_2266+1245insGTTTTTTTTTTTTTTTTTTTTTTTTT T	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22			chr5	TogoVar
SEC24B_chr4_109428815_109545896	109439474	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	222	0.0045	27	c.133 others(44): Show c.133+5491_133+5517dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	406	0.0025	27	c.-18 others(38): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SECISBP2L_chr15_48983638_49051446	49010154	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp2 HG03831.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0203 a0002c0002t0004g0157 a0002c0002t0002g0203 a0002c0002t0004g0157	2	378	0.0053	27	c.186 others(44): Show c.1865-777_1865-776insTGTGTGTGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG02257.hp1 others(7): Show HG00099.hp1 HG00423.hp1 HG02257.hp1 HG02523.hp2 HG02622.hp2 HG03041.hp2 HG03669.hp1 HG04184.hp1 NA18959.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0080 a0001c0001t0001g0126 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0296 a0001c0001t0002g0005 a0001c0001t0005g0304 a0001c0003t0001g0083	10	324	0.0309	27	c.11 others(38): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG03834.hp1 NA18943.hp1 others(4): Show HG02132.hp1 HG03834.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0192 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0069	7	324	0.0216	27	c.11 others(38): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	324	0.0031	27	c.11 others(38): Show c.1165_*1166insTCTTCTTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(20): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0167 a0002c0002t0003g0167	1	324	0.0031	27	c.11 others(38): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13906604	T T	TAAAAATA others(20): Show TAAAAATAATTTTTTTTTCTGTATTAGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18951.hp2 HG02132.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0024 a0001c0001t0002g0028	2	324	0.0062	27	c.549 others(44): Show c.549+7151_549+7177dupGCTAATACAGAAAAAAAAATTATTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 NA20805.hp1 HG02109.hp1 HG02258.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0123	3	324	0.0093	27	c.115 others(44): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp2 HG02293.hp1 others(13): Show HG00673.hp2 HG01496.hp2 HG02293.hp1 HG04228.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18966.hp1 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18999.hp1 NA19054.hp1 NA19083.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0013t0002 a0002c0002t0004 others(1): Show a0001c0001t0002 a0001c0013t0002 a0002c0002t0004 a0003c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 others(13): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0013t0002g0057 a0002c0002t0004g0014 a0003c0005t0002g0007	16	324	0.0494	27	c.115 others(44): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13944869	A A	AAGGGAGA others(20): Show AAGGGAGAAAATATGAAACAGTGATCTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	324	0.0031	27	c.114 others(46): Show c.114+11206_114+11207insAAGATCACTGTTTCATATTTTCTCCC T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	324	0.0031	27	c.58+ others(42): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01074.hp1 others(57): Show HG00099.hp2 HG00639.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp2 NA18979.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19079.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0031 others(33): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0002t0001g0099 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0005t0001g0140 a0002c0003t0001g0084 a0002c0003t0001g0120	60	438	0.1370	27	c.482 others(42): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02040.hp2 HG00423.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0197 a0001c0001t0002g0199	2	380	0.0053	27	c.35 others(38): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	390	0.0026	27	c.665 others(42): Show c.665-417_665-416insTAATAATAATAATAATAATAATAATAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3E_chr7_83358238_83654139	83454272	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp1 HG02451.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0113 a0001c0001t0029g0172 a0001c0001t0029g0113 a0001c0001t0029g0172	2	226	0.0089	27	c.456 others(46): Show c.456+12209_456+12210insATATATATATATATATATATATTTTT T	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9341674	T T	TATATATA others(20): Show TATATATATATAATATATATAATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0063 a0001c0007t0003g0063	1	134	0.0075	27	c.125 others(44): Show c.125-3863_125-3862insTATATATTATATATATTATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(20): Show AAGGAAAGGAAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0125 a0001c0010t0076g0125	1	134	0.0075	27	c.125 others(46): Show c.125-15285_125-15284insCTTCCCTTCCCTTCCCTTTCCTTTCC T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(20): Show GAAAGGAAAGGAAAGGAAAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	134	0.0075	27	c.125 others(46): Show c.125-15287_125-15286insTCCCTTTCCTTTCCTTTCCTTTCCTT T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353100	A A	AAGGAAAG others(20): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0106 a0001c0001t0066g0106	1	134	0.0075	27	c.125 others(46): Show c.125-15289_125-15288insCTTTCCTTTCCTTTCCTTTCCTTTCC T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122917829	G G	GATCAATG others(20): Show GATCAATGGTTTGATTTGAGGGTGTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02572.hp2 others(3): Show HG00735.hp1 HG01884.hp2 HG02572.hp2 HG02647.hp1 HG02965.hp1 HG03139.hp2	a0006 a0011 a0006 a0011	a0006c0009 a0011c0017 a0006c0009 a0011c0017	a0006c0009t0003 a0006c0009t0017 a0011c0017t0016 a0006c0009t0003 a0006c0009t0017 a0011c0017t0016	a0006c0009t0003g0023 a0006c0009t0003g0039 a0006c0009t0003g0045 others(3): Show a0006c0009t0003g0023 a0006c0009t0003g0039 a0006c0009t0003g0045 a0006c0009t0017g0014 a0011c0017t0016g0011 a0011c0017t0016g0012	6	290	0.0207	27	c.168 others(46): Show c.1689-1966_1689-1940dupAAAACACCCTCAAATCAAACCATTGA T	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	12/22			chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(20): Show TCTCCCTCCCTCCCCCTCCCCCCTCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0105 a0002c0002t0105	a0002c0002t0105g0238 a0002c0002t0105g0238	1	360	0.0028	27	c.16 others(38): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCCTCCCCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0034 a0001c0001t0057g0034	1	306	0.0033	27	c.188 others(46): Show c.1885-8827_1885-8826insATATATATATATATATATATATATAT A	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0294 a0003c0007t0006g0294	1	362	0.0028	27	c.43 others(38): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATATTAT others(20): Show TATATTATATTTATATTATATATAATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG03471.hp2 HG01884.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0299 a0001c0001t0016g0049 a0001c0001t0016g0299	3	408	0.0074	27	c.594 others(43): Show c.594+999_594+1000insATATAATACATATTATATTTATATTAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TTATATTT others(20): Show TTATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	408	0.0025	27	c.594 others(42): Show c.594+981_594+982insTATATTTATATTATTTATATATAATAC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12			chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338820	T T	TTTATATA others(20): Show TTTATATATAATATATATTATATTTATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02559.hp1 HG02572.hp1 others(2): Show HG01261.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0037 a0001c0001t0006g0194 a0001c0001t0006g0195 others(1): Show a0001c0001t0006g0037 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0024g0193	5	408	0.0123	27	c.594 others(44): Show c.594+1047_594+1048insTATATTTATATTATATATAATATATAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77484979	G G	GTGGTGAT others(20): Show GTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	150	0.0067	27	c.914 others(44): Show c.914-2428_914-2427insAAGGGGGTGATGGTGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484979	G G	GTGGTGAT others(20): Show GTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	158	0.0063	27	c.860 others(44): Show c.860-2428_860-2427insAAGGGGGTGATGGTGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0022 a0001c0001t0015g0022	1	368	0.0027	27	c.92 others(38): Show c.9279_*9280insATATATATATTTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0022 a0001c0001t0015g0022	1	368	0.0027	27	c.92 others(38): Show c.9279_*9280insATATATATATATATTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01258.hp1 others(1): Show HG01099.hp2 HG01257.hp2 HG01258.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0049 a0001c0001t0022 a0001c0001t0049	a0001c0001t0022g0019 a0001c0001t0049g0072 a0001c0001t0022g0019 a0001c0001t0049g0072	4	368	0.0109	27	c.92 others(38): Show c.9279_*9280insATATATATATATATATATTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896590	A A	AGGGAAGG others(20): Show AGGGAAGGGAAGGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	226	0.0044	27	c.101 others(48): Show c.1012-18347_1012-18346insCTTCCCTTCCCTTCCCCTTCCCTT CCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896623	G G	GGGAAGGG others(20): Show GGGAAGGGGAAGGGAAGGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02280.hp2 HG02572.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0002 a0006c0007t0001 a0006c0007t0002	a0006c0007t0001g0101 a0006c0007t0002g0147 a0006c0007t0001g0101 a0006c0007t0002g0147	2	226	0.0089	27	c.101 others(48): Show c.1012-18380_1012-18379insTTCCCCTTCCCCTTCCCTTCCCCT TCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42562526	A A	AGGGGAGG others(20): Show AGGGGAGGGCTCGTGGAGGACGCAGAGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19003.hp1 NA18988.hp2 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0342 a0002c0002t0001g0344 a0002c0002t0001g0342 a0002c0002t0001g0344	2	432	0.0046	27	c.613 others(44): Show c.613+2271_613+2297dupTCGTGGAGGACGCAGAGTGGGGAGGGC	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20752.hp1 HG00099.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0074 a0001c0001t0002g0079	2	366	0.0055	27	c.760 others(40): Show c.760-23_760-22insATATATATATATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar

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