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
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01168.hp1 HG01361.hp1 HG02145.hp1 others(1): Show HG01168.hp1 HG01361.hp1 HG02145.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0011 a0001c0001t0011 a0001c0002t0011	a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 others(1): Show a0001c0001t0011g0027 a0001c0001t0011g0032 a0001c0001t0011g0161 a0001c0002t0011g0165	4	206	0.0194	32	c.45 others(43): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TTCTCTCT others(25): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0141 a0001c0001t0034g0141	1	206	0.0049	32	c.283 others(51): Show c.283-29132_283-29101dupGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGA	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54235448	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0133 a0001c0001t0024g0133	1	280	0.0036	32	c.927 others(49): Show c.927+3680_927+3681insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	14/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0043 a0001c0001t0024g0043	1	280	0.0036	32	c.277 others(51): Show c.277-17404_277-17403insGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATGT others(25): Show ATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG02083.hp1 HG00280.hp2 HG02071.hp2 HG02083.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0002 a0001c0005t0001 a0001c0005t0002	a0001c0005t0001g0295 a0001c0005t0002g0041 a0001c0005t0001g0295 a0001c0005t0002g0041	3	388	0.0077	32	c.-66 others(47): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18945.hp2 others(1): Show HG02895.hp1 HG02897.hp2 NA18945.hp2 NA18971.hp2	a0006 a0022 a0051 a0006 a0022 a0051	a0006c0040 a0022c0038 a0051c0052 a0006c0040 a0022c0038 a0051c0052	a0006c0040t0001 a0022c0038t0001 a0051c0052t0001 a0006c0040t0001 a0022c0038t0001 a0051c0052t0001	a0006c0040t0001g0292 a0022c0038t0001g0392 a0022c0038t0001g0393 others(1): Show a0006c0040t0001g0292 a0022c0038t0001g0392 a0022c0038t0001g0393 a0051c0052t0001g0145	4	412	0.0097	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATATATATTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0120 a0001c0013t0001g0120	1	412	0.0024	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATATTTTTTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA19082.hp2 NA18966.hp1 NA19082.hp2	a0001 a0004 a0001 a0004	a0001c0013 a0004c0056 a0001c0013 a0004c0056	a0001c0013t0001 a0004c0056t0001 a0001c0013t0001 a0004c0056t0001	a0001c0013t0001g0133 a0004c0056t0001g0110 a0001c0013t0001g0133 a0004c0056t0001g0110	2	412	0.0049	32	c.138 others(49): Show c.1387+451_1387+452insATATATATATATATATATATTTTTTTTT TTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAATTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	232	0.0043	32	c.63+ others(49): Show c.63+16590_63+16591insATATATATATATATATAATTTTTTTTTT TTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSPN_chr12_26190573_26239777	26201046	T T	TATATATT others(25): Show TATATATTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0181 a0001c0001t0030g0181	1	384	0.0026	32	c.279 others(49): Show c.279+5095_279+5096insATATATTATATATATATATATATATATA TATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2			chr12	TogoVar
SSTR2_chr17_73160010_73181633	73163455	G G	GGGCAGAG others(25): Show GGGCAGAGTGGGCACTTCCTGGCTCTTCCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0109 a0001c0001t0023g0109	1	454	0.0022	32	c.-19 others(43): Show c.-1926_-1925insGGCAGAGTGGGCACTTCCTGGCTCTTCCTTCT	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding		1554		chr17	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(25): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02976.hp2 others(1): Show HG02055.hp1 HG02630.hp1 HG02976.hp2 NA18940.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0194 others(1): Show a0001c0001t0001g0181 a0001c0001t0001g0193 a0001c0001t0001g0194 a0002c0002t0001g0190	4	344	0.0116	32	c.58 others(43): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133540924	T T	TATATAGA others(25): Show TATATAGACATATATATAGACATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02004.hp2 NA19004.hp1 NA19057.hp1 others(1): Show HG02004.hp2 NA19004.hp1 NA19057.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0103 a0001c0002t0002g0034 a0001c0002t0002g0099 others(1): Show a0001c0001t0001g0103 a0001c0002t0002g0034 a0001c0002t0002g0099 a0001c0002t0002g0251	4	332	0.0121	32	c.-42 others(51): Show c.-429+4849_-429+4850insGTCTATATATATGTCTATATATATGT CTATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540946	T T	TATATATA others(25): Show TATATATAGACATATATAGACATATATATAGAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	332	0.0030	32	c.-42 others(51): Show c.-429+4827_-429+4828insGTCTATATATATGTCTATATATGTCT ATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(25): Show TATATATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	332	0.0030	32	c.-42 others(51): Show c.-429+4653_-429+4654insCTCTCTCTCTCTCTCTCTCTCTCTAT ATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70425891	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0196 a0001c0001t0030g0196	1	312	0.0032	32	c.-10 others(55): Show c.-1004+13057_-1004+13058insTATAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43857582	C C	CCCTTCCT others(25): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	274	0.0037	32	c.302 others(51): Show c.302+19274_302+19275insTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43917443	A A	AATATATA others(25): Show AATATATAATATATAATATATATAATATATAAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	274	0.0037	32	c.745 others(49): Show c.745-2931_745-2900dupAATATATATAATATATAATATATATAAT ATAT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL4_chr11_126350686_126419638	126359729	C C	CTCCCTCC others(25): Show CTCCCTCCTTCCCTCCTTCCCTCCTTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	324	0.0031	32	c.-61 others(49): Show c.-61+3892_-61+3923dupTCCTTCCCTCCTTCCCTCCTTCCCTCCT TCCC	ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	186984740	T T	TTCCTTCC others(25): Show TTCCTTCCTCCCTTCCTTCCTTCCTTCCCTCCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0022 a0001c0001t0032g0022	1	362	0.0028	32	c.-18 others(53): Show c.-183+20817_-183+20818insTTCCTCCCTTCCTTCCTTCCTTCC CTCCCTCC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GALNAC1_chr17_76619763_76648757	76648235	C C	CCTATATA others(25): Show CCTATATAAATCGAAGGATACCTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0140 a0004c0004t0001g0140	1	412	0.0024	32	c.-45 others(43): Show c.-4598_-4597insAAAAAAAAAAAGGTATCCTTCGATTTATATAG	ST6GALNAC1	ENSG00000070526.15	transcript	ENST00000156626.12	protein_coding		4479		chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(25): Show ATATATATATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0173 a0002c0003t0014g0173	1	202	0.0050	32	c.75 others(43): Show c.7568_*7569insTATATATATATATATATATATATATATTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7_chr7_116948501_117235176	117027463	A A	AAAAGTAA others(25): Show AAAAGTAAAAGTAAAAGTAAAGTAAAGTAAAGT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	188	0.0053	32	c.152 others(51): Show c.152-72291_152-72290insAGTAAAAGTAAAGTAAAGTAAAGTAA AGTAAA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22218612	A A	AAAATAAA others(25): Show AAAATAAATAAATAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp2 HG02896.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0111 a0001c0001t0017 a0001c0001t0111	a0001c0001t0017g0042 a0001c0001t0111g0060 a0001c0001t0017g0042 a0001c0001t0111g0060	2	282	0.0071	32	c.585 others(51): Show c.585-16575_585-16574insATTTATTTATTTATTTATTTATTTAT TTATTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	4/4			chr12	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(66): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01123.hp2 HG01167.hp1 HG01255.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01928.hp2 HG01978.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 NA18939.hp1 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18960.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA19004.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0058 a0001c0001t0060 a0001c0001t0062 a0001c0001t0063 a0001c0001t0084 a0001c0001t0088 a0001c0001t0099 a0001c0001t0100 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0109 a0001c0001t0110 a0001c0001t0114 a0001c0001t0123 a0001c0002t0005 a0002c0004t0040	a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0136 others(66): Show a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0136 a0001c0001t0001g0180 a0001c0001t0001g0230 a0001c0001t0001g0242 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0140 a0001c0001t0002g0161 a0001c0001t0002g0199 a0001c0001t0003g0130 a0001c0001t0003g0172 a0001c0001t0003g0214 a0001c0001t0003g0234 a0001c0001t0004g0295 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0332 a0001c0001t0004g0348 a0001c0001t0005g0047 a0001c0001t0005g0111 a0001c0001t0005g0129 a0001c0001t0005g0159 a0001c0001t0006g0042 a0001c0001t0006g0058 a0001c0001t0006g0081 a0001c0001t0007g0299 a0001c0001t0007g0300 a0001c0001t0007g0302 a0001c0001t0008g0298 a0001c0001t0009g0308 a0001c0001t0009g0314 a0001c0001t0012g0120 a0001c0001t0013g0278 a0001c0001t0014g0021 a0001c0001t0014g0028 a0001c0001t0015g0203 a0001c0001t0016g0035 a0001c0001t0020g0183 a0001c0001t0022g0338 a0001c0001t0022g0339 a0001c0001t0026g0162 a0001c0001t0031g0155 a0001c0001t0033g0105 a0001c0001t0033g0106 a0001c0001t0034g0176 a0001c0001t0038g0264 a0001c0001t0042g0343 a0001c0001t0043g0297 a0001c0001t0044g0275 a0001c0001t0058g0249 a0001c0001t0060g0092 a0001c0001t0062g0215 a0001c0001t0063g0070 a0001c0001t0084g0090 a0001c0001t0088g0110 a0001c0001t0099g0256 a0001c0001t0100g0261 a0001c0001t0102g0259 a0001c0001t0103g0260 a0001c0001t0104g0258 a0001c0001t0109g0271 a0001c0001t0110g0270 a0001c0001t0114g0329 a0001c0001t0123g0359 a0001c0002t0005g0185 a0002c0004t0040g0274	69	362	0.1906	32	c.132 others(51): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46719704	T T	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02647.hp1 HG02895.hp2 others(10): Show HG00735.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG04115.hp2 HG04204.hp2 NA18939.hp2 NA18945.hp1 NA18953.hp1 NA18964.hp2 NA18975.hp1 NA18993.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0017 a0001c0001t0066 a0001c0001t0067	a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0063 others(9): Show a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0001t0001g0226 a0001c0001t0002g0022 a0001c0001t0004g0334 a0001c0001t0017g0001 a0001c0001t0017g0057 a0001c0001t0066g0015 a0001c0001t0067g0014	13	362	0.0359	32	c.132 others(51): Show c.132-15041_132-15040insGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333715	A A	AGATATAT others(25): Show AGATATATATATATAGATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19043.hp1 HG02451.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0262 a0001c0001t0003g0254 a0001c0001t0003g0262	2	296	0.0068	32	c.378 others(49): Show c.378-2164_378-2163insAAAATATATATATATATCTATATATATA TATC	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0037 a0001c0001t0005g0037	1	296	0.0034	32	c.377 others(51): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01069.hp2 HG01071.hp1 others(10): Show HG00621.hp1 HG01069.hp2 HG01071.hp1 HG01978.hp1 HG02602.hp1 HG02965.hp2 HG03471.hp2 HG04228.hp1 NA18942.hp1 NA18942.hp2 NA18953.hp1 NA18984.hp1 NA19000.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0036 a0004c0004t0004	a0001c0001t0001g0063 a0001c0001t0001g0117 a0001c0001t0001g0171 others(10): Show a0001c0001t0001g0063 a0001c0001t0001g0117 a0001c0001t0001g0171 a0001c0001t0001g0189 a0001c0001t0001g0235 a0001c0001t0002g0156 a0001c0001t0002g0240 a0001c0001t0004g0125 a0001c0001t0007g0032 a0001c0001t0007g0046 a0001c0001t0036g0192 a0004c0004t0004g0120 a0004c0004t0004g0122	13	296	0.0439	32	c.291 others(51): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	316	0.0032	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAAAAAATATATATATATATATA TATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(25): Show AAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	316	0.0032	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAAAATATATATATATATATATA TATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18979.hp2 HG01168.hp2 HG01169.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0002t0003g0011 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0002t0003g0011	3	316	0.0095	32	c.688 others(49): Show c.688-1119_688-1118insAAAAAAAATATATATATATATATATATA TATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02572.hp1 others(1): Show HG01243.hp1 HG02258.hp2 HG02572.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0008 a0002c0003t0011 a0002c0003t0002 a0002c0003t0008 a0002c0003t0011	a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0008g0150 others(1): Show a0002c0003t0002g0140 a0002c0003t0002g0141 a0002c0003t0008g0150 a0002c0003t0011g0153	4	240	0.0167	32	c.902 others(49): Show c.902+1989_902+1990insGTGTGTGTGTATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	240	0.0042	32	c.902 others(49): Show c.902+1989_902+1990insGTGTGTGTATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	240	0.0083	32	c.902 others(49): Show c.902+1989_902+1990insGTGTATATATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	240	0.0042	32	c.902 others(49): Show c.902+1989_902+1990insGTATATATATATATATATATATATATAT ATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136541538	T T	TCACACAC others(25): Show TCACACACACACACACACTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG04115.hp1 HG03834.hp1 HG04115.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0162 a0001c0002t0002g0164	2	240	0.0083	32	c.471 others(47): Show c.471+580_471+581insTGTGTGTGTGTGTGAGTGTGTGTGTGTGTG TG	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	6/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136565011	A A	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGCAGGCAGGCAGGCAGGC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG03195.hp1 HG01884.hp2 HG02280.hp2 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0002 a0001c0002t0002 a0002c0003t0002	a0001c0002t0002g0187 a0002c0003t0002g0146 a0002c0003t0002g0147 a0001c0002t0002g0187 a0002c0003t0002g0146 a0002c0003t0002g0147	3	240	0.0125	32	c.394 others(49): Show c.394+3753_394+3754insGCCTGCCTGCCTGCCTGCCTTCCTTCCT TCCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	5/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG01517.hp1 others(6): Show HG00408.hp2 HG00609.hp1 HG01517.hp1 HG01928.hp1 HG02148.hp2 HG02738.hp2 HG03239.hp1 HG04199.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0046	a0001c0001t0003g0184 a0001c0001t0003g0233 a0001c0001t0003g0249 others(6): Show a0001c0001t0003g0184 a0001c0001t0003g0233 a0001c0001t0003g0249 a0001c0001t0004g0208 a0001c0001t0017g0221 a0001c0001t0021g0234 a0001c0001t0021g0245 a0001c0001t0022g0207 a0001c0001t0046g0246	9	360	0.0250	32	c.41- others(47): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT AT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAM2_chr2_152111801_152180763	152159110	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0043 a0001c0001t0009g0043	1	360	0.0028	32	c.41- others(47): Show c.41-8882_41-8881insGTATATATATATATATATATATATATATAT AT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STAMBP_chr2_73823961_73872168	73832108	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA19001.hp1 HG02273.hp2 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0024 a0001c0002t0003 a0001c0002t0024	a0001c0002t0003g0059 a0001c0002t0024g0058 a0001c0002t0003g0059 a0001c0002t0024g0058	2	368	0.0054	32	c.203 others(49): Show c.203+1050_203+1051insTATATATATATATATATATATATATATA TACA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STARD3NL_chr7_38173245_38235669	38197136	T T	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA18983.hp1 NA19078.hp2 HG02965.hp2 NA18983.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0236 a0001c0001t0004g0152 a0001c0001t0004g0192 a0001c0001t0002g0236 a0001c0001t0004g0152 a0001c0001t0004g0192	3	404	0.0074	32	c.-58 others(51): Show c.-58-10283_-58-10252dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	STARD3NL	ENSG00000010270.14	transcript	ENST00000009041.12	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
STAT2_chr12_56336597_56365107	56345522	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18968.hp1 HG02723.hp1 NA18968.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0001 a0001c0001t0013 a0002c0002t0001	a0001c0001t0013g0168 a0002c0002t0001g0039 a0001c0001t0013g0168 a0002c0002t0001g0039	2	268	0.0075	32	c.210 others(49): Show c.2102+623_2102+624insATATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(25): Show AAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	268	0.0037	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATTTTT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAAAA others(25): Show AAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	268	0.0037	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATTT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(25): Show AAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	268	0.0037	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT TTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG03492.hp1 HG03831.hp2 others(1): Show HG01517.hp2 HG03492.hp1 HG03831.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0151 a0001c0001t0001g0155 others(1): Show a0001c0001t0001g0104 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0227	4	268	0.0149	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18945.hp1 NA18971.hp1 others(1): Show HG03041.hp2 NA18945.hp1 NA18971.hp1 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0092 a0001c0001t0001g0203 a0001c0001t0001g0220 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0203 a0001c0001t0001g0220 a0002c0002t0001g0034	4	268	0.0149	32	c.210 others(49): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345536	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATGC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	268	0.0037	32	c.210 others(49): Show c.2102+609_2102+610insGCATATATATATATATATATATATATAT ATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354012	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	268	0.0037	32	c.782 others(47): Show c.782+453_782+454insATATATATATATATATATATATATATATAT AT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar

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