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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SRP68_chr17_76033785_76077517	76062615	A A	ATATACAT others(14): Show ATATACATTATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	365	0.0027	21	c.562 others(38): Show c.562-1042_562-1041insATATATAATATATAATGTATA		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15						chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02040.hp2 HG02630.hp1 others(2): Show HG01070.hp1 HG02040.hp2 HG02630.hp1 NA18939.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0021 a0001c0004t0003 a0001c0001t0021 a0001c0004t0003	a0001c0001t0021g0168 a0001c0004t0003g0193 a0001c0004t0003g0196 others(2): Show a0001c0001t0021g0168 a0001c0004t0003g0193 a0001c0004t0003g0196 a0001c0004t0003g0210 a0001c0004t0003g0211	5	388	0.0129	21	c.958 others(36): Show c.958-705_958-685dupTTTTTTTTTTTTTTTTTTTTT		SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02809.hp1 HG02896.hp1 others(3): Show HG02622.hp1 HG02809.hp1 HG02896.hp1 HG03831.hp2 NA18947.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0334 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0073 a0001c0001t0001g0334 a0001c0001t0003g0031	6	342	0.0175	21	c.478 others(38): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTTTTT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	282	0.0036	21	c.621 others(38): Show c.621+1038_621+1058dupTTTTTTTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15						chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	318	0.0031	21	c.164 others(38): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTT		SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10					INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRD_chr22_26478877_26499658	26483980	G G	GGAGGCGG others(14): Show GGAGGCGGCGCCCCGGGGGAGA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0021 a0008c0007t0021	a0008c0007t0021g0114 a0008c0007t0021g0114	1	448	0.0022	21	c.129 others(28): Show c.129_149dupGAGAGAGGCGGCGCCCCGGGG	p.Gly others(32): Show p.Gly50_Pro51insArgGluAlaAlaProArgGly	SRRD	ENSG00000100104.13	transcript	ENST00000215917.11	protein_coding	1/7	164/4020	150/1020	50/339		INFO_REALIGN_3_PRIME	chr22	TogoVar
SRRM1_chr1_24638302_24678281	24652029	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0279 a0001c0001t0007g0279	1	352	0.0028	21	c.726 others(36): Show c.726-405_726-404insTATATATATATATATATATAT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding	6/16						chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTAT others(14): Show ATTTTTATTTTTTTTTATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0296 a0001c0001t0006g0296	1	352	0.0028	21	c.37 others(32): Show c.3765_*3766insTTTTTATTTTTTTTTATTTTT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2771		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTAT others(14): Show ATTTTTATTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02615.hp1 HG02486.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0036 a0001c0001t0006g0036	2	352	0.0057	21	c.37 others(32): Show c.3765_*3766insTTTTTATTTTTTTTTTTTTTT		SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding					2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76221359	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0281 a0002c0006t0001g0281	1	324	0.0031	21	c.-39 others(40): Show c.-39-13668_-39-13648dupTTTTTTTTTTTTTTTTTTTTT		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0212 a0001c0001t0002g0212	1	324	0.0031	21	c.233 others(36): Show c.233+711_233+731dupAAAAAAAAAAAAAAAAAAAAA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76277746	G G	GAGAAAGA others(14): Show GAGAAAGAAAGAAAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG01891.hp2 others(13): Show HG01243.hp1 HG01884.hp2 HG01891.hp2 HG02257.hp2 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp2 HG02735.hp1 HG02897.hp1 HG02976.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0009c0020	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0001c0005t0005 a0002c0002t0002 a0009c0020t0001	a0001c0001t0001g0320 a0001c0001t0002g0219 a0001c0001t0002g0223 others(13): Show a0001c0001t0001g0320 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0005t0002g0229 a0001c0005t0005g0216 a0001c0005t0005g0217 a0001c0005t0005g0218 a0002c0002t0002g0232 a0002c0002t0002g0233 a0002c0002t0002g0234 a0002c0002t0002g0235 a0009c0020t0001g0037	16	324	0.0494	21	c.100 others(40): Show c.1009-3694_1009-3693insGAAAGAAAGAAAAAAGAAAAA		SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	11/14					INFO_REALIGN_3_PRIME	chr7	TogoVar
SRSF12_chr6_89090959_89123071	89093793	A A	AATGTAGA others(14): Show AATGTAGAACATGCAATGCAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0040 a0001c0001t0005g0040	1	376	0.0027	21	c.47 others(32): Show c.4784_*4785insATTGCATTGCATGTTCTACAT		SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding					2165		chr6	TogoVar
SRSF3_chr6_36589362_36610600	36596574	C C	CGGGGGGG others(14): Show CGGGGGGGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18977.hp1 HG01258.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0209 a0001c0001t0002g0194 a0001c0001t0002g0209	2	382	0.0052	21	c.-2- others(34): Show c.-2-177_-2-176insGGGGGGGGGGGGGGGGGGGGG		SRSF3	ENSG00000112081.17	transcript	ENST00000373715.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr6	TogoVar
SRSF6_chr20_43452896_43469243	43461334	G G	GTTTTTTT others(14): Show GTTTTTTTGTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0002 a0001c0001t0074g0002	1	464	0.0022	21	c.27 others(30): Show c.273_*274insTTTTTGTTTTTTTTTTTTTTT		SRSF6	ENSG00000124193.16	transcript	ENST00000244020.5	protein_coding	6/6				274	INFO_REALIGN_3_PRIME	chr20	TogoVar
SRXN1_chr20_641615_658200	646515	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 NA20300.hp2 HG01496.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0047 a0001c0002t0005g0047	2	422	0.0047	21	c.21 others(32): Show c.2198_*2199insTTTTTTTTTTTTTTTTTTTTT		SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding					99		chr20	TogoVar
SS18L1_chr20_62138769_62187514	62183065	C C	CGGGAGCG others(14): Show CGGGAGCGGGGAGCGGGGAGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02818.hp1 others(4): Show HG02055.hp1 HG02723.hp2 HG02818.hp1 HG03130.hp2 HG03471.hp1 NA18906.hp1 NA19043.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0017 a0002c0003t0005 a0002c0003t0017	a0002c0003t0005g0174 a0002c0003t0005g0177 a0002c0003t0005g0192 others(4): Show a0002c0003t0005g0174 a0002c0003t0005g0177 a0002c0003t0005g0192 a0002c0003t0005g0196 a0002c0003t0005g0202 a0002c0003t0005g0216 a0002c0003t0017g0193	7	316	0.0222	21	c.38 others(32): Show c.3857_*3858insGGGAGCGGGGAGCGGGGAGCG		SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding					552		chr20	TogoVar
SSBP2_chr5_81407804_81756097	81542817	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0168 a0001c0001t0016g0168	1	206	0.0049	21	c.283 others(40): Show c.283-29101_283-29100insGAGAGAGAGAGAGAGAGAGAG		SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	4/16						chr5	TogoVar
SSBP3_chr1_54220432_54411394	54282041	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0155	1	280	0.0036	21	c.277 others(36): Show c.277-535_277-515dupATTATTATTATTATTATTATT		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19067.hp2 HG01934.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0156 a0001c0001t0001g0104 a0001c0001t0002g0156	2	280	0.0071	21	c.277 others(40): Show c.277-17404_277-17403insGTGTGTGTGTGTGTGTGTGTG		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0038	1	280	0.0036	21	c.277 others(40): Show c.277-55979_277-55959dupAAAAAAAAAAAAAAAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02074.hp1 HG02129.hp2 others(6): Show HG00438.hp1 HG02074.hp1 HG02129.hp2 HG02148.hp2 HG02523.hp1 NA18967.hp2 NA18979.hp2 NA18983.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 others(4): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0019 a0001c0001t0028 a0001c0001t0042 a0001c0001t0047	a0001c0001t0005g0041 a0001c0001t0008g0241 a0001c0001t0008g0252 others(6): Show a0001c0001t0005g0041 a0001c0001t0008g0241 a0001c0001t0008g0252 a0001c0001t0008g0258 a0001c0001t0010g0268 a0001c0001t0019g0257 a0001c0001t0028g0269 a0001c0001t0042g0239 a0001c0001t0047g0265	9	280	0.0321	21	c.276 others(40): Show c.276+15157_276+15177dupAAAAAAAAAAAAAAAAAAAAA		SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17						chr1	TogoVar
SSB_chr2_169793871_169817064	169800534	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02818.hp2 HG03041.hp1 others(1): Show HG01099.hp2 HG02818.hp2 HG03041.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0128 a0001c0001t0001g0038 a0001c0001t0001g0103 a0001c0001t0001g0128	4	426	0.0094	21	c.-9- others(34): Show c.-9-399_-9-398insAAAAAAAAAAAAAAAAAAAAA		SSB	ENSG00000138385.16	transcript	ENST00000260956.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA19240.hp1 HG03486.hp2 NA19240.hp1	a0003 a0013 a0003 a0013	a0003c0007 a0013c0037 a0003c0007 a0013c0037	a0003c0007t0002 a0013c0037t0001 a0003c0007t0002 a0013c0037t0001	a0003c0007t0002g0126 a0013c0037t0001g0134 a0003c0007t0002g0126 a0013c0037t0001g0134	2	412	0.0049	21	c.138 others(38): Show c.1387+451_1387+452insATATATATATATATATTTTTT		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(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0084 a0001c0084	a0001c0084t0001 a0001c0084t0001	a0001c0084t0001g0225 a0001c0084t0001g0225	1	412	0.0024	21	c.138 others(38): Show c.1387+451_1387+452insATATATTTTTTTTTTTTTTTT		SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108835936	T T	TATAACTA others(14): Show TATAACTATATTAATATAATCG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0298 a0001c0001t0012g0298	1	332	0.0030	21	c.111 others(40): Show c.111-12596_111-12576dupCGATTATATTAATATAGTTAT		SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14						chr12	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0155 a0001c0001t0155	a0001c0001t0155g0004 a0001c0001t0155g0004	1	454	0.0022	21	c.15 others(32): Show c.1508_*1528dupAAAAAAAAAAAAAAAAAAAAA		SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2				1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
SSU72L1_chr11_4333245_4344345	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00673.hp2 others(74): Show HG00423.hp1 HG00423.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp1 HG02280.hp1 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02896.hp2 HG02922.hp1 HG03195.hp1 HG03225.hp1 HG03492.hp2 HG03540.hp1 HG03669.hp1 HG03688.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18959.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18992.hp2 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19005.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19063.hp2 NA19074.hp1 NA19075.hp1 NA19079.hp1 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0010 a0011	a0001c0001 a0001c0010 a0002c0003 others(3): Show a0001c0001 a0001c0010 a0002c0003 a0007c0013 a0010c0021 a0011c0015	a0001c0001t0002 a0001c0001t0006 a0001c0010t0002 others(4): Show a0001c0001t0002 a0001c0001t0006 a0001c0010t0002 a0002c0003t0002 a0007c0013t0002 a0010c0021t0017 a0011c0015t0002	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0010t0002g0000 others(4): Show a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0010t0002g0000 a0002c0003t0002g0000 a0007c0013t0002g0000 a0010c0021t0017g0000 a0011c0015t0002g0000	77	341	0.2258	21	c.33 others(32): Show c.3306_*3307insACGGTCTCCCTCTCCCTCTCC		SSU72L1	ENSG00000284438.2	transcript	ENST00000524542.3	protein_coding					2891		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGAAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19059.hp1 NA19059.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	340	0.0029	21	c.49 others(32): Show c.4904_*4905insGGAGAGGGAGAGGAAGACCGT		SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding					4490		chr11	TogoVar
SSU72L3_chr11_4324790_4335864	4335353	G G	GGGAGAGG others(14): Show GGGAGAGGGAGAGGGAGACCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00544.hp1 others(74): Show HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG02015.hp2 HG02055.hp2 HG02486.hp2 HG02523.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03492.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03834.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18941.hp2 NA18947.hp1 NA18950.hp1 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18988.hp2 NA18992.hp1 NA18998.hp2 NA19000.hp1 NA19005.hp2 NA19007.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19056.hp2 NA19063.hp1 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp2 NA19091.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0002c0002 a0006c0008 others(1): Show a0001c0001 a0002c0002 a0006c0008 a0009c0010	a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 others(3): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0008 a0002c0002t0014 a0006c0008t0002 a0009c0010t0009	a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0008g0000 others(3): Show a0001c0001t0001g0000 a0002c0002t0002g0000 a0002c0002t0008g0000 a0002c0002t0014g0000 a0006c0008t0002g0000 a0009c0010t0009g0000	77	340	0.2265	21	c.49 others(32): Show c.4904_*4905insGGAGAGGGAGAGGGAGACCGT		SSU72L3	ENSG00000284546.2	transcript	ENST00000640302.2	protein_coding					4490		chr11	TogoVar
SSU72L4_chr11_4282084_4293185	4282560	C C	CTCTCCCT others(14): Show CTCTCCCTCTCCCTCTCCACGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 NA18952.hp1 HG01515.hp1 HG01517.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0000 a0001c0001t0004g0000	3	318	0.0094	21	c.49 others(32): Show c.4938_*4939insCCGTGGAGAGGGAGAGGGAGA		SSU72L4	ENSG00000283873.2	transcript	ENST00000638166.2	protein_coding					4523		chr11	TogoVar
SSU72L6_chr7_124471317_124482664	124479016	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG03492.hp2 HG03927.hp1 others(6): Show HG02129.hp2 HG03492.hp2 HG03927.hp1 HG04184.hp2 NA18948.hp2 NA18975.hp2 NA18984.hp2 NA19004.hp1 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	9	466	0.0193	21	c.20 others(32): Show c.2061_*2062insAAAAAAAAAAAAAAAAAAAAA		SSU72L6	ENSG00000230268.4	transcript	ENST00000473520.2	protein_coding					1353		chr7	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG04199.hp2 HG02897.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0140 a0001c0001t0006g0021 a0001c0001t0001g0140 a0001c0001t0006g0021	2	344	0.0058	21	c.58 others(32): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTT		ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding					3871		chr22	TogoVar
ST3GAL1_chr8_133449848_133576887	133535525	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0006 a0001c0001t0001 a0002c0005t0006	a0001c0001t0001g0053 a0002c0005t0006g0195 a0001c0001t0001g0053 a0002c0005t0006g0195	2	332	0.0060	21	c.-42 others(42): Show c.-429+10248_-429+10249insAAAAAAAAAAAAAAAAAAAAA		ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9						chr8	TogoVar
ST3GAL4_chr11_126350686_126419638	126371163	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	324	0.0031	21	c.-61 others(40): Show c.-61+15340_-61+15341insTTTTTTTTTTTTTTTTTTTTT		ST3GAL4	ENSG00000110080.20	transcript	ENST00000444328.7	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
ST6GAL1_chr3_186925526_187083553	186984744	C C	CTTCCTCC others(14): Show CTTCCTCCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp1 NA18970.hp1 others(3): Show HG01891.hp2 HG03209.hp1 NA18970.hp1 NA19030.hp2 NA19066.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0002t0008	a0001c0001t0002g0328 a0001c0001t0004g0013 a0001c0001t0004g0334 others(3): Show a0001c0001t0002g0328 a0001c0001t0004g0013 a0001c0001t0004g0334 a0001c0001t0004g0352 a0001c0001t0005g0150 a0001c0002t0008g0084	6	362	0.0166	21	c.-18 others(42): Show c.-183+20819_-183+20820insTCCTCCCTTCCTTCCTTCCTT		ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL2_chr2_106796600_106891167	106823442	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0030 a0001c0001t0018g0030	1	372	0.0027	21	c.131 others(40): Show c.1318+6623_1318+6624insGTGTGTGTGTGTGTGTGTGTG		ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	5/5						chr2	TogoVar
ST6GALNAC6_chr9_127880321_127904603	127900991	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	360	0.0028	21	c.-15 others(32): Show c.-1539_-1519dupTTTTTTTTTTTTTTTTTTTTT		ST6GALNAC6	ENSG00000160408.16	transcript	ENST00000373146.6	protein_coding					1389		chr9	TogoVar
ST7L_chr1_112518514_112624141	112599073	A A	AAAAAAAA others(14): Show AAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0039	1	364	0.0028	21	c.507 others(36): Show c.507-988_507-987insATATATATATATATTTTTTTT		ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14						chr1	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	188	0.0053	21	c.152 others(38): Show c.152-1853_152-1852insATATATATATATATATATTTT		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(14): Show ATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	188	0.0053	21	c.152 others(38): Show c.152-1853_152-1852insATATATTTTTTTTTTTTTTTT		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr7	TogoVar
ST7_chr7_116948501_117235176	117097909	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	188	0.0053	21	c.152 others(38): Show c.152-1853_152-1852insATATATATATATATATATATA		ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15						chr7	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAAAAAA others(14): Show CAAAAAAAACAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 NA18967.hp1 NA18993.hp1 others(2): Show HG01123.hp2 NA18967.hp1 NA18993.hp1 NA19076.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0014 a0001c0001t0067 others(2): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0067 a0001c0002t0013 a0001c0002t0054	a0001c0001t0010g0091 a0001c0001t0014g0017 a0001c0001t0067g0151 others(2): Show a0001c0001t0010g0091 a0001c0001t0014g0017 a0001c0001t0067g0151 a0001c0002t0013g0164 a0001c0002t0054g0180	5	282	0.0177	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTGTTTTTTTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4						chr12	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAACAAA others(14): Show CAAACAAAAAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02451.hp1 HG02559.hp2 others(4): Show HG02280.hp1 HG02451.hp1 HG02559.hp2 HG02976.hp2 HG03098.hp2 NA18906.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0152 a0001c0001t0158 a0001c0002t0038 others(2): Show a0001c0001t0152 a0001c0001t0158 a0001c0002t0038 a0001c0002t0039 a0001c0002t0140	a0001c0001t0152g0174 a0001c0001t0158g0056 a0001c0002t0038g0038 others(4): Show a0001c0001t0152g0174 a0001c0001t0158g0056 a0001c0002t0038g0038 a0001c0002t0038g0045 a0001c0002t0039g0048 a0001c0002t0039g0264 a0001c0002t0140g0047	7	282	0.0248	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTTTTTTGTTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4						chr12	TogoVar
ST8SIA1_chr12_22188391_22339707	22285877	C C	CAAACAAA others(14): Show CAAACAAACAAAAAAAAACAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03516.hp1 HG03139.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0169 a0001c0001t0189 a0001c0001t0169 a0001c0001t0189	a0001c0001t0169g0062 a0001c0001t0189g0068 a0001c0001t0169g0062 a0001c0001t0189g0068	2	282	0.0071	21	c.381 others(38): Show c.381+1271_381+1272insTTTGTTTTTTTTTGTTTGTTT		ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	2/4						chr12	TogoVar
ST8SIA2_chr15_92388881_92473728	92434585	C C	CGGTGGCA others(14): Show CGGTGGCAGGAACACCCGCTGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(2): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG02109.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0016 a0001c0004t0060 a0001c0005t0014 others(1): Show a0001c0002t0016 a0001c0004t0060 a0001c0005t0014 a0001c0005t0016	a0001c0002t0016g0011 a0001c0004t0060g0028 a0001c0005t0014g0229 others(1): Show a0001c0002t0016g0011 a0001c0004t0060g0028 a0001c0005t0014g0229 a0001c0005t0016g0228	5	372	0.0134	21	c.290 others(36): Show c.290+214_290+234dupGGCAGGAACACCCGCTGAGGT		ST8SIA2	ENSG00000140557.12	transcript	ENST00000268164.8	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr15	TogoVar
ST8SIA5_chr18_46662821_46762053	46725972	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0328 a0001c0001t0004g0328	1	362	0.0028	21	c.132 others(40): Show c.132-21309_132-21308insATATATATATATATATATATA		ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6						chr18	TogoVar
STAC_chr3_36375504_36553007	36492025	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	316	0.0032	21	c.688 others(38): Show c.688-1126_688-1125insTATATATATATATATATATAT		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10						chr3	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	316	0.0032	21	c.688 others(38): Show c.688-1119_688-1118insAAAAAAAAAAATATATATATA		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(14): Show AAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA18983.hp1 NA19010.hp1 HG02809.hp2 NA18983.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0295 a0001c0001t0002g0150 a0001c0001t0006g0084 a0001c0001t0001g0295 a0001c0001t0002g0150 a0001c0001t0006g0084	3	316	0.0095	21	c.688 others(38): Show c.688-1119_688-1118insAAAAAAAAATATATATATATA		STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10					INFO_REALIGN_3_PRIME	chr3	TogoVar

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