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
SRMS_chr20_63533489_63552749	63535822	A A	ACCTGGCC others(16): Show ACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	356	0.0028	23	c.49 others(34): Show c.4995_*4996insAGAGGAGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2666		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535841	C C	CCCTCATC others(16): Show CCCTCATCTGGCCTCCCGCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0031 a0011c0014t0002g0031	1	356	0.0028	23	c.49 others(34): Show c.4976_*4977insAGGGGGCGGGAGGCCAGATGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2647		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535925	C C	CCGCCCCC others(16): Show CCGCCCCCCCCCCTCACCTGGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0017 a0001c0001t0012g0017	1	356	0.0028	23	c.48 others(34): Show c.4892_*4893insAGGCCAGGTGAGGGGGGGGGGCG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2563		chr20	TogoVar
SRMS_chr20_63533489_63552749	63535956	C C	CCCTCACC others(16): Show CCCTCACCTGGCCTCCCACCCCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0009 a0006c0008t0009	a0006c0008t0009g0012 a0006c0008t0009g0012	1	356	0.0028	23	c.48 others(34): Show c.4861_*4862insACGGGGTGGGAGGCCAGGTGAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2532		chr20	TogoVar
SRMS_chr20_63533489_63552749	63536007	A A	ACCTGGCC others(16): Show ACCTGGCCTCCCGCCCCCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18991.hp2 NA18999.hp2 NA18964.hp1 NA18991.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0001 a0001c0001t0012g0017 a0001c0001t0001g0001 a0001c0001t0012g0017	3	356	0.0084	23	c.47 others(34): Show c.4788_*4810dupAGAGGAGGGGGCGGGAGGCCAGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2481		chr20	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	396	0.0025	23	c.-34 others(40): Show c.-34+5364_-34+5365insAAAAAAAAAAAAATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0273 a0001c0001t0002g0273	1	396	0.0025	23	c.-34 others(40): Show c.-34+5364_-34+5365insAAAAAAAAATATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988582	T T	TATATATA others(16): Show TATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0280 a0001c0001t0005g0280	1	396	0.0025	23	c.-34 others(40): Show c.-34+5380_-34+5381insTATATATAACATATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	35014290	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18906.hp2 HG02273.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0331 a0001c0001t0002g0374 a0001c0001t0002g0331 a0001c0001t0002g0374	2	396	0.0051	23	c.886 others(38): Show c.886+392_886+393insTTTTTTTTTTTTTTTTTTGTTTT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062701	G G	GTATAATA others(16): Show GTATAATATATACATTATATATTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG03225.hp1 HG02895.hp1 HG02896.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329 a0001c0002t0001g0327 a0001c0002t0001g0328 a0001c0002t0001g0329	3	365	0.0082	23	c.562 others(40): Show c.562-1128_562-1127insTAATATATAATGTATATATTATA	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0209 a0001c0004t0003g0209	1	388	0.0026	23	c.958 others(38): Show c.958-707_958-685dupTTTTTTTTTTTTTTTTTTTTTTT	SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRPK2_chr7_105111374_105393921	105159448	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01928.hp2 HG01358.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0238 a0001c0001t0002g0226 a0001c0001t0001g0238 a0001c0001t0002g0226	2	282	0.0071	23	c.621 others(40): Show c.621+1036_621+1058dupTTTTTTTTTTTTTTTTTTTTTTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRPX2_chrX_100639199_100680788	100657349	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00733.hp1 others(37): Show HG00323.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp1 HG01081.hp2 HG01169.hp2 HG01257.hp1 HG01257.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01993.hp1 HG02071.hp1 HG02300.hp1 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG03017.hp1 HG03453.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 NA18522.hp1 NA18945.hp1 NA18956.hp2 NA18965.hp1 NA18972.hp1 NA18977.hp1 NA19055.hp1 NA19067.hp1 NA19083.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0044 a0001c0001t0052	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(32): Show a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0198 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0079 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0113 a0001c0001t0002g0161 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0222 a0001c0001t0003g0096 a0001c0001t0003g0106 a0001c0001t0005g0031 a0001c0001t0007g0266 a0001c0001t0007g0268 a0001c0001t0008g0001 a0001c0001t0016g0121 a0001c0001t0020g0005 a0001c0001t0020g0089 a0001c0001t0044g0039 a0001c0001t0052g0101	40	318	0.1258	23	c.164 others(40): Show c.164-4808_164-4807insTTTTTTTTTTTTTTTTTTTTTTT	SRPX2	ENSG00000102359.9	transcript	ENST00000373004.5	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	352	0.0028	23	c.-28 others(34): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24676051	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	352	0.0028	23	c.37 others(34): Show c.3765_*3766insTTTTTTTTTTTTTTTTTTTTTTT	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2771		chr1	TogoVar
SRRM3_chr7_76196896_76292287	76236005	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0213 a0001c0001t0002g0213	1	324	0.0031	23	c.233 others(38): Show c.233+709_233+731dupAAAAAAAAAAAAAAAAAAAAAAA	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76266487	T T	TATATTTA others(16): Show TATATTTATATATTTAATATATAA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 NA18951.hp1 HG01515.hp2 HG01517.hp1 NA18951.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0002c0002t0003g0015 a0001c0001t0001g0004 a0001c0001t0001g0005 a0002c0002t0003g0015	3	324	0.0093	23	c.831 others(38): Show c.831-757_831-735dupTAATATATAAATATTTATATATT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SRRM3_chr7_76196896_76292287	76284035	T T	TCTAACAG others(16): Show TCTAACAGGGTAGTGCATTTTCAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	324	0.0031	23	c.173 others(40): Show c.1733+934_1733+935insCTAACAGGGTAGTGCATTTTCAG	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	14/14			chr7	TogoVar
SRRM4_chr12_118976541_119168051	118983988	G G	GCCTGAAC others(16): Show GCCTGAACCATAAGCCCTGGATTA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18971.hp1 NA19043.hp1 HG02132.hp2 NA18971.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0084 a0001c0001t0092 a0003c0003t0017 a0001c0001t0084 a0001c0001t0092 a0003c0003t0017	a0001c0001t0084g0205 a0001c0001t0092g0253 a0003c0003t0017g0206 a0001c0001t0084g0205 a0001c0001t0092g0253 a0003c0003t0017g0206	3	328	0.0092	23	c.131 others(40): Show c.131+1997_131+1998insACCTGAACCATAAGCCCTGGATT	SRRM4	ENSG00000139767.10	transcript	ENST00000267260.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRSF12_chr6_89090959_89123071	89108721	G G	GCAGTATT others(16): Show GCAGTATTTGAGGTGATGGTAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	376	0.0027	23	c.66- others(38): Show c.66-1486_66-1464dupTTCTACCATCACCTCAAATACTG	SRSF12	ENSG00000154548.9	transcript	ENST00000452027.3	protein_coding	1/4			chr6	TogoVar
SS18L1_chr20_62138769_62187514	62146605	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0292 a0001c0002t0001g0292	1	316	0.0032	23	c.69+ others(38): Show c.69+2737_69+2738insTTTTTTTTTTTTTTTTTTTTTTT	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SSBP2_chr5_81407804_81756097	81415922	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAGAAAAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01168.hp2 others(45): Show HG00323.hp2 HG00741.hp1 HG01168.hp2 HG01243.hp2 HG01346.hp2 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02145.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp1 HG03654.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18942.hp2 NA18953.hp2 NA18961.hp2 NA18984.hp1 NA19066.hp2 NA19070.hp2 NA19079.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 others(22): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0014 a0001c0001t0016 a0001c0001t0023 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0058 a0001c0001t0060 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0002t0015 a0001c0002t0016 a0001c0002t0032 a0001c0002t0063 a0001c0002t0064	a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 others(45): Show a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0035 a0001c0001t0003g0070 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0004g0007 a0001c0001t0004g0038 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0014g0195 a0001c0001t0014g0196 a0001c0001t0014g0197 a0001c0001t0016g0125 a0001c0001t0016g0168 a0001c0001t0023g0089 a0001c0001t0023g0107 a0001c0001t0040g0085 a0001c0001t0041g0084 a0001c0001t0042g0151 a0001c0001t0043g0041 a0001c0001t0044g0206 a0001c0001t0045g0087 a0001c0001t0058g0101 a0001c0001t0060g0109 a0001c0001t0065g0105 a0001c0001t0066g0036 a0001c0001t0067g0042 a0001c0001t0068g0043 a0001c0001t0069g0199 a0001c0001t0072g0127 a0001c0001t0073g0177 a0001c0002t0015g0093 a0001c0002t0015g0094 a0001c0002t0015g0097 a0001c0002t0016g0047 a0001c0002t0032g0099 a0001c0002t0032g0138 a0001c0002t0063g0108 a0001c0002t0064g0123	48	206	0.2330	23	c.45 others(34): Show c.4581_*4582insCTTTTCTTTTTTTTTTTTTTTTT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	17/17	4581		chr5	TogoVar
SSBP3_chr1_54220432_54411394	54298930	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03492.hp2 NA18944.hp1 others(1): Show HG02886.hp2 HG03492.hp2 NA18944.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0014 a0001c0001t0019	a0001c0001t0002g0066 a0001c0001t0010g0273 a0001c0001t0014g0147 others(1): Show a0001c0001t0002g0066 a0001c0001t0010g0273 a0001c0001t0014g0147 a0001c0001t0019g0255	4	280	0.0143	23	c.277 others(42): Show c.277-17404_277-17403insGTGTGTGTGTGTGTGTGTGTGTG	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54337485	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0037 a0001c0002t0013g0037	1	280	0.0036	23	c.277 others(42): Show c.277-55981_277-55959dupAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54386683	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02451.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG02451.hp1 HG02976.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0034 a0001c0002t0013 a0001c0005t0025	a0001c0001t0002g0046 a0001c0001t0002g0087 a0001c0001t0004g0038 others(4): Show a0001c0001t0002g0046 a0001c0001t0002g0087 a0001c0001t0004g0038 a0001c0001t0004g0124 a0001c0001t0034g0045 a0001c0002t0013g0088 a0001c0005t0025g0134	7	280	0.0250	23	c.276 others(42): Show c.276+15177_276+15178insAAAAAAAAAAAAAAAAAAAAAAA	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	4/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405339	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18972.hp2 HG02056.hp2 NA18972.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0284 a0001c0005t0002g0285 a0001c0005t0002g0284 a0001c0005t0002g0285	2	388	0.0052	23	c.-66 others(38): Show c.-66-835_-66-834insAAAGAAAGAAAGAAAGAAAGAAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC4D_chr7_76384337_76414697	76405340	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0301 a0011c0018t0002g0301	1	388	0.0026	23	c.-66 others(38): Show c.-66-836_-66-835insGAAAGAAAGAAAGAAAGAAAGAA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495216	C C	CATATATA others(16): Show CATATATATATATATATATATACT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0033 a0033	a0033c0082 a0033c0082	a0033c0082t0002 a0033c0082t0002	a0033c0082t0002g0315 a0033c0082t0002g0315	1	412	0.0024	23	c.138 others(40): Show c.1387+451_1387+452insATACTATATATATATATATATAT	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(16): Show ATATATATATATATATATATAATT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0363 a0004c0004t0001g0363	1	412	0.0024	23	c.138 others(40): Show c.1387+451_1387+452insATATATATATATATATATAATTT	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(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18999.hp1 NA18956.hp1 NA18999.hp1	a0001 a0047 a0001 a0047	a0001c0001 a0047c0054 a0001c0001 a0047c0054	a0001c0001t0001 a0047c0054t0001 a0001c0001t0001 a0047c0054t0001	a0001c0001t0001g0053 a0047c0054t0001g0033 a0001c0001t0001g0053 a0047c0054t0001g0033	2	412	0.0049	23	c.138 others(40): Show c.1387+451_1387+452insATATATATATATATATATATATT	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(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0020 a0020	a0020c0033 a0020c0033	a0020c0033t0001 a0020c0033t0001	a0020c0033t0001g0014 a0020c0033t0001g0014	1	412	0.0024	23	c.138 others(40): Show c.1387+451_1387+452insATATATATATATATATATATTTT	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(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0038 a0038	a0038c0071 a0038c0071	a0038c0071t0001 a0038c0071t0001	a0038c0071t0001g0366 a0038c0071t0001g0366	1	412	0.0024	23	c.138 others(40): Show c.1387+451_1387+452insATATATATATATATATATTTTTT	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(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	412	0.0024	23	c.138 others(40): Show c.1387+451_1387+452insATATATATTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29702452	C C	CGAGGCCA others(16): Show CGAGGCCAGCCTGGCTAATGTGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG03516.hp2 HG02258.hp2 HG02451.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0085 a0001c0001t0013g0083 a0001c0001t0013g0084 a0001c0001t0013g0085	3	232	0.0129	23	c.292 others(38): Show c.292+484_292+506dupACCACATTAGCCAGGCTGGCCTC	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	4/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAATTATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	232	0.0043	23	c.63+ others(40): Show c.63+16590_63+16591insATATAATTTTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00733.hp2 others(6): Show HG00280.hp2 HG00558.hp1 HG00733.hp2 HG01069.hp1 HG02257.hp2 HG02572.hp2 HG02647.hp1 NA19007.hp2 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0005 a0001c0001t0001 a0002c0002t0005	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(6): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0080 a0002c0002t0005g0027	9	232	0.0388	23	c.63+ others(40): Show c.63+16590_63+16591insATATATAATTTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	232	0.0043	23	c.63+ others(40): Show c.63+16590_63+16591insATATATATATTTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAATTATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	232	0.0043	23	c.63+ others(40): Show c.63+16590_63+16591insATATATATAATTTTTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSTR2_chr17_73160010_73181633	73171921	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0153 a0001c0001t0153	a0001c0001t0153g0006 a0001c0001t0153g0006	1	454	0.0022	23	c.15 others(34): Show c.1506_*1528dupAAAAAAAAAAAAAAAAAAAAAAA	SSTR2	ENSG00000180616.9	transcript	ENST00000357585.4	protein_coding	2/2	1529	INFO_REALIGN_3_PRIME	chr17	TogoVar
ST13_chr22_40819535_40861639	40820663	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG01070.hp1 HG02723.hp2 others(2): Show HG00140.hp2 HG01070.hp1 HG02723.hp2 HG02896.hp2 HG03490.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0106 a0001c0001t0001g0111 a0003c0003t0001g0032 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0111 a0003c0003t0001g0032 a0003c0003t0001g0101	5	344	0.0145	23	c.58 others(34): Show c.5874_*5875insTTTTTTTTTTTTTTTTTTTTTTT	ST13	ENSG00000100380.15	transcript	ENST00000216218.8	protein_coding		3871		chr22	TogoVar
ST3GAL2_chr16_70370977_70444100	70389202	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	312	0.0032	23	c.534 others(38): Show c.534-679_534-657dupTTTTTTTTTTTTTTTTTTTTTTT	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	3/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43817570	T T	TCTTCCTT others(16): Show TCTTCCTTCTTCTTCTCCTTCTTC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	274	0.0037	23	c.209 others(40): Show c.209+2641_209+2642insCTTCTTCTTCTCCTTCTTCCTTC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC1_chr17_76619763_76648757	76642229	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0116 a0001c0001t0003g0116	1	412	0.0024	23	c.131 others(40): Show c.131+1278_131+1279insGATAGATAGATAGATAGATAGAT	ST6GALNAC1	ENSG00000070526.15	transcript	ENST00000156626.12	protein_coding	1/8			chr17	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	202	0.0050	23	c.75 others(34): Show c.7568_*7569insTATATATATATATATATATATAT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0170 a0001c0001t0021g0170	1	202	0.0050	23	c.75 others(34): Show c.7568_*7569insTATATATATATATATATTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST7L_chr1_112518514_112624141	112599073	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0289 a0001c0001t0002g0289	1	364	0.0028	23	c.507 others(38): Show c.507-988_507-987insATATATATATATATATATATATT	ST7L	ENSG00000007341.19	transcript	ENST00000358039.9	protein_coding	4/14			chr1	TogoVar
ST7_chr7_116948501_117235176	117097908	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	188	0.0053	23	c.152 others(40): Show c.152-1853_152-1852insATATATATATTTTTTTTTTTTTT	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
ST8SIA5_chr18_46662821_46762053	46710363	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0340 a0001c0001t0019g0340	1	362	0.0028	23	c.132 others(40): Show c.132-5700_132-5699insGAAAGAAAGAAAGAAAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17347953	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0255 a0001c0001t0005g0255	1	296	0.0034	23	c.377 others(42): Show c.377+11560_377+11561insTTTTTTTTTTTTTTTTTTTTTTT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	316	0.0032	23	c.688 others(40): Show c.688-1119_688-1118insAAAAAAAAATATATATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar

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