JoGo: Joint Open Genome and Omics Platform

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
SRGAP1_chr12_63839700_64167217	63913478	GATATATA others(23): Show GATATATATATATAAATACACATATATGTGT	G G	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0124 a0001c0002t0003g0124	1	170	0.0059	-30	c.67+ others(47): Show c.67+68607_67+68636delTAAATACACATATATGTGTATATATATA TA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948825	CATATATA others(23): Show CATATATATATTCCATATATATATTTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp2 HG02630.hp1 others(6): Show HG02258.hp1 HG02451.hp2 HG02630.hp1 HG02818.hp2 HG03209.hp1 NA18988.hp2 NA19030.hp2 NA19057.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0093 a0001c0001t0098 a0001c0001t0103 others(6): Show a0001c0001t0093 a0001c0001t0098 a0001c0001t0103 a0001c0001t0115 a0001c0002t0005 a0001c0002t0043 a0001c0002t0045 a0001c0006t0084 a0001c0006t0150	a0001c0001t0093g0033 a0001c0001t0098g0130 a0001c0001t0103g0159 others(6): Show a0001c0001t0093g0033 a0001c0001t0098g0130 a0001c0001t0103g0159 a0001c0001t0115g0142 a0001c0002t0005g0158 a0001c0002t0043g0094 a0001c0002t0045g0082 a0001c0006t0084g0018 a0001c0006t0150g0167	9	170	0.0529	-30	c.68- others(47): Show c.68-35023_68-34994delATTCCATATATATATTTTCCATATATAT AT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63948943	CATATATA others(23): Show CATATATATATTCCATATATATATTTTCCAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03579.hp2 HG02559.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0147 a0001c0001t0148 a0001c0001t0147 a0001c0001t0148	a0001c0001t0147g0132 a0001c0001t0148g0116 a0001c0001t0147g0132 a0001c0001t0148g0116	2	170	0.0118	-30	c.68- others(47): Show c.68-34984_68-34955delATATTTTCCATATATATATATTCCATAT AT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03486.hp2 HG03098.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0141 a0001c0008t0131 a0001c0001t0141 a0001c0008t0131	a0001c0001t0141g0012 a0001c0008t0131g0020 a0001c0001t0141g0012 a0001c0008t0131g0020	2	170	0.0118	-30	c.68- others(42): Show c.68-121_68-92delATATATATATATATATATATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2C_chr1_121179975_121397874	121354313	TCTTTCTT others(23): Show TCTTTCTTTCTTTCTTTTCTTTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0002 a0008c0006t0002	a0008c0006t0002g0036 a0008c0006t0002g0036	1	274	0.0037	-30	c.424 others(49): Show c.424-10979_424-10950delCTTTCTTTCTTTCTTTTCTTTCTCTC TCTC	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9			chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9096937	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03579.hp2 HG02622.hp1 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0017 a0001c0007 a0001c0017	a0001c0007t0020 a0001c0017t0014 a0001c0007t0020 a0001c0017t0014	a0001c0007t0020g0074 a0001c0017t0014g0219 a0001c0007t0020g0074 a0001c0017t0014g0219	2	228	0.0088	-30	c.423 others(47): Show c.423+7713_423+7742delTATATATATATATATATATATATATATA TA	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9096952	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0002 a0007c0020t0002	a0007c0020t0002g0141 a0007c0020t0002g0141	1	228	0.0044	-30	c.423 others(47): Show c.423+7698_423+7727delGTATATATATATATATATATATATATAT AT	SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	3/21			chr3	TogoVar
SRP54_chr14_34977992_35034567	35007644	ATAAAATA others(23): Show ATAAAATATATTTACATAAAATAGATTTTAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp2 HG01993.hp2 others(5): Show HG00738.hp2 HG01496.hp2 HG01993.hp2 HG02145.hp1 HG02258.hp1 HG02559.hp1 HG03471.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(5): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016	8	396	0.0202	-30	c.360 others(45): Show c.360+364_360+393delAAAATAGATTTTATTAAAATATATTTACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRRM3_chr7_76196896_76292287	76223820	GCCTTCCC others(23): Show GCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00639.hp1 others(49): Show HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01192.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp1 HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02071.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02717.hp1 HG02723.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp2 NA18960.hp2 NA18981.hp1 NA18983.hp2 NA18985.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18998.hp1 NA19005.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19080.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0005 a0002c0002 others(1): Show a0001c0001 a0001c0005 a0002c0002 a0006c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0005t0002 a0001c0005t0005 a0002c0002t0004 a0006c0012t0001	a0001c0001t0001g0112 a0001c0001t0002g0212 a0001c0001t0002g0213 others(49): Show a0001c0001t0001g0112 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0280 a0001c0001t0003g0222 a0001c0001t0006g0220 a0001c0001t0007g0221 a0001c0005t0002g0229 a0001c0005t0005g0216 a0001c0005t0005g0217 a0001c0005t0005g0218 a0002c0002t0004g0241 a0002c0002t0004g0242 a0002c0002t0004g0243 a0006c0012t0001g0322 a0006c0012t0001g0323	52	324	0.1605	-30	c.-39 others(49): Show c.-39-11164_-39-11135delTCCCTTCCCTTCCCTTCCCTTCCCTT CCCT	SRRM3	ENSG00000177679.16	transcript	ENST00000611745.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
SSBP2_chr5_81407804_81756097	81488030	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02970.hp2 HG02615.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0075 a0001c0001t0024 a0001c0001t0075	a0001c0001t0024g0117 a0001c0001t0075g0144 a0001c0001t0024g0117 a0001c0001t0075g0144	2	206	0.0097	-30	c.432 others(47): Show c.432+1190_432+1219delTTATATATATATATATATATATATATAT AT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	6/16			chr5	TogoVar
SSBP2_chr5_81407804_81756097	81501212	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0033 a0001c0003t0033	a0001c0003t0033g0193 a0001c0003t0033g0193	1	206	0.0049	-30	c.373 others(49): Show c.373-11933_373-11904delATATATATATATATATATATATATAT ATAT	SSBP2	ENSG00000145687.17	transcript	ENST00000615665.5	protein_coding	5/16			chr5	TogoVar
SSBP3_chr1_54220432_54411394	54240045	GGGGTGTG others(23): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01261.hp2 HG02738.hp2 others(6): Show HG01069.hp2 HG01261.hp2 HG02738.hp2 HG03239.hp1 HG03669.hp1 HG03710.hp2 HG04115.hp2 NA18979.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(5): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0018 a0001c0001t0022 a0001c0001t0040	a0001c0001t0003g0230 a0001c0001t0005g0093 a0001c0001t0007g0200 others(6): Show a0001c0001t0003g0230 a0001c0001t0005g0093 a0001c0001t0007g0200 a0001c0001t0007g0204 a0001c0001t0009g0164 a0001c0001t0012g0011 a0001c0001t0018g0243 a0001c0001t0022g0279 a0001c0001t0040g0184	9	280	0.0321	-30	c.856 others(45): Show c.856+830_857-847delACACACACACACACACACACACACACACCC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSBP3_chr1_54220432_54411394	54240069	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGCGCGCGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 NA19088.hp2 others(1): Show HG01074.hp2 HG01243.hp1 NA19088.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0191 a0001c0001t0007g0173 a0001c0001t0007g0195 others(1): Show a0001c0001t0003g0191 a0001c0001t0007g0173 a0001c0001t0007g0195 a0001c0001t0007g0223	4	280	0.0143	-30	c.856 others(45): Show c.856+806_856+835delGCGCGCGCGCGCACACACACACACACACAC	SSBP3	ENSG00000157216.17	transcript	ENST00000610401.6	protein_coding	13/17			chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405271	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01993.hp1 others(1): Show HG01070.hp1 HG01192.hp1 HG01993.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0031 a0001c0001t0001g0201 a0001c0001t0001g0202	4	388	0.0103	-30	c.-66 others(45): Show c.-66-796_-66-767delTATATATATATATATATATATATATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
ST14_chr11_130154782_130215362	130170644	GGGTTCCT others(23): Show GGGTTCCTAACCGAGAGGTTAGGAACCTCTT	G G	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0226 a0002c0004t0002g0226	1	292	0.0034	-30	c.81+ others(47): Show c.81+10595_81+10624delCGAGAGGTTAGGAACCTCTTGGTTCCTA AC	ST14	ENSG00000149418.11	transcript	ENST00000278742.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
ST18_chr8_52105838_52414756	52357676	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0057 a0001c0001t0019g0057	1	104	0.0096	-30	c.-46 others(51): Show c.-465+51622_-465+51651delATATATATATATATATATATATAT ATATAT	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133540968	CATATATA others(23): Show CATATATATGCAGACATATATATAGACATAT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	332	0.0030	-30	c.-42 others(49): Show c.-429+4776_-429+4805delATATGTCTATATATATGTCTGCATAT ATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL1_chr8_133449848_133576887	133576565	CAAAAAAA others(23): Show CAAAAAAACAAAAAACAAAAAAAAAAAACAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0078 a0001c0004t0078	a0001c0004t0078g0323 a0001c0004t0078g0323	1	332	0.0030	-30	c.-54 others(41): Show c.-5484_-5455delTTGTTTTTTTTTTTTGTTTTTTGTTTTTTT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding		4679		chr8	TogoVar
ST3GAL3_chr1_43702536_43936159	43875897	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02572.hp1 others(3): Show HG01891.hp1 HG02451.hp1 HG02572.hp1 HG02622.hp2 HG02886.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 others(3): Show a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0258	6	274	0.0219	-30	c.303 others(49): Show c.303-18460_303-18431delCTTCTTCTTCTTCTTCTTCTTCTTCT TCTT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875923	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02976.hp2 NA19240.hp1 HG02280.hp1 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0248 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0248	3	274	0.0110	-30	c.303 others(49): Show c.303-18457_303-18428delCTTCTTCTTCTTCTTCTTCTTCTTCT TATT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875926	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTATTA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03540.hp1 NA20129.hp2 HG03209.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0263	3	274	0.0110	-30	c.303 others(49): Show c.303-18454_303-18425delCTTCTTCTTCTTCTTCTTCTTCTTAT TATT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875929	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTCTTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp2 HG02965.hp2 others(1): Show HG02258.hp1 HG02717.hp2 HG02965.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0250 others(1): Show a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0250 a0001c0001t0001g0253	4	274	0.0146	-30	c.303 others(49): Show c.303-18451_303-18422delCTTCTTCTTCTTCTTCTTCTTATTAT TATT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43875932	CTTCTTCT others(23): Show CTTCTTCTTCTTCTTCTTCTTATTATTATTA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	274	0.0037	-30	c.303 others(49): Show c.303-18448_303-18419delCTTCTTCTTCTTCTTCTTATTATTAT TATT	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43904819	ACTCTTTC others(23): Show ACTCTTTCCCCTCCTCCTGCTCCTATTCCTG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0034 a0001c0001t0004g0034	1	274	0.0037	-30	c.744 others(47): Show c.744+5094_744+5123delTCTTTCCCCTCCTCCTGCTCCTATTCCT GC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GAL1_chr3_186925526_187083553	186926202	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(126): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18943.hp1 NA18945.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp1 NA18981.hp2 NA18983.hp2 NA18986.hp1 NA18988.hp2 NA18993.hp1 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp2 NA19062.hp2 NA19066.hp2 NA19074.hp2 NA19083.hp2 NA19084.hp2 NA19090.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0012 a0002c0013 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(47): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0061 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0077 a0001c0002t0008 a0001c0002t0020 a0001c0002t0022 a0001c0002t0026 a0001c0002t0027 a0001c0002t0030 a0001c0002t0046 a0001c0003t0017 a0001c0003t0019 a0001c0003t0025 a0001c0003t0058 a0001c0004t0031 a0001c0004t0038 a0001c0007t0010 a0001c0012t0021 a0002c0013t0035 a0003c0010t0044	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 others(126): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0310 a0001c0001t0003g0129 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0168 a0001c0001t0003g0174 a0001c0001t0003g0177 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0194 a0001c0001t0003g0204 a0001c0001t0004g0013 a0001c0001t0005g0081 a0001c0001t0005g0085 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0161 a0001c0001t0005g0163 a0001c0001t0005g0164 a0001c0001t0005g0167 a0001c0001t0005g0183 a0001c0001t0005g0198 a0001c0001t0006g0080 a0001c0001t0006g0102 a0001c0001t0006g0142 a0001c0001t0006g0162 a0001c0001t0007g0090 a0001c0001t0007g0091 a0001c0001t0007g0093 a0001c0001t0007g0094 a0001c0001t0007g0104 a0001c0001t0007g0111 a0001c0001t0007g0121 a0001c0001t0007g0205 a0001c0001t0010g0003 a0001c0001t0010g0095 a0001c0001t0010g0103 a0001c0001t0010g0118 a0001c0001t0010g0123 a0001c0001t0010g0127 a0001c0001t0010g0180 a0001c0001t0010g0209 a0001c0001t0011g0100 a0001c0001t0011g0144 a0001c0001t0011g0152 a0001c0001t0011g0165 a0001c0001t0011g0189 a0001c0001t0014g0004 a0001c0001t0014g0097 a0001c0001t0014g0106 a0001c0001t0014g0130 a0001c0001t0014g0135 a0001c0001t0015g0086 a0001c0001t0015g0096 a0001c0001t0015g0117 a0001c0001t0015g0119 a0001c0001t0016g0008 a0001c0001t0016g0009 a0001c0001t0016g0010 a0001c0001t0016g0011 a0001c0001t0016g0018 a0001c0001t0018g0125 a0001c0001t0018g0145 a0001c0001t0021g0116 a0001c0001t0028g0092 a0001c0001t0028g0112 a0001c0001t0029g0082 a0001c0001t0032g0114 a0001c0001t0039g0186 a0001c0001t0040g0200 a0001c0001t0041g0105 a0001c0001t0042g0110 a0001c0001t0043g0120 a0001c0001t0045g0098 a0001c0001t0048g0107 a0001c0001t0051g0171 a0001c0001t0052g0184 a0001c0001t0053g0185 a0001c0001t0061g0187 a0001c0001t0063g0099 a0001c0001t0066g0005 a0001c0001t0067g0017 a0001c0001t0068g0012 a0001c0001t0077g0195 a0001c0002t0008g0143 a0001c0002t0008g0147 a0001c0002t0008g0148 a0001c0002t0008g0149 a0001c0002t0020g0019 a0001c0002t0022g0199 a0001c0002t0026g0007 a0001c0002t0026g0020 a0001c0002t0027g0014 a0001c0002t0030g0153 a0001c0002t0046g0108 a0001c0003t0017g0122 a0001c0003t0019g0146 a0001c0003t0025g0015 a0001c0003t0058g0207 a0001c0004t0031g0126 a0001c0004t0038g0016 a0001c0007t0010g0109 a0001c0012t0021g0179 a0002c0013t0035g0226 a0003c0010t0044g0087	129	362	0.3564	-30	c.-49 others(41): Show c.-4956_-4927delATATATATATATATATATATATATATATAT	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding		4323		chr3	TogoVar
ST6GAL1_chr3_186925526_187083553	187053742	AGCTTTGT others(23): Show AGCTTTGTTCTTTTGGATTAGGATTGTCTTG	A A	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	362	0.0028	-30	c.705 others(47): Show c.705+2399_705+2428delTTTGTTCTTTTGGATTAGGATTGTCTTG GC	ST6GAL1	ENSG00000073849.16	transcript	ENST00000169298.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
ST6GAL2_chr2_106796600_106891167	106810663	TGGAGTAG others(23): Show TGGAGTAGGGCGTGCAGTGGCTCACGCCTGG	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01891.hp2 HG02257.hp1 others(5): Show HG01167.hp1 HG01891.hp2 HG02257.hp1 HG02572.hp1 HG02965.hp2 HG02970.hp1 HG03130.hp1 HG03516.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0016 a0002c0007 a0004c0011 a0001c0016 a0002c0007 a0004c0011	a0001c0016t0070 a0002c0007t0087 a0002c0007t0106 others(2): Show a0001c0016t0070 a0002c0007t0087 a0002c0007t0106 a0004c0011t0026 a0004c0011t0089	a0001c0016t0070g0163 a0002c0007t0087g0013 a0002c0007t0106g0014 others(5): Show a0001c0016t0070g0163 a0002c0007t0087g0013 a0002c0007t0106g0014 a0004c0011t0026g0330 a0004c0011t0026g0331 a0004c0011t0026g0333 a0004c0011t0026g0334 a0004c0011t0089g0295	8	372	0.0215	-30	c.131 others(49): Show c.1319-3744_1319-3715delCCAGGCGTGAGCCACTGCACGCCCTA CTCC	ST6GAL2	ENSG00000144057.16	transcript	ENST00000409382.8	protein_coding	5/5			chr2	TogoVar
ST6GALNAC4_chr9_127902886_127922041	127916609	GGAATCCA others(23): Show GGAATCCAACCCCTTGACGTCTCCAAACACC	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0070 a0001c0001t0011g0070	1	428	0.0023	-30	c.-75 others(45): Show c.-75-145_-75-116delGGTGTTTGGAGACGTCAAGGGGTTGGATTC	ST6GALNAC4	ENSG00000136840.19	transcript	ENST00000335791.10	protein_coding	1/5			chr9	TogoVar
ST8SIA1_chr12_22188391_22339707	22321000	AAAGAAGA others(23): Show AAAGAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02698.hp2 HG01169.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0133 a0001c0002t0011 a0001c0001t0133 a0001c0002t0011	a0001c0001t0133g0250 a0001c0002t0011g0268 a0001c0001t0133g0250 a0001c0002t0011g0268	2	282	0.0071	-30	c.236 others(49): Show c.236+12967_236+12996delCTTTCTTTCTTTCTTTCTTTCTTTCT TCTT	ST8SIA1	ENSG00000111728.11	transcript	ENST00000396037.9	protein_coding	1/4			chr12	TogoVar
ST8SIA3_chr18_57347557_57373931	57370400	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01243.hp2 HG00735.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0002	2	424	0.0047	-30	c.10 others(43): Show c.10124_*10153delACACACACACACACACACACACACACACAC	ST8SIA3	ENSG00000177511.6	transcript	ENST00000324000.4	protein_coding		1470		chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46739900	TCTGGGCA others(23): Show TCTGGGCAAGTATGAAGAGACAGCCCAGCTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0318 a0001c0001t0008g0318	1	362	0.0028	-30	c.131 others(49): Show c.131+16448_131+16477delGAGCTGGGCTGTCTCTTCATACTTGC CCAG	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17333689	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	296	0.0034	-30	c.378 others(47): Show c.378-2167_378-2138delAATATATATATATATATATATATATATA TA	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	4/7			chr10	TogoVar
STAG1_chr3_136331236_136757378	136430806	GACACACA others(23): Show GACACACACACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00738.hp2 HG01106.hp1 others(14): Show HG00735.hp2 HG00738.hp2 HG01106.hp1 HG01243.hp2 HG01433.hp2 HG01517.hp1 HG02015.hp2 HG02559.hp1 HG02897.hp2 HG03486.hp1 HG03579.hp1 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18906.hp2 NA19240.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0016 a0001c0002t0005 a0001c0002t0012 others(1): Show a0001c0001t0016 a0001c0002t0005 a0001c0002t0012 a0001c0006t0005	a0001c0001t0016g0236 a0001c0002t0005g0131 a0001c0002t0005g0175 others(14): Show a0001c0001t0016g0236 a0001c0002t0005g0131 a0001c0002t0005g0175 a0001c0002t0005g0176 a0001c0002t0005g0177 a0001c0002t0005g0179 a0001c0002t0005g0180 a0001c0002t0005g0182 a0001c0002t0005g0183 a0001c0002t0005g0184 a0001c0002t0005g0185 a0001c0002t0005g0186 a0001c0002t0005g0189 a0001c0002t0005g0235 a0001c0002t0005g0237 a0001c0002t0012g0181 a0001c0006t0005g0178	17	240	0.0708	-30	c.165 others(49): Show c.1650+2720_1650+2749delGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	16/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136702101	GAGAGAGA others(23): Show GAGAGAGAGAGAGAGAGAGAGACAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp2 NA19240.hp1 HG03139.hp2 HG03486.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125	3	240	0.0125	-30	c.-84 others(49): Show c.-84+50064_-84+50093delGTCTCTCTGTCTCTCTCTCTCTCTCT CTCT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	1/33			chr3	TogoVar
STAMBP_chr2_73823961_73872168	73834218	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0054 a0001c0002t0006g0054	1	368	0.0027	-30	c.203 others(47): Show c.203+3161_203+3190delAAAAAAAAAAAAAAAAAATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834220	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02572.hp2 HG02818.hp2 others(2): Show HG01884.hp2 HG02572.hp2 HG02818.hp2 HG03209.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0002t0006 a0001c0005t0003 a0001c0002t0003 a0001c0002t0006 a0001c0005t0003	a0001c0002t0003g0056 a0001c0002t0006g0005 a0001c0002t0006g0035 others(1): Show a0001c0002t0003g0056 a0001c0002t0006g0005 a0001c0002t0006g0035 a0001c0005t0003g0055	5	368	0.0136	-30	c.203 others(47): Show c.203+3163_203+3192delAAAAAAAAAAAAAAAATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834222	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19003.hp1 NA19084.hp2 NA19001.hp1 NA19003.hp1 NA19084.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0044 a0001c0002t0003g0053 a0001c0002t0003g0059 a0001c0002t0003g0044 a0001c0002t0003g0053 a0001c0002t0003g0059	3	368	0.0082	-30	c.203 others(47): Show c.203+3165_203+3194delAAAAAAAAAAAAAATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834224	AAAAAAAA others(23): Show AAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19083.hp2 NA20300.hp1 HG02055.hp2 NA19083.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0046 a0001c0002t0003g0041 a0001c0002t0003g0042 a0001c0002t0003g0046	3	368	0.0082	-30	c.203 others(47): Show c.203+3167_203+3196delAAAAAAAAAAAATATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834228	AAAAAAAA others(23): Show AAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	368	0.0027	-30	c.203 others(47): Show c.203+3171_203+3200delAAAAAAAATATATATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834230	AAAAAAAA others(23): Show AAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0343 a0001c0001t0047g0343	1	368	0.0027	-30	c.203 others(47): Show c.203+3173_203+3202delAAAAAATATATATATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834232	AAAAAATA others(23): Show AAAAAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0339 a0001c0001t0006g0339	1	368	0.0027	-30	c.203 others(47): Show c.203+3175_203+3204delAAAATATATATATATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAMBP_chr2_73823961_73872168	73834236	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0222 a0001c0001t0018g0222	1	368	0.0027	-30	c.203 others(47): Show c.203+3199_203+3228delTATATATATATATATATATATATATATA TA	STAMBP	ENSG00000124356.17	transcript	ENST00000394070.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
STAP2_chr19_4319043_4343827	4321340	GGAGGGGA others(23): Show GGAGGGGAATAGCTGGGACTGAGGAGTATCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG02615.hp1 HG02818.hp2 others(3): Show HG00621.hp1 HG02615.hp1 HG02818.hp2 HG03209.hp1 HG03471.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0087 others(3): Show a0001c0003t0001g0079 a0001c0003t0001g0081 a0001c0003t0001g0087 a0001c0003t0001g0154 a0001c0003t0001g0155 a0002c0002t0001g0005	6	388	0.0155	-30	c.27 others(41): Show c.2763_*2792delAGATACTCCTCAGTCCCAGCTATTCCCCTC	STAP2	ENSG00000178078.12	transcript	ENST00000594605.6	protein_coding		2702		chr19	TogoVar
STARD6_chr18_54319492_54362858	54359760	GTACTGAG others(23): Show GTACTGAGGTAGACAGGGATTCTCTCAATTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	350	0.0029	-30	c.-20 others(41): Show c.-2087_-2058delAAATTGAGAGAATCCCTGTCTACCTCAGTA	STARD6	ENSG00000174448.9	transcript	ENST00000307844.4	protein_coding		1903		chr18	TogoVar
STAU1_chr20_49108339_49193334	49108514	ACACACAC others(23): Show ACACACACACACACACACACACCCCCCCCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG02976.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0345 a0001c0001t0001g0256 a0001c0001t0001g0345	2	366	0.0055	-30	c.63 others(41): Show c.6334_*6363delGGGGGGGGGGTGTGTGTGTGTGTGTGTGTG	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4824		chr20	TogoVar
STIM1_chr11_3850664_4098208	3895721	TCTTTCTT others(23): Show TCTTTCTTTCTTTCTTTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	300	0.0033	-30	c.139 others(49): Show c.139+39316_139+39345delTCTTTCTTTCTTTTTCTTTCTTCCTT CCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM1_chr11_3850664_4098208	3895725	TCTTTCTT others(23): Show TCTTTCTTTCTTTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0198 a0001c0001t0011g0198	1	300	0.0033	-30	c.139 others(49): Show c.139+39320_139+39349delTCTTTCTTTTTCTTTCTTCCTTCCTT CCTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STIM2_chr4_26855841_27030381	26885821	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00423.hp2 others(115): Show HG00099.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00621.hp2 HG00642.hp1 HG00738.hp2 HG00741.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18612.hp2 NA18906.hp1 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18961.hp1 NA18965.hp1 NA18970.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0045 a0001c0004t0039 a0001c0006t0003	a0001c0001t0001g0020 a0001c0001t0001g0306 a0001c0001t0001g0319 others(114): Show a0001c0001t0001g0020 a0001c0001t0001g0306 a0001c0001t0001g0319 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0207 a0001c0001t0002g0277 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0003g0002 a0001c0001t0003g0111 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0164 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0188 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0276 a0001c0001t0003g0334 a0001c0001t0005g0003 a0001c0001t0005g0014 a0001c0001t0005g0291 a0001c0001t0005g0300 a0001c0001t0005g0301 a0001c0001t0007g0278 a0001c0001t0009g0216 a0001c0001t0009g0328 a0001c0001t0012g0215 a0001c0001t0012g0222 a0001c0001t0013g0217 a0001c0001t0013g0218 a0001c0001t0013g0219 a0001c0001t0017g0185 a0001c0001t0017g0186 a0001c0001t0017g0187 a0001c0001t0018g0112 a0001c0001t0018g0171 a0001c0001t0018g0275 a0001c0001t0020g0004 a0001c0001t0020g0294 a0001c0001t0022g0302 a0001c0001t0022g0318 a0001c0001t0023g0160 a0001c0001t0024g0308 a0001c0001t0024g0309 a0001c0001t0025g0220 a0001c0001t0028g0284 a0001c0001t0030g0195 a0001c0001t0031g0009 a0001c0001t0032g0298 a0001c0001t0035g0289 a0001c0001t0036g0016 a0001c0001t0043g0312 a0001c0001t0045g0183 a0001c0004t0039g0161 a0001c0006t0003g0174	118	336	0.3512	-30	c.151 others(49): Show c.151+24476_151+24505delATATATATATATATATATATATATAT ATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26927829	AATTATAT others(23): Show AATTATATAAATTATATATTAATATATAATT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01106.hp2 HG01255.hp2 others(11): Show HG00733.hp1 HG01106.hp2 HG01255.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG03041.hp1 HG03130.hp1 HG03453.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 others(5): Show a0001c0001t0010 a0001c0001t0019 a0001c0001t0027 a0001c0002t0009 a0001c0002t0013 a0001c0002t0019 a0001c0002t0023 a0001c0002t0026	a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 others(11): Show a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0105 a0001c0001t0010g0106 a0001c0001t0019g0150 a0001c0001t0027g0104 a0001c0002t0009g0103 a0001c0002t0009g0114 a0001c0002t0009g0115 a0001c0002t0009g0149 a0001c0002t0013g0099 a0001c0002t0019g0107 a0001c0002t0023g0155 a0001c0002t0026g0102	14	336	0.0417	-30	c.282 others(47): Show c.282+8225_282+8254delTATTATATAAATTATATATTAATATATA AT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26970217	ATATATGT others(23): Show ATATATGTATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18970.hp2 NA18985.hp1 others(2): Show NA18953.hp1 NA18970.hp2 NA18985.hp1 NA19085.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0005g0291 others(2): Show a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0005g0291 a0001c0001t0005g0300 a0001c0001t0005g0301	5	336	0.0149	-30	c.397 others(49): Show c.397+12495_397+12524delATGTATATATATATATATATATATAT GTAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

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