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
STX8_chr17_9245471_9580820	9535424	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	188	0.0053	27	c.323 others(44): Show c.323+9747_323+9748insAAAAAAAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	4/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9546590	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0131 a0001c0004t0001g0131	1	188	0.0053	27	c.213 others(44): Show c.213-1309_213-1308insAAAAAAAAAAAAAAAAAAAAAAAAAAA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	3/7			chr17	TogoVar
STX8_chr17_9245471_9580820	9559760	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0041 a0001c0003t0001g0041	1	188	0.0053	27	c.118 others(44): Show c.118-2233_118-2232insAAAAATATATATATATATATATATATA	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	2/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108747110	G G	GCCGCGCT others(20): Show GCCGCGCTCCCCACTCCTCCGCTCCCGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00735.hp1 others(41): Show HG00140.hp1 HG00280.hp2 HG00735.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01346.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG02109.hp1 HG02257.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03669.hp1 HG04115.hp2 HG04204.hp1 NA18952.hp1 NA18998.hp2 NA19030.hp1 NA19043.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(36): Show a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0194 a0003c0006t0001g0192	44	334	0.1317	27	c.49+ others(40): Show c.49+339_49+340insCTCCGCTCCCGTCCGCGCTCCCCACTC	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP3_chr1_108741674_108814523	108772169	G G	GATATCTA others(20): Show GATATCTATATATCATATATAAATACAT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG04204.hp1 HG03669.hp1 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0189 a0003c0006t0001g0192 a0001c0001t0001g0189 a0003c0006t0001g0192	2	334	0.0060	27	c.439 others(42): Show c.439-488_439-487insATATCATATATAAATACATATATCTAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
STXBP5L_chr3_120903205_121429761	121359983	T T	TATATAAT others(20): Show TATATAATATATATATTATTACTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(113): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02145.hp1 HG02165.hp1 HG02273.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03139.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG04199.hp1 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18947.hp1 NA18954.hp1 NA18957.hp2 NA18966.hp2 NA18969.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19056.hp1 NA19060.hp2 NA19064.hp2 NA19078.hp1 NA19084.hp2 NA19085.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0001c0005 a0001c0006 others(4): Show a0001c0001 a0001c0005 a0001c0006 a0002c0002 a0003c0003 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0001t0017 a0001c0001t0025 a0001c0001t0029 a0001c0001t0032 a0001c0005t0003 a0001c0006t0003 a0002c0002t0020 a0003c0003t0001 a0003c0003t0005 a0003c0003t0013 a0003c0003t0028 a0006c0011t0001 a0007c0010t0006	a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0136 others(113): Show a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0219 a0001c0001t0001g0238 a0001c0001t0001g0241 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0003g0001 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0156 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0188 a0001c0001t0003g0192 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0289 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0224 a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0004g0230 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0237 a0001c0001t0004g0239 a0001c0001t0004g0240 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0005g0195 a0001c0001t0006g0211 a0001c0001t0006g0223 a0001c0001t0006g0228 a0001c0001t0006g0229 a0001c0001t0006g0243 a0001c0001t0015g0215 a0001c0001t0015g0217 a0001c0001t0015g0218 a0001c0001t0017g0285 a0001c0001t0025g0231 a0001c0001t0029g0170 a0001c0001t0032g0191 a0001c0005t0003g0151 a0001c0005t0003g0152 a0001c0006t0003g0129 a0001c0006t0003g0183 a0002c0002t0020g0158 a0003c0003t0001g0168 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0198 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0204 a0003c0003t0001g0205 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0005g0199 a0003c0003t0013g0155 a0003c0003t0013g0166 a0003c0003t0013g0167 a0003c0003t0028g0203 a0006c0011t0001g0214 a0007c0010t0006g0236	116	290	0.4000	27	c.217 others(48): Show c.2177-18693_2177-18667dupTATTATTACTATATAATATAATAT ATA	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STXBP5L_chr3_120903205_121429761	121359993	A A	ATATATTA others(20): Show ATATATTATTACTATATAATATAATATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01884.hp1 HG02109.hp1 others(3): Show HG01099.hp1 HG01884.hp1 HG02109.hp1 HG02630.hp1 HG02818.hp1 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0003 a0005c0012t0003 a0001c0001t0003 a0005c0012t0003	a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 others(3): Show a0001c0001t0003g0135 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0216 a0005c0012t0003g0150	6	290	0.0207	27	c.217 others(48): Show c.2177-18697_2177-18696insGTATATTATTACTATATAATATAA TAT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	20/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
STYXL1_chr7_75991342_76053000	76017866	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0337 a0001c0001t0001g0337	1	356	0.0028	27	c.308 others(44): Show c.308-3980_308-3979insTTTTTTTTTTTTTTTTTTTTTTTTTTT	STYXL1	ENSG00000127952.17	transcript	ENST00000359697.8	protein_coding	4/8			chr7	TogoVar
SUCLA2_chr13_47937656_48006273	47940931	C C	CGCACCTG others(20): Show CGCACCTGTAATCCCAGCACTTTTAATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	358	0.0028	27	c.24 others(38): Show c.2439_*2440insAATTAAAAGTGCTGGGATTACAGGTGC	SUCLA2	ENSG00000136143.16	transcript	ENST00000646932.1	protein_coding		1724		chr13	TogoVar
SUCLG2_chr3_67369719_67659612	67422473	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02165.hp2 NA19004.hp2 HG02132.hp2 HG02165.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0126 a0001c0001t0001g0198 a0001c0001t0004g0270 a0001c0001t0001g0126 a0001c0001t0001g0198 a0001c0001t0004g0270	3	280	0.0107	27	c.106 others(48): Show c.1063-21649_1063-21623dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	9/10			chr3	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(20): Show GATTATAAAATATAATTATATATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00741.hp2 others(16): Show HG00280.hp2 HG00544.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp1 HG01433.hp1 HG01516.hp2 HG01978.hp2 HG02071.hp2 HG02572.hp1 HG02602.hp1 HG02698.hp1 HG03831.hp1 HG04199.hp2 HG04228.hp2 NA18946.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0022 a0001c0001t0023 others(1): Show a0001c0001t0003 a0001c0001t0022 a0001c0001t0023 a0001c0004t0003	a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0182 others(16): Show a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0250 a0001c0001t0003g0264 a0001c0001t0003g0265 a0001c0001t0003g0266 a0001c0001t0003g0267 a0001c0001t0022g0233 a0001c0001t0023g0180 a0001c0004t0003g0226	19	268	0.0709	27	c.75 others(38): Show c.7501_*7502insATTATAAAATATAATTATATATTATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUFU_chr10_102498972_102638535	102638062	T T	TACTAATA others(20): Show TACTAATATATTATATATGATCATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	268	0.0037	27	c.79 others(38): Show c.7907_*7908insACTAATATATTATATATGATCATATTA	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4528		chr10	TogoVar
SUGP2_chr19_18985893_19038517	19030723	G G	GTTCATTG others(20): Show GTTCATTGAGCTAAAACTCAACCTCTAC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	302	0.0033	27	c.121 others(42): Show c.121+227_121+228insGTAGAGGTTGAGTTTTAGCTCAATGAA	SUGP2	ENSG00000064607.17	transcript	ENST00000452918.7	protein_coding	2/10			chr19	TogoVar
SULF2_chr20_47652406_47790481	47731182	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	364	0.0028	27	c.415 others(44): Show c.415+5520_415+5521insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SULF2	ENSG00000196562.16	transcript	ENST00000688720.1	protein_coding	3/20			chr20	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(20): Show CTTTTCTTTCTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG06807.hp1 HG02735.hp1 HG06807.hp1	a0001 a0004 a0001 a0004	a0001c0006 a0004c0020 a0001c0006 a0004c0020	a0001c0006t0001 a0004c0020t0001 a0001c0006t0001 a0004c0020t0001	a0001c0006t0001g0020 a0004c0020t0001g0181 a0001c0006t0001g0020 a0004c0020t0001g0181	2	376	0.0053	27	c.214 others(42): Show c.214+280_214+281insCTTTCTTTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT2B1_chr19_48547172_48604423	48576359	C C	CTTTTCTT others(20): Show CTTTTCTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	376	0.0027	27	c.214 others(42): Show c.214+280_214+281insCTTTTTTTTTTTTTTTTTTTTTTTTTT	SULT2B1	ENSG00000088002.12	transcript	ENST00000201586.7	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SULT6B1_chr2_37162820_37193670	37193643	A A	AAGAAGAA others(20): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	354	0.0028	27	c.-50 others(38): Show c.-5004_-5003insCCTTCTTCTTCTTCTTCTTCTTCTTCT	SULT6B1	ENSG00000138068.12	transcript	ENST00000535679.6	protein_coding		4974		chr2	TogoVar
SUMO2_chr17_75160586_75187959	75180392	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0220 a0001c0001t0015g0220	1	398	0.0025	27	c.153 others(42): Show c.153+638_153+664dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SUMO2	ENSG00000188612.12	transcript	ENST00000420826.7	protein_coding	2/3			chr17	TogoVar
SUN5_chr20_32978775_33009433	33001507	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	382	0.0026	27	c.212 others(42): Show c.212-230_212-229insGAAAGAAAGAAAGAAAGAAAGAAAGAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUN5_chr20_32978775_33009433	33001563	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01071.hp2 NA18997.hp1 HG00323.hp2 HG01071.hp2 NA18997.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0263 a0002c0002t0001g0059 a0001c0001t0001g0100 a0001c0001t0001g0263 a0002c0002t0001g0059	3	382	0.0079	27	c.212 others(42): Show c.212-286_212-285insGAAAGAAAGAAAGAAAGAAAGAAAGAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUOX_chr12_55992276_56010525	55996003	A A	ATATATAT others(20): Show ATATATATATTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0012 a0001c0002t0001g0012	1	422	0.0024	27	c.-14 others(38): Show c.-1456_-1455insTATATATATTTTTTTTTTTTTTTTTTT	SUOX	ENSG00000139531.13	transcript	ENST00000266971.8	protein_coding		1272		chr12	TogoVar
SUPT3H_chr6_44821726_45382934	45204250	A A	AAAGAAGA others(20): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00733.hp2 HG00735.hp1 others(21): Show HG00099.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01071.hp1 HG01074.hp1 HG01258.hp2 HG01934.hp1 HG01993.hp1 HG02015.hp1 HG02074.hp1 HG02572.hp1 HG02683.hp1 HG02698.hp2 HG03540.hp2 NA18948.hp1 NA18972.hp2 NA19010.hp2 NA19080.hp2 NA19085.hp2 NA19086.hp1 NA19090.hp2 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020	a0001c0001t0001g0065 a0001c0001t0001g0192 a0001c0001t0001g0203 others(21): Show a0001c0001t0001g0065 a0001c0001t0001g0192 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0229 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0011g0160 a0001c0001t0011g0161 a0001c0001t0013g0059 a0001c0001t0019g0214 a0001c0001t0020g0246	24	262	0.0916	27	c.102 others(46): Show c.102-98271_102-98245dupCTTCTTCTTCTTCTTCTTCTTCTTCT T	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD5_chr3_33145043_33223810	33183930	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03688.hp2 HG03669.hp2 HG03688.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0019 a0003c0003t0004 a0003c0003t0019	a0003c0003t0004g0138 a0003c0003t0019g0117 a0003c0003t0004g0138 a0003c0003t0019g0117	2	404	0.0050	27	c.410 others(44): Show c.410-8857_410-8856insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SUSD5	ENSG00000173705.9	transcript	ENST00000309558.8	protein_coding	3/4			chr3	TogoVar
SV2B_chr15_91095257_91307565	91099104	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0074 a0001c0001t0074	a0001c0001t0074g0203 a0001c0001t0074g0203	1	214	0.0047	27	c.-16 others(38): Show c.-1651_-1650insAAAAAAAAAAAAAAAAAAAAAAATAAT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding		1152		chr15	TogoVar
SV2B_chr15_91095257_91307565	91270768	T T	TTGAATCC others(20): Show TTGAATCCTGTGGATGATGGGGGGATGG	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0206 a0001c0001t0076g0206	1	214	0.0047	27	c.137 others(46): Show c.1373+2215_1373+2241dupTGGTGAATCCTGTGGATGATGGGGGG A	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SVEP1_chr9_110360248_110584741	110434666	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01261.hp1 HG02572.hp2 others(2): Show HG01109.hp2 HG01261.hp1 HG02572.hp2 HG02630.hp1 HG03098.hp1	a0026 a0032 a0045 others(1): Show a0026 a0032 a0045 a0076	a0026c0113 a0026c0148 a0032c0034 others(2): Show a0026c0113 a0026c0148 a0032c0034 a0045c0049 a0076c0088	a0026c0113t0004 a0026c0148t0004 a0032c0034t0005 others(2): Show a0026c0113t0004 a0026c0148t0004 a0032c0034t0005 a0045c0049t0004 a0076c0088t0004	a0026c0113t0004g0105 a0026c0148t0004g0355 a0032c0034t0005g0120 others(2): Show a0026c0113t0004g0105 a0026c0148t0004g0355 a0032c0034t0005g0120 a0045c0049t0004g0075 a0076c0088t0004g0069	5	362	0.0138	27	c.488 others(44): Show c.4889-161_4889-160insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	29/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110572789	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0246 a0003c0004t0001g0246	1	362	0.0028	27	c.531 others(44): Show c.531+6197_531+6223dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	1/47			chr9	TogoVar
SVOPL_chr7_138589285_138706362	138676542	G G	GAGTCCTC others(20): Show GAGTCCTCATGGCCTAATCACCTCTTAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 HG02630.hp1 others(3): Show HG02055.hp2 HG02145.hp1 HG02630.hp1 HG03130.hp1 HG03139.hp1 NA18906.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0025 a0002c0003 a0001c0001 a0001c0025 a0002c0003	a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0025t0001 a0002c0003t0001 a0002c0003t0008	a0001c0001t0001g0011 a0001c0001t0001g0148 a0001c0001t0001g0151 others(3): Show a0001c0001t0001g0011 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0025t0001g0293 a0002c0003t0001g0288 a0002c0003t0008g0002	6	360	0.0167	27	c.174 others(44): Show c.174+1891_174+1892insTTAAGAGGTGATTAGGCCATGAGGACT	SVOPL	ENSG00000157703.16	transcript	ENST00000674285.1	protein_coding	3/15			chr7	TogoVar
SWT1_chr1_185152167_185296781	185292366	C C	CTTTTTCC others(20): Show CTTTTTCCCTCTCCCTTCTTTGTTGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG02071.hp2 HG02074.hp1 others(15): Show HG00438.hp1 HG02071.hp2 HG02074.hp1 HG03654.hp1 NA18949.hp2 NA18962.hp1 NA18964.hp2 NA18967.hp2 NA18969.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp2 NA19006.hp2 NA19009.hp2 NA19011.hp1 NA19072.hp1 NA19074.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 others(15): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0122 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0291	18	326	0.0552	27	c.15 others(38): Show c.1563_*1564insTTTTTCCCTCTCCCTTCTTTGTTGCTT	SWT1	ENSG00000116668.13	transcript	ENST00000367500.9	protein_coding		586		chr1	TogoVar
SYBU_chr8_109568978_109649822	109645626	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0154	1	324	0.0031	27	c.-96 others(36): Show c.-968_-967insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYBU	ENSG00000147642.17	transcript	ENST00000276646.14	protein_coding		805		chr8	TogoVar
SYCE3_chr22_50546112_50567919	50562131	C C	CGGGGTGA others(20): Show CGGGGTGAGGCGGGGTGAGGAGGGGTGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18994.hp1 NA18995.hp1 others(1): Show NA18973.hp1 NA18994.hp1 NA18995.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0037 a0001c0001t0001g0137 a0001c0001t0001g0138	4	414	0.0097	27	c.-1+ others(40): Show c.-1+726_-1+727insTCACCCCTCCTCACCCCGCCTCACCCC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar
SYCE3_chr22_50546112_50567919	50562596	A A	AGGCGGGG others(20): Show AGGCGGGGTGAGGGGTGGGGGGTGAGGC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0185 a0002c0002t0001g0185	1	414	0.0024	27	c.-1+ others(40): Show c.-1+261_-1+262insGCCTCACCCCCCACCCCTCACCCCGCC	SYCE3	ENSG00000217442.4	transcript	ENST00000406915.4	protein_coding	1/2			chr22	TogoVar
SYCP2L_chr6_10882052_10979309	10907892	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03579.hp1 HG01243.hp2 HG03579.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0309 a0002c0003t0002g0303 a0002c0003t0001g0309 a0002c0003t0002g0303	2	354	0.0057	27	c.819 others(42): Show c.819+226_819+227insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	10/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	426	0.0024	27	c.236 others(42): Show c.236-828_236-827insAAATATATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	426	0.0024	27	c.236 others(42): Show c.236-828_236-827insAAAAATATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18946.hp2 HG01175.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0151 a0001c0001t0001g0152	2	426	0.0047	27	c.236 others(42): Show c.236-828_236-827insAAAAAAATATATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03540.hp1 NA18948.hp2 HG02896.hp2 HG03540.hp1 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0185 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0185	3	426	0.0070	27	c.236 others(42): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	426	0.0024	27	c.236 others(42): Show c.236-828_236-827insAAAAAAAAAAAAAAATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(20): Show ATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	426	0.0024	27	c.236 others(42): Show c.236-828_236-827insAAAAAAAAAAAAAAAAATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90802815	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02809.hp1 HG02572.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0050 a0001c0001t0001 a0001c0001t0050	a0001c0001t0001g0371 a0001c0001t0050g0370 a0001c0001t0001g0371 a0001c0001t0050g0370	2	376	0.0053	27	c.-42 others(42): Show c.-42+934_-42+935insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32572255	T T	TTCCTTCC others(20): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	184	0.0054	27	c.774 others(46): Show c.774+24418_774+24419insGGAAGGAAGGAAGGAAGGAAGGAAGG A	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	7/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	33028670	G G	GTGGTGGT others(20): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01258.hp2 HG01261.hp2 others(4): Show HG00735.hp2 HG01258.hp2 HG01261.hp2 HG02056.hp1 HG02698.hp2 HG02976.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0026 a0001c0001t0077 a0001c0005t0029	a0001c0001t0002g0072 a0001c0001t0003g0070 a0001c0001t0006g0012 others(4): Show a0001c0001t0002g0072 a0001c0001t0003g0070 a0001c0001t0006g0012 a0001c0001t0011g0109 a0001c0001t0026g0171 a0001c0001t0077g0013 a0001c0005t0029g0116	7	184	0.0380	27	c.-16 others(48): Show c.-162-21847_-162-21846insTCACCACCACCACCACCACCACCA CCA	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	1/13			chr22	TogoVar
SYNC_chr1_32674906_32707770	32687833	A A	AATTATTA others(20): Show AATTATTATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19074.hp1 NA19068.hp2 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0131 a0002c0002t0003g0215 a0001c0001t0001g0131 a0002c0002t0003g0215	2	318	0.0063	27	c.123 others(46): Show c.1234-3478_1234-3452dupAATAATAATAATAATAATAATAATAA T	SYNC	ENSG00000162520.15	transcript	ENST00000409190.8	protein_coding	2/4			chr1	TogoVar
SYNE1_chr6_152116687_152642362	152179673	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02132.hp2 HG02083.hp2 HG02132.hp2	a0020 a0020	a0020c0004 a0020c0004	a0020c0004t0006 a0020c0004t0006	a0020c0004t0006g0159 a0020c0004t0006g0160 a0020c0004t0006g0159 a0020c0004t0006g0160	2	174	0.0115	27	c.234 others(46): Show c.23460+436_23460+462dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	129/145			chr6	TogoVar
SYNE1_chr6_152116687_152642362	152574296	A A	AATATATA others(20): Show AATATATATAAATATATATATATATTAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0086 a0086	a0086c0165 a0086c0165	a0086c0165t0018 a0086c0165t0018	a0086c0165t0018g0174 a0086c0165t0018g0174	1	174	0.0058	27	c.68- others(44): Show c.68-34276_68-34275insATAATATATATATATATTTATATATAT	SYNE1	ENSG00000131018.25	transcript	ENST00000367255.10	protein_coding	3/145			chr6	TogoVar
SYNE2_chr14_63848004_64231433	63916057	T T	TTTTGCTT others(20): Show TTTTGCTTGTTGATGTCATGTGGAAGCA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03209.hp2 HG02572.hp2 HG03209.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0138 a0005c0013t0001g0139 a0005c0013t0001g0138 a0005c0013t0001g0139	2	150	0.0133	27	c.79+ others(42): Show c.79+6830_79+6831insTTTGCTTGTTGATGTCATGTGGAAGCA	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	2/115			chr14	TogoVar
SYNE2_chr14_63848004_64231433	64049429	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0001 a0005c0022t0001	a0005c0022t0001g0056 a0005c0022t0001g0056	1	150	0.0067	27	c.737 others(44): Show c.7378-178_7378-152dupAATAATAATAATAATAATAATAATAAT	SYNE2	ENSG00000054654.20	transcript	ENST00000555002.6	protein_coding	46/115		INFO_REALIGN_3_PRIME	chr14	TogoVar
SYNE3_chr14_95402266_95521650	95499856	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0061 a0003c0012t0061	a0003c0012t0061g0190 a0003c0012t0061g0190	1	384	0.0026	27	c.-15 others(46): Show c.-15+16739_-15+16740insAAAAAAAAAAAAAAAAAAAAAAAAAA A	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	1/17			chr14	TogoVar
SYNJ2BP_chr14_70361499_70422090	70420770	G G	GTCTTTTT others(20): Show GTCTTTTTAATCTCTCTTGTCTGCTTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	364	0.0028	27	c.-38 others(38): Show c.-3834_-3808dupTGAAGCAGACAAGAGAGATTAAAAAGA	SYNJ2BP	ENSG00000213463.5	transcript	ENST00000256366.6	protein_coding		3681		chr14	TogoVar
SYNPO2_chr4_118883854_119066247	118890697	T T	TCTCTCTC others(20): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0055 a0001c0017t0001g0055	1	310	0.0032	27	c.105 others(44): Show c.105+1556_105+1557insCTCTCTCTCTCTCTCTCTCTCTCTCTC	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4			chr4	TogoVar

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Search Results (Total: 7463 hits)