Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMYD3_chr1_245744347_246512279	245976305	A A	AGCCTAGG others(17): Show AGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02615.hp2 HG03225.hp1 HG00738.hp1 HG02615.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0126 a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0003t0001g0126	3	116	0.0259	24	c.532 others(43): Show c.532-46369_532-46368insCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976377	A A	AGCCTAGG others(17): Show AGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02970.hp1 HG01433.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0002 a0002c0004t0001 a0002c0003t0002 a0002c0004t0001	a0002c0003t0002g0131 a0002c0004t0001g0132 a0002c0003t0002g0131 a0002c0004t0001g0132	2	114	0.0175	24	c.532 others(43): Show c.532-46441_532-46440insCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976401	A A	AGCCCAGG others(17): Show AGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0149 a0002c0004t0001g0149	1	118	0.0085	24	c.532 others(43): Show c.532-46465_532-46464insCGGAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976405	C C	CAGGGAAA others(17): Show CAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0078 a0001c0001t0002g0078	1	111	0.0090	24	c.532 others(43): Show c.532-46492_532-46469dupAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976477	C C	CAGGGAAA others(17): Show CAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0123 a0002c0005t0001g0123	1	123	0.0081	24	c.532 others(43): Show c.532-46541_532-46540insAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976521	A A	AGCCTAGG others(17): Show AGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	118	0.0085	24	c.532 others(43): Show c.532-46585_532-46584insCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976837	T T	TAGGGAAA others(17): Show TAGGGAAAGCCATCGTCTCCGGCCC	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18522.hp2 HG02895.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0002 a0002c0005t0001 a0002c0003t0002 a0002c0005t0001	a0002c0003t0002g0129 a0002c0005t0001g0123 a0002c0003t0002g0129 a0002c0005t0001g0123	2	119	0.0168	24	c.532 others(43): Show c.532-46901_532-46900insGGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976905	A A	AGCCCAGG others(17): Show AGCCCAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA18522.hp2 HG01934.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0002 a0001c0002t0001 a0002c0003t0002	a0001c0002t0001g0025 a0002c0003t0002g0129 a0001c0002t0001g0025 a0002c0003t0002g0129	2	106	0.0189	24	c.532 others(43): Show c.532-46969_532-46968insCGGAGACGATGGCTTTCCCTGGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976981	C C	CAGGGAAA others(17): Show CAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19088.hp1 HG02015.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0039 a0001c0001t0002g0030 a0001c0001t0001g0039 a0001c0001t0002g0030	2	127	0.0157	24	c.532 others(43): Show c.532-47045_532-47044insAGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977025	A A	AGCCTAGG others(17): Show AGCCTAGGGAAAGCCATCGTCTCCG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG03130.hp2 HG01975.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0028 a0002c0004t0001g0117 a0001c0001t0002g0028 a0002c0004t0001g0117	2	98	0.0204	24	c.532 others(43): Show c.532-47089_532-47088insCGGAGACGATGGCTTTCCCTAGGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977029	C C	CAGGGAAA others(17): Show CAGGGAAAGCCATCGTCTCTAGCCT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0001 a0001c0006t0003g0001	1	118	0.0085	24	c.532 others(43): Show c.532-47093_532-47092insAGGCTAGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245977053	C C	CAGGGAAA others(17): Show CAGGGAAAGCCATCGTCTCCGGCCT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	99	0.0101	24	c.532 others(43): Show c.532-47117_532-47116insAGGCCGGAGACGATGGCTTTCCCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246023807	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	30	0.0333	24	c.532 others(43): Show c.532-93894_532-93871dupCACACACACACACACACACACACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246255927	A A	AAGATGGA others(17): Show AAGATGGACAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0099 a0002c0003t0001g0099	1	69	0.0145	24	c.531 others(43): Show c.531+71273_531+71274insATCTATCTATCTATCTGTCCATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02886.hp2 HG03491.hp2 others(1): Show HG02647.hp2 HG02886.hp2 HG03491.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0002 a0002c0005t0001	a0001c0001t0001g0003 a0001c0002t0001g0079 a0002c0003t0002g0122 others(1): Show a0001c0001t0001g0003 a0001c0002t0001g0079 a0002c0003t0002g0122 a0002c0005t0001g0113	4	52	0.0769	24	c.228 others(41): Show c.228+6953_228+6954insGTATATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481593	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02622.hp1 HG02717.hp2 HG02451.hp1 HG02622.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0001c0001t0001 a0001c0001t0002 a0001c0006t0001	a0001c0001t0001g0067 a0001c0001t0002g0063 a0001c0006t0001g0068 a0001c0001t0001g0067 a0001c0001t0002g0063 a0001c0006t0001g0068	3	124	0.0242	24	c.164 others(43): Show c.164+25460_164+25461insATATATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	75	0.0133	24	c.164 others(43): Show c.164+25446_164+25447insGTATATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02451.hp2 HG02486.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0001 a0002c0007t0001 a0002c0003t0001 a0002c0007t0001	a0002c0003t0001g0105 a0002c0007t0001g0135 a0002c0003t0001g0105 a0002c0007t0001g0135	2	107	0.0187	24	c.164 others(43): Show c.164+25432_164+25433insGTGTGTATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(17): Show TATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0107 a0002c0004t0001g0107	1	106	0.0094	24	c.164 others(43): Show c.164+25432_164+25433insGTGTATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481621	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	106	0.0094	24	c.164 others(43): Show c.164+25432_164+25433insGTATATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1794081	G G	GTGTACAT others(17): Show GTGTACATATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19078.hp1 NA18951.hp1 NA19078.hp1	a0010 a0014 a0010 a0014	a0010c0014 a0014c0016 a0010c0014 a0014c0016	a0010c0014t0006 a0014c0016t0002 a0010c0014t0006 a0014c0016t0002	a0010c0014t0006g0285 a0014c0016t0002g0281 a0010c0014t0006g0285 a0014c0016t0002g0281	2	295	0.0068	24	c.153 others(43): Show c.1537+5775_1537+5776insTATATACACATATATATATGTACA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1794081	G G	GTGTATAT others(17): Show GTGTATATATATATATGTGTATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp1 others(40): Show HG00099.hp1 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01099.hp2 HG01175.hp1 HG01255.hp1 HG01516.hp1 HG02132.hp2 HG02135.hp1 HG02602.hp2 HG03688.hp1 HG04115.hp2 HG04184.hp1 NA18747.hp2 NA18940.hp2 NA18944.hp1 NA18946.hp1 NA18947.hp2 NA18950.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18963.hp1 NA18974.hp1 NA18975.hp1 NA18978.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp1 NA18990.hp2 NA19012.hp1 NA19057.hp1 NA19058.hp1 NA19062.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA20905.hp1	a0002 a0010 a0013 others(2): Show a0002 a0010 a0013 a0014 a0015	a0002c0002 a0010c0014 a0013c0011 others(2): Show a0002c0002 a0010c0014 a0013c0011 a0014c0016 a0015c0019	a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 others(5): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0021 a0010c0014t0006 a0013c0011t0004 a0014c0016t0002 a0015c0019t0002 a0015c0019t0009	a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0276 others(38): Show a0002c0002t0002g0009 a0002c0002t0002g0011 a0002c0002t0002g0276 a0002c0002t0002g0279 a0002c0002t0002g0287 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0297 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0310 a0002c0002t0002g0313 a0002c0002t0002g0315 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0320 a0002c0002t0002g0322 a0002c0002t0002g0324 a0002c0002t0002g0325 a0002c0002t0002g0329 a0002c0002t0002g0330 a0002c0002t0002g0331 a0002c0002t0002g0335 a0002c0002t0002g0359 a0002c0002t0002g0365 a0002c0002t0003g0083 a0002c0002t0021g0295 a0010c0014t0006g0307 a0010c0014t0006g0308 a0013c0011t0004g0043 a0013c0011t0004g0050 a0014c0016t0002g0283 a0014c0016t0002g0312 a0014c0016t0002g0314 a0014c0016t0002g0328 a0014c0016t0002g0333 a0015c0019t0002g0302 a0015c0019t0009g0277	43	336	0.1280	24	c.153 others(43): Show c.1537+5775_1537+5776insTATATACACATATATATATATACA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03453.hp2 HG02965.hp2 HG03453.hp2	a0006 a0017 a0006 a0017	a0006c0005 a0017c0020 a0006c0005 a0017c0020	a0006c0005t0006 a0017c0020t0002 a0006c0005t0006 a0017c0020t0002	a0006c0005t0006g0351 a0017c0020t0002g0342 a0006c0005t0006g0351 a0017c0020t0002g0342	2	80	0.0250	24	c.153 others(43): Show c.1537+5751_1537+5752insAAAAAATATATATATATATATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1794105	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0005 a0006c0005t0005	a0006c0005t0005g0084 a0006c0005t0005g0084	1	79	0.0127	24	c.153 others(43): Show c.1537+5751_1537+5752insAAAAAAAAAATATATATATATATA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49978472	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG01258.hp1 others(7): Show HG01256.hp1 HG01256.hp2 HG01258.hp1 HG02523.hp2 HG02717.hp2 HG03927.hp1 NA18948.hp1 NA18951.hp2 NA19081.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0001 a0001c0001t0003 a0001c0001t0009	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0003g0001 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0003g0001 a0001c0001t0009g0001	10	164	0.0610	24	c.-45 others(35): Show c.-4588_-4587insATATATATATATATATATATATAT	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		4507		chr20	TogoVar
SNAI1_chr20_49977980_49993886	49991714	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02895.hp2 HG03540.hp2 others(3): Show HG02630.hp1 HG02895.hp2 HG03540.hp2 NA18939.hp1 NA18957.hp2 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 others(1): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0002c0002t0002	a0001c0001t0004g0003 a0001c0001t0008g0003 a0001c0001t0012g0003 others(1): Show a0001c0001t0004g0003 a0001c0001t0008g0003 a0001c0001t0012g0003 a0002c0002t0002g0008	6	46	0.1304	24	c.36 others(35): Show c.3658_*3659insAAAAAAAAAAAAAAAAAAAAAAAA	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01258.hp2 HG01934.hp2 others(12): Show HG01168.hp2 HG01258.hp2 HG01934.hp2 HG02056.hp1 HG03927.hp1 HG03927.hp2 NA18950.hp1 NA18967.hp1 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA19004.hp2 NA19007.hp1 NA19060.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0111 others(3): Show a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0111 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0154	15	62	0.2419	24	c.77- others(39): Show c.77-1072_77-1049dupAAAAAAAAAAAAAAAAAAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP25_chr20_10213830_10312418	10238905	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18906.hp2 HG03225.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0275 a0001c0002t0001g0333 a0001c0001t0001g0275 a0001c0002t0001g0333	2	272	0.0074	24	c.-64 others(43): Show c.-64+19930_-64+19953dupATAATAATAATAATAATAATAATA	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNAP91_chr6_83547885_83714101	83556340	G G	GGAGGGAG others(17): Show GGAGGGAGGGAGAGAGGGAGAGGGA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	211	0.0047	24	c.263 others(39): Show c.2632-96_2632-95insTCCCTCTCCCTCTCTCCCTCCCTC	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	28/29			chr6	TogoVar
SNAP91_chr6_83547885_83714101	83628222	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02074.hp1 HG02273.hp2 others(14): Show HG01978.hp2 HG02074.hp1 HG02273.hp2 HG02683.hp2 HG02717.hp2 HG03239.hp2 HG04199.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp2 NA18963.hp1 NA18978.hp2 NA18984.hp2 NA18995.hp1 NA19001.hp2 NA19060.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0100 a0001c0001t0001g0204 a0001c0001t0001g0273 others(14): Show a0001c0001t0001g0100 a0001c0001t0001g0204 a0001c0001t0001g0273 a0001c0001t0001g0313 a0001c0001t0002g0208 a0001c0001t0002g0246 a0001c0001t0002g0254 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0357 a0001c0002t0001g0195 a0001c0002t0001g0291 a0001c0002t0001g0300 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0002g0260	17	62	0.2742	24	c.766 others(41): Show c.766-4904_766-4881dupATATATATATATATATATATATAT	SNAP91	ENSG00000065609.15	transcript	ENST00000369694.7	protein_coding	8/29			chr6	TogoVar
SNCA_chr4_89719099_89842161	89802592	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03942.hp1 HG03490.hp1 HG03492.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0033 a0001c0001t0002 a0001c0001t0033	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0033g0049 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0033g0049	3	261	0.0115	24	c.306 others(43): Show c.306+19630_306+19653dupGAAAGAAAGAAAGAAAGAAAGAAA	SNCA	ENSG00000145335.17	transcript	ENST00000394991.8	protein_coding	4/5			chr4	TogoVar
SND1_chr7_127647194_128097593	127759099	T T	TAGATAGA others(17): Show TAGATAGATAGATAGATAGATAGGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0105 a0001c0001t0002g0105	1	259	0.0039	24	c.115 others(45): Show c.1152+37701_1152+37702insATAGATAGATAGATAGATAGGCAG	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127778178	C C	CTTATTTA others(17): Show CTTATTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	93	0.0108	24	c.115 others(45): Show c.1153-29295_1153-29272dupATTTATTTATTTATTTATTTATTT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	10/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SND1_chr7_127647194_128097593	127922199	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	116	0.0086	24	c.152 others(43): Show c.1528-6985_1528-6984insTTTTTTTTTTTTTTGTTTTGTTTT	SND1	ENSG00000197157.11	transcript	ENST00000354725.8	protein_coding	14/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00639.hp1 NA18973.hp2 NA19012.hp1 others(2): Show HG00639.hp1 NA18973.hp2 NA19012.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0045 a0001c0001t0013g0263 a0001c0001t0013g0266 others(1): Show a0001c0001t0013g0045 a0001c0001t0013g0263 a0001c0001t0013g0266 a0001c0001t0013g0268	5	288	0.0174	24	c.25 others(35): Show c.2517_*2518insTATATATATATATATATATATAAA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar
SNIP1_chr1_37529449_37559293	37535239	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(35): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00673.hp1 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02074.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp2 HG02738.hp2 HG03471.hp2 HG03710.hp2 HG03831.hp2 NA18612.hp2 NA18747.hp1 NA18952.hp2 NA18955.hp1 NA18957.hp2 NA18965.hp1 NA18968.hp2 NA18980.hp2 NA18984.hp1 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19010.hp2 NA19063.hp2 NA19064.hp2 NA19067.hp1 NA19082.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0082 others(1): Show a0001c0001t0002 a0001c0001t0019 a0001c0001t0082 a0001c0001t0083	a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 others(16): Show a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0141 a0001c0001t0002g0143 a0001c0001t0002g0151 a0001c0001t0002g0215 a0001c0001t0002g0217 a0001c0001t0002g0240 a0001c0001t0019g0119 a0001c0001t0019g0149 a0001c0001t0019g0150 a0001c0001t0082g0104 a0001c0001t0083g0106	38	122	0.3115	24	c.25 others(35): Show c.2508_*2509insTTATATATATATATATATATATAT	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2508		chr1	TogoVar
SNORC_chr2_232865264_232883700	232865534	T T	TTTTTTTT others(17): Show TTTTTTTTTTTTTTTTTTGGAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0043 a0001c0001t0019g0043	1	450	0.0022	24	c.-48 others(35): Show c.-4808_-4807insTTTTTTTTTTTTTTTTTGGAATAC	SNORC	ENSG00000182600.10	transcript	ENST00000331342.5	protein_coding		4729		chr2	TogoVar
SNRK_chr3_43281540_43356143	43296415	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	94	0.0106	24	c.-16 others(43): Show c.-168-3321_-168-3320insATATATATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRK_chr3_43281540_43356143	43322951	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01070.hp1 HG01255.hp2 others(11): Show HG00544.hp1 HG01070.hp1 HG01255.hp2 HG01978.hp1 HG02148.hp2 HG02273.hp1 HG02683.hp2 HG02723.hp2 HG02818.hp2 HG03942.hp2 NA18948.hp2 NA18963.hp2 NA18982.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0018 a0001c0002t0004 a0001c0001t0001 a0001c0001t0018 a0001c0002t0004	a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 others(11): Show a0001c0001t0001g0149 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0018g0165 a0001c0002t0004g0217 a0001c0002t0004g0218	14	20	0.7000	24	c.590 others(41): Show c.590-9203_590-9202insAAAAAAAAAAAAAAAAAAAAAAAA	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRK_chr3_43281540_43356143	43339818	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0100 a0001c0001t0003g0100	1	12	0.0833	24	c.732 others(39): Show c.732-436_732-413dupATATATATATATATATATATATAT	SNRK	ENSG00000163788.14	transcript	ENST00000296088.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
SNRNP200_chr2_96269338_96310546	96304044	G G	GTATATAA others(17): Show GTATATAAAAGTATAAAAGTTTTGT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0058 a0001c0008t0001g0058	1	340	0.0029	24	c.209 others(39): Show c.209+660_209+661insACAAAACTTTTATACTTTTATATA	SNRNP200	ENSG00000144028.15	transcript	ENST00000323853.10	protein_coding	2/44			chr2	TogoVar
SNRPD3_chr22_24550999_24579971	24561064	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	246	0.0041	24	c.126 others(41): Show c.126+3266_126+3289dupTTTTTTTTTTTTTTTTTTTTTTTT	SNRPD3	ENSG00000100028.12	transcript	ENST00000215829.8	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
SNTB1_chr8_120530756_120817046	120738545	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA18973.hp2 NA19091.hp1 HG01175.hp2 NA18973.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0061 a0001c0001t0002g0125 a0001c0001t0003g0021 a0001c0001t0002g0061 a0001c0001t0002g0125 a0001c0001t0003g0021	3	43	0.0698	24	c.572 others(43): Show c.572-44661_572-44638dupGGAAGGAAGGAAGGAAGGAAGGAA	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	1/6			chr8	TogoVar
SNTB1_chr8_120530756_120817046	120744121	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 NA19000.hp1 NA19066.hp1 HG01192.hp1 NA19000.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0178 a0001c0001t0003g0146 a0001c0001t0004g0027 a0001c0001t0001g0178 a0001c0001t0003g0146 a0001c0001t0004g0027	3	85	0.0353	24	c.572 others(43): Show c.572-50214_572-50213insAAAAAAAAAAAAAAAAAAAAAAAA	SNTB1	ENSG00000172164.15	transcript	ENST00000517992.2	protein_coding	1/6			chr8	TogoVar
SNTB2_chr16_69182164_69314052	69199595	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18964.hp2 NA21309.hp2 HG03710.hp2 NA18964.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0027 a0001c0002t0036 a0001c0002t0012 a0001c0002t0027 a0001c0002t0036	a0001c0002t0012g0202 a0001c0002t0027g0047 a0001c0002t0036g0204 a0001c0002t0012g0202 a0001c0002t0027g0047 a0001c0002t0036g0204	3	126	0.0238	24	c.580 others(43): Show c.580+11865_580+11866insAAAAAAAAAAAAAAAAAAAAAAAA	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69208990	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0075 a0001c0002t0021g0075	1	215	0.0047	24	c.580 others(43): Show c.580+21245_580+21246insGTGTGTGTGTGTGTGTGTGTTTTT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTB2_chr16_69182164_69314052	69292392	A A	ATATATAT others(17): Show ATATATATATATATTATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	199	0.0050	24	c.134 others(43): Show c.1346-7185_1346-7184insTATATATATATTATATATATATAT	SNTB2	ENSG00000168807.17	transcript	ENST00000336278.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr16	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTCTTTT others(17): Show TTTCTTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0009 a0001c0001t0013g0009	1	34	0.0294	24	c.-10 others(45): Show c.-103+26374_-103+26375insCTTTTCTTTCTTTCTTTCTTTCTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938603	T T	TTTTCTTT others(17): Show TTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0053 a0001c0001t0030g0053	1	34	0.0294	24	c.-10 others(45): Show c.-103+26379_-103+26380insTCTTTTCTTTTCTTTTCTTTCTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNTG1_chr8_49906407_50801692	49938643	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0057 a0001c0001t0017g0057	1	105	0.0095	24	c.-10 others(45): Show c.-103+26412_-103+26413insTTTCTTTCTTTCTTTCTTTCTTTG	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	1/18			chr8	TogoVar

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