Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTACACACACACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0076 a0001c0001t0076	a0001c0001t0076g0180 a0001c0001t0076g0180	1	306	0.0033	24	c.231 others(43): Show c.231-12896_231-12895insGTGTGTGTGTGTACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTACACACAC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0088 a0001c0003t0024g0088	1	306	0.0033	24	c.231 others(43): Show c.231-12896_231-12895insGTGTGTGTACACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125042634	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTAC	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0286 a0001c0001t0023g0286	1	306	0.0033	24	c.231 others(43): Show c.231-12896_231-12895insGTACACACACACACACACACACAC	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	3/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	306	0.0033	24	c.98+ others(41): Show c.98+36510_98+36511insATATTTTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0010 a0001c0001t0059g0010	1	306	0.0033	24	c.98+ others(41): Show c.98+36510_98+36511insATATATTTTTTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18988.hp1 HG03710.hp2 NA18988.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0001 a0001c0001t0006 a0002c0002t0001	a0001c0001t0006g0294 a0002c0002t0001g0252 a0001c0001t0006g0294 a0002c0002t0001g0252	2	306	0.0065	24	c.98+ others(41): Show c.98+36510_98+36511insATATATATATTTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0264 a0002c0002t0001g0264	1	306	0.0033	24	c.98+ others(41): Show c.98+36510_98+36511insATATATATATATATTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0014 a0002c0002t0014	a0002c0002t0014g0250 a0002c0002t0014g0250	1	306	0.0033	24	c.98+ others(41): Show c.98+36510_98+36511insATATATATATATATATTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAI_chr9_124937608_125148528	125106122	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0286 a0001c0001t0023g0286	1	306	0.0033	24	c.98+ others(41): Show c.98+36510_98+36511insATATATATATATATATATTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78404453	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02055.hp2 HG02818.hp2 others(1): Show HG01243.hp1 HG02055.hp2 HG02818.hp2 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0162 a0002c0003t0007g0164 a0002c0003t0007g0169 others(1): Show a0002c0003t0007g0162 a0002c0003t0007g0164 a0002c0003t0007g0169 a0002c0003t0007g0170	4	332	0.0121	24	c.136 others(43): Show c.136-11047_136-11046insTTTTTTTTTTTTTTTTTTTTTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74865950	C C	CGAAGGAA others(17): Show CGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp2 HG02602.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0083 a0001c0001t0027g0082 a0001c0001t0001g0083 a0001c0001t0027g0082	2	386	0.0052	24	c.57+ others(39): Show c.57+7225_57+7248dupCTTCCTTCCTTCCTTCCTTCCTTC	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding	1/8			chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74873426	G G	GCCCCCCC others(17): Show GCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0336 a0001c0001t0004g0336	1	386	0.0026	24	c.-17 others(33): Show c.-172_-171insGGGGGGGGGGGGGGGGGGGGGGGG	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		62		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874661	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0048 a0001c0001t0005g0048	1	386	0.0026	24	c.-14 others(35): Show c.-1407_-1406insATATATATATATATTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1297		chr15	TogoVar
SCAMP3_chr1_155250981_155267360	155252690	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG03688.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG03688.hp2 NA19057.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0003g0025	5	375	0.0133	24	c.35 others(35): Show c.3582_*3583insTATATATATATATATATATATACA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3290		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155252722	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	375	0.0027	24	c.35 others(35): Show c.3550_*3551insAAAAAATATATATATATATATATA	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3258		chr1	TogoVar
SCAMP3_chr1_155250981_155267360	155265592	A A	AATAAATA others(17): Show AATAAATAAATAAATAAATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG01496.hp1 HG02523.hp2 others(8): Show HG00140.hp2 HG01496.hp1 HG02523.hp2 HG02683.hp1 HG03225.hp2 HG03239.hp1 HG03927.hp2 HG04228.hp2 NA19057.hp2 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0048 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0048 a0001c0001t0001g0056 a0001c0001t0001g0060	11	375	0.0293	24	c.-34 others(35): Show c.-3442_-3441insATATTTATTTATTTATTTATTTAT	SCAMP3	ENSG00000116521.11	transcript	ENST00000302631.8	protein_coding		3233		chr1	TogoVar
SCAMP4_chr19_1900399_1931013	1906866	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	442	0.0023	24	c.-42 others(41): Show c.-42+1450_-42+1451insGTGTGTGTGTGTGTGTGTGTGTGT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SCAMP4_chr19_1900399_1931013	1930484	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0050 a0001c0001t0021g0050	1	442	0.0023	24	c.62 others(35): Show c.6200_*6201insGTGTGTGTGTGTGTGTGTGTGTGA	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding		4472		chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990994	C C	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	24	c.-47 others(35): Show c.-4728_-4727insTCTTTCTTTCTTTCTTTCTTTCTT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4568		chr15	TogoVar
SCAPER_chr15_76342904_76910340	76357150	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0220 a0002c0015t0002g0220	1	312	0.0032	24	c.385 others(43): Show c.3856-3034_3856-3011dupTGTGTGTGTGTGTGTGTGTGTGTG	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	29/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76428866	C C	CTATATAT others(17): Show CTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp2 HG01261.hp1 others(20): Show HG00597.hp1 HG01255.hp2 HG01261.hp1 HG02027.hp1 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02735.hp2 HG02818.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp2 HG03704.hp2 NA18944.hp2 NA18945.hp2 NA18967.hp1 NA18977.hp1 NA19005.hp2 NA19085.hp1 NA19091.hp1	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0010 a0002c0002 others(4): Show a0001c0001 a0001c0010 a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0010c0026	a0001c0001t0001 a0001c0010t0001 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0010t0001 a0002c0002t0002 a0002c0003t0002 a0002c0011t0002 a0002c0015t0002 a0010c0026t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0010t0001g0167 others(20): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0010t0001g0167 a0002c0002t0002g0194 a0002c0002t0002g0219 a0002c0002t0002g0226 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0237 a0002c0002t0002g0255 a0002c0002t0002g0261 a0002c0002t0002g0264 a0002c0002t0002g0266 a0002c0002t0002g0286 a0002c0002t0002g0293 a0002c0002t0002g0303 a0002c0002t0002g0308 a0002c0003t0002g0201 a0002c0003t0002g0207 a0002c0003t0002g0209 a0002c0011t0002g0285 a0002c0015t0002g0277 a0010c0026t0002g0238	23	312	0.0737	24	c.331 others(43): Show c.3311+5188_3311+5211dupTATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76488714	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01433.hp2 HG01070.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0276 a0002c0002t0002g0298 a0002c0002t0002g0276 a0002c0002t0002g0298	2	312	0.0064	24	c.295 others(45): Show c.2954+16121_2954+16144dupAAAAAAAAAAAAAAAAAAAAAAAA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76637722	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0195 a0002c0003t0005g0195	1	312	0.0032	24	c.264 others(45): Show c.2646-15894_2646-15893insTATATATATATATATATATATATA	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652273	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	312	0.0032	24	c.264 others(45): Show c.2645+13379_2645+13380insATATATATATATTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACACA others(17): Show CACACACACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	312	0.0032	24	c.264 others(45): Show c.2645+13281_2645+13282insATATATATATATGTGTGTGTGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CACACATA others(17): Show CACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA19056.hp1 HG01433.hp2 NA19056.hp1	a0002 a0012 a0002 a0012	a0002c0002 a0012c0024 a0002c0002 a0012c0024	a0002c0002t0002 a0012c0024t0002 a0002c0002t0002 a0012c0024t0002	a0002c0002t0002g0276 a0012c0024t0002g0284 a0002c0002t0002g0276 a0012c0024t0002g0284	2	312	0.0064	24	c.264 others(45): Show c.2645+13281_2645+13282insATATATATATATATATATATGTGT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76652371	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0303 a0002c0002t0002g0303	1	312	0.0032	24	c.264 others(45): Show c.2645+13258_2645+13281dupATATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	21/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76726124	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02300.hp2 HG02647.hp1 others(4): Show HG00323.hp2 HG02300.hp2 HG02647.hp1 HG02818.hp2 NA18969.hp1 NA18980.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0003c0006	a0001c0001t0001 a0001c0001t0003 a0001c0007t0010 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0010 a0002c0003t0002 a0003c0006t0001	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0003g0146 others(4): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0003g0146 a0001c0007t0010g0028 a0002c0003t0002g0204 a0002c0003t0002g0294 a0003c0006t0001g0134	7	312	0.0224	24	c.216 others(43): Show c.2165+2447_2165+2470dupATATATATATATATATATATATAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	17/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76873274	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0220 a0002c0015t0002g0220	1	312	0.0032	24	c.6+1 others(39): Show c.6+10514_6+10537dupCCTTCCTTCCTTCCTTCCTTCCTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	2/31			chr15	TogoVar
SCAP_chr3_47408681_47480941	47473080	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03453.hp2 NA18977.hp2 HG03225.hp2 HG03453.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0025 a0001c0001 a0001c0025	a0001c0001t0001 a0001c0025t0001 a0001c0001t0001 a0001c0025t0001	a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0025t0001g0046 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0025t0001g0046	3	304	0.0099	24	c.-99 others(41): Show c.-99+2718_-99+2719insTTTTTTTTTTTTTTTTTTTTTTTT	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	1/22			chr3	TogoVar
SCARA3_chr8_27628902_27678018	27660532	G G	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0284 a0001c0001t0005g0284	1	408	0.0025	24	c.136 others(42): Show c.1369+999_1369+1022dupGATAGATAGATAGATAGATAGATA	SCARA3	ENSG00000168077.14	transcript	ENST00000301904.4	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
SCARA5_chr8_27864883_27997673	27875177	C C	CCCTCCCT others(17): Show CCCTCCCTCCCTCCCTCCCTTCACT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0093 a0001c0001t0021g0093	1	314	0.0032	24	c.135 others(43): Show c.1352-3131_1352-3108dupAGTGAAGGGAGGGAGGGAGGGAGG	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	8/8			chr8	TogoVar
SCARA5_chr8_27864883_27997673	27989129	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0063 a0001c0005t0063	a0001c0005t0063g0312 a0001c0005t0063g0312	1	314	0.0032	24	c.-15 others(41): Show c.-15-1523_-15-1500dupAAAAAAAAAAAAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding	1/8			chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837594	A A	AAAAGAAA others(17): Show AAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19005.hp2 NA18992.hp1 NA19005.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0263 a0001c0003t0002g0280 a0001c0003t0002g0263 a0001c0003t0002g0280	2	356	0.0056	24	c.127 others(43): Show c.127-19888_127-19887insCTTTTCTTTTCTTTTCTTTTCTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCARB2_chr4_76153737_76218824	76170971	T T	TATATATA others(17): Show TATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	384	0.0026	24	c.995 others(39): Show c.995-987_995-986insTTATATATATATATATATATATAT	SCARB2	ENSG00000138760.11	transcript	ENST00000264896.8	protein_coding	7/11			chr4	TogoVar
SCART1_chr10_133448945_133474760	133460525	A A	ATATTTAT others(17): Show ATATTTATTTATTTATTTATTTATT	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA18951.hp1 NA18973.hp1 others(5): Show HG03516.hp1 NA18951.hp1 NA18973.hp1 NA18975.hp1 NA18995.hp1 NA18998.hp2 NA19006.hp2 NA19065.hp1	a0003 a0007 a0009 others(1): Show a0003 a0007 a0009 a0041	a0003c0008 a0007c0035 a0009c0049 others(1): Show a0003c0008 a0007c0035 a0009c0049 a0041c0032	a0003c0008t0003 a0007c0035t0003 a0009c0049t0004 others(1): Show a0003c0008t0003 a0007c0035t0003 a0009c0049t0004 a0041c0032t0003	a0003c0008t0003g0101 a0003c0008t0003g0103 a0003c0008t0003g0104 others(5): Show a0003c0008t0003g0101 a0003c0008t0003g0103 a0003c0008t0003g0104 a0003c0008t0003g0105 a0003c0008t0003g0109 a0007c0035t0003g0096 a0009c0049t0004g0055 a0041c0032t0003g0111	8	434	0.0184	24	c.196 others(41): Show c.1969+361_1969+384dupATTTATTTATTTATTTATTTATTT	SCART1	ENSG00000214279.13	transcript	ENST00000640237.2	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr10	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAC others(17): Show TGATAGACAGACAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01192.hp2 others(14): Show HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01261.hp1 HG01496.hp2 HG01515.hp2 HG02723.hp2 HG03225.hp1 HG03710.hp2 NA18961.hp2 NA18963.hp1 NA18967.hp2 NA18986.hp2 NA18994.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0001 a0001c0001t0002 a0001c0001t0010	a0001c0001t0001g0171 a0001c0001t0002g0013 a0001c0001t0002g0053 others(14): Show a0001c0001t0001g0171 a0001c0001t0002g0013 a0001c0001t0002g0053 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0163 a0001c0001t0010g0199	17	210	0.0810	24	c.570 others(43): Show c.570-16854_570-16853insTATCTATCTATCTGTCTGTCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82653676	T T	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG06807.hp1 NA18963.hp2 HG02717.hp2 HG06807.hp1 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0131 a0001c0001t0001g0175 a0001c0001t0001g0024 a0001c0001t0001g0131 a0001c0001t0001g0175	3	210	0.0143	24	c.570 others(43): Show c.570-16877_570-16854dupTATCTATCTATCTATCTATCTATC	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82664999	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	210	0.0048	24	c.569 others(43): Show c.569+15707_569+15708insTATATATATATAGAGAGAGAGAGA	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCEL_chr13_77530706_77650263	77633442	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00733.hp1 HG01255.hp1 others(6): Show HG00597.hp1 HG00733.hp1 HG01255.hp1 HG01496.hp1 HG01978.hp1 HG03579.hp2 NA18939.hp1 NA18997.hp2 NA18999.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0001 a0003c0005 a0001c0004 a0002c0001 a0003c0005	a0001c0004t0002 a0002c0001t0001 a0003c0005t0002 a0001c0004t0002 a0002c0001t0001 a0003c0005t0002	a0001c0004t0002g0110 a0001c0004t0002g0118 a0002c0001t0001g0007 others(5): Show a0001c0004t0002g0110 a0001c0004t0002g0118 a0002c0001t0001g0007 a0002c0001t0001g0306 a0002c0001t0001g0312 a0002c0001t0001g0315 a0003c0005t0002g0039 a0003c0005t0002g0040	9	356	0.0253	24	c.169 others(41): Show c.1692-936_1692-913dupAAAAAAAAAAAAAAAAAAAAAAAA	SCEL	ENSG00000136155.17	transcript	ENST00000349847.4	protein_coding	28/32		INFO_REALIGN_3_PRIME	chr13	TogoVar
SCFD2_chr4_52867982_53371061	52959897	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01243.hp1 HG01346.hp1 others(6): Show HG00408.hp2 HG01243.hp1 HG01346.hp1 HG03017.hp1 HG03492.hp1 NA18971.hp1 NA19087.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0006	a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 others(6): Show a0001c0001t0002 a0001c0001t0012 a0001c0003t0003 a0001c0003t0005 a0001c0005t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0006t0005	a0001c0001t0002g0112 a0001c0001t0012g0116 a0001c0003t0003g0106 others(6): Show a0001c0001t0002g0112 a0001c0001t0012g0116 a0001c0003t0003g0106 a0001c0003t0005g0126 a0001c0005t0001g0026 a0002c0002t0001g0096 a0002c0002t0002g0050 a0002c0002t0011g0090 a0002c0006t0005g0089	9	162	0.0556	24	c.156 others(45): Show c.1562-39051_1562-39028dupGTGTGTGTGTGTGTGTGTGTGTGT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18973.hp1 NA18612.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0139 a0001c0001t0001g0135 a0001c0001t0002g0139	2	162	0.0124	24	c.156 others(45): Show c.1562-86459_1562-86436dupTCTCTCTCTCTCTCTCTCTCTCTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53007305	G G	GGAGAGGG others(17): Show GGAGAGGGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	162	0.0062	24	c.156 others(45): Show c.1562-86436_1562-86435insTCTCTCTCTCTCTCTCTCCCTCTC	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53140392	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01243.hp1 HG01255.hp1 others(8): Show HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG02109.hp2 HG02145.hp1 HG02300.hp2 HG02622.hp1 HG02970.hp1 HG02976.hp2 NA18906.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0010 a0001c0001 a0001c0003 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0004c0010t0001	a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0101 others(8): Show a0001c0001t0001g0008 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0002g0104 a0001c0003t0003g0106 a0001c0003t0003g0114 a0004c0010t0001g0002	11	162	0.0679	24	c.156 others(43): Show c.1561+4940_1561+4941insATATATATATATATATATATATTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCFD2_chr4_52867982_53371061	53258577	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02486.hp1 NA18941.hp2 HG00140.hp2 HG02486.hp1 NA18941.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0008 a0001c0005 a0003c0008	a0001c0005t0003 a0001c0005t0004 a0003c0008t0002 a0001c0005t0003 a0001c0005t0004 a0003c0008t0002	a0001c0005t0003g0046 a0001c0005t0004g0033 a0003c0008t0002g0146 a0001c0005t0003g0046 a0001c0005t0004g0033 a0003c0008t0002g0146	3	162	0.0185	24	c.131 others(45): Show c.1311+15248_1311+15249insGTATATATATATATATATATATAT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	4/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704244	C C	CATACATA others(17): Show CATACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18956.hp2 HG00544.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0180 a0001c0001t0002g0092 a0001c0001t0001g0180 a0001c0001t0002g0092	2	402	0.0050	24	c.120 others(43): Show c.1207+3003_1207+3004insCATATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51704764	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01361.hp2 HG02145.hp1 others(9): Show HG00735.hp2 HG01361.hp2 HG02145.hp1 HG02683.hp2 HG03195.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp2 NA18993.hp2 NA19058.hp2 NA19078.hp2 NA19084.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0003c0004t0001 a0003c0004t0006	a0001c0001t0001g0091 a0001c0001t0001g0282 a0001c0001t0002g0281 others(9): Show a0001c0001t0001g0091 a0001c0001t0001g0282 a0001c0001t0002g0281 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0100 a0001c0001t0005g0070 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0005g0095 a0003c0004t0001g0266 a0003c0004t0006g0262	12	402	0.0299	24	c.120 others(43): Show c.1207+3528_1207+3551dupTATATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657199	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02630.hp1 HG02818.hp2 others(1): Show HG02109.hp1 HG02630.hp1 HG02818.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 others(1): Show a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0397	4	415	0.0096	24	c.226 others(43): Show c.226+13382_226+13383insGTATATATATATATATATATATAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32657209	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02622.hp1 HG02738.hp1 others(6): Show HG00597.hp2 HG02622.hp1 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03540.hp2 NA18949.hp2 NA18977.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0186 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0001g0249 a0001c0001t0002g0002 a0001c0001t0002g0032	9	415	0.0217	24	c.226 others(43): Show c.226+13394_226+13395insATATATATATATATATATATGTAT	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG5_chr15_32636710_32702092	32663032	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	415	0.0024	24	c.227 others(43): Show c.227-16710_227-16687dupTATATATATATATATATATATATA	SCG5	ENSG00000166922.9	transcript	ENST00000300175.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr15	TogoVar

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