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
SPIN1_chr9_88383444_88483694	88441398	C C	CGCGTGTG others(17): Show CGCGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02897.hp1 others(5): Show HG02109.hp1 HG02451.hp1 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03471.hp1 HG03579.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0155 others(5): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0161 a0001c0001t0002g0169	8	130	0.0615	24	c.53- others(39): Show c.53-7542_53-7541insCGTGTGTGTGTGTGTGTGTGTGTG	SPIN1	ENSG00000106723.17	transcript	ENST00000375859.4	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
SPINK13_chr5_148263794_148291255	148267272	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	182	0.0055	24	c.-16 others(35): Show c.-1650_-1649insTTTTTTTTTTTTTTTTTTTTTTTT	SPINK13	ENSG00000214510.10	transcript	ENST00000398450.5	protein_coding		1521		chr5	TogoVar
SPINK2_chr4_56804861_56826701	56821746	A A	AGGGCGGG others(17): Show AGGGCGGGGAAAGGGGCGGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02145.hp1 others(9): Show HG01884.hp2 HG02055.hp1 HG02145.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp2 HG03130.hp1 HG03139.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0016 a0002c0002t0002g0199 a0002c0002t0002g0200 others(4): Show a0002c0002t0002g0016 a0002c0002t0002g0199 a0002c0002t0002g0200 a0002c0002t0003g0026 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061	12	374	0.0321	24	c.-85 others(31): Show c.-85_-84insCTTCCCCCGCCCCTTTCCCCGCCC	SPINK2	ENSG00000128040.13	transcript	ENST00000506738.6	protein_coding		46		chr4	TogoVar
SPINK5_chr5_148058980_148142382	148077637	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG03225.hp2 HG02486.hp2 HG02615.hp2 HG03225.hp2	a0003 a0006 a0012 a0003 a0006 a0012	a0003c0003 a0006c0006 a0012c0014 a0003c0003 a0006c0006 a0012c0014	a0003c0003t0002 a0006c0006t0002 a0012c0014t0002 a0003c0003t0002 a0006c0006t0002 a0012c0014t0002	a0003c0003t0002g0085 a0006c0006t0002g0087 a0012c0014t0002g0084 a0003c0003t0002g0085 a0006c0006t0002g0087 a0012c0014t0002g0084	3	76	0.0395	24	c.282 others(41): Show c.282+5440_282+5441insATATATATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINK5_chr5_148058980_148142382	148123521	G G	GTGTGTGT others(17): Show GTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0004 a0009c0010t0004	a0009c0010t0004g0146 a0009c0010t0004g0146	1	250	0.0040	24	c.253 others(41): Show c.2539-311_2539-310insGTGTGTATATATATATATATATAT	SPINK5	ENSG00000133710.17	transcript	ENST00000256084.8	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPINT2_chr19_38259573_38297615	38268766	C C	CGCGTGTG others(17): Show CGCGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18979.hp2 NA19065.hp1 others(1): Show NA18971.hp2 NA18979.hp2 NA19065.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139	4	141	0.0284	24	c.106 others(41): Show c.106+3769_106+3770insCGTGTGTGTGTGTGTGTGTGTGTG	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPINT2_chr19_38259573_38297615	38289484	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	130	0.0077	24	c.391 others(39): Show c.391+299_391+322dupAAAAAAAAAAAAAAAAAAAAAAAA	SPINT2	ENSG00000167642.13	transcript	ENST00000301244.12	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPIRE1_chr18_12441512_12663107	12526056	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG02080.hp2 others(10): Show HG01257.hp1 HG01258.hp2 HG02080.hp2 HG02451.hp2 HG02559.hp2 HG03209.hp2 HG03579.hp2 HG03834.hp2 HG06807.hp2 NA18951.hp2 NA18991.hp2 NA19010.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0091 others(10): Show a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0148 a0001c0001t0001g0173 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0002g0239 a0001c0001t0003g0279 a0001c0001t0003g0281 a0001c0001t0003g0292 a0001c0001t0004g0052	13	21	0.6190	24	c.729 others(41): Show c.729+9396_729+9419dupGTGTGTGTGTGTGTGTGTGTGTGT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	4/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0003 a0004c0007t0017 a0001c0001t0003 a0004c0007t0017	a0001c0001t0003g0270 a0004c0007t0017g0272 a0001c0001t0003g0270 a0004c0007t0017g0272	2	139	0.0144	24	c.372 others(43): Show c.372+19716_372+19717insATATATTTTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	138	0.0072	24	c.372 others(43): Show c.372+19716_372+19717insATATATATTTTTTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA19077.hp1 HG02109.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0290 a0001c0001t0003g0312 a0001c0001t0003g0290 a0001c0001t0003g0312	2	139	0.0144	24	c.372 others(43): Show c.372+19716_372+19717insATATATATATATTTTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0285 a0001c0001t0003g0285	1	138	0.0072	24	c.372 others(43): Show c.372+19716_372+19717insATATATATATATATTTTTTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE1_chr18_12441512_12663107	12615345	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0003 a0001c0001t0012g0003	1	138	0.0072	24	c.372 others(43): Show c.372+19716_372+19717insATATATATATATATATATTTTTTT	SPIRE1	ENSG00000134278.16	transcript	ENST00000409402.9	protein_coding	2/16			chr18	TogoVar
SPIRE2_chr16_89823475_89876319	89828420	G G	GCCCCCCG others(17): Show GCCCCCCGCGCCCTCCGCGCCCCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	353	0.0028	24	c.-13 others(33): Show c.-131_-130insCCCCCCGCGCCCTCCGCGCCCCGC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding		54		chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	30	0.0333	24	c.180 others(41): Show c.1807-513_1807-512insAAAAAAAAAATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(17): Show AAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0046 a0003c0004t0001g0046	1	30	0.0333	24	c.180 others(41): Show c.1807-513_1807-512insAAAAAAAATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01978.hp1 HG03579.hp2 HG00099.hp1 HG01978.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0135 a0001c0001t0001g0292 a0001c0001t0001g0296	3	32	0.0938	24	c.180 others(41): Show c.1807-513_1807-512insAAAAAATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	30	0.0333	24	c.180 others(41): Show c.1807-513_1807-512insAATATATATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPNS2_chr17_4493881_4544035	4540924	A A	AGGCCCCG others(17): Show AGGCCCCGTCCCGGGCCCCATCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	297	0.0034	24	c.34 others(35): Show c.3476_*3477insGGCCCCGTCCCGGGCCCCATCCCG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1890		chr17	TogoVar
SPNS2_chr17_4493881_4544035	4540924	A A	AGGCCCCG others(17): Show AGGCCCCGTCCCGGGCCCCGTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp2 others(79): Show HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp2 HG00673.hp1 HG00741.hp2 HG01099.hp1 HG01109.hp1 HG01168.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp1 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02135.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02698.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp2 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18951.hp1 NA18953.hp1 NA18956.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp1 NA19066.hp2 NA19067.hp2 NA19079.hp2 NA19083.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0014	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0013 a0001c0001t0018 a0001c0001t0039 a0001c0001t0040 a0001c0001t0043 a0001c0004t0002 a0001c0005t0002 a0001c0006t0002 a0001c0012t0002 a0001c0014t0002	a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 others(74): Show a0001c0001t0002g0010 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0047 a0001c0001t0002g0054 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0078 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0099 a0001c0001t0002g0104 a0001c0001t0002g0109 a0001c0001t0002g0117 a0001c0001t0002g0123 a0001c0001t0002g0127 a0001c0001t0002g0130 a0001c0001t0002g0143 a0001c0001t0002g0156 a0001c0001t0002g0198 a0001c0001t0002g0206 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0266 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0277 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0287 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0303 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0316 a0001c0001t0002g0319 a0001c0001t0002g0327 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0357 a0001c0001t0004g0056 a0001c0001t0004g0102 a0001c0001t0005g0190 a0001c0001t0008g0005 a0001c0001t0008g0182 a0001c0001t0008g0183 a0001c0001t0013g0003 a0001c0001t0013g0044 a0001c0001t0018g0111 a0001c0001t0018g0112 a0001c0001t0039g0324 a0001c0001t0040g0264 a0001c0001t0043g0317 a0001c0004t0002g0124 a0001c0004t0002g0267 a0001c0004t0002g0290 a0001c0004t0002g0291 a0001c0004t0002g0292 a0001c0005t0002g0048 a0001c0005t0002g0053 a0001c0005t0002g0077 a0001c0005t0002g0121 a0001c0005t0002g0148 a0001c0006t0002g0046 a0001c0006t0002g0195 a0001c0012t0002g0243 a0001c0014t0002g0140	82	378	0.2169	24	c.34 others(35): Show c.3476_*3477insGGCCCCGTCCCGGGCCCCGTCCCG	SPNS2	ENSG00000183018.9	transcript	ENST00000329078.8	protein_coding		1890		chr17	TogoVar
SPNS3_chr17_4428940_4493204	4436478	G G	GGAGGCTG others(17): Show GGAGGCTGAAGCAGGAGGATTGCTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0320 a0001c0003t0001g0320	1	356	0.0028	24	c.199 others(41): Show c.199+2348_199+2371dupAGGAGGATTGCTTGAGGCTGAAGC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4436490	A A	AGGAGGAT others(17): Show AGGAGGATTGCTTGAGGCTGAAGCG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0046 a0001c0001t0002g0046	1	360	0.0028	24	c.199 others(41): Show c.199+2347_199+2348insGGGAGGATTGCTTGAGGCTGAAGC	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4441983	A A	AGTGTGTG others(17): Show AGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0337 a0001c0007t0003g0337	1	146	0.0068	24	c.265 others(41): Show c.265+2271_265+2294dupGTGTGTGTGTGTGTGTGTGTGTGT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03130.hp1 HG02486.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0326 a0001c0001t0002g0329 a0001c0001t0002g0326 a0001c0001t0002g0329	2	180	0.0111	24	c.111 others(43): Show c.1113+5386_1113+5387insCCTTCCTTCCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(17): Show CCTTCCTTCCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0002 a0001c0006t0002 a0001c0001t0002 a0001c0006t0002	a0001c0001t0002g0343 a0001c0006t0002g0048 a0001c0001t0002g0343 a0001c0006t0002g0048	2	180	0.0111	24	c.111 others(43): Show c.1113+5386_1113+5387insCCTTCCTTTCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4458588	C C	CCTTCCTT others(17): Show CCTTCCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19067.hp2 NA19043.hp1 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0002 a0001c0001t0001 a0001c0014t0002	a0001c0001t0001g0231 a0001c0014t0002g0007 a0001c0001t0001g0231 a0001c0014t0002g0007	2	180	0.0111	24	c.111 others(43): Show c.1113+5386_1113+5387insCCTTTCTTTCTTTCTTTCTTTCTT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPNS3_chr17_4428940_4493204	4468721	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(28): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01256.hp2 HG01361.hp2 HG01978.hp1 HG01978.hp2 HG02071.hp2 HG02080.hp1 HG03130.hp1 HG03834.hp1 HG04115.hp1 NA18747.hp1 NA18747.hp2 NA18954.hp1 NA18960.hp2 NA18965.hp1 NA18970.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19070.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0003 a0001c0004 others(7): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0002c0002 a0002c0011 a0003c0005 a0003c0008 a0003c0020 a0006c0026	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0004t0001 a0001c0009t0002 a0002c0002t0001 a0002c0011t0003 a0003c0005t0001 a0003c0008t0003 a0003c0020t0001 a0006c0026t0001	a0001c0001t0001g0134 a0001c0001t0001g0185 a0001c0001t0001g0204 others(28): Show a0001c0001t0001g0134 a0001c0001t0001g0185 a0001c0001t0001g0204 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0275 a0001c0001t0001g0294 a0001c0001t0001g0348 a0001c0001t0001g0353 a0001c0001t0001g0361 a0001c0001t0002g0326 a0001c0003t0001g0309 a0001c0004t0001g0064 a0001c0004t0001g0066 a0001c0004t0001g0068 a0001c0004t0001g0093 a0001c0009t0002g0076 a0002c0002t0001g0094 a0002c0002t0001g0228 a0002c0002t0001g0302 a0002c0011t0003g0255 a0003c0005t0001g0235 a0003c0008t0003g0141 a0003c0020t0001g0115 a0006c0026t0001g0225	31	76	0.4079	24	c.111 others(43): Show c.1114-9833_1114-9810dupTTCTTTCTTTCTTTCTTTCTTTCT	SPNS3	ENSG00000182557.8	transcript	ENST00000355530.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01169.hp1 NA18954.hp1 others(1): Show HG00323.hp1 HG01169.hp1 NA18954.hp1 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0203 a0002c0002t0001g0240 a0002c0002t0002g0182 others(1): Show a0002c0002t0001g0203 a0002c0002t0001g0240 a0002c0002t0002g0182 a0002c0002t0002g0201	4	38	0.1053	24	c.-12 others(35): Show c.-1200_-1199insAAAAAAAAAAAATATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02083.hp2 NA18990.hp1 HG02083.hp2 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0222 a0002c0002t0002g0196 a0002c0002t0002g0222	2	36	0.0556	24	c.-12 others(35): Show c.-1200_-1199insAAAAAAAAAAAAAATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01192.hp1 HG01515.hp1 others(2): Show HG01109.hp2 HG01192.hp1 HG01515.hp1 HG01981.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0002 a0013c0021 a0002c0002 a0013c0021	a0002c0002t0001 a0002c0002t0002 a0013c0021t0002 a0002c0002t0001 a0002c0002t0002 a0013c0021t0002	a0002c0002t0001g0186 a0002c0002t0001g0217 a0002c0002t0001g0221 others(2): Show a0002c0002t0001g0186 a0002c0002t0001g0217 a0002c0002t0001g0221 a0002c0002t0002g0191 a0013c0021t0002g0245	5	39	0.1282	24	c.-12 others(35): Show c.-1200_-1199insAAAAAAAAAAAAAAAATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(17): Show ATATATATTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0181 a0002c0002t0002g0181	1	35	0.0286	24	c.-12 others(35): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137066987	C C	CACACACA others(17): Show CACACACACACACAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0085 a0001c0001t0026g0085	1	121	0.0083	24	c.589 others(39): Show c.589+727_589+728insCTCTCTCTCTCTGTGTGTGTGTGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137066987	C C	CACACACA others(17): Show CACACACAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0069 a0001c0001t0009g0069	1	121	0.0083	24	c.589 others(39): Show c.589+727_589+728insCTCTCTCTCTCTCTCTCTGTGTGT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	6/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0125 a0001c0001t0005g0125	1	63	0.0159	24	c.347 others(41): Show c.347+8590_347+8591insATATATATATATATATATTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356834	T T	TAGAGAGA others(17): Show TAGAGAGAGAGAGAGAGGGAGAGAG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	126	0.0079	24	c.187 others(43): Show c.187-89780_187-89779insCTCTCTCCCTCTCTCTCTCTCTCT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATAGAGA others(17): Show TATAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	19	0.0526	24	c.187 others(43): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTCTCTCTAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(17): Show TATATATATAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	19	0.0526	24	c.187 others(43): Show c.187-89784_187-89783insCTCTCTCTCTCTCTCTATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(17): Show TATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	19	0.0526	24	c.187 others(43): Show c.187-89784_187-89783insCTCTCTCTCTCTCTATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02572.hp2 HG02280.hp1 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0019 a0001c0002t0005 a0001c0002t0019	a0001c0002t0005g0121 a0001c0002t0019g0010 a0001c0002t0005g0121 a0001c0002t0019g0010	2	20	0.1000	24	c.187 others(43): Show c.187-89784_187-89783insCTCTCTCTCTCTATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356838	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0112 a0001c0001t0002g0112	1	19	0.0526	24	c.187 others(43): Show c.187-89784_187-89783insCTCTCTCTATATATATATATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137356873	A A	AGAGAGAG others(17): Show AGAGAGAGAGAGAGAGAGAGAGAGT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19085.hp1 NA18953.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0028 a0001c0001t0021g0068 a0001c0001t0001g0028 a0001c0001t0021g0068	2	74	0.0270	24	c.187 others(43): Show c.187-89819_187-89818insACTCTCTCTCTCTCTCTCTCTCTC	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137358390	A A	AAAGGAAG others(17): Show AAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01071.hp2 HG01981.hp2 others(11): Show HG00408.hp1 HG01071.hp2 HG01981.hp2 HG02257.hp2 HG03579.hp2 NA18953.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp1 NA18966.hp2 NA18970.hp2 NA19043.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0016 a0001c0001t0018 a0001c0001t0027	a0001c0001t0001g0029 a0001c0001t0002g0135 a0001c0001t0002g0139 others(11): Show a0001c0001t0001g0029 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0003g0016 a0001c0001t0003g0056 a0001c0001t0004g0075 a0001c0001t0005g0133 a0001c0001t0005g0149 a0001c0001t0009g0070 a0001c0001t0010g0015 a0001c0001t0012g0151 a0001c0001t0016g0138 a0001c0001t0018g0009 a0001c0001t0027g0140	14	61	0.2295	24	c.187 others(43): Show c.187-91359_187-91336dupCCTTCCTTCCTTCCTTCCTTCCTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137384576	A A	ATATATAT others(17): Show ATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03041.hp2 HG03471.hp2 HG01884.hp1 HG03041.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0017 a0001c0002t0001 a0001c0001t0002 a0001c0001t0017 a0001c0002t0001	a0001c0001t0002g0105 a0001c0001t0017g0118 a0001c0002t0001g0001 a0001c0001t0002g0105 a0001c0001t0017g0118 a0001c0002t0001g0001	3	144	0.0208	24	c.186 others(45): Show c.186+113796_186+113797insCATATATATATATATATATATATA	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	2/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	166797233	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	101	0.0099	24	c.590 others(41): Show c.590-4945_590-4944insAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166800183	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0120 a0001c0001t0003g0120	1	62	0.0161	24	c.590 others(41): Show c.590-7895_590-7894insTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166822110	G G	GATTTTGA others(17): Show GATTTTGAATTATATAATCACACTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02132.hp2 HG02165.hp1 HG02071.hp2 HG02132.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0002g0125 a0001c0001t0001g0095 a0001c0001t0002g0121 a0001c0001t0002g0125	3	142	0.0211	24	c.590 others(43): Show c.590-29845_590-29822dupTAGTGTGATTATATAATTCAAAAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	166860802	C C	CATATATA others(17): Show CATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01109.hp2 HG01943.hp1 others(3): Show HG01071.hp1 HG01109.hp2 HG01943.hp1 HG02257.hp1 NA19002.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0003c0006t0001	a0001c0001t0002g0089 a0001c0001t0002g0131 a0001c0001t0003g0102 others(3): Show a0001c0001t0002g0089 a0001c0001t0002g0131 a0001c0001t0003g0102 a0001c0001t0004g0097 a0001c0001t0010g0067 a0003c0006t0001g0073	6	51	0.1176	24	c.589 others(43): Show c.589+28327_589+28328insATATATATATATATATATATATAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	6/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167030083	T T	TTCTATCT others(17): Show TTCTATCTATCTATTTATCTATCTA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	69	0.0145	24	c.236 others(43): Show c.236-29621_236-29620insTAGATAGATAAATAGATAGATAGA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167046450	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	68	0.0147	24	c.235 others(43): Show c.235+16018_235+16041dupAAAAAAAAAAAAAAAAAAAAAAAA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	3/10			chr4	TogoVar
SPOCK3_chr4_166728384_167239494	167065037	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	7	0.1429	24	c.190 others(41): Show c.190-2501_190-2500insTTTTTTTTTTTTTTTTTTTTTTTT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar

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