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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPPL3_chr12_120757510_120909358	120833766	AGTGTGTG others(3): Show AGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01257.hp2 HG02040.hp2 others(5): Show HG00423.hp1 HG01257.hp2 HG02040.hp2 HG02572.hp2 HG02723.hp2 HG02976.hp2 HG03209.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0040 a0001c0002t0005	a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0003g0275 others(5): Show a0001c0001t0001g0248 a0001c0001t0001g0255 a0001c0001t0003g0275 a0001c0001t0003g0276 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0040g0277 a0001c0002t0005g0094	8	320	0.0250	-10	c.24- others(27): Show c.24-22890_24-22881delACACACACAC		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120853983	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01168.hp2 HG01169.hp2 others(9): Show HG00738.hp2 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG02280.hp1 HG02622.hp2 HG02976.hp2 HG03209.hp1 NA18963.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 others(6): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0012 a0001c0001t0016 a0001c0001t0022 a0001c0001t0032 a0001c0001t0038 a0001c0002t0005 a0001c0004t0009	a0001c0001t0003g0275 a0001c0001t0003g0296 a0001c0001t0009g0214 others(9): Show a0001c0001t0003g0275 a0001c0001t0003g0296 a0001c0001t0009g0214 a0001c0001t0012g0132 a0001c0001t0012g0192 a0001c0001t0016g0189 a0001c0001t0016g0190 a0001c0001t0022g0191 a0001c0001t0032g0219 a0001c0001t0038g0220 a0001c0002t0005g0074 a0001c0004t0009g0212	12	320	0.0375	-10	c.24- others(27): Show c.24-43107_24-43098delGTGTGTGTGT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPPL3_chr12_120757510_120909358	120870751	GATTCCAT others(3): Show GATTCCATTTA	G G	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0308 a0001c0001t0003g0308	1	320	0.0031	-10	c.23+ others(27): Show c.23+33084_23+33093delTAAATGGAAT		SPPL3	ENSG00000157837.16	transcript	ENST00000353487.7	protein_coding	1/10						chr12	TogoVar
SPRED1_chr15_38247836_38362249	38251521	TCTCACAC others(3): Show TCTCACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG00738.hp2 others(51): Show HG00558.hp2 HG00642.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01167.hp2 HG01361.hp2 HG01981.hp2 HG02132.hp2 HG02148.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp2 HG03710.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18747.hp2 NA18942.hp2 NA18945.hp2 NA18947.hp1 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18969.hp1 NA18978.hp1 NA18979.hp2 NA18985.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19057.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp2 NA19091.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 others(7): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0024 a0001c0001t0029 a0001c0001t0032 a0001c0001t0037 a0001c0001t0038 a0001c0001t0045 a0001c0002t0003 a0002c0003t0002	a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 others(51): Show a0001c0001t0002g0223 a0001c0001t0002g0225 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0004g0329 a0001c0001t0024g0251 a0001c0001t0029g0240 a0001c0001t0032g0260 a0001c0001t0037g0235 a0001c0001t0038g0365 a0001c0001t0045g0255 a0001c0002t0003g0029 a0002c0003t0002g0248	54	378	0.1429	-10	c.-16 others(21): Show c.-1664_-1655delCTCACACACA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding					1314		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38251697	AACACACA others(3): Show AACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG01106.hp1 HG01433.hp2 others(59): Show HG00408.hp1 HG01106.hp1 HG01433.hp2 HG01517.hp1 HG02559.hp2 HG02647.hp2 HG02735.hp2 HG02896.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp1 NA18942.hp1 NA18945.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18966.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18993.hp2 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19009.hp2 NA19010.hp1 NA19057.hp1 NA19064.hp1 NA19064.hp2 NA19067.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19078.hp2 NA19083.hp2 NA19087.hp2 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0022 a0001c0001t0044 a0001c0002t0003 a0001c0002t0015 a0001c0002t0021 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0114 others(57): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0114 a0001c0001t0001g0335 a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0227 a0001c0001t0002g0236 a0001c0001t0002g0261 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0004g0328 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0334 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0004g0342 a0001c0001t0004g0350 a0001c0001t0004g0353 a0001c0001t0005g0216 a0001c0001t0009g0315 a0001c0001t0022g0295 a0001c0001t0022g0307 a0001c0001t0044g0323 a0001c0002t0003g0003 a0001c0002t0003g0026 a0001c0002t0003g0027 a0001c0002t0003g0028 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0033 a0001c0002t0003g0035 a0001c0002t0003g0036 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0043 a0001c0002t0003g0044 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0067 a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0015g0060 a0001c0002t0021g0048 a0001c0002t0021g0069 a0001c0002t0025g0034 a0001c0002t0026g0042 a0001c0002t0027g0039 a0001c0002t0028g0068	62	378	0.1640	-10	c.-14 others(21): Show c.-1488_-1479delACACACACAC		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding					1138		chr15	TogoVar
SPRED1_chr15_38247836_38362249	38289623	TGACTGTA others(3): Show TGACTGTATAG	T T	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02886.hp2 HG02145.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0019 a0001c0002t0006g0020 a0001c0002t0006g0019 a0001c0002t0006g0020	2	378	0.0053	-10	c.33- others(25): Show c.33-9742_33-9733delTAGGACTGTA		SPRED1	ENSG00000166068.13	transcript	ENST00000299084.9	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr15	TogoVar
SPRED2_chr2_65305851_65437599	65310458	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01257.hp1 HG00642.hp2 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0068 a0001c0001t0002g0039 a0001c0001t0002g0068	2	276	0.0073	-10	c.30 others(21): Show c.3033_*3042delGTGTGTGTGT		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding					392		chr2	TogoVar
SPRED2_chr2_65305851_65437599	65322229	CCTCTCTC others(3): Show CCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02897.hp1 HG02922.hp1 others(1): Show HG02818.hp1 HG02897.hp1 HG02922.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001	a0001c0001t0002g0064 a0001c0001t0006g0238 a0001c0002t0001g0254 others(1): Show a0001c0001t0002g0064 a0001c0001t0006g0238 a0001c0002t0001g0254 a0001c0002t0001g0256	4	276	0.0145	-10	c.439 others(27): Show c.439-5356_439-5347delAGAGAGAGAG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65322262	CTCTCTCT others(3): Show CTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02559.hp2 HG02896.hp1 others(1): Show HG01074.hp1 HG02559.hp2 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001	a0001c0001t0005g0214 a0001c0001t0006g0236 a0001c0001t0006g0237 others(1): Show a0001c0001t0005g0214 a0001c0001t0006g0236 a0001c0001t0006g0237 a0001c0002t0001g0255	4	276	0.0145	-10	c.439 others(27): Show c.439-5389_439-5380delTAGAGAGAGA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65322264	CTCTCTCT others(3): Show CTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0066 a0001c0002t0004g0066	1	276	0.0036	-10	c.439 others(27): Show c.439-5391_439-5382delTATAGAGAGA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65327713	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	276	0.0036	-10	c.438 others(27): Show c.438+4264_438+4273delAAAAAAAAAA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	4/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65356525	CCCAGTTC others(3): Show CCCAGTTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0104 a0001c0002t0001g0104	1	276	0.0036	-10	c.27- others(27): Show c.27-11639_27-11630delAGGGAACTGG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65401933	GCGCGCAC others(3): Show GCGCGCACACA	G G	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0190	1	276	0.0036	-10	c.26+ others(27): Show c.26+30019_26+30028delTGTGTGCGCG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65419577	TTGTGTGT others(3): Show TTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03239.hp1 HG01496.hp1 HG03239.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0102 a0001c0002t0002g0057 a0001c0002t0001g0102 a0001c0002t0002g0057	2	276	0.0073	-10	c.26+ others(27): Show c.26+12375_26+12384delCACACACACA		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRED2_chr2_65305851_65437599	65422104	ACTCTCTC others(3): Show ACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	276	0.0036	-10	c.26+ others(25): Show c.26+9848_26+9857delAGAGAGAGAG		SPRED2	ENSG00000198369.10	transcript	ENST00000356388.9	protein_coding	1/5						chr2	TogoVar
SPRN_chr10_133415666_133429625	133429066	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01256.hp2 HG01884.hp2 others(30): Show HG01069.hp2 HG01256.hp2 HG01884.hp2 HG02109.hp1 HG02129.hp2 HG02258.hp1 HG02897.hp1 HG03098.hp1 HG03490.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18945.hp1 NA18951.hp1 NA18956.hp2 NA18962.hp1 NA18969.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp2 NA19002.hp2 NA19003.hp1 NA19010.hp2 NA19012.hp2 NA19065.hp1 NA19077.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0006 a0003c0008 a0004c0005 a0007c0009	a0001c0001t0002 a0001c0001t0021 a0001c0001t0052 others(14): Show a0001c0001t0002 a0001c0001t0021 a0001c0001t0052 a0002c0002t0009 a0002c0002t0012 a0002c0002t0013 a0002c0002t0014 a0002c0002t0015 a0002c0002t0036 a0002c0002t0037 a0002c0002t0038 a0002c0003t0003 a0002c0003t0011 a0002c0006t0016 a0003c0008t0003 a0004c0005t0009 a0007c0009t0002	a0001c0001t0002g0002 a0001c0001t0021g0025 a0001c0001t0052g0080 others(14): Show a0001c0001t0002g0002 a0001c0001t0021g0025 a0001c0001t0052g0080 a0002c0002t0009g0067 a0002c0002t0012g0007 a0002c0002t0013g0015 a0002c0002t0014g0016 a0002c0002t0015g0017 a0002c0002t0036g0059 a0002c0002t0037g0060 a0002c0002t0038g0061 a0002c0003t0003g0038 a0002c0003t0011g0006 a0002c0006t0016g0033 a0003c0008t0003g0039 a0004c0005t0009g0010 a0007c0009t0002g0090	33	474	0.0696	-10	c.-46 others(21): Show c.-4620_-4611delTTTTTTTTTT		SPRN	ENSG00000203772.8	transcript	ENST00000685335.1	protein_coding					4442		chr10	TogoVar
SPRR2A_chr1_153051120_153062512	153052395	GACACACA others(3): Show GACACACACAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG03486.hp1 HG02109.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0002t0001g0007 a0001c0001t0001g0005 a0001c0002t0001g0007	2	442	0.0045	-10	c.41 others(21): Show c.4112_*4121delGTGTGTGTGT		SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding					3724		chr1	TogoVar
SPRR2A_chr1_153051120_153062512	153062294	GGCTACAC others(3): Show GGCTACACACT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	442	0.0023	-10	c.-48 others(21): Show c.-4853_-4844delAGTGTGTAGC		SPRR2A	ENSG00000241794.2	transcript	ENST00000392653.3	protein_coding					4783		chr1	TogoVar
SPRR2F_chr1_153107121_153118516	153114013	TTTTTTTT others(3): Show TTTTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02809.hp1 HG03139.hp1 others(5): Show HG02723.hp2 HG02809.hp1 HG03139.hp1 HG03209.hp1 HG03453.hp1 HG03516.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	8	436	0.0184	-10	c.-56 others(19): Show c.-569_-560delCAAAAAAAAA		SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding					498		chr1	TogoVar
SPRR2F_chr1_153107121_153118516	153115156	CAGAAATA others(3): Show CAGAAATAAAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0015 a0001c0007t0001g0015	1	436	0.0023	-10	c.-17 others(21): Show c.-1712_-1703delCTTTATTTCT		SPRR2F	ENSG00000244094.2	transcript	ENST00000468739.2	protein_coding					1641		chr1	TogoVar
SPRR5_chr1_152942206_152954255	152944634	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG02922.hp1 others(4): Show HG02055.hp1 HG02630.hp2 HG02922.hp1 HG02970.hp2 HG02976.hp2 HG03579.hp1 NA19030.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0002c0002t0001g0018 a0001c0001t0001g0001 a0001c0001t0001g0016 a0002c0002t0001g0018	7	436	0.0161	-10	c.-26 others(21): Show c.-2632_-2623delGTGTGTGTGC		SPRR5	ENSG00000283227.2	transcript	ENST00000636302.2	protein_coding					2571		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359050	TAAATTAT others(3): Show TAAATTATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0069 a0001c0001t0011g0069	1	352	0.0028	-10	c.56 others(21): Show c.5690_*5699delAAATTATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4028		chr1	TogoVar
SPRTN_chr1_231333293_231360023	231359054	TTATATAT others(3): Show TTATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 NA18953.hp2 NA19001.hp1 HG01928.hp2 NA18953.hp2 NA19001.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0007 a0001c0001 a0003c0003 a0010c0007	a0001c0001t0001 a0003c0003t0001 a0010c0007t0001 a0001c0001t0001 a0003c0003t0001 a0010c0007t0001	a0001c0001t0001g0117 a0003c0003t0001g0083 a0010c0007t0001g0030 a0001c0001t0001g0117 a0003c0003t0001g0083 a0010c0007t0001g0030	3	352	0.0085	-10	c.56 others(21): Show c.5694_*5703delTATATATATA		SPRTN	ENSG00000010072.16	transcript	ENST00000295050.12	protein_coding					4032		chr1	TogoVar
SPRY1_chr4_123391795_123408755	123392545	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0002 a0001c0001t0006g0002	1	410	0.0024	-10	c.-46 others(21): Show c.-4688_-4679delTTTTTTTTTT		SPRY1	ENSG00000164056.11	transcript	ENST00000651917.1	protein_coding					4249		chr4	TogoVar
SPRY2_chr13_80330976_80346126	80337602	GTGAGGGC others(3): Show GTGAGGGCGTC	G G	frameshift_variant frameshift_variant	HIGH	NA19066.hp1 NA19066.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0039 a0003c0005t0002g0039	1	422	0.0024	-10	c.94_ others(16): Show c.94_103delGACGCCCTCA	p.Asp others(4): Show p.Asp32fs	SPRY2	ENSG00000136158.12	transcript	ENST00000377104.4	protein_coding	2/2	659/2286	94/948	32/315			chr13	TogoVar
SPRY3_chrX_155607586_155787459	155638293	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA20805.hp1 NA19083.hp1 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0074 a0001c0002t0100 a0001c0002t0074 a0001c0002t0100	a0001c0002t0074g0008 a0001c0002t0100g0032 a0001c0002t0074g0008 a0001c0002t0100g0032	2	231	0.0087	-10	c.-28 others(31): Show c.-282+25713_-282+25722delATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155654686	GGTGTGTG others(3): Show GGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01243.hp1 others(45): Show HG00423.hp1 HG00609.hp1 HG01243.hp1 HG02027.hp1 HG02056.hp1 HG02165.hp1 HG02258.hp1 HG02523.hp1 HG02630.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03540.hp2 HG04228.hp1 NA18747.hp1 NA18945.hp1 NA18952.hp1 NA18953.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp1 NA18994.hp1 NA18995.hp1 NA19004.hp1 NA19011.hp1 NA19030.hp2 NA19055.hp1 NA19060.hp1 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19082.hp1 NA19086.hp1 NA19088.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(36): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0040 a0001c0001t0048 a0001c0001t0050 a0001c0001t0061 a0001c0001t0075 a0001c0001t0080 a0001c0001t0081 a0001c0001t0088 a0001c0001t0093 a0001c0001t0109 a0001c0001t0110 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0002t0029 a0001c0002t0052 a0001c0002t0076 a0002c0003t0118	a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0193 others(45): Show a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0001g0193 a0001c0001t0002g0127 a0001c0001t0002g0211 a0001c0001t0003g0110 a0001c0001t0004g0126 a0001c0001t0005g0136 a0001c0001t0007g0131 a0001c0001t0008g0204 a0001c0001t0016g0115 a0001c0001t0016g0138 a0001c0001t0017g0171 a0001c0001t0020g0120 a0001c0001t0020g0128 a0001c0001t0024g0133 a0001c0001t0032g0188 a0001c0001t0032g0220 a0001c0001t0033g0178 a0001c0001t0033g0219 a0001c0001t0034g0166 a0001c0001t0034g0189 a0001c0001t0035g0125 a0001c0001t0035g0187 a0001c0001t0040g0129 a0001c0001t0048g0180 a0001c0001t0050g0155 a0001c0001t0061g0143 a0001c0001t0075g0141 a0001c0001t0080g0130 a0001c0001t0081g0108 a0001c0001t0088g0185 a0001c0001t0093g0140 a0001c0001t0109g0135 a0001c0001t0110g0175 a0001c0001t0142g0230 a0001c0001t0143g0202 a0001c0001t0144g0186 a0001c0001t0145g0190 a0001c0001t0146g0184 a0001c0001t0147g0179 a0001c0001t0148g0198 a0001c0001t0149g0151 a0001c0001t0150g0231 a0001c0002t0029g0121 a0001c0002t0052g0176 a0001c0002t0076g0103 a0002c0003t0118g0197	48	231	0.2078	-10	c.-28 others(31): Show c.-282+42078_-282+42087delGTGTGTGTGT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155685362	AGTAAGTC others(3): Show AGTAAGTCCAT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0226 a0001c0001t0132g0226	1	231	0.0043	-10	c.-28 others(31): Show c.-282+72719_-282+72728delAGTCCATGTA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155692169	TAAATGGG others(3): Show TAAATGGGTAC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0053 a0001c0001t0053g0053	1	231	0.0043	-10	c.-28 others(31): Show c.-281-75791_-281-75782delAATGGGTACA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155716981	AATATATA others(3): Show AATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03195.hp2 HG03579.hp1 HG02451.hp1 HG03195.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0036 a0001c0001t0037 a0001c0001t0007 a0001c0001t0036 a0001c0001t0037	a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097 a0001c0001t0007g0099 a0001c0001t0036g0098 a0001c0001t0037g0097	3	231	0.0130	-10	c.-28 others(31): Show c.-281-50959_-281-50950delTATATATATA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155751924	GAAATAAA others(3): Show GAAATAAAATA	G G	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01891.hp1 HG01993.hp2 others(3): Show HG01258.hp1 HG01891.hp1 HG01993.hp2 HG02738.hp1 HG03130.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0106 a0001c0002t0074	a0001c0001t0001g0203 a0001c0001t0002g0007 a0001c0001t0003g0015 others(3): Show a0001c0001t0001g0203 a0001c0001t0002g0007 a0001c0001t0003g0015 a0001c0001t0012g0002 a0001c0001t0106g0018 a0001c0002t0074g0008	6	231	0.0260	-10	c.-28 others(31): Show c.-281-15985_-281-15976delATAAAATAAA		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155765287	GTGAGACA others(3): Show GTGAGACAGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00673.hp1 others(86): Show HG00140.hp1 HG00280.hp1 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01952.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18948.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18988.hp1 NA18990.hp1 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19084.hp2 NA19085.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0005 a0001c0001 a0001c0002 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0027 a0001c0001t0030 a0001c0001t0031 a0001c0001t0036 a0001c0001t0037 a0001c0001t0042 a0001c0001t0043 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0077 a0001c0001t0079 a0001c0001t0082 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0092 a0001c0001t0093 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0106 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0115 a0001c0001t0117 a0001c0001t0122 a0001c0001t0134 a0001c0001t0137 a0001c0002t0029 a0001c0002t0076 a0001c0002t0084 a0001c0002t0094 a0001c0002t0125 a0001c0002t0126 a0001c0002t0131 a0003c0005t0046	a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(86): Show a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0002g0117 a0001c0001t0002g0216 a0001c0001t0003g0015 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0082 a0001c0001t0004g0061 a0001c0001t0005g0065 a0001c0001t0005g0092 a0001c0001t0006g0011 a0001c0001t0006g0021 a0001c0001t0006g0029 a0001c0001t0006g0030 a0001c0001t0006g0048 a0001c0001t0007g0084 a0001c0001t0007g0086 a0001c0001t0007g0099 a0001c0001t0007g0131 a0001c0001t0010g0001 a0001c0001t0010g0083 a0001c0001t0011g0111 a0001c0001t0011g0146 a0001c0001t0011g0148 a0001c0001t0012g0085 a0001c0001t0013g0022 a0001c0001t0013g0041 a0001c0001t0013g0042 a0001c0001t0015g0075 a0001c0001t0018g0033 a0001c0001t0018g0034 a0001c0001t0019g0068 a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0023g0046 a0001c0001t0024g0091 a0001c0001t0027g0026 a0001c0001t0030g0027 a0001c0001t0031g0031 a0001c0001t0031g0037 a0001c0001t0036g0098 a0001c0001t0037g0097 a0001c0001t0042g0070 a0001c0001t0043g0132 a0001c0001t0049g0081 a0001c0001t0051g0079 a0001c0001t0053g0053 a0001c0001t0063g0057 a0001c0001t0064g0066 a0001c0001t0065g0056 a0001c0001t0068g0206 a0001c0001t0069g0109 a0001c0001t0070g0038 a0001c0001t0071g0088 a0001c0001t0072g0028 a0001c0001t0077g0078 a0001c0001t0079g0025 a0001c0001t0082g0122 a0001c0001t0083g0217 a0001c0001t0085g0043 a0001c0001t0086g0090 a0001c0001t0089g0072 a0001c0001t0092g0076 a0001c0001t0093g0140 a0001c0001t0096g0055 a0001c0001t0097g0058 a0001c0001t0099g0095 a0001c0001t0106g0018 a0001c0001t0108g0064 a0001c0001t0110g0175 a0001c0001t0111g0050 a0001c0001t0112g0213 a0001c0001t0113g0019 a0001c0001t0115g0100 a0001c0001t0117g0063 a0001c0001t0122g0107 a0001c0001t0134g0113 a0001c0001t0137g0062 a0001c0002t0029g0121 a0001c0002t0076g0103 a0001c0002t0084g0020 a0001c0002t0094g0051 a0001c0002t0125g0215 a0001c0002t0126g0036 a0001c0002t0131g0012 a0003c0005t0046g0218	89	231	0.3853	-10	c.-28 others(29): Show c.-281-2670_-281-2661delACAGCCTGAG		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155767904	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0099 a0001c0001t0099	a0001c0001t0099g0095 a0001c0001t0099g0095	1	231	0.0043	-10	c.-28 others(25): Show c.-281-31_-281-22delTTTGTTTTGT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRY3_chrX_155607586_155787459	155773307	GATATATA others(3): Show GATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	231	0.0043	-10	c.-10 others(27): Show c.-106-434_-106-425delATATATATAT		SPRY3	ENSG00000168939.13	transcript	ENST00000695325.1	protein_coding	2/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
SPRYD4_chr12_56463578_56484708	56464857	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG02300.hp1 NA18982.hp1 others(2): Show HG00544.hp1 HG02300.hp1 NA18982.hp1 NA18982.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0044 a0001c0001t0001 a0001c0001t0044	a0001c0001t0001g0001 a0001c0001t0044g0001 a0001c0001t0001g0001 a0001c0001t0044g0001	5	370	0.0135	-10	c.-37 others(21): Show c.-3734_-3725delTTTTGTTTTG		SPRYD4	ENSG00000176422.14	transcript	ENST00000338146.7	protein_coding					3720		chr12	TogoVar
SPRYD7_chr13_49907702_49941340	49920249	GCAAAACA others(3): Show GCAAAACAAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp1 HG02965.hp2 others(4): Show HG02451.hp2 HG02818.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp1 HG03453.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0115 a0001c0001t0003g0141 a0001c0001t0003g0012 a0001c0001t0003g0115 a0001c0001t0003g0141	7	380	0.0184	-10	c.493 others(27): Show c.493+1219_493+1228delTTTTGTTTTG		SPRYD7	ENSG00000123178.16	transcript	ENST00000361840.8	protein_coding	4/4						chr13	TogoVar
SPSB1_chr1_9287894_9374532	9292796	GGGGGCGG others(3): Show GGGGGCGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0088 a0001c0003t0003g0088	1	370	0.0027	-10	c.-42 others(19): Show c.-424_-415delGGGGCGGGGC		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding					97		chr1	TogoVar
SPSB1_chr1_9287894_9374532	9348937	ATGTGTGT others(3): Show ATGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0092 a0001c0001t0003g0092	1	370	0.0027	-10	c.-14 others(29): Show c.-149-6788_-149-6779delGTGTGTGTGT		SPSB1	ENSG00000171621.14	transcript	ENST00000328089.11	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr1	TogoVar
SPSB4_chr3_141046347_141153611	141056095	CCAGGAGG others(3): Show CCAGGAGGAGG	C C	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18972.hp1 NA18977.hp1 others(2): Show NA18968.hp2 NA18972.hp1 NA18977.hp1 NA18992.hp2 NA19000.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 others(2): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0016 a0001c0003t0017 a0001c0003t0018	a0001c0003t0002g0023 a0001c0003t0004g0022 a0001c0003t0016g0021 others(2): Show a0001c0003t0002g0023 a0001c0003t0004g0022 a0001c0003t0016g0021 a0001c0003t0017g0219 a0001c0003t0018g0220	5	254	0.0197	-10	c.-15 others(29): Show c.-154+4109_-154+4118delGGAGGCAGGA		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141061715	TTTTTCTT others(3): Show TTTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp2 NA20300.hp1 HG02258.hp1 HG02976.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0036 a0001c0002t0058 a0001c0002t0026 a0001c0002t0036 a0001c0002t0058	a0001c0002t0026g0142 a0001c0002t0036g0143 a0001c0002t0058g0054 a0001c0002t0026g0142 a0001c0002t0036g0143 a0001c0002t0058g0054	3	254	0.0118	-10	c.-15 others(29): Show c.-153-4227_-153-4218delCTTTTCTTTC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141142803	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02647.hp1 HG02965.hp1 others(3): Show HG02055.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0020 a0001c0001t0038 a0001c0002t0061 others(1): Show a0001c0001t0020 a0001c0001t0038 a0001c0002t0061 a0001c0005t0042	a0001c0001t0020g0145 a0001c0001t0020g0155 a0001c0001t0020g0156 others(3): Show a0001c0001t0020g0145 a0001c0001t0020g0155 a0001c0001t0020g0156 a0001c0001t0038g0025 a0001c0002t0061g0112 a0001c0005t0042g0245	6	254	0.0236	-10	c.695 others(27): Show c.695-4317_695-4308delTTTTTTTTTT		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151325	CTTGTGTG others(3): Show CTTGTGTGTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02451.hp1 HG03017.hp2 others(4): Show HG01884.hp1 HG02451.hp1 HG03017.hp2 HG03209.hp1 NA18974.hp2 NA19010.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0024 a0001c0002t0001 a0001c0001t0002 a0001c0001t0024 a0001c0002t0001	a0001c0001t0002g0049 a0001c0001t0002g0164 a0001c0001t0024g0026 others(4): Show a0001c0001t0002g0049 a0001c0001t0002g0164 a0001c0001t0024g0026 a0001c0001t0024g0027 a0001c0002t0001g0032 a0001c0002t0001g0065 a0001c0002t0001g0093	7	254	0.0276	-10	c.40 others(21): Show c.4057_*4066delTTGTGTGTGT		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2715		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151367	TGTGTGTG others(3): Show TGTGTGTGTGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01257.hp1 HG01891.hp1 others(8): Show HG00609.hp1 HG01257.hp1 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02647.hp1 HG02895.hp1 HG02970.hp1 HG04199.hp2 NA19030.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 others(5): Show a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0038 a0001c0002t0001 a0001c0002t0003 a0001c0002t0022 a0001c0002t0052	a0001c0001t0010g0159 a0001c0001t0013g0140 a0001c0001t0015g0178 others(8): Show a0001c0001t0010g0159 a0001c0001t0013g0140 a0001c0001t0015g0178 a0001c0001t0015g0189 a0001c0001t0038g0025 a0001c0002t0001g0097 a0001c0002t0003g0075 a0001c0002t0003g0110 a0001c0002t0003g0137 a0001c0002t0022g0129 a0001c0002t0052g0225	11	254	0.0433	-10	c.40 others(21): Show c.4099_*4108delGTGTGTGTGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2757		chr3	TogoVar
SPSB4_chr3_141046347_141153611	141151369	TGTGTGTG others(3): Show TGTGTGTGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02630.hp1 HG02717.hp1 others(1): Show HG01109.hp2 HG02630.hp1 HG02717.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018	a0001c0001t0009g0148 a0001c0001t0017g0157 a0001c0001t0018g0001 a0001c0001t0009g0148 a0001c0001t0017g0157 a0001c0001t0018g0001	4	254	0.0158	-10	c.41 others(21): Show c.4101_*4110delGTGTGTGCGC		SPSB4	ENSG00000175093.5	transcript	ENST00000310546.3	protein_coding					2759		chr3	TogoVar
SPTA1_chr1_158605704_158691715	158690437	TTTTTGTT others(3): Show TTTTTGTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0058 a0058	a0058c0094 a0058c0094	a0058c0094t0019 a0058c0094t0019	a0058c0094t0019g0152 a0058c0094t0019g0152	1	370	0.0027	-10	c.-39 others(21): Show c.-3930_-3921delCAAAACAAAA		SPTA1	ENSG00000163554.15	transcript	ENST00000643759.2	protein_coding					3723		chr1	TogoVar
SPTAN1_chr9_128547587_128638662	128562983	CATGTATG others(3): Show CATGTATGTGT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0114 a0001c0001t0001g0115	2	312	0.0064	-10	c.-3- others(25): Show c.-3-3752_-3-3743delGTATGTGTAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128562990	GTGTATAT others(3): Show GTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0001 a0001c0016t0001	a0001c0016t0001g0024 a0001c0016t0001g0024	1	312	0.0032	-10	c.-3- others(25): Show c.-3-3746_-3-3737delGTATATATAT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	1/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570326	ATATATTT others(3): Show ATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02647.hp2 HG01257.hp1 HG02647.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0211 a0001c0002t0001g0220 a0001c0002t0001g0211 a0001c0002t0001g0220	2	312	0.0064	-10	c.363 others(27): Show c.363+1431_363+1440delATATTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570328	ATATTTTT others(3): Show ATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG00621.hp1 others(26): Show HG00408.hp1 HG00609.hp2 HG00621.hp1 HG01884.hp1 HG02083.hp1 HG02572.hp2 HG02647.hp1 HG02738.hp2 HG02818.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18948.hp1 NA18948.hp2 NA18957.hp1 NA18961.hp1 NA18977.hp1 NA18977.hp2 NA18994.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0027	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0007t0001 a0001c0027t0001	a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0094 others(26): Show a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0138 a0001c0002t0001g0003 a0001c0002t0001g0207 a0001c0002t0001g0242 a0001c0002t0001g0310 a0001c0002t0001g0311 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0086 a0001c0003t0001g0108 a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0127 a0001c0003t0001g0135 a0001c0003t0001g0144 a0001c0003t0001g0149 a0001c0007t0001g0007 a0001c0007t0001g0008 a0001c0027t0001g0113	29	312	0.0930	-10	c.363 others(27): Show c.363+1433_363+1442delATTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar
SPTAN1_chr9_128547587_128638662	128570330	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02897.hp1 others(4): Show HG02258.hp2 HG02809.hp2 HG02897.hp1 HG02970.hp1 HG03225.hp2 NA18944.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0002t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0092 others(4): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0092 a0001c0001t0001g0303 a0001c0001t0007g0061 a0001c0001t0008g0089 a0001c0002t0001g0305	7	312	0.0224	-10	c.363 others(27): Show c.363+1448_363+1457delTTTTTTTTTT		SPTAN1	ENSG00000197694.19	transcript	ENST00000372739.7	protein_coding	3/56					INFO_REALIGN_3_PRIME	chr9	TogoVar

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