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
SAT1_chrX_23778173_23791210	23781874	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02970.hp1 others(5): Show HG01109.hp1 HG01243.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03195.hp1 NA18906.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0017	8	330	0.0242	-13	c.-14 others(24): Show c.-1477_-1465delAAAAAAAAAAAAA	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		1298		chrX	TogoVar
SAT1_chrX_23778173_23791210	23787556	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02280.hp1 HG02615.hp1 others(14): Show HG01243.hp1 HG02280.hp1 HG02615.hp1 HG02630.hp2 HG02723.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03471.hp1 HG03540.hp2 NA18906.hp1 NA19030.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0036 a0001c0001t0003g0002	17	330	0.0515	-13	c.17 others(24): Show c.1701_*1713delTTTTTTTTTTTTT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		1347		chrX	TogoVar
SATB2_chr2_199264505_199462939	199356225	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG00735.hp1 others(23): Show HG00558.hp2 HG00621.hp2 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp1 HG01192.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp1 HG02055.hp2 HG02071.hp1 HG02273.hp1 HG02523.hp1 HG03239.hp2 HG04115.hp2 HG04199.hp1 NA19005.hp2 NA19074.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027	a0001c0001t0002g0087 a0001c0001t0002g0112 a0001c0001t0002g0129 others(23): Show a0001c0001t0002g0087 a0001c0001t0002g0112 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0162 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0211 a0001c0001t0002g0249 a0001c0001t0009g0134 a0001c0001t0009g0241 a0001c0001t0015g0132 a0001c0001t0021g0001 a0001c0001t0027g0111	26	254	0.1024	-13	c.701 others(30): Show c.701-7065_701-7053delTTTTTTTTTTTTT	SATB2	ENSG00000119042.18	transcript	ENST00000417098.6	protein_coding	6/10			chr2	TogoVar
SATL1_chrX_85087284_85248779	85220467	GTACAGCT others(6): Show GTACAGCTTGTGGC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	232	0.0043	-13	c.-31 others(32): Show c.-313+3725_-313+3737delGCCACAAGCTGTA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SATL1_chrX_85087284_85248779	85220644	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01884.hp1 others(21): Show HG00735.hp2 HG01109.hp1 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG02071.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02630.hp1 HG02723.hp2 HG02809.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03486.hp1 HG03540.hp1 HG03831.hp1 HG06807.hp2 NA18906.hp2 NA18993.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0008c0013	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0003c0003t0001 a0008c0013t0001	a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 others(21): Show a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0228 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0002c0002t0001g0227 a0002c0002t0001g0229 a0002c0002t0003g0003 a0002c0002t0003g0007 a0002c0002t0003g0012 a0002c0002t0003g0013 a0003c0003t0001g0064 a0003c0003t0001g0065 a0003c0003t0001g0066 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0072 a0008c0013t0001g0062	24	232	0.1035	-13	c.-31 others(32): Show c.-313+3548_-313+3560delTTTTTTTTTTTTT	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding	2/7			chrX	TogoVar
SAXO1_chr9_18922650_19038209	18977993	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01256.hp2 HG01433.hp1 others(9): Show HG00438.hp2 HG01256.hp2 HG01433.hp1 HG02257.hp2 HG02630.hp1 HG03041.hp2 HG03139.hp1 HG03579.hp1 NA18747.hp1 NA18906.hp2 NA18954.hp1 NA18984.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0003c0003 a0010c0014 a0001c0001 a0003c0003 a0010c0014	a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0010 a0003c0003t0001 a0003c0003t0003 a0003c0003t0006 a0003c0003t0011 a0010c0014t0007	a0001c0001t0001g0321 a0001c0001t0010g0312 a0001c0001t0010g0334 others(9): Show a0001c0001t0001g0321 a0001c0001t0010g0312 a0001c0001t0010g0334 a0001c0001t0010g0337 a0001c0001t0010g0339 a0003c0003t0001g0303 a0003c0003t0001g0304 a0003c0003t0001g0305 a0003c0003t0003g0173 a0003c0003t0006g0139 a0003c0003t0011g0172 a0010c0014t0007g0302	12	364	0.0330	-13	c.39- others(30): Show c.39-27069_39-27057delTTTTTTTTTTTTT	SAXO1	ENSG00000155875.15	transcript	ENST00000380534.9	protein_coding	1/3			chr9	TogoVar
SAYSD1_chr6_39099063_39120186	39119531	TGTGGTGG others(6): Show TGTGGTGGGGTATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0010 a0001c0001t0008g0010	1	460	0.0022	-13	c.-44 others(24): Show c.-4455_-4443delTATACCCCACCAC	SAYSD1	ENSG00000112167.11	transcript	ENST00000229903.5	protein_coding		4346		chr6	TogoVar
SBDS_chr7_66982680_67000586	66999009	CCTTTAGC others(6): Show CCTTTAGCAGTGAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0199 a0001c0001t0003g0199	1	438	0.0023	-13	c.-36 others(24): Show c.-3605_-3593delTTCACTGCTAAAG	SBDS	ENSG00000126524.12	transcript	ENST00000246868.7	protein_coding		3424		chr7	TogoVar
SBF1_chr22_50440000_50480035	50445916	CCCACCTG others(6): Show CCCACCTGAGAGGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG00621.hp2 others(100): Show HG00423.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01109.hp2 HG01243.hp1 HG01358.hp1 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02132.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02723.hp1 HG02818.hp2 HG02922.hp2 HG03139.hp1 HG03239.hp2 HG03471.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG04228.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18982.hp2 NA18992.hp2 NA18993.hp2 NA18997.hp1 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2	a0001 a0003 a0005 others(8): Show a0001 a0003 a0005 a0011 a0012 a0013 a0018 a0022 a0032 a0033 a0036	a0001c0001 a0001c0002 a0001c0003 others(27): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0020 a0001c0034 a0001c0045 a0001c0046 a0001c0054 a0001c0055 a0001c0061 a0001c0074 a0001c0078 a0001c0079 a0001c0080 a0001c0081 a0001c0086 a0003c0012 a0005c0023 a0011c0063 a0012c0058 a0013c0044 a0018c0062 a0022c0083 a0032c0048 a0033c0024 a0036c0060	a0001c0001t0021 a0001c0001t0026 a0001c0001t0063 others(63): Show a0001c0001t0021 a0001c0001t0026 a0001c0001t0063 a0001c0001t0118 a0001c0001t0140 a0001c0002t0002 a0001c0002t0004 a0001c0002t0010 a0001c0002t0013 a0001c0002t0016 a0001c0002t0023 a0001c0002t0033 a0001c0002t0034 a0001c0002t0038 a0001c0002t0042 a0001c0002t0054 a0001c0002t0098 a0001c0002t0100 a0001c0002t0103 a0001c0002t0116 a0001c0002t0117 a0001c0002t0119 a0001c0002t0122 a0001c0002t0125 a0001c0002t0134 a0001c0002t0156 a0001c0003t0002 a0001c0003t0033 a0001c0003t0139 a0001c0003t0148 a0001c0004t0135 a0001c0005t0153 a0001c0006t0004 a0001c0006t0010 a0001c0006t0013 a0001c0006t0016 a0001c0006t0026 a0001c0006t0037 a0001c0006t0097 a0001c0006t0147 a0001c0008t0002 a0001c0008t0010 a0001c0020t0002 a0001c0020t0033 a0001c0034t0108 a0001c0045t0038 a0001c0046t0114 a0001c0054t0099 a0001c0055t0010 a0001c0061t0021 a0001c0074t0158 a0001c0078t0126 a0001c0079t0128 a0001c0080t0127 a0001c0081t0144 a0001c0086t0166 a0003c0012t0004 a0005c0023t0043 a0011c0063t0002 a0012c0058t0002 a0013c0044t0002 a0018c0062t0013 a0022c0083t0034 a0032c0048t0010 a0033c0024t0087 a0036c0060t0021	a0001c0001t0021g0015 a0001c0001t0021g0018 a0001c0001t0026g0045 others(96): Show a0001c0001t0021g0015 a0001c0001t0021g0018 a0001c0001t0026g0045 a0001c0001t0063g0017 a0001c0001t0118g0324 a0001c0001t0140g0251 a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0136 a0001c0002t0002g0156 a0001c0002t0002g0178 a0001c0002t0004g0133 a0001c0002t0004g0140 a0001c0002t0004g0145 a0001c0002t0004g0157 a0001c0002t0004g0158 a0001c0002t0004g0177 a0001c0002t0004g0181 a0001c0002t0004g0182 a0001c0002t0010g0138 a0001c0002t0010g0147 a0001c0002t0010g0148 a0001c0002t0010g0150 a0001c0002t0010g0153 a0001c0002t0013g0152 a0001c0002t0013g0159 a0001c0002t0013g0164 a0001c0002t0013g0165 a0001c0002t0013g0176 a0001c0002t0016g0149 a0001c0002t0016g0154 a0001c0002t0016g0155 a0001c0002t0016g0168 a0001c0002t0023g0115 a0001c0002t0023g0118 a0001c0002t0023g0120 a0001c0002t0023g0123 a0001c0002t0033g0151 a0001c0002t0034g0345 a0001c0002t0034g0348 a0001c0002t0038g0072 a0001c0002t0042g0116 a0001c0002t0042g0122 a0001c0002t0054g0346 a0001c0002t0054g0347 a0001c0002t0098g0121 a0001c0002t0100g0119 a0001c0002t0103g0137 a0001c0002t0116g0173 a0001c0002t0117g0172 a0001c0002t0119g0236 a0001c0002t0122g0174 a0001c0002t0125g0166 a0001c0002t0134g0143 a0001c0002t0156g0139 a0001c0003t0002g0301 a0001c0003t0033g0321 a0001c0003t0139g0290 a0001c0003t0148g0297 a0001c0004t0135g0205 a0001c0005t0153g0196 a0001c0006t0004g0132 a0001c0006t0010g0144 a0001c0006t0013g0141 a0001c0006t0016g0134 a0001c0006t0026g0069 a0001c0006t0026g0070 a0001c0006t0037g0012 a0001c0006t0037g0013 a0001c0006t0097g0117 a0001c0006t0147g0146 a0001c0008t0002g0328 a0001c0008t0010g0327 a0001c0020t0002g0318 a0001c0020t0033g0319 a0001c0034t0108g0330 a0001c0045t0038g0044 a0001c0046t0114g0179 a0001c0054t0099g0124 a0001c0055t0010g0160 a0001c0061t0021g0019 a0001c0074t0158g0349 a0001c0078t0126g0169 a0001c0079t0128g0171 a0001c0080t0127g0170 a0001c0081t0144g0331 a0001c0086t0166g0364 a0003c0012t0004g0142 a0003c0012t0004g0161 a0003c0012t0004g0175 a0005c0023t0043g0005 a0011c0063t0002g0162 a0012c0058t0002g0304 a0013c0044t0002g0130 a0018c0062t0013g0163 a0022c0083t0034g0350 a0032c0048t0010g0131 a0033c0024t0087g0077 a0036c0060t0021g0016	103	402	0.2562	-13	c.12 others(24): Show c.1213_*1225delTCCTCTCAGGTGG	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	41/41	1213		chr22	TogoVar
SBF1_chr22_50440000_50480035	50456453	GCCCCCAC others(6): Show GCCCCCACCCTCAC	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp1 HG02647.hp1 others(12): Show HG02055.hp1 HG02630.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03516.hp1 HG03540.hp1 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp2 NA20129.hp2	a0001 a0014 a0001 a0014	a0001c0007 a0001c0014 a0001c0022 others(1): Show a0001c0007 a0001c0014 a0001c0022 a0014c0089	a0001c0007t0020 a0001c0007t0036 a0001c0007t0167 others(6): Show a0001c0007t0020 a0001c0007t0036 a0001c0007t0167 a0001c0007t0173 a0001c0014t0174 a0001c0014t0175 a0001c0014t0176 a0001c0022t0024 a0014c0089t0169	a0001c0007t0020g0011 a0001c0007t0020g0382 a0001c0007t0020g0383 others(11): Show a0001c0007t0020g0011 a0001c0007t0020g0382 a0001c0007t0020g0383 a0001c0007t0020g0385 a0001c0007t0036g0380 a0001c0007t0036g0381 a0001c0007t0036g0384 a0001c0007t0167g0387 a0001c0007t0173g0367 a0001c0014t0174g0365 a0001c0014t0175g0378 a0001c0014t0176g0366 a0001c0022t0024g0268 a0014c0089t0169g0386	15	402	0.0373	-13	c.408 others(28): Show c.4086+26_4086+38delGTGAGGGTGGGGG	SBF1	ENSG00000100241.22	transcript	ENST00000380817.8	protein_coding	30/40			chr22	TogoVar
SBF2_chr11_9773668_10299219	9817903	AAATAAAA others(6): Show AAATAAAATAAATG	A A	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0127 a0002c0002t0001g0127	1	224	0.0045	-13	c.379 others(30): Show c.3794-892_3794-880delCATTTATTTTATT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	28/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10089727	TCTGGTCC others(6): Show TCTGGTCCACAAGC	T T	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA19005.hp2 NA19012.hp2 others(3): Show NA18986.hp1 NA19005.hp2 NA19012.hp2 NA19058.hp2 NA19066.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0019 a0001c0001 a0001c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0019t0002	a0001c0001t0001g0123 a0001c0001t0003g0091 a0001c0001t0003g0100 others(3): Show a0001c0001t0001g0123 a0001c0001t0003g0091 a0001c0001t0003g0100 a0001c0001t0008g0092 a0001c0001t0008g0093 a0001c0019t0002g0090	6	224	0.0268	-13	c.142 others(32): Show c.142-46759_142-46747delGCTTGTGGACCAG	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	2/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10254900	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01257.hp1 HG02145.hp1 others(5): Show HG00738.hp1 HG01257.hp1 HG02145.hp1 HG02280.hp1 HG02965.hp1 HG03669.hp1 NA18522.hp1 NA19082.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0002g0043 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0047 a0001c0001t0002g0043 a0001c0001t0004g0006 a0001c0001t0004g0008 a0001c0001t0006g0007 a0001c0001t0017g0181 a0002c0002t0001g0003	8	224	0.0357	-13	c.55+ others(30): Show c.55+39102_55+39114delTTTTTTTTTTTTT	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10279105	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02109.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0187 a0001c0001t0005g0192 a0001c0001t0005g0187 a0001c0001t0005g0192	2	224	0.0089	-13	c.55+ others(30): Show c.55+14897_55+14909delTTTTTTTTTTTTA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBF2_chr11_9773668_10299219	10293916	CTCCCCGA others(6): Show CTCCCCGACGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0206 a0001c0001t0005g0207 a0001c0001t0005g0206 a0001c0001t0005g0207	2	224	0.0089	-13	c.55+ others(24): Show c.55+86_55+98delCGGGCGTCGGGGA	SBF2	ENSG00000133812.18	transcript	ENST00000256190.13	protein_coding	1/39			chr11	TogoVar
SBK1_chr16_28287525_28328849	28308450	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0112 a0001c0001t0112	a0001c0001t0112g0196 a0001c0001t0112g0196	1	384	0.0026	-13	c.-7- others(28): Show c.-7-8913_-7-8901delTTTTTTTTTTTTT	SBK1	ENSG00000188322.8	transcript	ENST00000341901.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
SBK2_chr19_55523611_55542133	55533659	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02258.hp2 others(3): Show HG01433.hp1 HG01981.hp2 HG02258.hp2 HG02615.hp1 HG02698.hp2 NA18984.hp2	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0004 a0004c0005 a0007c0009 a0001c0004 a0004c0005 a0007c0009	a0001c0004t0001 a0001c0004t0004 a0004c0005t0005 others(2): Show a0001c0004t0001 a0001c0004t0004 a0004c0005t0005 a0007c0009t0042 a0007c0009t0043	a0001c0004t0001g0200 a0001c0004t0004g0170 a0001c0004t0004g0199 others(3): Show a0001c0004t0001g0200 a0001c0004t0004g0170 a0001c0004t0004g0199 a0004c0005t0005g0291 a0007c0009t0042g0156 a0007c0009t0043g0216	6	434	0.0138	-13	c.254 others(30): Show c.254-2327_254-2315delTTTTTTTTTTTTT	SBK2	ENSG00000187550.9	transcript	ENST00000413299.6	protein_coding	2/3			chr19	TogoVar
SBK3_chr19_55535656_55550543	55542514	TCCATCCA others(6): Show TCCATCCATCCACC	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	438	0.0023	-13	c.400 others(29): Show c.400-1001_400-989delGGTGGATGGATGG	SBK3	ENSG00000231274.5	transcript	ENST00000612221.1	protein_coding	3/3			chr19	TogoVar
SBNO1_chr12_123284109_123369847	123331469	TTTTTTGT others(6): Show TTTTTTGTTTTGTA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0025 a0001c0005t0025	a0001c0005t0025g0201 a0001c0005t0025g0201	1	260	0.0039	-13	c.910 others(27): Show c.910-107_910-95delTACAAAACAAAAA	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	7/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123358755	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0055 a0002c0004t0002g0055	1	260	0.0039	-13	c.-1+ others(28): Show c.-1+5933_-1+5945delCTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
SBNO1_chr12_123284109_123369847	123362435	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02683.hp1 HG02717.hp1 others(4): Show HG01175.hp2 HG02683.hp1 HG02717.hp1 HG03471.hp2 NA18951.hp2 NA19064.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0003c0007	a0001c0001t0083 a0001c0005t0048 a0001c0006t0011 others(1): Show a0001c0001t0083 a0001c0005t0048 a0001c0006t0011 a0003c0007t0039	a0001c0001t0083g0124 a0001c0005t0048g0118 a0001c0006t0011g0002 others(4): Show a0001c0001t0083g0124 a0001c0005t0048g0118 a0001c0006t0011g0002 a0001c0006t0011g0003 a0001c0006t0011g0004 a0001c0006t0011g0023 a0003c0007t0039g0005	7	260	0.0269	-13	c.-1+ others(28): Show c.-1+2253_-1+2265delTTTTTTTTTTTTT	SBNO1	ENSG00000139697.14	transcript	ENST00000602398.3	protein_coding	1/31			chr12	TogoVar
SCAF4_chr21_31666000_31737118	31735263	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02723.hp2 HG02886.hp2 others(3): Show HG00639.hp2 HG02723.hp2 HG02886.hp2 HG02922.hp1 HG03540.hp1 NA18963.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0001 a0001c0002t0002 a0001c0004t0001	a0001c0002t0002g0183 a0001c0004t0001g0187 a0001c0004t0001g0188 others(3): Show a0001c0002t0002g0183 a0001c0004t0001g0187 a0001c0004t0001g0188 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0004t0001g0220	6	352	0.0171	-13	c.-35 others(24): Show c.-3584_-3572delTTTTTTTTTTTTT	SCAF4	ENSG00000156304.15	transcript	ENST00000286835.12	protein_coding		3146		chr21	TogoVar
SCAF8_chr6_154728416_154839221	154790489	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp2 HG02602.hp1 others(8): Show HG01515.hp1 HG01516.hp2 HG02602.hp1 HG02735.hp1 HG02965.hp1 HG03017.hp1 HG03139.hp2 HG03516.hp2 HG04204.hp2 NA18522.hp1 NA18941.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0005 a0002c0004t0001 a0001c0001t0001 a0001c0001t0005 a0002c0004t0001	a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0119 others(8): Show a0001c0001t0001g0091 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0136 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0005g0152 a0001c0001t0005g0209 a0002c0004t0001g0187 a0002c0004t0001g0188	11	282	0.0390	-13	c.322 others(30): Show c.322-2307_322-2295delTTTTTTTTTTTTT	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	4/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAF8_chr6_154728416_154839221	154831703	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 NA19056.hp2 HG00597.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0180 a0001c0001t0001g0108 a0001c0001t0001g0180	2	282	0.0071	-13	c.236 others(30): Show c.2360-209_2360-197delAAAAAAAAAAAAA	SCAF8	ENSG00000213079.10	transcript	ENST00000367178.8	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SCAI_chr9_124937608_125148528	125092131	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18953.hp2 HG03139.hp1 NA18953.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0010 a0002c0002t0001 a0001c0001t0010 a0002c0002t0001	a0001c0001t0010g0215 a0002c0002t0001g0001 a0001c0001t0010g0215 a0002c0002t0001g0001	2	306	0.0065	-13	c.99- others(30): Show c.99-36137_99-36125delTTTTTTTTTTTTT	SCAI	ENSG00000173611.18	transcript	ENST00000336505.11	protein_coding	2/17			chr9	TogoVar
SCAMP1_chr5_78355617_78485739	78392179	ATTACTCT others(6): Show ATTACTCTTATCAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp1 HG02818.hp1 others(2): Show HG02109.hp2 HG02723.hp1 HG02818.hp1 HG02895.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0061 others(2): Show a0001c0001t0010g0004 a0001c0001t0010g0005 a0001c0001t0010g0061 a0001c0001t0010g0062 a0001c0001t0010g0063	5	332	0.0151	-13	c.135 others(30): Show c.135+3268_135+3280delACTCTTATCAGTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78443653	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03471.hp1 HG00733.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0263 a0001c0001t0005g0264 a0001c0001t0005g0263 a0001c0001t0005g0264	2	332	0.0060	-13	c.633 others(30): Show c.633-6268_633-6256delTTTTTTTTTTTTT	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP1_chr5_78355617_78485739	78469900	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0010 a0001c0002t0012g0010	1	332	0.0030	-13	c.853 others(30): Show c.853-5591_853-5579delCAAAAAAAAAAAA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCAMP2_chr15_74838730_74878365	74874637	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0142 a0001c0001t0010g0142	1	386	0.0026	-13	c.-13 others(24): Show c.-1395_-1383delTTTTTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1273		chr15	TogoVar
SCAMP2_chr15_74838730_74878365	74874652	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0031 a0002c0002t0007g0031	1	386	0.0026	-13	c.-14 others(24): Show c.-1410_-1398delATATTTTTTTTTT	SCAMP2	ENSG00000140497.16	transcript	ENST00000268099.13	protein_coding		1288		chr15	TogoVar
SCAMP4_chr19_1900399_1931013	1903548	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	442	0.0023	-13	c.-19 others(24): Show c.-1932_-1920delTTTTTTTTTTTTT	SCAMP4	ENSG00000227500.11	transcript	ENST00000316097.13	protein_coding		1850		chr19	TogoVar
SCAMP5_chr15_74990563_75026495	74990943	GTTCTTTC others(6): Show GTTCTTTCTCTTCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02622.hp2 HG03831.hp1 HG01884.hp2 HG02622.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0010 a0001c0001t0001g0140	3	370	0.0081	-13	c.-47 others(24): Show c.-4778_-4766delTTCTTTCTCTTCT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4619		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	74990992	CTCTCTTT others(6): Show CTCTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	370	0.0027	-13	c.-47 others(24): Show c.-4729_-4717delTCTCTTTCTTTCT	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding		4570		chr15	TogoVar
SCAMP5_chr15_74990563_75026495	75001869	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 NA18906.hp1 HG03453.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0020 a0001c0002t0003 a0001c0002t0020	a0001c0002t0003g0043 a0001c0002t0020g0043 a0001c0002t0003g0043 a0001c0002t0020g0043	2	370	0.0054	-13	c.-49 others(30): Show c.-49+6213_-49+6225delAAAAAAAAAAAAA	SCAMP5	ENSG00000198794.12	transcript	ENST00000425597.8	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCAND3_chr6_28565535_28592298	28589844	GTTTTTTT others(6): Show GTTTTTTTGTTTGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	431	0.0023	-13	c.-31 others(24): Show c.-3140_-3128delACAAACAAAAAAA	SCAND3	ENSG00000232040.4	transcript	ENST00000452236.3	protein_coding		2547		chr6	TogoVar
SCAPER_chr15_76342904_76910340	76431676	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0294 a0002c0003t0002g0294	1	312	0.0032	-13	c.331 others(32): Show c.3311+2389_3311+2401delTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	26/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76497989	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0156 a0001c0001t0003g0156	1	312	0.0032	-13	c.295 others(32): Show c.2954+6857_2954+6869delTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	24/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76551108	CAGGAACA others(6): Show CAGGAACATAAATT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(95): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01978.hp1 HG01993.hp1 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02622.hp1 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG04204.hp2 HG06807.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18952.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19012.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19083.hp1 NA19085.hp2 NA19090.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0005 a0001c0007 others(4): Show a0001c0001 a0001c0005 a0001c0007 a0001c0012 a0001c0017 a0002c0003 a0009c0016	a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 others(6): Show a0001c0001t0001 a0001c0001t0008 a0001c0005t0001 a0001c0007t0001 a0001c0007t0010 a0001c0012t0001 a0001c0017t0001 a0002c0003t0006 a0009c0016t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(95): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0138 a0001c0001t0001g0160 a0001c0001t0001g0311 a0001c0001t0008g0101 a0001c0005t0001g0018 a0001c0005t0001g0042 a0001c0005t0001g0058 a0001c0005t0001g0059 a0001c0005t0001g0060 a0001c0005t0001g0310 a0001c0007t0001g0025 a0001c0007t0001g0026 a0001c0007t0001g0027 a0001c0007t0001g0029 a0001c0007t0010g0028 a0001c0012t0001g0071 a0001c0012t0001g0072 a0001c0017t0001g0063 a0002c0003t0006g0196 a0009c0016t0001g0053	98	312	0.3141	-13	c.283 others(34): Show c.2838+23037_2838+23049delAATTTATGTTCCT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	23/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76667625	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00597.hp1 HG00741.hp1 others(55): Show HG00140.hp2 HG00597.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp2 HG01106.hp1 HG01169.hp1 HG01258.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp1 HG02074.hp1 HG02080.hp1 HG02132.hp2 HG02300.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03710.hp2 HG04184.hp1 HG04204.hp1 NA18939.hp2 NA18944.hp2 NA18946.hp2 NA18960.hp1 NA18961.hp2 NA18965.hp2 NA18970.hp1 NA18977.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp1 NA18993.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19063.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19079.hp1 NA19090.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0012 a0001 a0002 a0012	a0001c0001 a0001c0014 a0002c0002 others(6): Show a0001c0001 a0001c0014 a0002c0002 a0002c0003 a0002c0011 a0002c0015 a0002c0022 a0002c0023 a0012c0024	a0001c0001t0001 a0001c0014t0001 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0014t0001 a0002c0002t0002 a0002c0003t0007 a0002c0011t0002 a0002c0015t0002 a0002c0022t0002 a0002c0023t0002 a0012c0024t0002	a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0099 others(55): Show a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0014t0001g0184 a0002c0002t0002g0190 a0002c0002t0002g0222 a0002c0002t0002g0223 a0002c0002t0002g0226 a0002c0002t0002g0230 a0002c0002t0002g0232 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0272 a0002c0002t0002g0274 a0002c0002t0002g0276 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0283 a0002c0002t0002g0292 a0002c0002t0002g0293 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0003t0007g0250 a0002c0011t0002g0225 a0002c0011t0002g0275 a0002c0011t0002g0285 a0002c0015t0002g0277 a0002c0022t0002g0290 a0002c0023t0002g0229 a0012c0024t0002g0284	58	312	0.1859	-13	c.250 others(32): Show c.2509-1849_2509-1837delTTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	20/31			chr15	TogoVar
SCAPER_chr15_76342904_76910340	76813243	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18985.hp2 NA18993.hp2 HG02056.hp1 NA18985.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0088 a0001c0001t0001g0061 a0001c0001t0001g0069 a0001c0001t0001g0088	3	312	0.0096	-13	c.394 others(30): Show c.394-8623_394-8611delGTTTTTTTTTTTT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	5/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865578	TATATATA others(6): Show TATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0017 a0001c0004t0017	a0001c0004t0017g0279 a0001c0004t0017g0279	1	314	0.0032	-13	c.63 others(24): Show c.6343_*6355delTATATATATATAT	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4304		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865783	ATATATTT others(6): Show ATATATTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00558.hp1 HG02451.hp2 others(14): Show HG00438.hp1 HG00558.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp2 HG02895.hp2 HG03669.hp2 HG04228.hp1 NA18968.hp2 NA18972.hp1 NA18979.hp1 NA18998.hp1 NA19062.hp1 NA19091.hp2 NA19240.hp2 NA20905.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0007 a0001c0008 a0001c0026 a0002c0016 a0002c0017 a0004c0030	a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 others(10): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0009 a0001c0003t0040 a0001c0005t0004 a0001c0005t0009 a0001c0007t0002 a0001c0007t0004 a0001c0008t0004 a0001c0026t0009 a0002c0016t0009 a0002c0017t0001 a0004c0030t0004	a0001c0001t0001g0239 a0001c0003t0001g0256 a0001c0003t0009g0013 others(14): Show a0001c0001t0001g0239 a0001c0003t0001g0256 a0001c0003t0009g0013 a0001c0003t0040g0030 a0001c0005t0004g0169 a0001c0005t0004g0226 a0001c0005t0004g0245 a0001c0005t0004g0263 a0001c0005t0009g0091 a0001c0007t0002g0097 a0001c0007t0004g0121 a0001c0008t0004g0228 a0001c0008t0004g0289 a0001c0026t0009g0080 a0002c0016t0009g0066 a0002c0017t0001g0303 a0004c0030t0004g0201	17	314	0.0541	-13	c.61 others(24): Show c.6138_*6150delAAAAAAAAATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4099		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865785	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01106.hp2 HG01192.hp2 others(13): Show HG00323.hp2 HG01106.hp2 HG01192.hp2 HG01361.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp2 HG02809.hp2 HG02896.hp2 HG03834.hp2 NA18950.hp2 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp1 NA18978.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0008 a0002c0016 a0004c0012 a0012c0036	a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 others(10): Show a0001c0001t0002 a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0051 a0001c0003t0009 a0001c0003t0026 a0001c0005t0004 a0001c0005t0038 a0001c0008t0004 a0002c0016t0009 a0004c0012t0002 a0012c0036t0004	a0001c0001t0002g0051 a0001c0001t0014g0151 a0001c0002t0001g0188 others(13): Show a0001c0001t0002g0051 a0001c0001t0014g0151 a0001c0002t0001g0188 a0001c0002t0001g0210 a0001c0002t0001g0255 a0001c0002t0001g0276 a0001c0002t0002g0110 a0001c0002t0051g0113 a0001c0003t0009g0036 a0001c0003t0026g0128 a0001c0005t0004g0158 a0001c0005t0038g0081 a0001c0008t0004g0302 a0002c0016t0009g0092 a0004c0012t0002g0074 a0012c0036t0004g0278	16	314	0.0510	-13	c.61 others(24): Show c.6136_*6148delAAAAAAAAAAATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4097		chr8	TogoVar
SCARA5_chr8_27864883_27997673	27865787	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp2 HG03579.hp1 HG01496.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0004 a0001c0002t0001 a0001c0003t0004	a0001c0002t0001g0230 a0001c0003t0004g0172 a0001c0002t0001g0230 a0001c0003t0004g0172	2	314	0.0064	-13	c.61 others(24): Show c.6134_*6146delAAAAAAAAAAAAA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4095		chr8	TogoVar
SCARB1_chr12_124771856_124868864	124803689	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp2 HG02257.hp2 others(13): Show HG01884.hp2 HG02055.hp2 HG02257.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02717.hp2 HG02922.hp2 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0006 others(1): Show a0001c0001 a0001c0004 a0002c0006 a0003c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0004t0011 a0001c0004t0014 a0001c0004t0015 a0002c0006t0006 a0003c0009t0003	a0001c0001t0001g0223 a0001c0001t0003g0023 a0001c0001t0003g0029 others(13): Show a0001c0001t0001g0223 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0183 a0001c0001t0003g0328 a0001c0001t0005g0045 a0001c0001t0008g0036 a0001c0001t0008g0037 a0001c0001t0008g0127 a0001c0001t0008g0233 a0001c0004t0011g0119 a0001c0004t0014g0190 a0001c0004t0015g0044 a0001c0004t0015g0059 a0002c0006t0006g0010 a0003c0009t0003g0123	16	356	0.0449	-13	c.101 others(32): Show c.1010-3460_1010-3448delTTTTTTTTTTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	7/12			chr12	TogoVar
SCARF1_chr17_1628858_1650732	1630076	CAAAATAA others(6): Show CAAAATAAAAACCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	401	0.0025	-13	c.46 others(24): Show c.4669_*4681delTGGTTTTTATTTT	SCARF1	ENSG00000074660.17	transcript	ENST00000263071.9	protein_coding		3781		chr17	TogoVar
SCD5_chr4_82624539_82803796	82641253	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02615.hp1 HG01167.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0032 a0001c0001t0028 a0001c0001t0032	a0001c0001t0028g0058 a0001c0001t0032g0194 a0001c0001t0028g0058 a0001c0001t0032g0194	2	210	0.0095	-13	c.570 others(30): Show c.570-4443_570-4431delTTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	3/4			chr4	TogoVar
SCD5_chr4_82624539_82803796	82687177	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02615.hp2 others(8): Show HG01884.hp2 HG02280.hp2 HG02615.hp2 HG02717.hp1 HG02818.hp2 HG02896.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0022 a0001c0001t0033	a0001c0001t0002g0099 a0001c0001t0003g0012 a0001c0001t0003g0048 others(8): Show a0001c0001t0002g0099 a0001c0001t0003g0012 a0001c0001t0003g0048 a0001c0001t0003g0073 a0001c0001t0003g0094 a0001c0001t0003g0111 a0001c0001t0003g0188 a0001c0001t0009g0193 a0001c0001t0018g0001 a0001c0001t0022g0182 a0001c0001t0033g0210	11	210	0.0524	-13	c.364 others(30): Show c.364-6278_364-6266delCTTTTTTTTTTTT	SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	2/4			chr4	TogoVar
SCFD1_chr14_30617319_30740850	30677827	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0326 a0002c0002t0001g0326	1	328	0.0031	-13	c.124 others(32): Show c.1242+2781_1242+2793delTTTTTTTTTTTTT	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52876756	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	162	0.0062	-13	c.196 others(32): Show c.1963-2708_1963-2696delTTTTTTTTTTTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8			chr4	TogoVar

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