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
SETBP1_chr18_44675888_45073510	44703348	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0031 a0001c0005t0002g0031	1	140	0.0071	13	c.486 others(30): Show c.486+1550_486+1562dupTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44885842	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01255.hp1 HG02647.hp1 others(3): Show HG01070.hp2 HG01255.hp1 HG02647.hp1 HG02896.hp1 HG03516.hp2 NA19066.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0005 a0010	a0001c0001 a0001c0005 a0003c0003 others(3): Show a0001c0001 a0001c0005 a0003c0003 a0004c0004 a0005c0006 a0010c0014	a0001c0001t0005 a0001c0005t0002 a0003c0003t0001 others(3): Show a0001c0001t0005 a0001c0005t0002 a0003c0003t0001 a0004c0004t0001 a0005c0006t0003 a0010c0014t0001	a0001c0001t0005g0087 a0001c0005t0002g0031 a0003c0003t0001g0082 others(3): Show a0001c0001t0005g0087 a0001c0005t0002g0031 a0003c0003t0001g0082 a0004c0004t0001g0054 a0005c0006t0003g0022 a0010c0014t0001g0104	6	140	0.0429	13	c.540 others(32): Show c.540+16561_540+16573dupAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	45013434	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	140	0.0071	13	c.400 others(34): Show c.4001-25048_4001-25047insCTTTCTTTCTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799726	G G	GGGTGGGG others(6): Show GGGTGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0068 a0001c0001t0011g0068	1	262	0.0038	13	c.-45 others(24): Show c.-4522_-4521insGGTGGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4282		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GAGGGGGT others(6): Show GAGGGGGTGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18982.hp2 NA19085.hp2 NA18982.hp2 NA19085.hp2	a0001 a0001	a0001c0009 a0001c0031 a0001c0009 a0001c0031	a0001c0009t0002 a0001c0031t0001 a0001c0009t0002 a0001c0031t0001	a0001c0009t0002g0144 a0001c0031t0001g0145 a0001c0009t0002g0144 a0001c0031t0001g0145	2	262	0.0076	13	c.-45 others(24): Show c.-4521_-4520insAGGGGGTGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGTGGGG others(6): Show GGGTGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01975.hp2 HG02723.hp1 others(2): Show HG00423.hp2 HG01975.hp2 HG02723.hp1 HG03139.hp1 NA19007.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0014c0043 a0001c0001 a0014c0043	a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0014c0043t0002	a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0003g0051 others(2): Show a0001c0001t0002g0009 a0001c0001t0002g0052 a0001c0001t0003g0051 a0001c0001t0010g0078 a0014c0043t0002g0109	5	262	0.0191	13	c.-45 others(24): Show c.-4521_-4520insGGTGGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799729	G G	GGGGTGGG others(6): Show GGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01168.hp1 HG01167.hp2 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0128 a0001c0001t0002g0073 a0001c0001t0002g0128	2	262	0.0076	13	c.-45 others(24): Show c.-4519_-4518insGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4279		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799731	T T	TGGGGGGG others(6): Show TGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0107 a0001c0001t0002g0107	1	262	0.0038	13	c.-45 others(24): Show c.-4517_-4516insGGGGGGGGGGGGG	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4277		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799731	T T	TGGGGGGG others(6): Show TGGGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01081.hp1 others(22): Show HG00323.hp1 HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01167.hp1 HG01255.hp2 HG01256.hp1 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02129.hp2 HG02698.hp1 HG02897.hp1 HG03017.hp1 HG03041.hp2 HG03831.hp2 NA18951.hp1 NA18959.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA19007.hp1 NA19085.hp1 NA20905.hp2	a0001 a0003 a0009 others(1): Show a0001 a0003 a0009 a0024	a0001c0001 a0001c0002 a0003c0045 others(2): Show a0001c0001 a0001c0002 a0003c0045 a0009c0020 a0024c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0012 a0003c0045t0001 a0009c0020t0002 a0024c0055t0001	a0001c0001t0001g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 others(20): Show a0001c0001t0001g0005 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0072 a0001c0001t0002g0091 a0001c0001t0002g0108 a0001c0001t0002g0115 a0001c0001t0020g0101 a0001c0002t0001g0001 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0038 a0001c0002t0001g0066 a0001c0002t0001g0100 a0001c0002t0001g0118 a0001c0002t0001g0133 a0001c0002t0001g0176 a0001c0002t0003g0046 a0001c0002t0007g0001 a0001c0002t0012g0001 a0003c0045t0001g0069 a0009c0020t0002g0079 a0024c0055t0001g0116	25	262	0.0954	13	c.-45 others(24): Show c.-4517_-4516insGGGGGGGGTGGGG	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4277		chr12	TogoVar
SETD2_chr3_47011436_47169113	47036905	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(118): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00558.hp1 HG00621.hp1 HG00642.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03453.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18906.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp1 NA18970.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18984.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0011 a0014 a0015 a0017 a0018 a0019	a0001c0005 a0002c0001 a0002c0016 others(13): Show a0001c0005 a0002c0001 a0002c0016 a0003c0003 a0003c0014 a0004c0004 a0006c0008 a0008c0019 a0009c0011 a0010c0021 a0011c0024 a0014c0013 a0015c0028 a0017c0027 a0018c0029 a0019c0022	a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 others(17): Show a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0016t0001 a0003c0003t0001 a0003c0014t0001 a0004c0004t0001 a0006c0008t0001 a0008c0019t0001 a0009c0011t0001 a0010c0021t0001 a0011c0024t0001 a0014c0013t0001 a0015c0028t0001 a0017c0027t0001 a0018c0029t0001 a0019c0022t0001	a0001c0005t0001g0115 a0001c0005t0001g0123 a0001c0005t0001g0149 others(118): Show a0001c0005t0001g0115 a0001c0005t0001g0123 a0001c0005t0001g0149 a0001c0005t0004g0264 a0001c0005t0005g0072 a0001c0005t0005g0074 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0155 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0166 a0002c0001t0001g0168 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0181 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0196 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0201 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0228 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0243 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0261 a0002c0001t0002g0001 a0002c0001t0002g0002 a0002c0001t0005g0073 a0002c0016t0001g0185 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0289 a0003c0003t0001g0292 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0308 a0003c0014t0001g0307 a0004c0004t0001g0117 a0004c0004t0001g0127 a0004c0004t0001g0134 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0257 a0004c0004t0001g0259 a0004c0004t0001g0260 a0006c0008t0001g0206 a0006c0008t0001g0207 a0008c0019t0001g0151 a0009c0011t0001g0224 a0010c0021t0001g0256 a0011c0024t0001g0164 a0014c0013t0001g0139 a0015c0028t0001g0211 a0017c0027t0001g0143 a0018c0029t0001g0223 a0019c0022t0001g0234	121	308	0.3929	13	c.735 others(30): Show c.7350+760_7350+761insTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47036905	T T	TTAAAAAA others(6): Show TTAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0273 a0001c0005t0001g0273	1	308	0.0033	13	c.735 others(30): Show c.7350+760_7350+761insTTTTTTTTTTTTA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47036915	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0235 a0002c0001t0001g0235	1	308	0.0033	13	c.735 others(30): Show c.7350+750_7350+751insCTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47050723	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA20905.hp2 HG03041.hp2 NA20905.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0209 a0002c0001t0001g0261 a0002c0001t0001g0209 a0002c0001t0001g0261	2	308	0.0065	13	c.696 others(32): Show c.6964-4115_6964-4103dupAAAAAAAAAAAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47056094	T T	TTTTTATT others(6): Show TTTTTATTTATTTA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0214 a0002c0001t0001g0214	1	308	0.0033	13	c.696 others(30): Show c.6963+726_6963+727insTAAATAAATAAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47058440	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02922.hp1 others(4): Show HG01891.hp2 HG02055.hp1 HG02922.hp1 HG02965.hp1 HG03579.hp2 NA20129.hp2 NA21309.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0007 a0004c0004 a0005c0007	a0004c0004t0001 a0004c0004t0004 a0005c0007t0001 a0004c0004t0001 a0004c0004t0004 a0005c0007t0001	a0004c0004t0001g0118 a0004c0004t0001g0127 a0004c0004t0001g0131 others(4): Show a0004c0004t0001g0118 a0004c0004t0001g0127 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0004g0124 a0004c0004t0004g0128 a0005c0007t0001g0122	7	308	0.0227	13	c.629 others(30): Show c.6294-963_6294-951dupTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	14/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	290	0.0035	13	c.676 others(30): Show c.676-9667_676-9655dupTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0058 a0001c0007t0058	a0001c0007t0058g0006 a0001c0007t0058g0006	1	240	0.0042	13	c.-17 others(32): Show c.-177+8632_-177+8644dupAAAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9425062	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp2 HG02145.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0153 a0001c0001t0020g0154 a0001c0001t0020g0153 a0001c0001t0020g0154	2	240	0.0083	13	c.-11 others(30): Show c.-117+548_-117+549insGTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD6_chr16_58510517_58528842	58513168	A A	ATATGTTG others(6): Show ATATGTTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0013 a0001c0002t0018g0013	1	426	0.0024	13	c.-23 others(24): Show c.-2370_-2369insTATGTTGTGTGTG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding		2348		chr16	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01516.hp2 HG01517.hp2 others(16): Show HG01109.hp2 HG01516.hp2 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG02135.hp2 HG02630.hp2 HG03041.hp2 HG03098.hp1 HG03579.hp2 HG04115.hp1 NA18522.hp1 NA18943.hp2 NA18955.hp2 NA18972.hp1 NA18977.hp1 NA19009.hp2 NA19062.hp2 NA19076.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0008 a0001c0001 a0002c0002 a0002c0008	a0001c0001t0001 a0002c0002t0002 a0002c0008t0001 a0001c0001t0001 a0002c0002t0002 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0002t0002g0004 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0002t0002g0004 a0002c0002t0002g0011 a0002c0002t0002g0023 a0002c0002t0002g0056 a0002c0008t0001g0041	19	426	0.0446	13	c.-15 others(24): Show c.-1577_-1576insTTTTTTTTTTTTT	SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding		1526		chr5	TogoVar
SETDB1_chr1_150921363_150969737	150921524	A A	AAAAGAAA others(6): Show AAAAGAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00558.hp2 others(151): Show HG00140.hp1 HG00323.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18747.hp1 NA18906.hp1 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp2 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18985.hp2 NA18986.hp1 NA18993.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19067.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0015	a0001c0001 a0001c0004 a0001c0016 others(6): Show a0001c0001 a0001c0004 a0001c0016 a0001c0021 a0001c0023 a0001c0024 a0004c0006 a0007c0009 a0015c0019	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0016t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0004c0006t0001 a0007c0009t0001 a0015c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 others(136): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0004g0114 a0001c0001t0004g0121 a0001c0004t0001g0007 a0001c0004t0001g0106 a0001c0016t0001g0024 a0001c0021t0001g0296 a0001c0023t0001g0301 a0001c0024t0001g0018 a0004c0006t0001g0129 a0004c0006t0001g0152 a0007c0009t0001g0007 a0015c0019t0001g0177	154	352	0.4375	13	c.-50 others(24): Show c.-5005_-5004insAAAGAAAAGAAAG	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		4838		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150923910	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03669.hp2 HG04204.hp2 HG01255.hp1 HG03669.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0148 a0001c0001t0001g0195 a0001c0001t0004g0121 a0001c0001t0001g0148 a0001c0001t0001g0195 a0001c0001t0004g0121	3	352	0.0085	13	c.-26 others(24): Show c.-2619_-2618insAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		2452		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150931261	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA18906.hp1 NA18939.hp1 others(1): Show HG02738.hp1 NA18906.hp1 NA18939.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0163 a0001c0001t0001g0164	4	352	0.0114	13	c.412 others(30): Show c.412+1151_412+1163dupAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49471934	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0359 a0001c0002t0004g0359	1	406	0.0025	13	c.305 others(30): Show c.305+3975_305+3976insATATATATATATT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETDB2_chr13_49439274_49500003	49471935	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19086.hp1 HG02886.hp2 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0027 a0001c0001t0001 a0001c0002t0027	a0001c0001t0001g0107 a0001c0002t0027g0333 a0001c0001t0001g0107 a0001c0002t0027g0333	2	406	0.0049	13	c.305 others(30): Show c.305+3975_305+3976insATATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13			chr13	TogoVar
SETX_chr9_132256356_132359986	132358843	C C	CTTATTAA others(6): Show CTTATTAATAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0001 a0008c0008t0001	a0008c0008t0001g0082 a0008c0008t0001g0082	1	362	0.0028	13	c.-40 others(24): Show c.-4042_-4041insTCTTTATTAATAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding		3858		chr9	TogoVar
SET_chr9_128684222_128701396	128689916	T T	TCCTCTCC others(6): Show TCCTCTCCCCCCTC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	396	0.0025	13	c.73+ others(26): Show c.73+266_73+278dupTCCCCCCTCCCTC	SET	ENSG00000119335.18	transcript	ENST00000322030.13	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
SEZ6L2_chr16_29866159_29904550	29874550	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	308	0.0033	13	c.210 others(30): Show c.2105-834_2105-822dupAAAAAAAAAAAAA	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding	12/17			chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26189577	T T	TATTGGTA others(6): Show TATTGGTAAAAACC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG02886.hp2 others(1): Show HG01891.hp2 HG02723.hp2 HG02886.hp2 HG02965.hp2	a0001 a0003 a0001 a0003	a0001c0006 a0003c0004 a0003c0034 a0001c0006 a0003c0004 a0003c0034	a0001c0006t0007 a0003c0004t0002 a0003c0004t0012 others(1): Show a0001c0006t0007 a0003c0004t0002 a0003c0004t0012 a0003c0034t0001	a0001c0006t0007g0015 a0003c0004t0002g0016 a0003c0004t0012g0017 others(1): Show a0001c0006t0007g0015 a0003c0004t0002g0016 a0003c0004t0012g0017 a0003c0034t0001g0018	4	240	0.0167	13	c.94+ others(30): Show c.94+19815_94+19816insTTGGTAAAAACCA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26207910	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0203 a0002c0005t0006g0203	1	240	0.0042	13	c.94+ others(30): Show c.94+38152_94+38164dupTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26316885	A A	AAAGAGAA others(6): Show AAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0090 a0002c0002t0001g0090	1	240	0.0042	13	c.201 others(32): Show c.2015+2987_2015+2988insGAAAGAAAGAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26342707	A A	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0191 a0002c0005t0001g0191	1	240	0.0042	13	c.221 others(32): Show c.2212+2077_2212+2078insGAAAAGAAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348565	G G	GGAAGGAA others(6): Show GGAAGGAAGGGAGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0235 a0002c0005t0001g0235	1	240	0.0042	13	c.240 others(30): Show c.2407+655_2407+656insGGAAGGGAGAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348586	G G	GAAAGAGA others(6): Show GAAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0228 a0002c0002t0004g0228	1	240	0.0042	13	c.240 others(30): Show c.2407+674_2407+675insAAGAGAAGAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26385234	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0189 a0002c0002t0002g0189	1	240	0.0042	13	c.49 others(24): Show c.4939_*4940insTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding		1639		chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26386854	T T	TGCCTTAG others(6): Show TGCCTTAGCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18982.hp2 NA18973.hp1 NA18982.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0205 a0002c0005t0005g0206 a0002c0005t0005g0205 a0002c0005t0005g0206	2	240	0.0083	13	c.65 others(24): Show c.6559_*6560insGCCTTAGCCTCCC	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding		3259		chr22	TogoVar
SF3A1_chr22_30326988_30361894	30350304	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02083.hp2 NA18959.hp2 HG02015.hp1 HG02083.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0045 a0001c0002t0004g0162 a0001c0002t0004g0045 a0001c0002t0004g0162	3	402	0.0075	13	c.185 others(30): Show c.185+2646_185+2647insTTTTTTTTTTTTT	SF3A1	ENSG00000099995.19	transcript	ENST00000215793.13	protein_coding	2/15			chr22	TogoVar
SF3A3_chr1_37951975_37995022	37961759	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA19011.hp1 NA18984.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0311 a0001c0001t0004g0142 a0001c0001t0004g0311	2	400	0.0050	13	c.137 others(32): Show c.1373-1597_1373-1585dupTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02280.hp2 HG03486.hp2 others(2): Show HG00438.hp2 HG02280.hp2 HG03486.hp2 HG03516.hp2 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0041 a0001c0001t0001 a0001c0001t0016 a0001c0001t0041	a0001c0001t0001g0124 a0001c0001t0001g0362 a0001c0001t0016g0371 others(2): Show a0001c0001t0001g0124 a0001c0001t0001g0362 a0001c0001t0016g0371 a0001c0001t0016g0372 a0001c0001t0041g0363	5	400	0.0125	13	c.468 others(28): Show c.468+570_468+582dupTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02055.hp2 HG02083.hp2 others(6): Show HG00438.hp2 HG02055.hp2 HG02083.hp2 HG02897.hp1 HG03492.hp2 HG04228.hp1 NA18951.hp2 NA18963.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0011 a0001c0002t0002 a0001c0001t0001 a0001c0001t0011 a0001c0002t0002	a0001c0001t0001g0095 a0001c0001t0001g0164 a0001c0001t0001g0229 others(6): Show a0001c0001t0001g0095 a0001c0001t0001g0164 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0293 a0001c0001t0011g0020 a0001c0002t0002g0082 a0001c0002t0002g0083 a0001c0002t0002g0128	9	344	0.0262	13	c.495 others(28): Show c.495+262_495+274dupTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01891.hp2 HG01934.hp1 others(10): Show HG01358.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02280.hp2 HG02451.hp1 HG02886.hp2 HG02922.hp2 HG03195.hp2 HG04184.hp2 NA18906.hp2 NA18939.hp1 NA18980.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0003 a0001c0002t0010 a0001c0003t0008 a0001c0002t0003 a0001c0002t0010 a0001c0003t0008	a0001c0002t0003g0025 a0001c0002t0003g0200 a0001c0002t0003g0252 others(7): Show a0001c0002t0003g0025 a0001c0002t0003g0200 a0001c0002t0003g0252 a0001c0002t0003g0276 a0001c0002t0010g0284 a0001c0003t0008g0006 a0001c0003t0008g0035 a0001c0003t0008g0052 a0001c0003t0008g0053 a0001c0003t0008g0167	13	342	0.0380	13	c.571 others(28): Show c.571-112_571-111insAAAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31549288	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0057 a0014c0015t0001g0057	1	322	0.0031	13	c.450 others(28): Show c.450-951_450-939dupAAAAAAAAAAAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582208	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0056 a0014c0015t0001g0056	1	322	0.0031	13	c.124 others(32): Show c.1249-1666_1249-1654dupTATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19085.hp1 NA19030.hp2 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0025 a0002c0001t0001g0220 a0001c0002t0001g0025 a0002c0001t0001g0220	2	322	0.0062	13	c.124 others(32): Show c.1249-1638_1249-1637insATATATATATATT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18970.hp1 NA19062.hp2 NA18954.hp1 NA18970.hp1 NA19062.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0001 a0002c0001t0001 a0001c0002t0001 a0002c0001t0001	a0001c0002t0001g0099 a0002c0001t0001g0232 a0002c0001t0001g0268 a0001c0002t0001g0099 a0002c0001t0001g0232 a0002c0001t0001g0268	3	322	0.0093	13	c.124 others(32): Show c.1249-1638_1249-1637insATATATATATTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02132.hp1 NA19084.hp2 HG00735.hp1 HG02132.hp1 NA19084.hp2	a0002 a0003 a0037 a0002 a0003 a0037	a0002c0001 a0003c0003 a0037c0038 a0002c0001 a0003c0003 a0037c0038	a0002c0001t0001 a0003c0003t0001 a0037c0038t0001 a0002c0001t0001 a0003c0003t0001 a0037c0038t0001	a0002c0001t0001g0238 a0003c0003t0001g0170 a0037c0038t0001g0287 a0002c0001t0001g0238 a0003c0003t0001g0170 a0037c0038t0001g0287	3	322	0.0093	13	c.124 others(32): Show c.1249-1638_1249-1637insATATATATTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(6): Show ATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0041 a0002c0041	a0002c0041t0001 a0002c0041t0001	a0002c0041t0001g0267 a0002c0041t0001g0267	1	322	0.0031	13	c.124 others(32): Show c.1249-1638_1249-1637insATATATTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0309 a0001c0006t0001g0309	1	322	0.0031	13	c.124 others(32): Show c.1249-1638_1249-1637insATATTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATTTTT others(6): Show ATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0254 a0002c0001t0001g0254	1	322	0.0031	13	c.124 others(32): Show c.1249-1638_1249-1637insATTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582237	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02015.hp2 HG01168.hp2 HG02015.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0003 a0001c0002 a0003c0003	a0001c0002t0001 a0003c0003t0001 a0001c0002t0001 a0003c0003t0001	a0001c0002t0001g0078 a0003c0003t0001g0226 a0001c0002t0001g0078 a0003c0003t0001g0226	2	322	0.0062	13	c.124 others(32): Show c.1249-1638_1249-1637insATATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar

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