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
SERPINB6_chr6_2943159_2976567	2972206	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA18954.hp1 NA18968.hp1 others(2): Show HG00423.hp1 NA18954.hp1 NA18968.hp1 NA18983.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0002t0001g0013 a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0002t0001g0013	5	36	0.1389	-17	c.-70 others(26): Show c.-701_-685delTTTTTTTTTTTTTTTTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		640		chr6	TogoVar
SERPINB7_chr18_63770418_63810370	63783185	AAAGAGAG others(10): Show AAAGAGAGAGAGAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	420	0.0024	-17	c.168 others(32): Show c.168+647_168+663delAGAGAGAGAGAGAGAGA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB7_chr18_63770418_63810370	63783230	GAGAGAAA others(10): Show GAGAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	417	0.0024	-17	c.168 others(32): Show c.168+692_168+708delGAGAAAGAAAGAAAGAA	SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINE1_chr7_101122104_101144247	101143688	GAAGAAAG others(10): Show GAAGAAAGAAGGGAAAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(207): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01943.hp2 HG01981.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18986.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp2 NA18993.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19001.hp1 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19030.hp1 NA19055.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0003c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(18): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0031 a0001c0001t0036 a0001c0001t0038 a0001c0004t0009 a0002c0003t0001 a0002c0003t0007 a0003c0002t0003	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(179): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0262 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0006g0057 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0136 a0001c0001t0007g0137 a0001c0001t0008g0028 a0001c0001t0008g0100 a0001c0001t0008g0140 a0001c0001t0010g0038 a0001c0001t0010g0143 a0001c0001t0010g0149 a0001c0001t0011g0054 a0001c0001t0011g0055 a0001c0001t0011g0056 a0001c0001t0014g0102 a0001c0001t0014g0103 a0001c0001t0015g0049 a0001c0001t0019g0197 a0001c0001t0020g0114 a0001c0001t0021g0031 a0001c0001t0023g0113 a0001c0001t0024g0147 a0001c0001t0025g0081 a0001c0001t0031g0007 a0001c0001t0036g0253 a0001c0001t0038g0033 a0001c0004t0009g0022 a0001c0004t0009g0064 a0001c0004t0009g0065 a0002c0003t0001g0062 a0002c0003t0001g0063 a0002c0003t0007g0299 a0003c0002t0003g0209	210	434	0.4839	-17	c.62 others(28): Show c.6247_*6263delAAGAAAGAAGGGAAAGA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding		4442		chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224028860	AAACACAC others(10): Show AAACACACGCAGAACCAG	A A	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0127 a0001c0003t0001g0127	1	372	0.0027	-17	c.-23 others(36): Show c.-23+10222_-23+10238delCTGGTTCTGCGTGTGTT	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224044121	CTCTTTCT others(10): Show CTCTTTCTTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00741.hp1 HG01074.hp1 others(32): Show HG00408.hp1 HG00741.hp1 HG01074.hp1 HG01167.hp1 HG01169.hp1 HG01884.hp2 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02886.hp1 HG03195.hp1 HG03453.hp2 NA18939.hp1 NA18951.hp1 NA18957.hp1 NA18957.hp2 NA18974.hp1 NA18974.hp2 NA18980.hp1 NA19000.hp1 NA19010.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0010 a0002c0008t0001	a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0034 others(31): Show a0001c0001t0001g0003 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0125 a0001c0001t0001g0137 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0001g0185 a0001c0002t0001g0043 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0079 a0001c0002t0001g0144 a0001c0002t0001g0167 a0001c0003t0001g0032 a0001c0003t0001g0060 a0001c0003t0001g0206 a0001c0003t0005g0028 a0001c0004t0001g0006 a0001c0004t0001g0197 a0001c0005t0001g0005 a0001c0005t0001g0093 a0001c0006t0001g0002 a0001c0006t0001g0026 a0001c0006t0001g0053 a0001c0006t0001g0054 a0001c0006t0001g0126 a0001c0007t0010g0021 a0002c0008t0001g0128 a0002c0008t0001g0130	35	277	0.1264	-17	c.-50 others(28): Show c.-5062_-5046delAAGAAAGAAAAGAAAGA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4836		chr2	TogoVar
SERPINF2_chr17_1737871_1760265	1742131	CTGGTTCA others(10): Show CTGGTTCATACAGCCCCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	444	0.0023	-17	c.-78 others(26): Show c.-781_-765delTGGTTCATACAGCCCCA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		739		chr17	TogoVar
SERPING1_chr11_57592685_57619848	57618168	TGTTTTTG others(10): Show TGTTTTTGTTTTGAGACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-17	c.35 others(28): Show c.3588_*3604delGTTTTTGTTTTGAGACG	SERPING1	ENSG00000149131.17	transcript	ENST00000278407.9	protein_coding		3321		chr11	TogoVar
SERPINI1_chr3_167730721_167830569	167760562	TGTGTGTG others(10): Show TGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0060 a0002c0002t0001g0060	1	230	0.0043	-17	c.-19 others(36): Show c.-19+24740_-19+24756delGTGTGTGTGTGTGTGTG	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8			chr3	TogoVar
SERTAD1_chr19_40416589_40430992	40418211	TTTTCTTT others(10): Show TTTTCTTTTCTTTCTTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00323.hp2 others(79): Show HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp1 HG01884.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02129.hp2 HG02273.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03453.hp1 HG03490.hp1 HG03540.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18965.hp1 NA18987.hp2 NA18992.hp2 NA18999.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp2 NA19030.hp1 NA19054.hp1 NA19064.hp2 NA19077.hp2 NA19079.hp1 NA19082.hp1 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0008 a0005c0005 a0001c0002 a0003c0008 a0005c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0025 a0003c0008t0001 a0005c0005t0002	a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0016 others(6): Show a0001c0002t0001g0003 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0019 a0001c0002t0002g0002 a0001c0002t0008g0038 a0001c0002t0025g0044 a0003c0008t0001g0045 a0005c0005t0002g0040	82	366	0.2240	-17	c.46 others(28): Show c.4608_*4624delGGAAGAAAGAAAAGAAA	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		3377		chr19	TogoVar
SERTAD4_chr1_210227796_210251255	210247625	TTTGCAGG others(10): Show TTTGCAGGAAGAGAGAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	418	0.0024	-17	c.52 others(28): Show c.5289_*5305delTTGCAGGAAGAGAGAAA	SERTAD4	ENSG00000082497.12	transcript	ENST00000367012.4	protein_coding		1371		chr1	TogoVar
SESTD1_chr2_179096678_179269832	179230113	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00639.hp2 others(32): Show HG00099.hp1 HG00408.hp1 HG00639.hp2 HG01168.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp1 HG02055.hp2 HG02109.hp1 HG02129.hp1 HG02258.hp1 HG02451.hp1 HG02698.hp1 HG02818.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03098.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG03831.hp2 HG04204.hp2 NA18947.hp2 NA18950.hp1 NA18962.hp1 NA19063.hp1 NA19066.hp2 NA20300.hp2 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0004c0012	a0001c0001t0004 a0001c0001t0042 a0001c0002t0009 others(8): Show a0001c0001t0004 a0001c0001t0042 a0001c0002t0009 a0001c0002t0010 a0001c0002t0024 a0001c0002t0032 a0001c0002t0039 a0001c0002t0041 a0001c0002t0045 a0001c0009t0004 a0004c0012t0009	a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 others(31): Show a0001c0001t0004g0001 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0054 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0042g0052 a0001c0002t0009g0062 a0001c0002t0009g0063 a0001c0002t0009g0065 a0001c0002t0009g0067 a0001c0002t0009g0069 a0001c0002t0009g0070 a0001c0002t0010g0105 a0001c0002t0010g0106 a0001c0002t0010g0107 a0001c0002t0010g0110 a0001c0002t0010g0111 a0001c0002t0010g0112 a0001c0002t0024g0147 a0001c0002t0032g0066 a0001c0002t0039g0109 a0001c0002t0041g0108 a0001c0002t0045g0145 a0001c0009t0004g0047 a0004c0012t0009g0068	35	56	0.6250	-17	c.-26 others(36): Show c.-26+34369_-26+34385delAAAAAAAAAAAAAAAAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44703348	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03654.hp2 HG02615.hp1 HG03654.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0018 a0003c0003 a0012c0018	a0003c0003t0008 a0012c0018t0004 a0003c0003t0008 a0012c0018t0004	a0003c0003t0008g0051 a0012c0018t0004g0050 a0003c0003t0008g0051 a0012c0018t0004g0050	2	39	0.0513	-17	c.486 others(34): Show c.486+1546_486+1562delTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44806623	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19043.hp2 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0024 a0002c0002t0001 a0001c0001t0024 a0002c0002t0001	a0001c0001t0024g0108 a0002c0002t0001g0123 a0001c0001t0024g0108 a0002c0002t0001g0123	2	29	0.0690	-17	c.487 others(36): Show c.487-62582_487-62566delTTTTTTTTTTTTTTTTT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989891	AAAAAAAA others(10): Show AAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA18989.hp1 HG01258.hp1 NA18989.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0002 a0004c0004t0001 a0003c0003t0002 a0004c0004t0001	a0003c0003t0002g0014 a0004c0004t0001g0119 a0003c0003t0002g0014 a0004c0004t0001g0119	2	138	0.0145	-17	c.400 others(38): Show c.4000+36552_4000+36568delAAAAAAAAAAAAAAAAT	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5			chr18	TogoVar
SETBP1_chr18_44675888_45073510	45020258	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03516.hp1 HG02647.hp1 HG03516.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0001c0001t0001 a0010c0014t0001	a0001c0001t0001g0130 a0010c0014t0001g0104 a0001c0001t0001g0130 a0010c0014t0001g0104	2	35	0.0571	-17	c.400 others(38): Show c.4001-18206_4001-18190delAAAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD2_chr3_47011436_47169113	47011622	GGCTGGGA others(10): Show GGCTGGGAGGTACCCCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp2 NA19000.hp2 NA19070.hp2 others(2): Show NA18951.hp2 NA19000.hp2 NA19070.hp2 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 others(2): Show a0001c0002t0003g0086 a0001c0002t0003g0087 a0001c0002t0003g0088 a0001c0002t0003g0089 a0001c0002t0003g0090	5	306	0.0163	-17	c.54 others(28): Show c.5454_*5470delTTGGGGTACCTCCCAGC	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding		4813		chr3	TogoVar
SETD2_chr3_47011436_47169113	47013696	GTATTTTA others(10): Show GTATTTTACCTTGCTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG02886.hp1 HG06807.hp2 others(2): Show HG00741.hp1 HG02886.hp1 HG06807.hp2 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0002 a0001c0005t0004 a0001c0002t0002 a0001c0005t0004	a0001c0002t0002g0035 a0001c0005t0004g0263 a0001c0005t0004g0264 others(2): Show a0001c0002t0002g0035 a0001c0005t0004g0263 a0001c0005t0004g0264 a0001c0005t0004g0266 a0001c0005t0004g0267	5	306	0.0163	-17	c.33 others(28): Show c.3380_*3396delATCAGCAAGGTAAAATA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding		2739		chr3	TogoVar
SETD2_chr3_47011436_47169113	47037059	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20752.hp2 HG00738.hp2 NA20752.hp2	a0001 a0019 a0001 a0019	a0001c0002 a0019c0023 a0001c0002 a0019c0023	a0001c0002t0003 a0019c0023t0003 a0001c0002t0003 a0019c0023t0003	a0001c0002t0003g0099 a0019c0023t0003g0098 a0001c0002t0003g0099 a0019c0023t0003g0098	2	42	0.0476	-17	c.735 others(34): Show c.7350+590_7350+606delAAAAAAAAAAAAAAAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0165 a0002c0001t0001g0165	1	21	0.0476	-17	c.709 others(36): Show c.7099-1661_7099-1645delTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47106493	TAAAAAAA others(10): Show TAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG01515.hp1 others(23): Show HG01255.hp1 HG01358.hp2 HG01515.hp1 HG01928.hp2 HG01952.hp2 HG02004.hp1 HG02074.hp1 HG02080.hp2 HG03942.hp1 NA18945.hp1 NA18952.hp2 NA18965.hp1 NA18970.hp1 NA18980.hp1 NA18981.hp2 NA19005.hp1 NA19043.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19087.hp2	a0003 a0003	a0003c0003 a0003c0014 a0003c0003 a0003c0014	a0003c0003t0001 a0003c0014t0001 a0003c0003t0001 a0003c0014t0001	a0003c0003t0001g0269 a0003c0003t0001g0274 a0003c0003t0001g0275 others(23): Show a0003c0003t0001g0269 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0284 a0003c0003t0001g0285 a0003c0003t0001g0286 a0003c0003t0001g0287 a0003c0003t0001g0288 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0295 a0003c0003t0001g0296 a0003c0003t0001g0297 a0003c0003t0001g0298 a0003c0003t0001g0308 a0003c0014t0001g0307	26	64	0.4063	-17	c.471 others(34): Show c.4716-390_4716-374delTTTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	5/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99420947	CGGGGGGG others(10): Show CGGGGGGGGGGGGGGGGG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	44	0.0227	-17	c.676 others(34): Show c.676-7030_676-7014delCCCCCCCCCCCCCCCCC	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD6_chr16_58510517_58528842	58522237	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 NA19072.hp1 NA19085.hp2 HG02257.hp1 NA19072.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0057 a0001c0003t0030 a0001c0001t0057 a0001c0003t0030	a0001c0001t0057g0006 a0001c0003t0030g0001 a0001c0003t0030g0005 a0001c0001t0057g0006 a0001c0003t0030g0001 a0001c0003t0030g0005	3	23	0.1304	-17	c.32 others(28): Show c.3222_*3238delAAAAAAAAAAAAAAAAA	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	8/8	3222	INFO_REALIGN_3_PRIME	chr16	TogoVar
SETDB1_chr1_150921363_150969737	150923910	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02280.hp1 HG02630.hp1 others(7): Show HG02055.hp2 HG02280.hp1 HG02630.hp1 HG02647.hp2 HG02886.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0048 others(5): Show a0001c0001t0001g0006 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0003g0047 a0001c0001t0003g0059	10	20	0.5000	-17	c.-26 others(28): Show c.-2618_-2602delAAAAAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		2452		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150925009	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02615.hp1 HG03453.hp2 HG02145.hp2 HG02615.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0158 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0158	3	113	0.0265	-17	c.-15 others(28): Show c.-1519_-1503delAAAAAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		1353		chr1	TogoVar
SETDB2_chr13_49439274_49500003	49483609	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG03453.hp2 others(1): Show HG02818.hp1 HG02922.hp2 HG03453.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0016 a0001c0002t0012g0280 a0001c0002t0012g0281 a0001c0002t0012g0016 a0001c0002t0012g0280 a0001c0002t0012g0281	4	18	0.2222	-17	c.148 others(32): Show c.1482+67_1482+83delTTTTTTTTTTTTTTTTT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETDB2_chr13_49439274_49500003	49483974	AAATGTTT others(10): Show AAATGTTTGTGTTACTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00639.hp1 others(69): Show HG00408.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG03130.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18946.hp2 NA18953.hp2 NA18967.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA18987.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp2 NA19055.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp1 NA19077.hp1 NA19080.hp1 NA19084.hp1 NA19088.hp1 NA19090.hp1 NA20129.hp1 NA20905.hp2	a0001 a0005 a0006 a0001 a0005 a0006	a0001c0002 a0001c0014 a0005c0006 others(1): Show a0001c0002 a0001c0014 a0005c0006 a0006c0007	a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 others(8): Show a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0011 a0001c0002t0012 a0001c0002t0014 a0001c0002t0019 a0001c0002t0036 a0001c0014t0003 a0005c0006t0003 a0006c0007t0011	a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0225 others(60): Show a0001c0002t0003g0001 a0001c0002t0003g0012 a0001c0002t0003g0225 a0001c0002t0003g0226 a0001c0002t0003g0229 a0001c0002t0003g0230 a0001c0002t0003g0232 a0001c0002t0003g0233 a0001c0002t0003g0235 a0001c0002t0003g0237 a0001c0002t0003g0238 a0001c0002t0003g0239 a0001c0002t0003g0240 a0001c0002t0003g0241 a0001c0002t0003g0246 a0001c0002t0003g0247 a0001c0002t0003g0248 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0252 a0001c0002t0003g0253 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0258 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0277 a0001c0002t0003g0278 a0001c0002t0003g0279 a0001c0002t0003g0286 a0001c0002t0004g0015 a0001c0002t0004g0265 a0001c0002t0004g0266 a0001c0002t0008g0243 a0001c0002t0008g0269 a0001c0002t0008g0270 a0001c0002t0008g0273 a0001c0002t0008g0274 a0001c0002t0008g0276 a0001c0002t0011g0268 a0001c0002t0011g0271 a0001c0002t0011g0272 a0001c0002t0012g0016 a0001c0002t0012g0280 a0001c0002t0012g0281 a0001c0002t0012g0282 a0001c0002t0014g0242 a0001c0002t0014g0249 a0001c0002t0014g0262 a0001c0002t0014g0263 a0001c0002t0019g0227 a0001c0002t0019g0267 a0001c0002t0019g0275 a0001c0002t0036g0234 a0001c0014t0003g0264 a0005c0006t0003g0013 a0005c0006t0003g0014 a0005c0006t0003g0236 a0006c0007t0011g0244 a0006c0007t0011g0245	72	404	0.1782	-17	c.148 others(34): Show c.1482+413_1482+429delATGTTTGTGTTACTTTA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETX_chr9_132256356_132359986	132278437	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00673.hp2 others(30): Show HG00423.hp2 HG00597.hp1 HG00673.hp2 HG01928.hp2 HG01978.hp2 HG01993.hp2 HG02293.hp1 HG02698.hp1 HG02738.hp2 HG03492.hp2 HG04115.hp2 NA18944.hp1 NA18954.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18999.hp2 NA19007.hp2 NA19009.hp2 NA19056.hp1 NA19058.hp2 NA19065.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1	a0002 a0005 a0018 others(1): Show a0002 a0005 a0018 a0037	a0002c0002 a0005c0004 a0018c0029 others(1): Show a0002c0002 a0005c0004 a0018c0029 a0037c0060	a0002c0002t0003 a0005c0004t0002 a0018c0029t0002 others(1): Show a0002c0002t0003 a0005c0004t0002 a0018c0029t0002 a0037c0060t0002	a0002c0002t0003g0043 a0005c0004t0002g0052 a0005c0004t0002g0055 others(30): Show a0002c0002t0003g0043 a0005c0004t0002g0052 a0005c0004t0002g0055 a0005c0004t0002g0084 a0005c0004t0002g0087 a0005c0004t0002g0089 a0005c0004t0002g0090 a0005c0004t0002g0091 a0005c0004t0002g0092 a0005c0004t0002g0094 a0005c0004t0002g0095 a0005c0004t0002g0098 a0005c0004t0002g0099 a0005c0004t0002g0100 a0005c0004t0002g0102 a0005c0004t0002g0103 a0005c0004t0002g0104 a0005c0004t0002g0105 a0005c0004t0002g0106 a0005c0004t0002g0107 a0005c0004t0002g0108 a0005c0004t0002g0123 a0005c0004t0002g0124 a0005c0004t0002g0125 a0005c0004t0002g0126 a0005c0004t0002g0129 a0005c0004t0002g0130 a0005c0004t0002g0131 a0005c0004t0002g0132 a0005c0004t0002g0148 a0018c0029t0002g0074 a0018c0029t0002g0175 a0037c0060t0002g0144	33	46	0.7174	-17	c.665 others(34): Show c.6655-197_6655-181delAAAAAAAAAAAAAAAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	20/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132332627	TTTTGAAG others(10): Show TTTTGAAGACAAGGCTGG	T T	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	360	0.0028	-17	c.839 others(34): Show c.839-1196_839-1180delCCAGCCTTGTCTTCAAA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	7/25			chr9	TogoVar
SF3B1_chr2_197384784_197440028	197418234	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp2 HG02723.hp2 others(1): Show HG02486.hp2 HG02615.hp2 HG02723.hp2 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0004 a0001c0003t0021 a0001c0003t0001 a0001c0003t0004 a0001c0003t0021	a0001c0003t0001g0301 a0001c0003t0004g0302 a0001c0003t0004g0304 others(1): Show a0001c0003t0001g0301 a0001c0003t0004g0302 a0001c0003t0004g0304 a0001c0003t0021g0303	4	15	0.2667	-17	c.495 others(32): Show c.495+258_495+274delTTTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SFI1_chr22_31491536_31623588	31593976	GGAGACGG others(10): Show GGAGACGGAGACGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp1 HG02258.hp2 others(1): Show HG01516.hp2 HG01517.hp1 HG02258.hp2 NA21309.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0004 a0010c0010t0001g0005 a0010c0010t0001g0006 others(1): Show a0010c0010t0001g0004 a0010c0010t0001g0005 a0010c0010t0001g0006 a0010c0010t0001g0007	4	320	0.0125	-17	c.154 others(36): Show c.1544+4403_1544+4419delACGGAGACGAGGGAGAG	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFMBT1_chr3_52898572_53051073	52933500	TTACATAT others(10): Show TTACATATCCAGATATGC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	326	0.0031	-17	c.454 others(34): Show c.454-1209_454-1193delGCATATCTGGATATGTA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	5/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	52940835	GAAGTTAA others(10): Show GAAGTTAATTTTACCTGT	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG00738.hp1 others(28): Show HG00597.hp2 HG00733.hp1 HG00738.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01192.hp2 HG01255.hp1 HG01891.hp2 HG02015.hp1 HG02055.hp1 HG02132.hp2 HG02257.hp1 HG02257.hp2 HG02723.hp1 HG02809.hp1 HG03139.hp1 HG03195.hp2 HG03486.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04204.hp1 NA18747.hp1 NA18940.hp2 NA18979.hp2 NA19083.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0004g0153 a0001c0001t0004g0290 a0001c0001t0004g0291 others(28): Show a0001c0001t0004g0153 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0299 a0001c0001t0004g0300 a0001c0001t0004g0301 a0001c0001t0004g0302 a0001c0001t0004g0306 a0001c0001t0004g0307 a0001c0001t0004g0309 a0001c0001t0004g0314 a0001c0001t0004g0315 a0001c0001t0004g0316 a0001c0001t0004g0317 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0004g0323 a0001c0001t0004g0324 a0001c0001t0004g0325 a0001c0001t0004g0326 a0001c0001t0004g0327 a0001c0001t0005g0171 a0001c0001t0008g0303	31	326	0.0951	-17	c.364 others(34): Show c.364+2501_364+2517delACAGGTAAAATTAACTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	4/20			chr3	TogoVar
SFMBT1_chr3_52898572_53051073	53040968	ATTTTTTT others(10): Show ATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA20752.hp1 HG03834.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0030 a0001c0001t0001g0029 a0001c0001t0002g0030	2	52	0.0385	-17	c.-13 others(36): Show c.-131+4831_-131+4847delAAAAAAAAAAAAAAAAA	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	1/20			chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7239875	AGTCTGGG others(10): Show AGTCTGGGGTTTTTAACC	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG02886.hp1 others(1): Show HG02723.hp2 HG02818.hp2 HG02886.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0003t0027 a0001c0001t0002 a0001c0003t0006 a0001c0003t0027	a0001c0001t0002g0007 a0001c0003t0006g0018 a0001c0003t0006g0035 others(1): Show a0001c0001t0002g0007 a0001c0003t0006g0018 a0001c0003t0006g0035 a0001c0003t0027g0034	4	142	0.0282	-17	c.112 others(36): Show c.1120+3666_1120+3682delGGTTAAAAACCCCAGAC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	9/20			chr10	TogoVar
SFMBT2_chr10_7153624_7416034	7393017	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01891.hp1 HG02109.hp1 others(2): Show HG01517.hp2 HG01891.hp1 HG02109.hp1 HG03453.hp2 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0007 a0001c0001t0031	a0001c0001t0001g0023 a0001c0001t0004g0069 a0001c0001t0004g0076 others(2): Show a0001c0001t0001g0023 a0001c0001t0004g0069 a0001c0001t0004g0076 a0001c0001t0007g0068 a0001c0001t0031g0032	5	142	0.0352	-17	c.-51 others(36): Show c.-51-11085_-51-11069delATATATATATATATATA	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	1/20			chr10	TogoVar
SFRP1_chr8_41256962_41314473	41282564	ATAAATAA others(10): Show ATAAATAAAATAAAATTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02895.hp2 HG02897.hp1 others(1): Show HG01884.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0020 a0001c0001t0017 a0001c0001t0020	a0001c0001t0017g0012 a0001c0001t0017g0013 a0001c0001t0020g0017 others(1): Show a0001c0001t0017g0012 a0001c0001t0017g0013 a0001c0001t0020g0017 a0001c0001t0020g0247	4	379	0.0106	-17	c.623 others(36): Show c.623-17092_623-17076delAAATTTTATTTTATTTA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFRP1_chr8_41256962_41314473	41290886	CTTTTTTT others(10): Show CTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0259 a0002c0002t0004g0259	1	124	0.0081	-17	c.622 others(36): Show c.622+12558_622+12574delAAAAAAAAAAAAAAAAA	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2			chr8	TogoVar
SFRP1_chr8_41256962_41314473	41309330	TCGGCCTG others(10): Show TCGGCCTGCGGTCGGAGG	T T	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0011 a0001c0001t0028g0011	1	382	0.0026	-17	c.-18 others(26): Show c.-188_-172delCCTCCGACCGCAGGCCG	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	1/3	172		chr8	TogoVar
SFRP1_chr8_41256962_41314473	41309342	CGGAGGCG others(10): Show CGGAGGCGGCGCGGGCGG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0256	1	382	0.0026	-17	c.-20 others(26): Show c.-200_-184delCCGCCCGCGCCGCCTCC	SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	1/3	184		chr8	TogoVar
SFTA2_chr6_30926353_30937170	30928031	GTTTTTTT others(10): Show GTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00438.hp2 others(92): Show HG00140.hp1 HG00280.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp1 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02129.hp2 HG02148.hp2 HG02155.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp2 HG02559.hp2 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02818.hp1 HG02897.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp2 HG06807.hp1 NA18944.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp1 NA18961.hp2 NA18966.hp1 NA18967.hp2 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp2 NA18990.hp1 NA18991.hp2 NA18994.hp2 NA18997.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19063.hp2 NA19068.hp1 NA19075.hp1 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19086.hp2 NA19088.hp1 NA19090.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	95	145	0.6552	-17	c.34 others(28): Show c.3440_*3456delAAAAAAAAAAAAAAAAA	SFTA2	ENSG00000196260.5	transcript	ENST00000359086.4	protein_coding		3321		chr6	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(10): Show AAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	348	0.0029	-17	c.872 others(34): Show c.872+1700_872+1716delAAAAATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524122	AAAAATAT others(10): Show AAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG03492.hp1 NA19060.hp1 HG02004.hp2 HG03492.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0117 a0001c0001t0001g0252 a0001c0001t0003g0091 a0001c0001t0001g0117 a0001c0001t0001g0252 a0001c0001t0003g0091	3	334	0.0090	-17	c.872 others(34): Show c.872+1702_872+1718delAAATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524124	AAATATAT others(10): Show AAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA18967.hp1 NA19030.hp2 others(2): Show HG03579.hp1 NA18967.hp1 NA19030.hp2 NA19055.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 others(2): Show a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0019 a0002c0005t0023	a0001c0001t0004g0004 a0001c0001t0008g0053 a0001c0001t0009g0180 others(2): Show a0001c0001t0004g0004 a0001c0001t0008g0053 a0001c0001t0009g0180 a0001c0001t0019g0066 a0002c0005t0023g0182	5	309	0.0162	-17	c.872 others(34): Show c.872+1704_872+1720delATATATATATATATATA	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524126	ATATATAT others(10): Show ATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0023 a0002c0005t0023	a0002c0005t0023g0184 a0002c0005t0023g0184	1	361	0.0028	-17	c.872 others(34): Show c.872+1705_872+1721delTATATATATATATATAT	SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10			chr5	TogoVar
SFXN5_chr2_72937036_73076712	73047238	AAAAAAAA others(10): Show AAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0091 a0001c0001t0008g0091	1	239	0.0042	-17	c.172 others(34): Show c.172-6324_172-6308delATATATATATTTTTTTT	SFXN5	ENSG00000144040.13	transcript	ENST00000272433.7	protein_coding	2/13			chr2	TogoVar
SGCB_chr4_52015706_52043299	52034331	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(100): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp2 HG02129.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02723.hp1 HG02735.hp2 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 NA18946.hp2 NA18950.hp2 NA18951.hp1 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18980.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18998.hp2 NA19005.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19056.hp2 NA19059.hp1 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp2 NA19075.hp1 NA19077.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019	a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 others(35): Show a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0015 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0184 a0001c0001t0002g0192 a0001c0001t0004g0007 a0001c0001t0004g0047 a0001c0001t0004g0079 a0001c0001t0007g0026 a0001c0001t0007g0062 a0001c0001t0017g0070 a0001c0001t0018g0065 a0001c0001t0019g0064	103	106	0.9717	-17	c.34- others(30): Show c.34-708_34-692delTTTTTTTTTTTTTTTTT	SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	1/5			chr4	TogoVar
SGCD_chr5_156322164_156772788	156444096	CTCTCTCT others(10): Show CTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0093 a0001c0002t0002g0093	1	148	0.0068	-17	c.193 others(36): Show c.193-64504_193-64488delTCTCTCTCTCTCTCTCT	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8			chr5	TogoVar
SGCD_chr5_156322164_156772788	156769290	TCGGAATA others(10): Show TCGGAATAGGGATCAGAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0018 a0001c0001t0003g0018	1	148	0.0068	-17	c.99 others(28): Show c.9901_*9917delCGGAATAGGGATCAGAG	SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding		1503		chr5	TogoVar
SGCE_chr7_94579980_94661133	94601443	CAAAAAAA others(10): Show CAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	54	0.0185	-17	c.826 others(32): Show c.826-603_826-587delTTTTTTTTTTTTTTTTT	SGCE	ENSG00000127990.19	transcript	ENST00000648936.2	protein_coding	6/10			chr7	TogoVar

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