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
SESN3_chr11_95160513_95236202	95231155	G G	GCCGCCAC others(8): Show GCCGCCACCGCTGCCA	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0158 a0001c0001t0063g0158	1	390	0.0026	15	c.-31 others(24): Show c.-310_-296dupTGGCAGCGGTGGCGG	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	1/10	296		chr11	TogoVar
SESTD1_chr2_179096678_179269832	179230113	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18980.hp2 HG03704.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0011 a0001c0001t0001 a0001c0003t0011	a0001c0001t0001g0241 a0001c0003t0011g0151 a0001c0001t0001g0241 a0001c0003t0011g0151	2	23	0.0870	15	c.-26 others(34): Show c.-26+34371_-26+34385dupAAAAAAAAAAAAAAA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar
SETBP1_chr18_44675888_45073510	44679873	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01074.hp1 HG02630.hp2 others(5): Show HG01070.hp1 HG01074.hp1 HG02630.hp2 HG02886.hp2 HG03139.hp1 HG03225.hp2 HG03516.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0137 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0002g0131 a0001c0001t0010g0133 a0002c0002t0001g0123 a0002c0002t0001g0135 a0002c0002t0002g0136	8	37	0.2162	15	c.-13 others(26): Show c.-1321_-1320insAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding		1014		chr18	TogoVar
SETBP1_chr18_44675888_45073510	44703348	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0023 a0006c0007t0023	a0006c0007t0023g0062 a0006c0007t0023g0062	1	38	0.0263	15	c.486 others(32): Show c.486+1548_486+1562dupTTTTTTTTTTTTTTT	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(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18981.hp1 NA19043.hp2 others(1): Show HG03486.hp1 NA18981.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0002c0002 a0011c0011 a0001c0001 a0002c0002 a0011c0011	a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 others(1): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0005 a0011c0011t0004	a0001c0001t0002g0102 a0002c0002t0001g0123 a0002c0002t0005g0107 others(1): Show a0001c0001t0002g0102 a0002c0002t0001g0123 a0002c0002t0005g0107 a0011c0011t0004g0124	4	81	0.0494	15	c.540 others(34): Show c.540+16573_540+16574insAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETBP1_chr18_44675888_45073510	44989868	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0063 a0003c0003t0001g0063	1	113	0.0088	15	c.400 others(36): Show c.4000+36553_4000+36567dupAAAAAAAAAAAAAAA	SETBP1	ENSG00000152217.20	transcript	ENST00000649279.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SETD1B_chr12_121799009_121837656	121799726	G G	GGGGGGTG others(8): Show GGGGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02698.hp2 HG03486.hp2 HG00735.hp2 HG02698.hp2 HG03486.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0006 a0001c0001 a0001c0002 a0002c0006	a0001c0001t0002 a0001c0002t0001 a0002c0006t0001 a0001c0001t0002 a0001c0002t0001 a0002c0006t0001	a0001c0001t0002g0121 a0001c0002t0001g0001 a0002c0006t0001g0104 a0001c0001t0002g0121 a0001c0002t0001g0001 a0002c0006t0001g0104	3	247	0.0121	15	c.-45 others(26): Show c.-4522_-4521insGGGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4282		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGGTG others(8): Show GGGGGGTGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG01346.hp2 HG02071.hp1 others(5): Show HG00280.hp1 HG01346.hp2 HG02071.hp1 HG02683.hp1 HG02895.hp1 NA19003.hp1 NA19056.hp1 NA20805.hp2	a0001 a0014 a0001 a0014	a0001c0001 a0001c0002 a0001c0041 others(1): Show a0001c0001 a0001c0002 a0001c0041 a0014c0052	a0001c0001t0002 a0001c0002t0001 a0001c0041t0002 others(1): Show a0001c0001t0002 a0001c0002t0001 a0001c0041t0002 a0014c0052t0001	a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0002t0001g0001 others(5): Show a0001c0001t0002g0036 a0001c0001t0002g0090 a0001c0002t0001g0001 a0001c0002t0001g0017 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0041t0002g0004 a0014c0052t0001g0001	8	164	0.0488	15	c.-45 others(26): Show c.-4521_-4520insGGGGGTGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799727	G G	GGGGGTGG others(8): Show GGGGGTGGGGGGGGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG01243.hp1 HG01361.hp2 others(5): Show HG00609.hp2 HG01243.hp1 HG01361.hp2 HG02056.hp1 HG02080.hp2 HG02647.hp1 HG02738.hp1 NA19081.hp1	a0001 a0004 a0010 a0001 a0004 a0010	a0001c0001 a0001c0002 a0004c0021 others(1): Show a0001c0001 a0001c0002 a0004c0021 a0010c0042	a0001c0001t0002 a0001c0001t0004 a0001c0002t0007 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0007 a0001c0002t0018 a0004c0021t0002 a0010c0042t0001	a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 others(5): Show a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 a0001c0001t0004g0002 a0001c0002t0007g0099 a0001c0002t0018g0186 a0004c0021t0002g0010 a0010c0042t0001g0001	8	164	0.0488	15	c.-45 others(26): Show c.-4521_-4520insGGGGTGGGGGGGGGT	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4281		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121799731	T T	TGGGGGGG others(8): Show TGGGGGGGGGTGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02572.hp1 NA19003.hp2 HG02027.hp2 HG02572.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0007 a0001c0001t0002g0122 a0001c0002t0001g0187 a0001c0001t0002g0007 a0001c0001t0002g0122 a0001c0002t0001g0187	3	73	0.0411	15	c.-45 others(26): Show c.-4517_-4516insGGGGGGGGGTGGGGG	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		4277		chr12	TogoVar
SETD1B_chr12_121799009_121837656	121835028	T T	TTTCTTTC others(8): Show TTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0003 a0007 a0003 a0007	a0003c0023 a0007c0017 a0003c0023 a0007c0017	a0003c0023t0008 a0007c0017t0005 a0003c0023t0008 a0007c0017t0005	a0003c0023t0008g0149 a0007c0017t0005g0025 a0003c0023t0008g0149 a0007c0017t0005g0025	2	240	0.0083	15	c.47 others(26): Show c.4789_*4790insTTCTTTCTTTCTTTC	SETD1B	ENSG00000139718.12	transcript	ENST00000604567.6	protein_coding		2373		chr12	TogoVar
SETD2_chr3_47011436_47169113	47036905	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02071.hp1 HG02486.hp2 others(6): Show HG00673.hp2 HG02071.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 NA19081.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0012 a0013	a0001c0005 a0002c0001 a0004c0004 others(2): Show a0001c0005 a0002c0001 a0004c0004 a0012c0015 a0013c0012	a0001c0005t0001 a0001c0005t0004 a0002c0001t0001 others(3): Show a0001c0005t0001 a0001c0005t0004 a0002c0001t0001 a0004c0004t0001 a0012c0015t0001 a0013c0012t0004	a0001c0005t0001g0306 a0001c0005t0004g0262 a0001c0005t0004g0303 others(6): Show a0001c0005t0001g0306 a0001c0005t0004g0262 a0001c0005t0004g0303 a0002c0001t0001g0159 a0002c0001t0001g0221 a0002c0001t0001g0234 a0004c0004t0001g0138 a0012c0015t0001g0143 a0013c0012t0004g0268	9	118	0.0763	15	c.735 others(32): Show c.7350+760_7350+761insTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	18/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0133 a0004c0004t0004g0133	1	21	0.0476	15	c.709 others(34): Show c.7099-1659_7099-1645dupTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47058440	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02717.hp2 others(2): Show HG01167.hp1 HG01169.hp1 HG02717.hp2 HG02897.hp1 HG03486.hp2	a0004 a0005 a0004 a0005	a0004c0004 a0005c0007 a0004c0004 a0005c0007	a0004c0004t0001 a0005c0007t0001 a0004c0004t0001 a0005c0007t0001	a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0141 others(2): Show a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0141 a0005c0007t0001g0125 a0005c0007t0001g0126	5	108	0.0463	15	c.629 others(32): Show c.6294-965_6294-951dupTTTTTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	14/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99394321	C C	CCACGTGC others(8): Show CCACGTGCCACCAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00423.hp1 others(127): Show HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00735.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01169.hp2 HG01192.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18948.hp1 NA18952.hp1 NA18953.hp1 NA18956.hp2 NA18957.hp1 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18990.hp2 NA18992.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19063.hp2 NA19074.hp1 NA19077.hp2 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0010 a0002c0006 a0003c0005 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0001c0002t0005 a0001c0003t0001 a0001c0004t0001 a0001c0007t0002 a0001c0008t0001 a0001c0010t0001 a0002c0006t0002 a0003c0005t0010 a0004c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(122): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0282 a0001c0001t0003g0021 a0001c0001t0003g0108 a0001c0001t0006g0084 a0001c0001t0009g0113 a0001c0002t0002g0132 a0001c0002t0002g0134 a0001c0002t0005g0143 a0001c0003t0001g0142 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0007t0002g0145 a0001c0008t0001g0105 a0001c0010t0001g0155 a0002c0006t0002g0144 a0003c0005t0010g0283 a0004c0009t0001g0047	130	288	0.4514	15	c.43 others(26): Show c.4357_*4358insCTCTGGTGGCACGTG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding		3426		chr14	TogoVar
SETD3_chr14_99392748_99485859	99403489	T T	TCTCTCTC others(8): Show TCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0187	1	283	0.0035	15	c.117 others(32): Show c.1177+735_1177+736insGAGAGAGAGAGAGAG	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG00735.hp1 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0135 a0001c0001t0001g0146	2	26	0.0769	15	c.676 others(32): Show c.676-9669_676-9655dupTTTTTTTTTTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0206 a0001c0001t0035g0206	1	152	0.0066	15	c.-17 others(34): Show c.-177+8644_-177+8645insAAAAAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9426212	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18998.hp1 NA18950.hp2 NA18998.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0002 a0004c0004t0019 a0001c0001t0002 a0004c0004t0019	a0001c0001t0002g0069 a0004c0004t0019g0059 a0001c0001t0002g0069 a0004c0004t0019g0059	2	17	0.1176	15	c.-11 others(34): Show c.-117+1686_-117+1687insTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETD5_chr3_9392615_9483154	9445965	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0193 a0001c0003t0009g0193	1	147	0.0068	15	c.152 others(32): Show c.1524+234_1524+248dupTTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9445968	T T	TTTTTTTT others(8): Show TTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0199 a0001c0003t0011g0199	1	238	0.0042	15	c.152 others(32): Show c.1524+242_1524+243insGTTTTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TAGGGCGG others(8): Show TAGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0025 a0001c0001t0038g0025	2	243	0.0082	15	c.334 others(28): Show c.334+27_334+28insAGGGCGGGGCGGGGC	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7			chr16	TogoVar
SETD6_chr16_58510517_58528842	58516124	T T	TGGGGCGG others(8): Show TGGGGCGGGGCGGGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG00738.hp1 others(12): Show HG00099.hp1 HG00597.hp1 HG00738.hp1 HG01123.hp1 HG02257.hp2 HG02738.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG04115.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0011 a0001c0001t0017 a0001c0001t0027 a0001c0001t0037 a0001c0001t0061 a0001c0001t0062	a0001c0001t0001g0021 a0001c0001t0009g0008 a0001c0001t0011g0008 others(6): Show a0001c0001t0001g0021 a0001c0001t0009g0008 a0001c0001t0011g0008 a0001c0001t0017g0008 a0001c0001t0017g0053 a0001c0001t0027g0054 a0001c0001t0037g0008 a0001c0001t0061g0021 a0001c0001t0062g0021	15	256	0.0586	15	c.334 others(28): Show c.334+41_335-50dupGCGGGGCGGGGCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD6_chr16_58510517_58528842	58516148	G G	GCGGGGCG others(8): Show GCGGGGCGGGGCGGTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG04204.hp1 NA18961.hp2 HG02683.hp2 HG04204.hp1 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0022 a0001c0001t0008 a0001c0003t0022	a0001c0001t0008g0022 a0001c0003t0022g0022 a0001c0001t0008g0022 a0001c0003t0022g0022	3	293	0.0102	15	c.335 others(28): Show c.335-50_335-49insGCGGGGCGGTTCGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD7_chr4_139501038_139561219	139544290	C C	CTAAAATA others(8): Show CTAAAATAAAATAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp1 HG02809.hp2 others(4): Show HG01884.hp2 HG02486.hp1 HG02809.hp2 HG03041.hp2 HG03195.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 others(3): Show a0001c0001t0015 a0001c0001t0020 a0001c0001t0026 a0001c0001t0028 a0001c0001t0052 a0001c0005t0054	a0001c0001t0015g0211 a0001c0001t0015g0241 a0001c0001t0020g0021 others(4): Show a0001c0001t0015g0211 a0001c0001t0015g0241 a0001c0001t0020g0021 a0001c0001t0026g0035 a0001c0001t0028g0214 a0001c0001t0052g0043 a0001c0005t0054g0282	7	150	0.0467	15	c.170 others(32): Show c.170+2615_170+2629dupTTTTATTTTATTTTA	SETD7	ENSG00000145391.14	transcript	ENST00000274031.8	protein_coding	2/7			chr4	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0039	1	86	0.0116	15	c.-15 others(26): Show c.-1577_-1576insTTTTTTTTTTTTTTT	SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding		1526		chr5	TogoVar
SETDB1_chr1_150921363_150969737	150921524	A A	AAAAAAGA others(8): Show AAAAAAGAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG03017.hp1 HG03654.hp2 others(2): Show HG01981.hp1 HG03017.hp1 HG03654.hp2 HG04184.hp1 HG04204.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0012 a0003c0003 a0008c0012	a0003c0003t0001 a0008c0012t0001 a0003c0003t0001 a0008c0012t0001	a0003c0003t0001g0017 a0003c0003t0001g0278 a0003c0003t0001g0284 others(1): Show a0003c0003t0001g0017 a0003c0003t0001g0278 a0003c0003t0001g0284 a0008c0012t0001g0285	5	69	0.0725	15	c.-50 others(26): Show c.-5005_-5004insAAAAAGAAAAGAAAG	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		4838		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150923910	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG03579.hp1 HG02886.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0191 a0001c0001t0001g0093 a0001c0001t0001g0191	2	12	0.1667	15	c.-26 others(26): Show c.-2619_-2618insAAAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding		2452		chr1	TogoVar
SETDB1_chr1_150921363_150969737	150931261	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	121	0.0083	15	c.412 others(32): Show c.412+1149_412+1163dupAAAAAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEZ6L_chr22_26164462_26388596	26318056	C C	CATTTTAT others(8): Show CATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG06807.hp2 HG02257.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0004 a0001c0001t0001 a0001c0006t0004	a0001c0001t0001g0128 a0001c0006t0004g0187 a0001c0001t0001g0128 a0001c0006t0004g0187	2	68	0.0294	15	c.201 others(34): Show c.2015+4175_2015+4189dupATTTTATTTTATTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26347199	A A	AATGATGA others(8): Show AATGATGATGATGATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp2 HG03041.hp1 others(1): Show HG00621.hp2 HG01891.hp2 HG03041.hp1 NA19000.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0004 others(1): Show a0001c0001 a0001c0003 a0003c0004 a0003c0034	a0001c0001t0002 a0001c0003t0002 a0003c0004t0031 others(1): Show a0001c0001t0002 a0001c0003t0002 a0003c0004t0031 a0003c0034t0001	a0001c0001t0002g0130 a0001c0003t0002g0064 a0003c0004t0031g0023 others(1): Show a0001c0001t0002g0130 a0001c0003t0002g0064 a0003c0004t0031g0023 a0003c0034t0001g0019	4	159	0.0252	15	c.221 others(32): Show c.2213-505_2213-491dupGATGATGATGATGAT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAAAGA others(8): Show AAGAAAGAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0013 a0002c0005t0013	a0002c0005t0013g0203 a0002c0005t0013g0203	1	70	0.0143	15	c.240 others(32): Show c.2407+734_2407+735insGAAAGAAAGAAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348646	A A	AAGAGAAG others(8): Show AAGAGAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0227 a0002c0005t0001g0227	1	70	0.0143	15	c.240 others(32): Show c.2407+734_2407+735insGAGAAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348699	A A	AAGGAAGA others(8): Show AAGGAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	194	0.0052	15	c.240 others(32): Show c.2407+787_2407+788insGGAAGAAAGGAAGGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26369341	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG04199.hp2 HG00642.hp2 HG04199.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0002 a0004c0013t0002 a0001c0001t0002 a0004c0013t0002	a0001c0001t0002g0127 a0004c0013t0002g0006 a0001c0001t0002g0127 a0004c0013t0002g0006	2	86	0.0233	15	c.279 others(34): Show c.2794+3779_2794+3780insTTTTTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3A3_chr1_37951975_37995022	37961759	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0311 a0001c0001t0007g0311	1	17	0.0588	15	c.137 others(34): Show c.1373-1599_1373-1585dupTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02630.hp1 HG02886.hp1 others(5): Show HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02976.hp1 HG03041.hp2 HG03486.hp1 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0002g0166 others(5): Show a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0002g0166 a0001c0001t0008g0364 a0001c0001t0013g0045 a0001c0002t0002g0234 a0001c0002t0002g0238 a0001c0002t0002g0298	8	9	0.8889	15	c.468 others(30): Show c.468+568_468+582dupTTTTTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01175.hp1 HG02922.hp1 others(1): Show HG00438.hp1 HG01175.hp1 HG02922.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0007t0002 a0001c0001t0001 a0001c0002t0002 a0001c0007t0002	a0001c0001t0001g0045 a0001c0002t0002g0126 a0001c0007t0002g0009 a0001c0001t0001g0045 a0001c0002t0002g0126 a0001c0007t0002g0009	4	15	0.2667	15	c.495 others(30): Show c.495+260_495+274dupTTTTTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01243.hp1 HG02280.hp1 others(15): Show HG00738.hp2 HG01243.hp1 HG02280.hp1 HG02486.hp1 HG02572.hp1 HG02615.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03471.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0001t0020 a0001c0001t0033 others(3): Show a0001c0001t0002 a0001c0001t0020 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0009t0002	a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0039 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0020g0044 a0001c0001t0020g0054 a0001c0001t0033g0047 a0001c0001t0035g0045 a0001c0001t0036g0049 a0001c0009t0002g0041	18	115	0.1565	15	c.571 others(30): Show c.571-112_571-111insAAAAAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31513561	C C	CGTTTTGT others(8): Show CGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(94): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00609.hp1 HG00673.hp1 HG00735.hp1 HG01071.hp1 HG01168.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG02970.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03704.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18943.hp1 NA18946.hp1 NA18957.hp2 NA18962.hp2 NA18972.hp2 NA18979.hp2 NA18983.hp2 NA18984.hp1 NA18992.hp2 NA18993.hp1 NA19000.hp1 NA19009.hp1 NA19011.hp1 NA19043.hp1 NA19056.hp1 NA19066.hp2 NA19070.hp1 NA19079.hp1 NA19091.hp1 NA19240.hp2 NA20752.hp1 NA21309.hp2	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0005 a0006 a0007 a0008 a0011 a0013 a0016 a0020 a0021 a0023 a0024 a0025 a0028 a0029 a0030	a0001c0001 a0002c0002 a0002c0006 others(20): Show a0001c0001 a0002c0002 a0002c0006 a0003c0003 a0003c0027 a0003c0029 a0003c0033 a0005c0005 a0006c0008 a0006c0013 a0007c0007 a0008c0009 a0011c0017 a0013c0012 a0016c0018 a0020c0034 a0021c0030 a0023c0032 a0024c0045 a0025c0031 a0028c0041 a0029c0042 a0030c0028	a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 others(20): Show a0001c0001t0001 a0002c0002t0001 a0002c0006t0001 a0003c0003t0001 a0003c0027t0001 a0003c0029t0001 a0003c0033t0001 a0005c0005t0001 a0006c0008t0001 a0006c0013t0001 a0007c0007t0001 a0008c0009t0001 a0011c0017t0001 a0013c0012t0001 a0016c0018t0001 a0020c0034t0001 a0021c0030t0001 a0023c0032t0001 a0024c0045t0001 a0025c0031t0001 a0028c0041t0001 a0029c0042t0001 a0030c0028t0001	a0001c0001t0001g0130 a0001c0001t0001g0183 a0002c0002t0001g0121 others(94): Show a0001c0001t0001g0130 a0001c0001t0001g0183 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0138 a0002c0002t0001g0167 a0002c0002t0001g0312 a0002c0002t0001g0314 a0002c0002t0001g0315 a0002c0006t0001g0024 a0002c0006t0001g0149 a0002c0006t0001g0311 a0002c0006t0001g0313 a0003c0003t0001g0019 a0003c0003t0001g0020 a0003c0003t0001g0021 a0003c0003t0001g0022 a0003c0003t0001g0023 a0003c0003t0001g0151 a0003c0003t0001g0154 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0163 a0003c0003t0001g0165 a0003c0003t0001g0166 a0003c0003t0001g0168 a0003c0003t0001g0169 a0003c0003t0001g0171 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0001g0174 a0003c0003t0001g0176 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0180 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0188 a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 a0003c0003t0001g0193 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0202 a0003c0003t0001g0203 a0003c0003t0001g0204 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0027t0001g0152 a0003c0029t0001g0144 a0003c0033t0001g0187 a0005c0005t0001g0127 a0005c0005t0001g0129 a0005c0005t0001g0131 a0005c0005t0001g0133 a0005c0005t0001g0137 a0005c0005t0001g0140 a0005c0005t0001g0141 a0005c0005t0001g0142 a0005c0005t0001g0143 a0005c0005t0001g0147 a0005c0005t0001g0150 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158 a0007c0007t0001g0296 a0008c0009t0001g0128 a0008c0009t0001g0132 a0008c0009t0001g0134 a0008c0009t0001g0135 a0008c0009t0001g0136 a0011c0017t0001g0160 a0013c0012t0001g0164 a0013c0012t0001g0175 a0013c0012t0001g0186 a0016c0018t0001g0198 a0016c0018t0001g0201 a0020c0034t0001g0177 a0021c0030t0001g0126 a0023c0032t0001g0153 a0024c0045t0001g0205 a0025c0031t0001g0192 a0028c0041t0001g0139 a0029c0042t0001g0146 a0030c0028t0001g0145	97	139	0.6978	15	c.92+ others(30): Show c.92+5201_92+5215dupGTTTTGTTTTGTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31545574	A A	AATTTAAT others(8): Show AATTTAATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03130.hp2 HG01496.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0066 a0002c0002t0003g0067	2	171	0.0117	15	c.339 others(32): Show c.339-1278_339-1277insTATTTTATTTAATTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31545574	A A	AATTTTAT others(8): Show AATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0065 a0002c0002t0001g0065	1	170	0.0059	15	c.339 others(32): Show c.339-1283_339-1282insTATTTTATTTTATTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31545584	A A	AATTTAAT others(8): Show AATTTAATTTAATTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA20752.hp2 HG00140.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0215 a0001c0001t0001g0216	2	130	0.0154	15	c.339 others(32): Show c.339-1273_339-1272insAATTTAATTTTATTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31545584	A A	AATTTTAT others(8): Show AATTTTATTTAATTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02647.hp2 others(2): Show HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG04204.hp2	a0002 a0011 a0026 a0002 a0011 a0026	a0002c0002 a0002c0044 a0011c0021 others(1): Show a0002c0002 a0002c0044 a0011c0021 a0026c0026	a0002c0002t0001 a0002c0044t0003 a0011c0021t0001 others(1): Show a0002c0002t0001 a0002c0044t0003 a0011c0021t0001 a0026c0026t0001	a0002c0002t0001g0027 a0002c0044t0003g0037 a0011c0021t0001g0035 others(2): Show a0002c0002t0001g0027 a0002c0044t0003g0037 a0011c0021t0001g0035 a0011c0021t0001g0036 a0026c0026t0001g0028	5	133	0.0376	15	c.339 others(32): Show c.339-1268_339-1267insAATTTTATTTTATTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582202	C C	CTATATAT others(8): Show CTATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	290	0.0034	15	c.124 others(34): Show c.1249-1673_1249-1672insTATATATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31582236	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0171 a0003c0003t0001g0171	1	77	0.0130	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATATATATATT	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(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02135.hp1 others(5): Show HG01169.hp1 HG01169.hp2 HG02135.hp1 HG02300.hp2 NA18979.hp1 NA18979.hp2 NA18992.hp1 NA19057.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0020 a0005c0005 a0001c0001 a0001c0020 a0005c0005	a0001c0001t0001 a0001c0020t0001 a0005c0005t0001 a0001c0001t0001 a0001c0020t0001 a0005c0005t0001	a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0248 others(5): Show a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0020t0001g0250 a0005c0005t0001g0131	8	84	0.0952	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATATATATTTT	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(8): Show ATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18941.hp1 NA19000.hp2 HG01074.hp2 NA18941.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0266 a0001c0001t0001g0281 a0001c0001t0001g0210 a0001c0001t0001g0266 a0001c0001t0001g0281	3	79	0.0380	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATATATTTTTT	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(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	77	0.0130	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATATTTTTTTT	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(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02015.hp1 HG01978.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0283 a0001c0001t0001g0222 a0001c0001t0001g0283	2	78	0.0256	15	c.124 others(34): Show c.1249-1638_1249-1637insATATATTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32		INFO_REALIGN_3_PRIME	chr22	TogoVar

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