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
SETD2_chr3_47011436_47169113	47050723	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA18975.hp2 NA18977.hp1 others(1): Show HG04228.hp2 NA18975.hp2 NA18977.hp1 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0150 a0002c0001t0001g0167 a0002c0001t0001g0210 others(1): Show a0002c0001t0001g0150 a0002c0001t0001g0167 a0002c0001t0001g0210 a0002c0001t0001g0232	4	308	0.0130	11	c.696 others(30): Show c.6964-4113_6964-4103dupAAAAAAAAAAA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47106493	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0137 a0004c0010t0001g0137	1	308	0.0033	11	c.471 others(28): Show c.4716-384_4716-374dupTTTTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	5/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99401971	A A	AGCACAGG others(4): Show AGCACAGGAGCT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02451.hp2 others(9): Show HG02055.hp1 HG02258.hp2 HG02451.hp2 HG02630.hp2 HG02809.hp1 HG03130.hp1 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0010 a0002c0009 a0001c0002 a0001c0010 a0002c0009	a0001c0002t0002 a0001c0002t0005 a0001c0010t0002 others(1): Show a0001c0002t0002 a0001c0002t0005 a0001c0010t0002 a0002c0009t0002	a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 others(9): Show a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0146 a0001c0002t0002g0280 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0005g0142 a0001c0010t0002g0144 a0002c0009t0002g0143	12	290	0.0414	11	c.117 others(30): Show c.1178-1713_1178-1712insAGCTCCTGTGC	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	11/12			chr14	TogoVar
SETD5_chr3_9392615_9483154	9406607	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03516.hp1 NA21309.hp1 HG02970.hp2 HG03516.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0017 a0001c0001t0007 a0001c0001t0017	a0001c0001t0007g0205 a0001c0001t0017g0155 a0001c0001t0017g0156 a0001c0001t0007g0205 a0001c0001t0017g0155 a0001c0001t0017g0156	3	240	0.0125	11	c.-17 others(30): Show c.-177+8634_-177+8644dupAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9413649	G G	GGGTGTGT others(4): Show GGGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0004 a0002c0002t0007g0004	2	240	0.0083	11	c.-17 others(32): Show c.-176-10817_-176-10816insGTGTGTGTGTG	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA19084.hp2 HG00544.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0113 a0001c0001t0005g0041 a0001c0001t0001g0113 a0001c0001t0005g0041	2	240	0.0083	11	c.-11 others(30): Show c.-117+1686_-117+1687insTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	2/22			chr3	TogoVar
SETD5_chr3_9392615_9483154	9452659	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0058 a0001c0007t0058	a0001c0007t0058g0006 a0001c0007t0058g0006	1	240	0.0042	11	c.234 others(30): Show c.2347-1065_2347-1055dupTTTTTTTTTTT	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD5_chr3_9392615_9483154	9454622	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0192 a0002c0002t0019g0192	1	240	0.0042	11	c.247 others(28): Show c.2476+772_2476+782dupAAAAAAAAAAA	SETD5	ENSG00000168137.20	transcript	ENST00000402198.7	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
SETD6_chr16_58510517_58528842	58513168	A A	ATGTGGTG others(4): Show ATGTGGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0075	a0001c0001t0075g0003 a0001c0001t0075g0003	1	426	0.0024	11	c.-23 others(22): Show c.-2370_-2369insTGTGGTGTGTG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding		2348		chr16	TogoVar
SETD6_chr16_58510517_58528842	58516149	C C	CGGGGCGG others(4): Show CGGGGCGGGGCG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	426	0.0024	11	c.335 others(24): Show c.335-50_335-49insGCGGGGCGGGG	SETD6	ENSG00000103037.12	transcript	ENST00000219315.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr16	TogoVar
SETD9_chr5_56904596_56922348	56908069	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00408.hp1 others(113): Show HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00738.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01496.hp1 HG01943.hp1 HG01952.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02735.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp2 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19011.hp1 NA19056.hp2 NA19060.hp2 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19074.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0003c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0034 a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0021 a0002c0002t0004g0009 a0003c0003t0001g0002 a0003c0003t0001g0053	116	426	0.2723	11	c.-15 others(22): Show c.-1577_-1576insTTTTTTTTTTT	SETD9	ENSG00000155542.12	transcript	ENST00000285947.5	protein_coding		1526		chr5	TogoVar
SETDB1_chr1_150921363_150969737	150931261	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG00738.hp1 others(41): Show HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01516.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG02083.hp1 HG02132.hp1 HG02165.hp1 HG02300.hp1 HG02300.hp2 HG02886.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp2 HG03492.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 NA18522.hp1 NA18943.hp2 NA18944.hp1 NA18956.hp2 NA18965.hp1 NA18968.hp1 NA18985.hp2 NA19011.hp2 NA19063.hp1 NA19065.hp2 NA19067.hp1 NA19090.hp1	a0001 a0004 a0007 others(1): Show a0001 a0004 a0007 a0015	a0001c0001 a0001c0004 a0001c0020 others(3): Show a0001c0001 a0001c0004 a0001c0020 a0004c0006 a0007c0009 a0015c0019	a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0001 a0001c0020t0001 a0004c0006t0001 a0007c0009t0001 a0015c0019t0001	a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 others(40): Show a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0194 a0001c0001t0001g0291 a0001c0001t0004g0114 a0001c0001t0004g0121 a0001c0004t0001g0007 a0001c0020t0001g0109 a0004c0006t0001g0129 a0007c0009t0001g0007 a0015c0019t0001g0177	44	352	0.1250	11	c.412 others(28): Show c.412+1153_412+1163dupAAAAAAAAAAA	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB1_chr1_150921363_150969737	150933368	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01978.hp2 HG03831.hp2 others(2): Show HG00738.hp1 HG01978.hp2 HG03831.hp2 NA18986.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0150 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0150 a0001c0001t0001g0291 a0001c0004t0001g0106	5	352	0.0142	11	c.412 others(28): Show c.412+3257_412+3267dupTTTTTTTTTTT	SETDB1	ENSG00000143379.13	transcript	ENST00000692827.1	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
SETDB2_chr13_49439274_49500003	49470966	C C	CTTTCTTT others(4): Show CTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01123.hp2 HG02027.hp2 others(15): Show HG00609.hp1 HG01123.hp2 HG02027.hp2 HG02055.hp1 HG02074.hp2 HG03130.hp1 HG03516.hp2 NA18940.hp2 NA18959.hp1 NA18963.hp1 NA18967.hp2 NA18969.hp2 NA18988.hp2 NA19009.hp1 NA19011.hp1 NA19060.hp2 NA19078.hp2 NA19087.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0001 a0001c0001t0023 a0001c0001t0037 others(1): Show a0001c0001t0001 a0001c0001t0023 a0001c0001t0037 a0008c0011t0039	a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0094 others(15): Show a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0133 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0180 a0001c0001t0023g0119 a0001c0001t0023g0132 a0001c0001t0037g0100 a0008c0011t0039g0048	18	406	0.0443	11	c.305 others(28): Show c.305+3009_305+3010insCTTTCTTTTTT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETDB2_chr13_49439274_49500003	49471934	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0350 a0001c0002t0004g0350	1	406	0.0025	11	c.305 others(28): Show c.305+3975_305+3976insATATATATATT	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr13	TogoVar
SETDB2_chr13_49439274_49500003	49471934	A A	ATATATAT others(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0362 a0001c0002t0004g0362	1	406	0.0025	11	c.305 others(28): Show c.305+3975_305+3976insATATATATTTT	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(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG04204.hp1 NA18940.hp1 others(4): Show HG03704.hp2 HG04204.hp1 NA18940.hp1 NA18942.hp2 NA18948.hp2 NA18965.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0004 a0001c0010t0001 a0001c0001t0001 a0001c0002t0004 a0001c0010t0001	a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121 others(4): Show a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0121 a0001c0002t0004g0351 a0001c0002t0004g0361 a0001c0002t0004g0363 a0001c0010t0001g0106	7	406	0.0172	11	c.305 others(28): Show c.305+3975_305+3976insATATATATATA	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	5/13			chr13	TogoVar
SETDB2_chr13_49439274_49500003	49494517	T T	TTGGTTTA others(4): Show TTGGTTTAAGGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18940.hp2 NA18940.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0039 a0008c0011t0039	a0008c0011t0039g0048 a0008c0011t0039g0048	1	406	0.0025	11	c.26 others(22): Show c.2668_*2669insTGGTTTAAGGG	SETDB2	ENSG00000136169.17	transcript	ENST00000611815.2	protein_coding	14/14	2669		chr13	TogoVar
SETX_chr9_132256356_132359986	132302356	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0015 a0015	a0015c0028 a0015c0028	a0015c0028t0015 a0015c0028t0015	a0015c0028t0015g0357 a0015c0028t0015g0357	1	362	0.0028	11	c.537 others(30): Show c.5375-1564_5375-1554dupTTTTTTTTTTT	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	11/25			chr9	TogoVar
SETX_chr9_132256356_132359986	132333402	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0142 a0006c0007t0005g0142	1	362	0.0028	11	c.838 others(28): Show c.838+1205_838+1206insATATATATATA	SETX	ENSG00000107290.14	transcript	ENST00000224140.6	protein_coding	7/25			chr9	TogoVar
SEZ6L2_chr16_29866159_29904550	29874550	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	308	0.0033	11	c.210 others(28): Show c.2105-832_2105-822dupAAAAAAAAAAA	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding	12/17			chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26207910	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0004 a0001c0008t0002g0004	1	240	0.0042	11	c.94+ others(28): Show c.94+38154_94+38164dupTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26304373	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01358.hp2 HG00735.hp1 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0033 a0002c0002 a0002c0033	a0002c0002t0006 a0002c0033t0003 a0002c0002t0006 a0002c0033t0003	a0002c0002t0006g0071 a0002c0033t0003g0117 a0002c0002t0006g0071 a0002c0033t0003g0117	2	240	0.0083	11	c.134 others(30): Show c.1349-1603_1349-1593dupGAAAGAAAGAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26316903	A A	AAAGAAAG others(4): Show AAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03471.hp1 NA19043.hp2 HG01884.hp2 HG03471.hp1 NA19043.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0005 a0005c0011 a0002c0002 a0002c0005 a0005c0011	a0002c0002t0004 a0002c0005t0007 a0005c0011t0001 a0002c0002t0004 a0002c0005t0007 a0005c0011t0001	a0002c0002t0004g0158 a0002c0005t0007g0147 a0005c0011t0001g0159 a0002c0002t0004g0158 a0002c0005t0007g0147 a0005c0011t0001g0159	3	240	0.0125	11	c.201 others(30): Show c.2015+3002_2015+3003insAGAAAGAAAGA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348568	A A	AGGAAGGA others(4): Show AGGAAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0147 a0002c0005t0007g0147	1	240	0.0042	11	c.240 others(28): Show c.2407+655_2407+656insGGAAGGAAGGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16			chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348586	G G	GAAAGAGA others(4): Show GAAAGAGAAGAA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0118 a0003c0004t0002g0118	1	240	0.0042	11	c.240 others(28): Show c.2407+674_2407+675insAAGAGAAGAAA	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26348807	A A	AGAGAGGG others(4): Show AGAGAGGGAAGG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03654.hp2 HG03041.hp1 HG03654.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0003c0004t0031 a0001c0001t0002 a0003c0004t0031	a0001c0001t0002g0052 a0003c0004t0031g0022 a0001c0001t0002g0052 a0003c0004t0031g0022	2	240	0.0083	11	c.240 others(28): Show c.2407+895_2407+896insAGAGGGAAGGG	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(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0123 a0002c0002t0020g0123	1	240	0.0042	11	c.279 others(30): Show c.2794+3779_2794+3780insTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26385234	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01167.hp2 HG01169.hp1 others(4): Show HG01099.hp1 HG01167.hp2 HG01169.hp1 HG02559.hp2 HG02723.hp2 HG02818.hp1 NA19043.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0006 others(2): Show a0001c0001 a0001c0003 a0001c0006 a0002c0005 a0003c0004	a0001c0001t0007 a0001c0003t0007 a0001c0006t0007 others(2): Show a0001c0001t0007 a0001c0003t0007 a0001c0006t0007 a0002c0005t0007 a0003c0004t0007	a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 others(4): Show a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0003t0007g0186 a0001c0006t0007g0015 a0002c0005t0007g0147 a0003c0004t0007g0192	7	240	0.0292	11	c.49 others(22): Show c.4939_*4940insTTTTTTTTTTT	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding		1639		chr22	TogoVar
SF3A1_chr22_30326988_30361894	30350304	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19007.hp2 NA19030.hp1 NA18951.hp1 NA19007.hp2 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0166 a0001c0002t0004g0159 a0001c0002t0004g0160 a0001c0002t0004g0166	3	402	0.0075	11	c.185 others(28): Show c.185+2646_185+2647insTTTTTTTTTTT	SF3A1	ENSG00000099995.19	transcript	ENST00000215793.13	protein_coding	2/15			chr22	TogoVar
SF3A3_chr1_37951975_37995022	37961759	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02080.hp1 HG02523.hp2 others(7): Show HG00673.hp1 HG02080.hp1 HG02523.hp2 NA18952.hp2 NA18955.hp1 NA18972.hp2 NA18973.hp2 NA19062.hp2 NA19067.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030	a0001c0001t0004g0197 a0001c0001t0004g0307 a0001c0001t0004g0315 others(7): Show a0001c0001t0004g0197 a0001c0001t0004g0307 a0001c0001t0004g0315 a0001c0001t0004g0360 a0001c0001t0007g0201 a0001c0001t0007g0301 a0001c0001t0007g0306 a0001c0001t0007g0313 a0001c0001t0007g0314 a0001c0001t0030g0316	10	400	0.0250	11	c.137 others(30): Show c.1373-1595_1373-1585dupTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37961783	A A	AAAAAAAA others(4): Show AAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0358 a0001c0001t0004g0358	1	400	0.0025	11	c.137 others(30): Show c.1373-1609_1373-1608insATTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	15/16			chr1	TogoVar
SF3A3_chr1_37951975_37995022	37983586	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG01978.hp1 others(10): Show HG00741.hp2 HG01243.hp2 HG01978.hp1 HG02083.hp2 HG02132.hp2 HG02717.hp1 NA18944.hp2 NA18960.hp2 NA18962.hp2 NA18970.hp1 NA19030.hp1 NA19082.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0001t0001 a0001c0001t0008 a0001c0001t0014	a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0137 others(10): Show a0001c0001t0001g0066 a0001c0001t0001g0073 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0189 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0014g0018 a0001c0001t0014g0040	13	400	0.0325	11	c.468 others(26): Show c.468+572_468+582dupTTTTTTTTTTT	SF3A3	ENSG00000183431.12	transcript	ENST00000373019.5	protein_coding	6/16			chr1	TogoVar
SF3B1_chr2_197384784_197440028	197385700	A A	AGAGGCTG others(4): Show AGAGGCTGAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0305 a0001c0002t0003g0305	1	344	0.0029	11	c.66 others(22): Show c.6602_*6603insACCTCAGCCTC	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding		4083		chr2	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00558.hp1 others(41): Show HG00099.hp1 HG00408.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp1 HG01069.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG01934.hp1 HG01978.hp1 HG02132.hp1 HG02451.hp2 HG02523.hp1 HG02622.hp1 HG02738.hp1 HG03239.hp1 HG03486.hp1 HG03688.hp1 NA18939.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18955.hp1 NA18956.hp1 NA18965.hp2 NA18970.hp1 NA18972.hp2 NA18975.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp2 NA18994.hp2 NA19005.hp1 NA19006.hp1 NA19010.hp1 NA19010.hp2 NA19057.hp2 NA19058.hp2 NA19064.hp1 NA19068.hp2 NA19077.hp2 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020 a0001c0002t0002 a0001c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0154 a0001c0001t0001g0155 others(39): Show a0001c0001t0001g0003 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0173 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0246 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0275 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0324 a0001c0001t0004g0205 a0001c0001t0006g0217 a0001c0001t0006g0267 a0001c0001t0010g0162 a0001c0001t0010g0245 a0001c0001t0020g0211 a0001c0002t0002g0177 a0001c0002t0002g0316 a0001c0002t0002g0317 a0001c0002t0002g0318 a0001c0010t0001g0170	44	344	0.1279	11	c.495 others(26): Show c.495+264_495+274dupTTTTTTTTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG00621.hp1 others(102): Show HG00099.hp2 HG00438.hp1 HG00621.hp1 HG00621.hp2 HG00642.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp2 HG01517.hp1 HG01928.hp2 HG02015.hp2 HG02071.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02559.hp1 HG02615.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02895.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18960.hp1 NA18965.hp2 NA18966.hp2 NA18968.hp2 NA18975.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18992.hp1 NA18994.hp1 NA18997.hp1 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19007.hp2 NA19030.hp2 NA19062.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19072.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19089.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0001c0012 a0002c0005	a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 others(27): Show a0001c0001t0014 a0001c0001t0017 a0001c0001t0039 a0001c0001t0040 a0001c0001t0042 a0001c0001t0044 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0002t0027 a0001c0002t0045 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0053 a0001c0002t0054 a0001c0002t0057 a0001c0002t0063 a0001c0008t0043 a0001c0012t0005 a0002c0005t0003	a0001c0001t0014g0157 a0001c0001t0014g0158 a0001c0001t0014g0165 others(96): Show a0001c0001t0014g0157 a0001c0001t0014g0158 a0001c0001t0014g0165 a0001c0001t0014g0166 a0001c0001t0017g0021 a0001c0001t0017g0153 a0001c0001t0017g0155 a0001c0001t0039g0159 a0001c0001t0040g0021 a0001c0001t0042g0156 a0001c0001t0044g0030 a0001c0002t0003g0180 a0001c0002t0003g0182 a0001c0002t0003g0274 a0001c0002t0004g0012 a0001c0002t0004g0176 a0001c0002t0004g0178 a0001c0002t0004g0213 a0001c0002t0004g0214 a0001c0002t0004g0216 a0001c0002t0004g0217 a0001c0002t0004g0218 a0001c0002t0004g0219 a0001c0002t0004g0221 a0001c0002t0004g0222 a0001c0002t0004g0223 a0001c0002t0004g0225 a0001c0002t0004g0227 a0001c0002t0004g0230 a0001c0002t0004g0235 a0001c0002t0004g0236 a0001c0002t0004g0258 a0001c0002t0004g0260 a0001c0002t0004g0263 a0001c0002t0004g0266 a0001c0002t0004g0267 a0001c0002t0004g0268 a0001c0002t0004g0272 a0001c0002t0005g0011 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0026 a0001c0002t0005g0172 a0001c0002t0005g0186 a0001c0002t0005g0187 a0001c0002t0005g0189 a0001c0002t0005g0190 a0001c0002t0005g0191 a0001c0002t0005g0193 a0001c0002t0005g0224 a0001c0002t0005g0251 a0001c0002t0005g0259 a0001c0002t0005g0262 a0001c0002t0005g0273 a0001c0002t0006g0012 a0001c0002t0006g0013 a0001c0002t0006g0027 a0001c0002t0006g0179 a0001c0002t0006g0183 a0001c0002t0006g0192 a0001c0002t0006g0240 a0001c0002t0006g0242 a0001c0002t0006g0243 a0001c0002t0006g0244 a0001c0002t0006g0245 a0001c0002t0006g0270 a0001c0002t0006g0271 a0001c0002t0007g0010 a0001c0002t0007g0012 a0001c0002t0007g0168 a0001c0002t0007g0169 a0001c0002t0007g0201 a0001c0002t0007g0220 a0001c0002t0007g0257 a0001c0002t0015g0194 a0001c0002t0018g0231 a0001c0002t0018g0232 a0001c0002t0018g0234 a0001c0002t0023g0022 a0001c0002t0024g0246 a0001c0002t0024g0247 a0001c0002t0025g0023 a0001c0002t0025g0026 a0001c0002t0026g0013 a0001c0002t0026g0215 a0001c0002t0027g0238 a0001c0002t0027g0239 a0001c0002t0045g0279 a0001c0002t0047g0027 a0001c0002t0049g0233 a0001c0002t0050g0241 a0001c0002t0051g0287 a0001c0002t0053g0185 a0001c0002t0054g0226 a0001c0002t0057g0175 a0001c0002t0063g0013 a0001c0008t0043g0154 a0001c0012t0005g0250 a0002c0005t0003g0237	105	342	0.3070	11	c.571 others(26): Show c.571-112_571-111insAAAAAAAAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFI1_chr22_31491536_31623588	31530171	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0314 a0001c0002t0001g0314	1	322	0.0031	11	c.267 others(26): Show c.267-865_267-855dupAAAAAAAAAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31530489	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0005 a0010c0010t0001g0005	1	322	0.0031	11	c.267 others(26): Show c.267-555_267-545dupAAAAAAAAAAA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31547612	G G	GTTTTTTT others(4): Show GTTTTTTTTGTT	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	322	0.0124	11	c.449 others(26): Show c.449+649_449+659dupTGTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	5/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31564814	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01993.hp1 others(5): Show HG00738.hp2 HG01891.hp1 HG01993.hp1 HG02683.hp2 HG03139.hp2 HG03710.hp2 HG06807.hp1 NA19030.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0045 a0006c0008 a0006c0013 a0006c0045	a0006c0008t0001 a0006c0013t0001 a0006c0045t0001 a0006c0008t0001 a0006c0013t0001 a0006c0045t0001	a0006c0008t0001g0016 a0006c0008t0001g0317 a0006c0008t0001g0318 others(5): Show a0006c0008t0001g0016 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158 a0006c0045t0001g0033	8	322	0.0248	11	c.765 others(28): Show c.765+3429_765+3439dupTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31582202	C C	CTATATAT others(4): Show CTATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18983.hp2 NA18981.hp1 NA18983.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0005c0005 a0002c0001 a0005c0005	a0002c0001t0001 a0005c0005t0001 a0002c0001t0001 a0005c0005t0001	a0002c0001t0001g0307 a0005c0005t0001g0150 a0002c0001t0001g0307 a0005c0005t0001g0150	2	322	0.0062	11	c.124 others(30): Show c.1249-1673_1249-1672insTATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31582234	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	322	0.0031	11	c.124 others(30): Show c.1249-1640_1249-1639insTTTTTTTTTTT	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(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19011.hp1 HG03540.hp2 NA19011.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0160 a0003c0003t0001g0208 a0003c0003t0001g0160 a0003c0003t0001g0208	2	322	0.0062	11	c.124 others(30): Show c.1249-1638_1249-1637insATATATATATT	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(4): Show ATATATATATTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01255.hp1 HG01952.hp1 others(2): Show HG00323.hp2 HG01255.hp1 HG01952.hp1 HG04204.hp2 NA18945.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0001 a0003c0003 a0001c0002 a0002c0001 a0003c0003	a0001c0002t0001 a0002c0001t0001 a0003c0003t0001 a0001c0002t0001 a0002c0001t0001 a0003c0003t0001	a0001c0002t0001g0022 a0002c0001t0001g0245 a0002c0001t0001g0249 others(2): Show a0001c0002t0001g0022 a0002c0001t0001g0245 a0002c0001t0001g0249 a0002c0001t0001g0258 a0003c0003t0001g0176	5	322	0.0155	11	c.124 others(30): Show c.1249-1638_1249-1637insATATATATTTT	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(4): Show ATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18968.hp2 NA19060.hp2 HG03654.hp1 NA18968.hp2 NA19060.hp2	a0001 a0002 a0030 a0001 a0002 a0030	a0001c0002 a0002c0001 a0030c0040 a0001c0002 a0002c0001 a0030c0040	a0001c0002t0001 a0002c0001t0001 a0030c0040t0001 a0001c0002t0001 a0002c0001t0001 a0030c0040t0001	a0001c0002t0001g0083 a0002c0001t0001g0247 a0030c0040t0001g0275 a0001c0002t0001g0083 a0002c0001t0001g0247 a0030c0040t0001g0275	3	322	0.0093	11	c.124 others(30): Show c.1249-1638_1249-1637insATATATTTTTT	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(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02135.hp2 NA21309.hp2 HG02135.hp2 NA21309.hp2	a0002 a0011 a0002 a0011	a0002c0001 a0011c0017 a0002c0001 a0011c0017	a0002c0001t0001 a0011c0017t0001 a0002c0001t0001 a0011c0017t0001	a0002c0001t0001g0253 a0011c0017t0001g0205 a0002c0001t0001g0253 a0011c0017t0001g0205	2	322	0.0062	11	c.124 others(30): Show c.1249-1638_1249-1637insATATATATATA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	12/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31587301	A A	ATTTGTTT others(4): Show ATTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01891.hp1 HG01993.hp1 others(6): Show HG00738.hp2 HG01891.hp1 HG01993.hp1 HG02683.hp2 HG02818.hp2 HG03139.hp2 HG03688.hp1 HG03710.hp2 HG06807.hp1	a0006 a0006	a0006c0008 a0006c0013 a0006c0008 a0006c0013	a0006c0008t0001 a0006c0013t0001 a0006c0008t0001 a0006c0013t0001	a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 others(6): Show a0006c0008t0001g0015 a0006c0008t0001g0016 a0006c0008t0001g0316 a0006c0008t0001g0317 a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0320 a0006c0013t0001g0157 a0006c0013t0001g0158	9	322	0.0280	11	c.141 others(30): Show c.1414-2138_1414-2137insTTTTTTGTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31598716	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02300.hp1 NA18522.hp1 others(2): Show HG02257.hp2 HG02300.hp1 NA18522.hp1 NA18941.hp1 NA19090.hp1	a0002 a0003 a0007 a0002 a0003 a0007	a0002c0001 a0003c0003 a0007c0007 a0002c0001 a0003c0003 a0007c0007	a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 others(1): Show a0002c0001t0001 a0002c0001t0002 a0003c0003t0001 a0007c0007t0001	a0002c0001t0001g0224 a0002c0001t0001g0266 a0002c0001t0002g0259 others(2): Show a0002c0001t0001g0224 a0002c0001t0001g0266 a0002c0001t0002g0259 a0003c0003t0001g0201 a0007c0007t0001g0303	5	322	0.0155	11	c.154 others(30): Show c.1545-3483_1545-3473dupTTTTTTTTTTT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32		INFO_REALIGN_3_PRIME	chr22	TogoVar
SFI1_chr22_31491536_31623588	31612390	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	322	0.0031	11	c.249 others(28): Show c.2490+550_2490+551insTATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar
SFI1_chr22_31491536_31623588	31612392	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18981.hp2 NA18945.hp2 NA18981.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0063 a0001c0002t0001g0065	2	322	0.0062	11	c.249 others(28): Show c.2490+552_2490+553insTATATATATAT	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	24/32			chr22	TogoVar

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