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
RXFP4_chr1_155936638_155948087	155946579	G G	GGTTTTTT others(23): Show GGTTTTTTTTCTCTGTTATATTTTGTTATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	310	0.0032	30	c.37 others(41): Show c.3745_*3746insGTTTTTTTTCTCTGTTATATTTTGTTATTT	RXFP4	ENSG00000173080.6	transcript	ENST00000368318.5	protein_coding		3493		chr1	TogoVar
RYK_chr3_134152133_134255859	134249917	G G	GTTTTTTT others(23): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	108	0.0093	30	c.232 others(45): Show c.232+505_232+506insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RYK	ENSG00000163785.14	transcript	ENST00000623711.4	protein_coding	1/14			chr3	TogoVar
RYR1_chr19_38428691_38592564	38502751	T T	TGGGGCAG others(23): Show TGGGGCAGGGGCAGGGGCAGGGGCAGGGGCA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG03139.hp2 HG03710.hp1 HG00733.hp1 HG03139.hp2 HG03710.hp1	a0001 a0020 a0023 a0001 a0020 a0023	a0001c0001 a0020c0106 a0023c0040 a0001c0001 a0020c0106 a0023c0040	a0001c0001t0001 a0020c0106t0001 a0023c0040t0001 a0001c0001t0001 a0020c0106t0001 a0023c0040t0001	a0001c0001t0001g0010 a0020c0106t0001g0043 a0023c0040t0001g0056 a0001c0001t0001g0010 a0020c0106t0001g0043 a0023c0040t0001g0056	3	142	0.0211	30	c.783 others(45): Show c.7835+53_7836-71dupCAGGGGCAGGGGCAGGGGCAGGGGCAGGGG	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	48/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
RYR2_chr1_237037184_237838988	237117671	C C	CCTTCTCT others(23): Show CCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0030 a0001c0016t0030	a0001c0016t0030g0024 a0001c0016t0030g0024	1	9	0.1111	30	c.48+ others(47): Show c.48+75160_48+75189dupTCTCTTCTCTTCTCTTCTCTTCTCTTCT CT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237237945	C C	CCCTTTCC others(23): Show CCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03195.hp2 HG00741.hp1 HG03195.hp2	a0001 a0003 a0001 a0003	a0001c0018 a0003c0043 a0001c0018 a0003c0043	a0001c0018t0029 a0003c0043t0002 a0001c0018t0029 a0003c0043t0002	a0001c0018t0029g0041 a0003c0043t0002g0068 a0001c0018t0029g0041 a0003c0043t0002g0068	2	10	0.2000	30	c.49- others(47): Show c.49-32539_49-32510dupTTTCCTTTCCTTTCCTTTCCTTTCCTTT CC	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	1/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237284505	A A	AAATATAT others(23): Show AAATATATAAATATAATATGTAAATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG00738.hp1 others(27): Show HG00280.hp2 HG00408.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01168.hp1 HG01169.hp1 HG01243.hp1 HG01261.hp2 HG01496.hp2 HG01928.hp1 HG02055.hp2 HG02257.hp2 HG02486.hp1 HG02523.hp2 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03579.hp2 HG03704.hp2 HG04228.hp2 NA18962.hp1 NA18962.hp2 NA19066.hp1 NA19066.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0003 others(19): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0007 a0001c0010 a0001c0011 a0001c0014 a0001c0016 a0001c0017 a0001c0023 a0001c0030 a0001c0036 a0001c0041 a0001c0044 a0002c0009 a0002c0012 a0002c0039 a0003c0006 a0003c0021 a0003c0043 a0007c0033	a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 others(26): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0002t0003 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0005t0031 a0001c0007t0001 a0001c0010t0026 a0001c0011t0004 a0001c0014t0032 a0001c0016t0030 a0001c0017t0034 a0001c0023t0003 a0001c0030t0005 a0001c0036t0003 a0001c0041t0006 a0001c0044t0002 a0002c0009t0004 a0002c0009t0008 a0002c0012t0002 a0002c0039t0033 a0003c0006t0004 a0003c0021t0001 a0003c0043t0002 a0007c0033t0008	a0001c0001t0003g0088 a0001c0001t0007g0082 a0001c0001t0015g0069 others(27): Show a0001c0001t0003g0088 a0001c0001t0007g0082 a0001c0001t0015g0069 a0001c0002t0003g0052 a0001c0002t0023g0059 a0001c0003t0001g0063 a0001c0003t0002g0065 a0001c0003t0002g0090 a0001c0003t0003g0084 a0001c0003t0004g0060 a0001c0005t0031g0028 a0001c0007t0001g0020 a0001c0010t0026g0051 a0001c0011t0004g0064 a0001c0014t0032g0031 a0001c0016t0030g0024 a0001c0017t0034g0032 a0001c0023t0003g0071 a0001c0030t0005g0053 a0001c0036t0003g0038 a0001c0041t0006g0027 a0001c0044t0002g0014 a0002c0009t0004g0067 a0002c0009t0008g0040 a0002c0012t0002g0072 a0002c0039t0033g0030 a0003c0006t0004g0087 a0003c0021t0001g0019 a0003c0043t0002g0068 a0007c0033t0008g0049	30	65	0.4615	30	c.168 others(49): Show c.168+13897_168+13898insAATATAATATGTAAATATATATAATA TATA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	2/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237465608	A A	AGCCTACT others(23): Show AGCCTACTGCACGGCTATGCTATACGGGATG	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0010 a0001c0049t0010	a0001c0049t0010g0044 a0001c0049t0010g0044	1	100	0.0100	30	c.161 others(49): Show c.1613-3473_1613-3444dupCGGCTATGCTATACGGGATGGCCTAC TGCA	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	16/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473423	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0004 a0002c0009t0004	a0002c0009t0004g0067 a0002c0009t0004g0067	1	100	0.0100	30	c.170 others(49): Show c.1708+4237_1708+4238insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237473431	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0014 a0001c0005t0014	a0001c0005t0014g0004 a0001c0005t0014g0004	1	41	0.0244	30	c.170 others(49): Show c.1708+4245_1708+4246insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	17/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR2_chr1_237037184_237838988	237789505	C C	CCATGGCT others(23): Show CCATGGCTGCAGGTATAGTTCTATTATAGGT	intron_variant intron_variant	MODIFIER	HG02523.hp2 NA18747.hp1 NA18962.hp1 HG02523.hp2 NA18747.hp1 NA18962.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0007 a0002c0009 a0001c0003 a0001c0007 a0002c0009	a0001c0003t0004 a0001c0007t0021 a0002c0009t0008 a0001c0003t0004 a0001c0007t0021 a0002c0009t0008	a0001c0003t0004g0060 a0001c0007t0021g0048 a0002c0009t0008g0040 a0001c0003t0004g0060 a0001c0007t0021g0048 a0002c0009t0008g0040	3	54	0.0556	30	c.134 others(51): Show c.13476+1431_13476+1460dupCATGGCTGCAGGTATAGTTCTATT ATAGGT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	92/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
RYR3_chr15_33305967_33871102	33379687	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0003 a0005c0032t0003	a0005c0032t0003g0072 a0005c0032t0003g0072	1	68	0.0147	30	c.51+ others(47): Show c.51+68592_51+68593insCTCTCTCTCTCTCTATATATATATATAT AT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33460940	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0027 a0001c0005t0001g0027	1	31	0.0323	30	c.52- others(47): Show c.52-12457_52-12456insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33464489	T T	TATATATA others(23): Show TATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03209.hp2 HG02145.hp2 HG03209.hp2	a0006 a0025 a0006 a0025	a0006c0048 a0025c0036 a0006c0048 a0025c0036	a0006c0048t0004 a0025c0036t0010 a0006c0048t0004 a0025c0036t0010	a0006c0048t0004g0002 a0025c0036t0010g0088 a0006c0048t0004g0002 a0025c0036t0010g0088	2	130	0.0154	30	c.52- others(45): Show c.52-8929_52-8928insTATATATATATATATATATATATACACACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	1/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0093 a0002c0093	a0002c0093t0004 a0002c0093t0004	a0002c0093t0004g0050 a0002c0093t0004g0050	1	30	0.0333	30	c.561 others(47): Show c.5619+853_5619+854insGTGTATATATATATATATATATATATAT AT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664589	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0047 a0047	a0047c0056 a0047c0056	a0047c0056t0001 a0047c0056t0001	a0047c0056t0001g0093 a0047c0056t0001g0093	1	30	0.0333	30	c.561 others(47): Show c.5619+853_5619+854insGTGTGTGTGTATATATATATATATATAT AT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33664614	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0092 a0002c0092	a0002c0092t0002 a0002c0092t0002	a0002c0092t0002g0144 a0002c0092t0002g0144	1	119	0.0084	30	c.561 others(47): Show c.5619+878_5619+879insTATATATATATATATATATATATATATA CA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	36/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33725180	C C	CACACACA others(23): Show CACACACACACACACACACACACACATATAT	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0032 a0001c0003t0001g0032	1	130	0.0077	30	c.691 others(49): Show c.6912+1027_6912+1028insCATATATACACACACACACACACACA CACA	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	45/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789658	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	79	0.0127	30	c.983 others(49): Show c.9830+1201_9830+1202insATATATATATATATATATATATATAT TTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33789986	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0041 a0041	a0041c0041 a0041c0041	a0041c0041t0002 a0041c0041t0002	a0041c0041t0002g0114 a0041c0041t0002g0114	1	50	0.0200	30	c.983 others(49): Show c.9830+1551_9830+1552insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	67/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
RYR3_chr15_33305967_33871102	33858567	T T	TCATCGTC others(23): Show TCATCGTCTCTCAGAACAGAGAGCAAAGTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00323.hp2 others(57): Show HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp1 HG01106.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp2 HG02109.hp2 HG02155.hp1 HG02155.hp2 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG02738.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03688.hp2 HG04184.hp2 NA18522.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18959.hp1 NA18981.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19056.hp1 NA19062.hp1 NA19062.hp2 NA19064.hp2 NA19067.hp2 NA20905.hp2	a0001 a0002 a0003 others(21): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0018 a0020 a0022 a0030 a0031 a0032 a0037 a0038 a0043 a0047 a0049 a0050 a0052	a0001c0001 a0001c0002 a0001c0003 others(45): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0001c0015 a0001c0079 a0001c0083 a0001c0095 a0001c0096 a0001c0098 a0001c0101 a0002c0090 a0002c0119 a0003c0043 a0004c0006 a0004c0068 a0004c0069 a0004c0070 a0004c0113 a0005c0008 a0005c0030 a0006c0042 a0006c0061 a0006c0062 a0006c0097 a0007c0021 a0007c0073 a0008c0007 a0008c0019 a0009c0054 a0011c0063 a0014c0025 a0014c0027 a0018c0102 a0020c0105 a0022c0115 a0030c0100 a0031c0052 a0032c0076 a0037c0039 a0038c0020 a0043c0024 a0047c0056 a0049c0111 a0050c0060 a0052c0034	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(46): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0013t0001 a0001c0015t0001 a0001c0079t0006 a0001c0083t0001 a0001c0095t0001 a0001c0096t0001 a0001c0098t0001 a0001c0101t0001 a0002c0090t0001 a0002c0119t0001 a0003c0043t0001 a0004c0006t0001 a0004c0068t0001 a0004c0069t0006 a0004c0070t0001 a0004c0113t0001 a0005c0008t0001 a0005c0030t0001 a0006c0042t0001 a0006c0061t0001 a0006c0062t0001 a0006c0097t0001 a0007c0021t0001 a0007c0073t0001 a0008c0007t0001 a0008c0019t0001 a0009c0054t0001 a0011c0063t0001 a0014c0025t0001 a0014c0027t0001 a0018c0102t0001 a0020c0105t0001 a0022c0115t0006 a0030c0100t0001 a0031c0052t0001 a0032c0076t0001 a0037c0039t0001 a0038c0020t0001 a0043c0024t0001 a0047c0056t0001 a0049c0111t0001 a0050c0060t0001 a0052c0034t0001	a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 others(57): Show a0001c0001t0001g0044 a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0002t0001g0018 a0001c0002t0001g0043 a0001c0003t0001g0006 a0001c0003t0001g0032 a0001c0003t0006g0029 a0001c0004t0001g0036 a0001c0004t0001g0083 a0001c0004t0001g0127 a0001c0005t0001g0005 a0001c0005t0001g0027 a0001c0005t0001g0117 a0001c0013t0001g0026 a0001c0015t0001g0118 a0001c0079t0006g0038 a0001c0083t0001g0143 a0001c0095t0001g0041 a0001c0096t0001g0120 a0001c0098t0001g0151 a0001c0101t0001g0128 a0002c0090t0001g0076 a0002c0119t0001g0090 a0003c0043t0001g0106 a0004c0006t0001g0119 a0004c0006t0001g0149 a0004c0068t0001g0033 a0004c0069t0006g0009 a0004c0070t0001g0010 a0004c0113t0001g0095 a0005c0008t0001g0019 a0005c0008t0001g0124 a0005c0030t0001g0007 a0006c0042t0001g0031 a0006c0061t0001g0022 a0006c0062t0001g0108 a0006c0097t0001g0081 a0007c0021t0001g0153 a0007c0073t0001g0138 a0008c0007t0001g0097 a0008c0007t0001g0101 a0008c0019t0001g0001 a0009c0054t0001g0112 a0011c0063t0001g0126 a0014c0025t0001g0057 a0014c0027t0001g0046 a0018c0102t0001g0078 a0020c0105t0001g0084 a0022c0115t0006g0042 a0030c0100t0001g0021 a0031c0052t0001g0137 a0032c0076t0001g0055 a0037c0039t0001g0053 a0038c0020t0001g0074 a0043c0024t0001g0110 a0047c0056t0001g0093 a0049c0111t0001g0028 a0050c0060t0001g0125 a0052c0034t0001g0092	60	152	0.3947	30	c.141 others(49): Show c.14142+657_14142+686dupCGTCTCTCAGAACAGAGAGCAAAGTC CCAT	RYR3	ENSG00000198838.15	transcript	ENST00000634891.2	protein_coding	99/103		INFO_REALIGN_3_PRIME	chr15	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02027.hp1 HG02257.hp1 others(18): Show HG01261.hp2 HG02027.hp1 HG02257.hp1 HG02630.hp1 HG02647.hp2 HG03490.hp1 HG03492.hp2 NA18943.hp2 NA18964.hp2 NA18967.hp1 NA18975.hp2 NA18978.hp2 NA18983.hp1 NA18991.hp1 NA19001.hp2 NA19011.hp1 NA19043.hp1 NA19055.hp2 NA19063.hp1 NA19077.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0083 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0083 a0001c0001t0001g0095 a0001c0001t0001g0156 a0001c0002t0001g0186 a0001c0002t0001g0205 a0001c0002t0002g0019 a0001c0002t0002g0033 a0001c0002t0002g0061 a0001c0002t0002g0176 a0001c0002t0003g0206	21	61	0.3443	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00609.hp1 others(80): Show HG00438.hp1 HG00438.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp2 HG01069.hp1 HG01081.hp2 HG01175.hp2 HG01243.hp2 HG01257.hp1 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02717.hp2 HG02896.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp2 HG03927.hp1 NA18906.hp1 NA18942.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp2 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0087 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0006g0100 a0001c0002t0001g0051 a0001c0002t0001g0098 a0001c0002t0001g0116 a0001c0002t0001g0174 a0001c0002t0001g0196 a0001c0002t0002g0007 a0001c0002t0002g0028 a0001c0002t0002g0034 a0001c0002t0002g0039 a0001c0002t0002g0062 a0001c0002t0002g0080 a0001c0002t0002g0195 a0001c0002t0003g0210	83	123	0.6748	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGAGGGGGGGGGTGGGGGGG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	41	0.0244	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCACCCCCCCCCTCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGGAGGGGGGGGCGGGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0178 a0001c0002t0002g0178	1	41	0.0244	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCGCCCCCCCCTCCCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603392	A A	AGGGGGTG others(23): Show AGGGGGTGGGGGGTGGGGGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	41	0.0244	30	c.-1- others(43): Show c.-1-977_-1-976insCCCCCCCCGCCCCCCCCACCCCCCACCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18947.hp1 HG01258.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0110 a0001c0002t0001g0151 a0001c0001t0001g0110 a0001c0002t0001g0151	2	412	0.0049	30	c.-1- others(43): Show c.-1-983_-1-982insCCCCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGCGGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0076 a0001c0002t0002g0076	1	411	0.0024	30	c.-1- others(43): Show c.-1-983_-1-982insCACCCCCCCCCCCCGCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100B_chr21_46593604_46610082	46603398	T T	TGGGGGGA others(23): Show TGGGGGGAGGGGGGGGGCGGGGGGGGGGGTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0077 a0001c0002t0002g0077	1	411	0.0024	30	c.-1- others(43): Show c.-1-983_-1-982insCACCCCCCCCCCCGCCCCCCCCCTCCCCCC	S100B	ENSG00000160307.10	transcript	ENST00000291700.9	protein_coding	1/2			chr21	TogoVar
S100PBP_chr1_32812653_32863875	32824827	C C	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0267 a0001c0001t0008g0267	1	19	0.0526	30	c.-11 others(47): Show c.-119-467_-119-466insTATATATATATATATATATATATATATA TA	S100PBP	ENSG00000116497.18	transcript	ENST00000373475.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAA1_chr11_18261264_18274967	18264773	A A	AGAGGGGA others(23): Show AGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0003 a0003c0003t0001g0003	1	307	0.0033	30	c.-15 others(41): Show c.-1528_-1527insGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG	SAA1	ENSG00000173432.13	transcript	ENST00000356524.9	protein_coding		1490		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18076631	A A	AAAAAAGA others(23): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0017 a0004c0004t0001g0017	1	221	0.0045	30	c.37 others(41): Show c.3767_*3768insCTTTCTTTCTTTCTTTCTTTCTTTCTTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding		3660		chr11	TogoVar
SAAL1_chr11_18075292_18111082	18090417	T T	TAAAAGGA others(23): Show TAAAAGGAAAAGCATACCTGCTTGTTTCCAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0012 a0012	a0012c0019 a0012c0019	a0012c0019t0001 a0012c0019t0001	a0012c0019t0001g0121 a0012c0019t0001g0121	1	282	0.0035	30	c.460 others(40): Show c.460_473+16dupCTGGAAACAAGCAGGTATGCTTTTCCTTTT	SAAL1	ENSG00000166788.10	transcript	ENST00000524803.6	protein_coding	5/11			chr11	TogoVar
SAC3D1_chr11_65036210_65049828	65039029	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	172	0.0058	30	c.-22 others(41): Show c.-2264_-2263insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SAC3D1	ENSG00000168061.17	transcript	ENST00000652489.1	protein_coding		2180		chr11	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0018 a0001c0002t0004g0018	1	53	0.0189	30	c.-28 others(41): Show c.-2803_-2802insTATATATATATATATATATATTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SACM1L_chr3_45684396_45750409	45686663	A A	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 NA18987.hp2 HG03831.hp1 NA18987.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0003 a0001c0002t0005	a0001c0002t0003g0002 a0001c0002t0005g0163 a0001c0002t0003g0002 a0001c0002t0005g0163	2	54	0.0370	30	c.-28 others(41): Show c.-2803_-2802insTATATATATATATATATTTTTTTTTTTTTT	SACM1L	ENSG00000211456.14	transcript	ENST00000389061.10	protein_coding		2732		chr3	TogoVar
SAE1_chr19_47125835_47215636	47182496	T T	TGTGTGTG others(23): Show TGTGTGTGTGTGTGTGTGTGTGTGCGCGCGC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	203	0.0049	30	c.733 others(49): Show c.733+12574_733+12575insTGTGTGTGTGTGTGTGTGTGTGCGCG CGCG	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAE1_chr19_47125835_47215636	47201360	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	33	0.0303	30	c.879 others(47): Show c.879-2282_879-2281insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SAE1	ENSG00000142230.13	transcript	ENST00000270225.12	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD11_chr1_918923_949574	934259	C C	CGGGGGAG others(23): Show CGGGGGAGGCGGCTCCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0358 a0001c0001t0012g0358	1	432	0.0023	30	c.843 others(47): Show c.843-1513_843-1512insGGGGGAGGCGGCTCCGTTACAGGTGGGC GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13			chr1	TogoVar
SAMD11_chr1_918923_949574	934511	C C	CGGGGGGG others(23): Show CGGGGGGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0314 a0013c0020t0002g0314	1	407	0.0025	30	c.843 others(47): Show c.843-1253_843-1252insGCGGCTGCGTTACAGGTGGGCGGGGGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934517	G G	GGGCGGCT others(23): Show GGGCGGCTGCGTTACAGGTGGGCGGGGGGGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0002 a0008c0013t0002	a0008c0013t0002g0284 a0008c0013t0002g0284	1	355	0.0028	30	c.843 others(47): Show c.843-1228_843-1227insGGAGGCGGCTGCGTTACAGGTGGGCGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934567	C C	CGGGGGGG others(23): Show CGGGGGGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02922.hp2 HG02559.hp2 HG02922.hp2	a0019 a0021 a0019 a0021	a0019c0030 a0021c0036 a0019c0030 a0021c0036	a0019c0030t0006 a0021c0036t0006 a0019c0030t0006 a0021c0036t0006	a0019c0030t0006g0298 a0021c0036t0006g0303 a0019c0030t0006g0298 a0021c0036t0006g0303	2	420	0.0048	30	c.843 others(47): Show c.843-1200_843-1199insGGGGCGGCTGCGTTACAGGTGGGCGGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934595	C C	CGGGGGGG others(23): Show CGGGGGGGGGCGGCTGCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0278 a0001c0019t0006g0278	1	419	0.0024	30	c.843 others(47): Show c.843-1169_843-1168insGCGGCTGCGTTACAGGTGGGCGGGGGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934657	A A	AGGCGGCT others(23): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0020 a0013c0020	a0013c0020t0002 a0013c0020t0002	a0013c0020t0002g0314 a0013c0020t0002g0314	1	380	0.0026	30	c.843 others(47): Show c.843-1088_843-1087insGGGGGCGGCTGCGTTACAGGTGGGCGGG GG	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD11_chr1_918923_949574	934679	C C	CGGGGGAG others(23): Show CGGGGGAGGCGGCTGCGTTACAGGTGGGCGG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0002 a0004c0008t0002	a0004c0008t0002g0267 a0004c0008t0002g0267	1	422	0.0024	30	c.843 others(47): Show c.843-1080_843-1079insGCGTTACAGGTGGGCGGGGGGGAGGCGG CT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SAMD8_chr10_75106656_75187123	75148346	C C	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA20752.hp2 HG03471.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0143 a0001c0001t0004g0128 a0001c0001t0003g0143 a0001c0001t0004g0128	2	65	0.0308	30	c.-15 others(47): Show c.-15-2143_-15-2142insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	SAMD8	ENSG00000156671.15	transcript	ENST00000542569.6	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr10	TogoVar
SAP130_chr2_127936222_128033059	128023907	T T	TTATTCTA others(23): Show TTATTCTAGAGAATAATAATATTCTCTAGAA	intron_variant intron_variant	MODIFIER	HG02738.hp1 NA19030.hp2 HG02738.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0172 a0001c0001t0001g0173	2	348	0.0057	30	c.112 others(47): Show c.112+2244_112+2273dupTTCTAGAGAATATTATTATTCTCTAGAA TA	SAP130	ENSG00000136715.19	transcript	ENST00000643581.2	protein_coding	2/20			chr2	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCAC others(23): Show GCGCGCACACACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0018 a0005c0011t0001g0018	1	362	0.0028	30	c.-89 others(39): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGTGTGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAP25_chr7_100567228_100578900	100574632	G G	GCGCGCGC others(23): Show GCGCGCGCGCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG03098.hp1 HG01169.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	363	0.0055	30	c.-89 others(39): Show c.-891_-890insTGTGTGTGTGTGTGTGTGTGTGCGCGCGCG	SAP25	ENSG00000205307.12	transcript	ENST00000622764.3	protein_coding		733		chr7	TogoVar
SAR1A_chr10_70142289_70175514	70149547	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0107 a0001c0001t0107	a0001c0001t0107g0242 a0001c0001t0107g0242	1	24	0.0417	30	c.29 others(41): Show c.2928_*2929insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	SAR1A	ENSG00000079332.16	transcript	ENST00000373241.9	protein_coding	7/7	2928		chr10	TogoVar
SARAF_chr8_30058003_30088064	30064561	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	13	0.0769	30	c.995 others(45): Show c.995-649_995-648insAAAAAAAAAAAAAAAATATATATATATATA	SARAF	ENSG00000133872.14	transcript	ENST00000256255.11	protein_coding	5/5			chr8	TogoVar

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