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
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(25): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	134	0.0075	-32	c.24 others(43): Show c.2403_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding		2094		chr5	TogoVar
EDIL3_chr5_83935554_84389880	84141924	CACATATA others(25): Show CACATATATATATATATATATATACATAGATCT	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	78	0.0128	-32	c.356 others(49): Show c.356-4602_356-4571delAGATCTATGTATATATATATATATATAT ATGT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10			chr5	TogoVar
EDN3_chr20_59295611_59330992	59326488	GGCACTGC others(25): Show GGCACTGCTGGGGGGCTCAGGATTCTAGGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02559.hp1 HG01243.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0150 a0001c0001t0002g0116 a0001c0001t0001g0150 a0001c0001t0002g0116	2	396	0.0051	-32	c.20 others(43): Show c.2030_*2061delGCACTGCTGGGGGGCTCAGGATTCTAGGGAGA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding		497		chr20	TogoVar
EEF2KMT_chr16_5079284_5102795	5080591	GCTGTGCC others(25): Show GCTGTGCCAGGGCAGGAGGAGTCCTCGTGTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0031 a0003c0003t0004g0031	1	440	0.0023	-32	c.50 others(43): Show c.5009_*5040delGGGACACGAGGACTCCTCCTGCCCTGGCACAG	EEF2KMT	ENSG00000118894.15	transcript	ENST00000427587.9	protein_coding		3692		chr16	TogoVar
EEF2K_chr16_22201278_22293738	22204111	GCAATCTG others(25): Show GCAATCTGCCTGCCTCCCAAAGTATTGTGATCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG01109.hp1 HG02895.hp2 HG02897.hp1 HG03471.hp2	a0003 a0003	a0003c0005 a0003c0014 a0003c0005 a0003c0014	a0003c0005t0002 a0003c0005t0011 a0003c0014t0008 a0003c0005t0002 a0003c0005t0011 a0003c0014t0008	a0003c0005t0002g0283 a0003c0005t0011g0282 a0003c0005t0011g0284 others(1): Show a0003c0005t0002g0283 a0003c0005t0011g0282 a0003c0005t0011g0284 a0003c0014t0008g0281	4	288	0.0139	-32	c.-26 others(43): Show c.-2644_-2613delCAATCTGCCTGCCTCCCAAAGTATTGTGATCA	EEF2K	ENSG00000103319.12	transcript	ENST00000263026.10	protein_coding		2166		chr16	TogoVar
EFCAB13_chr17_47318955_47446312	47325921	AAAATATA others(25): Show AAAATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG01109.hp1 others(37): Show HG00280.hp2 HG00738.hp1 HG01109.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01975.hp1 HG01993.hp2 HG02015.hp2 HG02056.hp1 HG02083.hp1 HG02523.hp1 HG02559.hp2 HG02735.hp2 HG03130.hp1 HG03492.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 NA18944.hp2 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18971.hp1 NA18974.hp2 NA18975.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19010.hp1 NA19030.hp1 NA19057.hp2 NA19062.hp1 NA19067.hp2 NA19079.hp1 NA19081.hp2 NA20300.hp1	a0003 a0004 a0015 a0003 a0004 a0015	a0003c0008 a0004c0003 a0015c0021 a0003c0008 a0004c0003 a0015c0021	a0003c0008t0001 a0004c0003t0001 a0004c0003t0006 others(1): Show a0003c0008t0001 a0004c0003t0001 a0004c0003t0006 a0015c0021t0006	a0003c0008t0001g0134 a0004c0003t0001g0001 a0004c0003t0001g0003 others(34): Show a0003c0008t0001g0134 a0004c0003t0001g0001 a0004c0003t0001g0003 a0004c0003t0001g0020 a0004c0003t0001g0021 a0004c0003t0001g0022 a0004c0003t0001g0023 a0004c0003t0001g0024 a0004c0003t0001g0025 a0004c0003t0001g0026 a0004c0003t0001g0027 a0004c0003t0001g0028 a0004c0003t0001g0029 a0004c0003t0001g0030 a0004c0003t0001g0031 a0004c0003t0001g0032 a0004c0003t0001g0033 a0004c0003t0001g0034 a0004c0003t0001g0035 a0004c0003t0001g0036 a0004c0003t0001g0037 a0004c0003t0001g0038 a0004c0003t0001g0039 a0004c0003t0001g0040 a0004c0003t0001g0041 a0004c0003t0001g0042 a0004c0003t0001g0043 a0004c0003t0001g0044 a0004c0003t0001g0045 a0004c0003t0001g0046 a0004c0003t0001g0047 a0004c0003t0001g0048 a0004c0003t0001g0065 a0004c0003t0001g0066 a0004c0003t0001g0067 a0004c0003t0006g0260 a0015c0021t0006g0261	40	351	0.1140	-32	c.-24 others(49): Show c.-247-303_-247-272delAATATATATATATATATATATATATATA TATA	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43675312	GTATATTA others(25): Show GTATATTATACTATAATATATAATATAATATAC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(163): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp2 HG03669.hp1 HG03834.hp1 HG03942.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp1 NA18967.hp1 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2	a0001 a0003 a0006 others(15): Show a0001 a0003 a0006 a0007 a0008 a0011 a0013 a0014 a0017 a0018 a0019 a0020 a0022 a0025 a0026 a0029 a0031 a0032	a0001c0001 a0001c0013 a0001c0023 others(22): Show a0001c0001 a0001c0013 a0001c0023 a0001c0027 a0001c0035 a0001c0046 a0001c0047 a0003c0003 a0006c0006 a0007c0014 a0008c0008 a0008c0029 a0011c0016 a0013c0018 a0014c0017 a0017c0041 a0018c0039 a0019c0031 a0020c0025 a0022c0028 a0025c0034 a0026c0042 a0029c0043 a0031c0044 a0032c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0013t0001 a0001c0023t0001 a0001c0027t0001 a0001c0035t0001 a0001c0046t0001 a0001c0047t0001 a0003c0003t0001 a0003c0003t0008 a0006c0006t0001 a0007c0014t0002 a0007c0014t0005 a0008c0008t0001 a0008c0029t0001 a0011c0016t0001 a0011c0016t0006 a0013c0018t0001 a0014c0017t0001 a0017c0041t0001 a0018c0039t0001 a0019c0031t0002 a0020c0025t0002 a0022c0028t0003 a0025c0034t0001 a0026c0042t0001 a0029c0043t0001 a0031c0044t0001 a0032c0022t0001	a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 others(163): Show a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0153 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0258 a0001c0001t0001g0285 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0007g0238 a0001c0013t0001g0031 a0001c0013t0001g0187 a0001c0013t0001g0188 a0001c0013t0001g0208 a0001c0013t0001g0233 a0001c0023t0001g0254 a0001c0027t0001g0075 a0001c0035t0001g0235 a0001c0046t0001g0067 a0001c0047t0001g0178 a0003c0003t0001g0023 a0003c0003t0001g0072 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0184 a0003c0003t0001g0185 a0003c0003t0001g0186 a0003c0003t0001g0206 a0003c0003t0001g0207 a0003c0003t0001g0209 a0003c0003t0001g0210 a0003c0003t0001g0211 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0003c0003t0001g0215 a0003c0003t0001g0216 a0003c0003t0001g0217 a0003c0003t0001g0219 a0003c0003t0001g0220 a0003c0003t0001g0221 a0003c0003t0001g0222 a0003c0003t0001g0224 a0003c0003t0001g0225 a0003c0003t0001g0226 a0003c0003t0001g0227 a0003c0003t0001g0228 a0003c0003t0001g0229 a0003c0003t0001g0230 a0003c0003t0001g0231 a0003c0003t0001g0232 a0003c0003t0008g0287 a0006c0006t0001g0163 a0006c0006t0001g0257 a0006c0006t0001g0265 a0006c0006t0001g0269 a0006c0006t0001g0270 a0006c0006t0001g0271 a0006c0006t0001g0272 a0006c0006t0001g0273 a0006c0006t0001g0276 a0006c0006t0001g0277 a0006c0006t0001g0278 a0006c0006t0001g0279 a0006c0006t0001g0280 a0007c0014t0002g0015 a0007c0014t0002g0016 a0007c0014t0002g0017 a0007c0014t0002g0018 a0007c0014t0005g0014 a0008c0008t0001g0026 a0008c0008t0001g0033 a0008c0008t0001g0035 a0008c0008t0001g0036 a0008c0008t0001g0037 a0008c0008t0001g0038 a0008c0008t0001g0202 a0008c0029t0001g0034 a0011c0016t0001g0274 a0011c0016t0001g0281 a0011c0016t0006g0266 a0013c0018t0001g0090 a0013c0018t0001g0092 a0014c0017t0001g0282 a0014c0017t0001g0283 a0017c0041t0001g0189 a0018c0039t0001g0091 a0019c0031t0002g0012 a0020c0025t0002g0011 a0022c0028t0003g0003 a0025c0034t0001g0082 a0026c0042t0001g0275 a0029c0043t0001g0223 a0031c0044t0001g0218 a0032c0022t0001g0237	166	273	0.6081	-32	c.141 others(51): Show c.1419+2652_1419+2683delGTATATTATATTATATATTATAGTAT AATATA	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	13/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43718044	GCATCCAT others(25): Show GCATCCATCCATCCATCCACCCATCCATCCATC	G G	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	288	0.0035	-32	c.758 others(49): Show c.758-1104_758-1073delGATGGATGGATGGGTGGATGGATGGATG GATG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	8/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32939125	CTCTTTCT others(25): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0222 a0001c0001t0005g0222	1	78	0.0128	-32	c.279 others(51): Show c.2791-4464_2791-4433delTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFHC2_chrX_44142872_44348672	44209019	CTGTGTGT others(25): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	7	0.1429	-32	c.175 others(53): Show c.1751+20598_1751+20629delCACACACACACACACACACACACA CACACACA	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	11/14			chrX	TogoVar
EFNA5_chr5_107371894_107675937	107482800	CTCTCTCT others(25): Show CTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 NA19030.hp1 HG02486.hp1 HG02717.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0003 a0001c0001t0012	a0001c0001t0003g0068 a0001c0001t0012g0112 a0001c0001t0012g0113 a0001c0001t0003g0068 a0001c0001t0012g0112 a0001c0001t0012g0113	3	175	0.0171	-32	c.126 others(51): Show c.126-55323_126-55292delCAGAGACAGAGAGAGAGACAGAGAGA GAGAGA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EGFL6_chrX_13564601_13638575	13577315	TATATATA others(25): Show TATATATATATATATATATATATATATACATAC	T T	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18966.hp1 NA18950.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0185 a0001c0001t0002g0184 a0001c0001t0001g0185 a0001c0001t0002g0184	2	300	0.0067	-32	c.74+ others(47): Show c.74+7382_74+7413delTATATATATATATATATATATATATACATA CA	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFR_chr7_55014017_55216628	55089939	CTTATTTA others(25): Show CTTATTTATTTATTTATTTATTTATTTATTTAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0006 a0001c0039t0006	a0001c0039t0006g0006 a0001c0039t0006g0006	1	24	0.0417	-32	c.89- others(49): Show c.89-52332_89-52301delATTTATTTATTTATTTATTTATTTATTT ATTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	110006236	TCAAGAGA others(25): Show TCAAGAGACTGAAGCAGGAGGGTCACTTGAACC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp2 HG01515.hp1 others(7): Show HG00140.hp1 HG01123.hp2 HG01515.hp1 HG01517.hp2 HG01934.hp2 HG02148.hp1 HG03239.hp1 HG03491.hp2 HG04184.hp2 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0002 a0001c0007t0002 a0002c0002t0012 a0001c0001t0002 a0001c0007t0002 a0002c0002t0012	a0001c0001t0002g0065 a0001c0007t0002g0006 a0001c0007t0002g0100 others(6): Show a0001c0001t0002g0065 a0001c0007t0002g0006 a0001c0007t0002g0100 a0001c0007t0002g0101 a0001c0007t0002g0102 a0001c0007t0002g0103 a0001c0007t0002g0116 a0001c0007t0002g0117 a0002c0002t0012g0211	10	386	0.0259	-32	c.329 others(51): Show c.3291+1621_3291+1652delACTGAAGCAGGAGGGTCACTTGAACC CAAGAG	EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	22/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231359054	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02818.hp2 HG02970.hp1 others(2): Show HG02258.hp1 HG02818.hp2 HG02970.hp1 HG03579.hp2 NA19240.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0007c0008t0001 a0001c0001t0001 a0007c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0082 a0007c0008t0001g0311	5	30	0.1667	-32	c.73 others(43): Show c.7325_*7356delTATATATATATATATATATATATATATATATA	EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding		4701		chr1	TogoVar
EHMT1_chr9_137614005_137841127	137774671	GGCCCCCT others(25): Show GGCCCCCTGGATCTGGTGGGTGTGGGCACGCCT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01516.hp1 HG01884.hp1 others(20): Show HG01257.hp1 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp2 HG02145.hp1 HG02273.hp2 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 others(20): Show a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0089 a0001c0003t0001g0096 a0001c0003t0001g0103 a0001c0003t0001g0106 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	23	168	0.1369	-32	c.164 others(49): Show c.1648-417_1648-386delGTGGGCACGCCTGCCCCCTGGATCTGGT GGGT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B1_chr12_123615406_123638686	123620580	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00738.hp2 others(28): Show HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01175.hp1 HG01255.hp1 HG01516.hp1 HG01934.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02647.hp2 HG02698.hp2 HG02895.hp2 HG02922.hp1 HG02970.hp2 HG03017.hp2 HG03139.hp2 HG03225.hp1 HG03490.hp1 HG03492.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04204.hp2 NA18522.hp1 NA18977.hp1 NA19005.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0028 a0001c0001t0003 a0001c0001t0028	a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0017 others(11): Show a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0028g0187 a0001c0001t0028g0191	31	94	0.3298	-32	c.11 others(43): Show c.1144_*1175delTATATATATATATATATATATATATATATATA	EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	9/9	1144		chr12	TogoVar
EIF2B3_chr1_44845522_44991595	44942399	ATATATAT others(25): Show ATATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0229 a0001c0002t0001g0229	1	288	0.0035	-32	c.295 others(47): Show c.295-766_295-735delAAAAAAAAAAAAAATATATATATATATATA TA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11			chr1	TogoVar
EIF2B5_chr3_184130358_184150311	184138747	AGCCTCAG others(25): Show AGCCTCAGCCTCCCAGGTTCAAGGGAACCTCCT	A A	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0086	1	424	0.0024	-32	c.765 others(47): Show c.765+514_765+545delCAGGTTCAAGGGAACCTCCTGCCTCAGCCT CC	EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF2S2_chr20_34083309_34117243	34111470	CGCCGGTA others(25): Show CGCCGGTAGCCCTCTGTTAAGGGAAGCTCAGGG	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0040 a0001c0002t0001g0040	1	360	0.0028	-32	c.15+ others(45): Show c.15+594_15+625delCCCTGAGCTTCCCTTAACAGAGGGCTACCGGC	EIF2S2	ENSG00000125977.7	transcript	ENST00000374980.3	protein_coding	1/8			chr20	TogoVar
EIF2S3B_chr12_10500890_10513525	10504456	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01261.hp2 others(8): Show HG01168.hp1 HG01169.hp2 HG01261.hp2 HG02109.hp1 HG02451.hp1 HG02622.hp1 HG02723.hp1 HG02723.hp2 HG03139.hp1 HG03486.hp1 NA19030.hp1	a0004 a0004	a0004c0005 a0004c0017 a0004c0005 a0004c0017	a0004c0005t0004 a0004c0017t0004 a0004c0005t0004 a0004c0017t0004	a0004c0005t0004g0000 a0004c0017t0004g0000 a0004c0005t0004g0000 a0004c0017t0004g0000	11	60	0.1833	-32	c.-14 others(43): Show c.-1446_-1415delATATATATATATATATATATATATATATATAT	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1433		chr12	TogoVar
EIF3B_chr7_2349827_2385745	2384764	CCCCACTG others(25): Show CCCCACTGGGCCCAGTTTCTAGTCAGGGTTCGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0260 a0001c0003t0001g0260	1	382	0.0026	-32	c.45 others(43): Show c.4576_*4607delCCCACTGGGCCCAGTTTCTAGTCAGGGTTCGG	EIF3B	ENSG00000106263.19	transcript	ENST00000360876.9	protein_coding		4020		chr7	TogoVar
EIF3E_chr8_108196216_108253717	108204742	TATATAGA others(25): Show TATATAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	344	0.0029	-32	c.106 others(51): Show c.1062-1271_1062-1240delCTCTCTCTCTCTCTCTCTCTCTCTCT CTATAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204744	TATAGAGA others(25): Show TATAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0008 a0001c0001t0006g0008	1	344	0.0029	-32	c.106 others(51): Show c.1062-1273_1062-1242delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTAT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204746	TAGAGAGA others(25): Show TAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	293	0.0034	-32	c.106 others(51): Show c.1062-1275_1062-1244delCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3E_chr8_108196216_108253717	108204750	GAGAGAGA others(25): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(9): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03831.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0010 a0001c0001t0025 a0001c0001t0006 a0001c0001t0010 a0001c0001t0025	a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0176 others(8): Show a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0176 a0001c0001t0006g0177 a0001c0001t0006g0184 a0001c0001t0006g0186 a0001c0001t0006g0188 a0001c0001t0006g0189 a0001c0001t0006g0190 a0001c0001t0010g0174 a0001c0001t0025g0187	12	205	0.0585	-32	c.106 others(51): Show c.1062-1279_1062-1248delGTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752665	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02698.hp1 HG01358.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0106 a0001c0001t0005g0203 a0001c0001t0001g0106 a0001c0001t0005g0203	2	134	0.0149	-32	c.132 others(49): Show c.132+2969_132+3000delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752740	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	321	0.0031	-32	c.132 others(49): Show c.132+2894_132+2925delCCTCCCTCCCTCCCTCCCTCTTTCTTTC TTTC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571834	CTTTTATA others(25): Show CTTTTATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	411	0.0024	-32	c.-10 others(42): Show c.-1007_-976delTTTTATATATATATATATATATATATATATAT	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		990		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03831.hp2 NA18747.hp1 others(1): Show HG03492.hp1 HG03831.hp2 NA18747.hp1 NA18959.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0005 a0001c0004t0002g0005 a0001c0004t0001g0005 a0001c0004t0002g0005	4	308	0.0130	-32	c.-10 others(42): Show c.-1004_-973delTATATATATATATATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571878	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG02723.hp2 HG01192.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0002g0006 a0001c0001t0001g0008 a0001c0001t0002g0006	2	424	0.0047	-32	c.-96 others(41): Show c.-963_-932delATATATATATATATATATATATATATATATAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		946		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571880	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG03654.hp2 NA18980.hp1 others(2): Show HG01070.hp2 HG03654.hp2 NA18980.hp1 NA18984.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0002g0001	5	433	0.0115	-32	c.-96 others(41): Show c.-961_-930delATATATATATATATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		944		chr17	TogoVar
ELAPOR1_chr1_109109115_109211781	109183549	TTTCCTTC others(25): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00738.hp1 others(25): Show HG00140.hp1 HG00140.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01106.hp2 HG01109.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp2 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG02615.hp1 HG02723.hp2 HG02922.hp2 HG02976.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03831.hp1 HG03831.hp2 HG06807.hp1 NA18960.hp1 NA20805.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0019 others(8): Show a0001c0001 a0001c0002 a0001c0019 a0002c0003 a0002c0006 a0002c0009 a0002c0014 a0002c0017 a0003c0004 a0003c0007 a0003c0034	a0001c0001t0003 a0001c0002t0002 a0001c0019t0003 others(8): Show a0001c0001t0003 a0001c0002t0002 a0001c0019t0003 a0002c0003t0003 a0002c0006t0001 a0002c0009t0003 a0002c0014t0012 a0002c0017t0012 a0003c0004t0004 a0003c0007t0004 a0003c0034t0032	a0001c0001t0003g0120 a0001c0002t0002g0177 a0001c0019t0003g0180 others(25): Show a0001c0001t0003g0120 a0001c0002t0002g0177 a0001c0019t0003g0180 a0002c0003t0003g0026 a0002c0006t0001g0009 a0002c0009t0003g0148 a0002c0009t0003g0189 a0002c0009t0003g0222 a0002c0014t0012g0156 a0002c0017t0012g0021 a0002c0017t0012g0025 a0003c0004t0004g0017 a0003c0004t0004g0022 a0003c0004t0004g0024 a0003c0004t0004g0068 a0003c0004t0004g0070 a0003c0004t0004g0071 a0003c0004t0004g0076 a0003c0004t0004g0202 a0003c0004t0004g0207 a0003c0007t0004g0147 a0003c0007t0004g0151 a0003c0007t0004g0176 a0003c0007t0004g0187 a0003c0007t0004g0194 a0003c0007t0004g0195 a0003c0007t0004g0209 a0003c0034t0032g0166	28	216	0.1296	-32	c.953 others(49): Show c.953-1467_953-1436delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCC	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	121	0.0083	-32	c.9+9 others(45): Show c.9+9866_9+9897delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	41016935	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0325 a0001c0003t0001g0325	1	359	0.0028	-32	c.-22 others(51): Show c.-229+2261_-229+2292delATATATATATATATATATATTTTTTT TTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139151032	AAAAGAAA others(25): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0113 a0002c0002t0003g0113	1	99	0.0101	-32	c.-25 others(53): Show c.-251-11567_-251-11536delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELL2_chr5_95880098_95966851	95927704	TACACACA others(25): Show TACACACACACATATGTGTGTATATAGACATAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	204	0.0049	-32	c.196 others(49): Show c.196-8191_196-8160delGTATGTCTATATACACACATATGTGTGT GTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0222 a0001c0001t0003g0222	1	166	0.0060	-32	c.148 others(49): Show c.148-7887_148-7856delTATATATATATATATATATATATATATA TATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(25): Show GCACATACACACACACACACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0013 a0007c0014t0001g0013	1	161	0.0062	-32	c.135 others(51): Show c.135+12296_135+12327delTGTGTGTGTGTGTGTGTGTGTGTGTG TATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELMO2_chr20_46361050_46411615	46369959	GGGGTGTG others(25): Show GGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0234 a0001c0001t0004g0234	1	118	0.0085	-32	c.188 others(49): Show c.1884+452_1884+483delACACACACACACACACACACACACACAC ACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding	20/21			chr20	TogoVar
ELN_chr7_74023173_74074907	74044243	AACAAAGA others(25): Show AACAAAGAAAAAGAAAAAGGAAAAGAAAAGCAG	A A	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0242 a0003c0003t0002g0242	1	366	0.0027	-32	c.469 others(47): Show c.469+324_469+355delACAAAGAAAAAGAAAAAGGAAAAGAAAAGC AG	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	9/32			chr7	TogoVar
ELOVL5_chr6_53262404_53353950	53306355	GGAGAGAG others(25): Show GGAGAGAGAGAGGGGAGAGGGAGAGGGGAGAGA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	316	0.0032	-32	c.-8- others(49): Show c.-8-10680_-8-10649delTCTCTCCCCTCTCCCTCTCCCCTCTCTC TCTC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(25): Show TTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02572.hp2 HG02622.hp2 others(6): Show HG01257.hp1 HG02572.hp2 HG02622.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp2 HG02965.hp1 HG03017.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0359 a0001c0001t0002g0143 others(6): Show a0001c0001t0001g0010 a0001c0001t0001g0359 a0001c0001t0002g0143 a0001c0001t0002g0214 a0001c0001t0002g0216 a0002c0002t0001g0102 a0002c0002t0001g0119 a0002c0002t0001g0312 a0002c0002t0001g0329	9	166	0.0542	-32	c.355 others(47): Show c.355+426_355+457delCTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016503	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0134 a0001c0001t0002g0134	1	382	0.0026	-32	c.355 others(47): Show c.355+468_355+499delTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016507	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03098.hp2 HG02809.hp2 HG03098.hp2	a0003 a0005 a0003 a0005	a0003c0007 a0005c0006 a0003c0007 a0005c0006	a0003c0007t0001 a0005c0006t0001 a0003c0007t0001 a0005c0006t0001	a0003c0007t0001g0377 a0005c0006t0001g0376 a0003c0007t0001g0377 a0005c0006t0001g0376	2	374	0.0053	-32	c.355 others(47): Show c.355+472_355+503delTCTTTCTTTCTTTCTTTCTTCCTTCCTTCC TT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016511	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp1 HG01070.hp2 HG01071.hp1 HG01884.hp1	a0003 a0005 a0003 a0005	a0003c0007 a0005c0006 a0003c0007 a0005c0006	a0003c0007t0001 a0005c0006t0002 a0003c0007t0001 a0005c0006t0002	a0003c0007t0001g0012 a0005c0006t0002g0002 a0003c0007t0001g0012 a0005c0006t0002g0002	3	373	0.0080	-32	c.355 others(47): Show c.355+476_355+507delTCTTTCTTTCTTTCTTCCTTCCTTCCTTCC TT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(25): Show TCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02723.hp1 HG04204.hp2 others(3): Show HG01891.hp1 HG02723.hp1 HG04204.hp2 NA18612.hp1 NA20752.hp1 NA20752.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0002c0002t0001 a0003c0003t0001 a0003c0003t0002	a0002c0002t0001g0007 a0002c0002t0001g0266 a0003c0003t0001g0267 others(3): Show a0002c0002t0001g0007 a0002c0002t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0348 a0003c0003t0001g0349 a0003c0003t0002g0180	6	365	0.0164	-32	c.355 others(47): Show c.355+480_355+511delTCTTTCTTTCTTCCTTCCTTCCTTCCTTCC TT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50484712	GTCCCAGC others(25): Show GTCCCAGCTGTTTGGGAGGCTGAGACAGGAGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0002 a0001c0001t0137g0002	1	350	0.0029	-32	c.24 others(43): Show c.2456_*2487delCCAGCTGTTTGGGAGGCTGAGACAGGAGGATC	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding	7/7	2456	INFO_REALIGN_3_PRIME	chr19	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(25): Show GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00597.hp2 others(144): Show HG00408.hp1 HG00408.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp2 HG04115.hp1 HG04115.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18955.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA18984.hp1 NA19001.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0030 a0001c0008t0005 a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0010 a0002c0002t0014 a0002c0002t0021 a0002c0002t0022 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0002c0002t0031 a0003c0003t0035	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 others(142): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0002g0001 a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0213 a0001c0001t0004g0154 a0001c0001t0004g0156 a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0183 a0001c0001t0005g0189 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0208 a0001c0001t0005g0244 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0007g0124 a0001c0001t0007g0125 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0118 a0001c0001t0008g0119 a0001c0001t0008g0120 a0001c0001t0012g0026 a0001c0001t0013g0008 a0001c0001t0019g0155 a0001c0001t0020g0023 a0001c0001t0023g0005 a0001c0001t0030g0190 a0001c0008t0005g0197 a0002c0002t0001g0002 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0144 a0002c0002t0001g0146 a0002c0002t0001g0150 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0237 a0002c0002t0003g0047 a0002c0002t0007g0163 a0002c0002t0007g0164 a0002c0002t0007g0165 a0002c0002t0007g0166 a0002c0002t0007g0167 a0002c0002t0007g0168 a0002c0002t0009g0171 a0002c0002t0010g0089 a0002c0002t0010g0090 a0002c0002t0010g0145 a0002c0002t0010g0148 a0002c0002t0014g0096 a0002c0002t0014g0137 a0002c0002t0021g0063 a0002c0002t0022g0234 a0002c0002t0024g0095 a0002c0002t0025g0059 a0002c0002t0026g0049 a0002c0002t0031g0138 a0003c0003t0035g0198	147	149	0.9866	-32	c.376 others(49): Show c.376+6223_376+6254delAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMILIN2_chr18_2842006_2921003	2858551	ATATATAT others(25): Show ATATATATATATATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0434 a0001c0002t0005g0434	1	448	0.0022	-32	c.257 others(51): Show c.257+10644_257+10675delGTGTGTGTGTATATATATATATATAT ATGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar

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