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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02809.hp1 HG03209.hp1 others(5): Show HG02135.hp1 HG02809.hp1 HG03209.hp1 HG03491.hp1 HG03704.hp2 NA18941.hp1 NA18974.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0142 others(5): Show a0001c0001t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0142 a0001c0001t0001g0160 a0001c0001t0003g0192 a0001c0002t0002g0019 a0001c0002t0002g0035 a0001c0002t0002g0043	8	352	0.0227	21	c.230 others(38): Show c.230-4001_230-3981dupTTTTTTTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6						chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23830624	A A	ACACACAC others(14): Show ACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0086 a0001c0001t0003g0086	1	352	0.0028	21	c.-48 others(32): Show c.-4835_-4834insGTGTGTGTGTGTGTGTGTGTG		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding					4385		chr9	TogoVar
ELF1_chr13_40926924_41024316	40954420	G G	GCTCTCCC others(14): Show GCTCTCCCTCTCCCTCCTCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(109): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01517.hp1 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02040.hp1 HG02055.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02738.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18964.hp2 NA18970.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp2 NA18983.hp1 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18993.hp2 NA18998.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19030.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19085.hp2 NA19086.hp1 NA20300.hp1 NA20752.hp1 NA21309.hp2	a0002 a0003 a0011 others(1): Show a0002 a0003 a0011 a0012	a0002c0002 a0003c0004 a0003c0016 others(3): Show a0002c0002 a0003c0004 a0003c0016 a0003c0018 a0011c0015 a0012c0017	a0002c0002t0002 a0003c0004t0001 a0003c0016t0001 others(3): Show a0002c0002t0002 a0003c0004t0001 a0003c0016t0001 a0003c0018t0003 a0011c0015t0002 a0012c0017t0004	a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(108): Show a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0078 a0002c0002t0002g0086 a0002c0002t0002g0131 a0002c0002t0002g0170 a0002c0002t0002g0171 a0002c0002t0002g0174 a0002c0002t0002g0193 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0196 a0002c0002t0002g0197 a0002c0002t0002g0200 a0002c0002t0002g0201 a0002c0002t0002g0204 a0002c0002t0002g0205 a0002c0002t0002g0206 a0002c0002t0002g0207 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0251 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0255 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0279 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0283 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0288 a0002c0002t0002g0294 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0351 a0002c0002t0002g0356 a0003c0004t0001g0198 a0003c0004t0001g0199 a0003c0004t0001g0202 a0003c0004t0001g0203 a0003c0004t0001g0214 a0003c0004t0001g0215 a0003c0004t0001g0216 a0003c0004t0001g0217 a0003c0004t0001g0219 a0003c0004t0001g0250 a0003c0004t0001g0252 a0003c0004t0001g0302 a0003c0004t0001g0303 a0003c0016t0001g0052 a0003c0018t0003g0023 a0011c0015t0002g0038 a0012c0017t0004g0047	112	362	0.3094	21	c.254 others(38): Show c.254-2985_254-2984insGGAGAGGAGGGAGAGGGAGAG		ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	3/8						chr13	TogoVar
ELF2_chr4_139052265_139182218	139114561	T T	TCCAGTCT others(14): Show TCCAGTCTCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01175.hp1 HG01358.hp1 others(20): Show HG00558.hp2 HG01175.hp1 HG01358.hp1 HG02615.hp1 HG02698.hp2 HG03453.hp2 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03831.hp2 NA18941.hp1 NA18953.hp1 NA18964.hp1 NA18977.hp2 NA18983.hp1 NA18986.hp1 NA18988.hp1 NA18997.hp1 NA19004.hp1 NA19060.hp2 NA19082.hp2 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0034 others(20): Show a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0080 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0191 a0001c0001t0001g0264 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0306 a0001c0001t0001g0330 a0001c0001t0001g0338 a0001c0001t0002g0053 a0001c0001t0002g0096 a0001c0001t0002g0314	23	342	0.0673	21	c.238 others(40): Show c.238+10602_238+10603insTGTGTGTGTGTGTGAGACTGG		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	4/9						chr4	TogoVar
ELF5_chr11_34473791_34518794	34484481	A A	ATACTATC others(14): Show ATACTATCCTATACTATCCTAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03516.hp2 HG03225.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0270 a0001c0001t0005g0271 a0001c0001t0005g0270 a0001c0001t0005g0271	2	436	0.0046	21	c.407 others(38): Show c.407-1983_407-1982insATAGGATAGTATAGGATAGTA		ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6						chr11	TogoVar
ELF5_chr11_34473791_34518794	34484481	A A	ATACTATC others(14): Show ATACTATCCTATCCTATCCTAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01069.hp2 HG01255.hp1 others(11): Show HG00099.hp2 HG01069.hp2 HG01255.hp1 HG01433.hp1 HG01516.hp2 HG02015.hp2 HG02080.hp2 HG02109.hp1 HG02559.hp2 NA18948.hp1 NA18972.hp1 NA18981.hp2 NA19003.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0083 others(9): Show a0001c0001t0002g0024 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0110 a0001c0001t0002g0145 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0218 a0001c0001t0002g0264 a0001c0001t0002g0304 a0001c0001t0002g0308	14	436	0.0321	21	c.407 others(38): Show c.407-1983_407-1982insATAGGATAGGATAGGATAGTA		ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6						chr11	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG03471.hp2 HG01496.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0034 a0001c0003t0005g0035 a0001c0003t0005g0034 a0001c0003t0005g0035	2	314	0.0064	21	c.482 others(36): Show c.482-515_482-514insAAAAAAAAATATATATATATA		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11						chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02257.hp1 HG02965.hp1 HG02145.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0205 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0001g0205 a0001c0001t0004g0150 a0001c0001t0004g0152	3	244	0.0123	21	c.870 others(38): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTT		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11						chr19	TogoVar
ELMO1_chr7_36847906_37453864	36849025	C C	CTCTTTTT others(14): Show CTCTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	92	0.0109	21	c.65 others(32): Show c.6525_*6526insAAAAAAAAAAAAAAAAAAAGA		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding					3880		chr7	TogoVar
ELMO1_chr7_36847906_37453864	36899684	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01358.hp1 HG03492.hp2 HG01192.hp1 HG01358.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0002 a0001c0002t0006 a0001c0001t0009 a0001c0002t0002 a0001c0002t0006	a0001c0001t0009g0055 a0001c0002t0002g0087 a0001c0002t0006g0021 a0001c0001t0009g0055 a0001c0002t0002g0087 a0001c0002t0006g0021	3	92	0.0326	21	c.143 others(40): Show c.1438-4668_1438-4667insAAAAAAAAAAAAAAAAAAAAA		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21						chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGGT others(14): Show GGGCGGGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02602.hp1 NA18985.hp2 HG02257.hp1 HG02602.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0003g0052 a0001c0001t0001g0081 a0001c0001t0001g0122 a0001c0001t0003g0052	3	312	0.0096	21	c.-47 others(32): Show c.-4772_-4771insACACACACACACACACCCGCC		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding					4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGCGG others(14): Show GGGGGCGGGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp2 NA18992.hp1 HG01993.hp2 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0217 a0001c0001t0004g0233 a0001c0001t0004g0217 a0001c0001t0004g0233	2	312	0.0064	21	c.-47 others(32): Show c.-4772_-4771insACACACACACACACCCGCCCC		ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding					4579		chr20	TogoVar
ELMOD3_chr2_85349769_85396748	85364826	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0056 a0005c0005t0001g0056	1	386	0.0026	21	c.199 others(38): Show c.199+1660_199+1661insATATATATATATATATATATA		ELMOD3	ENSG00000115459.18	transcript	ENST00000409013.8	protein_coding	6/13						chr2	TogoVar
ELOVL2_chr6_10975759_11049305	11043471	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01891.hp1 HG02486.hp1 others(12): Show HG01361.hp2 HG01891.hp1 HG02486.hp1 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03540.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012	a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0005g0213 others(10): Show a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0005g0213 a0001c0001t0008g0214 a0001c0001t0008g0215 a0001c0001t0010g0004 a0001c0001t0010g0029 a0001c0001t0012g0302 a0001c0001t0012g0303 a0001c0001t0012g0304 a0001c0001t0012g0305 a0001c0001t0012g0306 a0001c0001t0012g0307	15	380	0.0395	21	c.3+7 others(32): Show c.3+756_3+757insTGTGTGTGTGTGTGTGTGTGT		ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7						chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53302357	G G	GCAAATCA others(14): Show GCAAATCAGTCCCCCTCCACCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	320	0.0031	21	c.-8- others(36): Show c.-8-6671_-8-6651dupAGGTGGAGGGGGACTGATTTG		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084134	A A	ATATATGA others(14): Show ATATATGATATATAACATATAT	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0235 a0001c0001t0008g0235	1	338	0.0030	21	c.221 others(40): Show c.221+21362_221+21363insATATATGTTATATATCATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084238	T T	TATAACTT others(14): Show TATAACTTATATGATATATAAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0171 a0001c0001t0007g0052 a0001c0001t0007g0171	2	338	0.0059	21	c.221 others(40): Show c.221+21258_221+21259insGTTATATATCATATAAGTTAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084239	A A	ATAACATG others(14): Show ATAACATGATATATATAACATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01934.hp1 HG00735.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0035 a0001c0001t0008 a0001c0001t0035	a0001c0001t0008g0082 a0001c0001t0035g0329 a0001c0001t0008g0082 a0001c0001t0035g0329	2	338	0.0059	21	c.221 others(40): Show c.221+21257_221+21258insCATGTTATATATATCATGTTA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0179 a0001c0001t0038g0179	1	338	0.0030	21	c.90- others(38): Show c.90-12276_90-12275insAATTTTTTTTTTTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	338	0.0030	21	c.90- others(38): Show c.90-12276_90-12275insATATATATTTTTTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAT others(14): Show AAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03491.hp1 HG04199.hp2 HG01261.hp1 HG03491.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0079 a0001c0001t0001 a0001c0001t0004 a0001c0001t0079	a0001c0001t0001g0195 a0001c0001t0004g0145 a0001c0001t0079g0289 a0001c0001t0001g0195 a0001c0001t0004g0145 a0001c0001t0079g0289	3	338	0.0089	21	c.90- others(38): Show c.90-12276_90-12275insATATATATATATATATTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 NA19058.hp2 NA20300.hp1 HG00099.hp2 NA19058.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0005g0215 a0001c0001t0001g0095 a0001c0001t0001g0128 a0001c0001t0005g0215	3	338	0.0089	21	c.90- others(38): Show c.90-12276_90-12275insATATATATATATATATATTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAATATAT others(14): Show AAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0323 a0001c0001t0005g0323	1	338	0.0030	21	c.90- others(38): Show c.90-12276_90-12275insATATATATATATATATATATT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0327	1	338	0.0030	21	c.90- others(38): Show c.90-12276_90-12275insATATATATATATATATATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG03239.hp1 NA18977.hp1 NA18990.hp2 others(1): Show HG03239.hp1 NA18977.hp1 NA18990.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0024	a0001c0001t0001g0089 a0001c0001t0002g0244 a0001c0001t0008g0235 others(1): Show a0001c0001t0001g0089 a0001c0001t0002g0244 a0001c0001t0008g0235 a0001c0001t0024g0245	4	338	0.0118	21	c.89+ others(38): Show c.89+39589_89+39590insAAAAATATATATATATATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELP4_chr11_31504767_31795324	31533368	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0020	1	270	0.0037	21	c.260 others(38): Show c.260-6287_260-6267dupTTTTTTTTTTTTTTTTTTTTT		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48029837	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0002 a0008c0009t0002	a0008c0009t0002g0164 a0008c0009t0002g0164	1	388	0.0026	21	c.48 others(32): Show c.4893_*4894insGAGAGAGAGAGAGAGAGAGAG		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					4684		chr19	TogoVar
EMC10_chr19_50471507_50495871	50476380	C C	CGGCCCCA others(14): Show CGGCCCCATCCTGCTGACGTCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19002.hp2 NA18973.hp2 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0164 a0001c0002t0166 a0001c0002t0164 a0001c0002t0166	a0001c0002t0164g0005 a0001c0002t0166g0005 a0001c0002t0164g0005 a0001c0002t0166g0005	2	352	0.0057	21	c.-16 others(30): Show c.-165_-164insGGCCCCATCCTGCTGACGTCA		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					126		chr19	TogoVar
EMC7_chr15_34079017_34106862	34093807	A A	ACACACAC others(14): Show ACACACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	410	0.0024	21	c.356 others(38): Show c.356+2087_356+2088insATATATATATGTGTGTGTGTG		EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4						chr15	TogoVar
EME2_chr16_1767810_1786702	1771127	T T	TTCACGCA others(14): Show TTCACGCAGCTCGGCGTAGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0002 a0001c0001t0051g0002	1	430	0.0023	21	c.-21 others(32): Show c.-2101_-2100insTCACGCAGCTCGGCGTAGTGC		EME2	ENSG00000197774.14	transcript	ENST00000568449.7	protein_coding					1682		chr16	TogoVar
EMILIN3_chr20_41354962_41371818	41361519	G G	GCTGAAGT others(14): Show GCTGAAGTTTCTGGGCTGTGTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp2 HG03041.hp1 HG02572.hp1 HG02572.hp2 HG03041.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0020 a0006c0009t0001g0020	3	430	0.0070	21	c.202 others(30): Show c.2029_2049dupGACACAGCCCAGAAACTTCAG	p.Gln others(34): Show p.Gln683_His684insAspThrAlaGlnLysLeuGln	EMILIN3	ENSG00000183798.5	transcript	ENST00000332312.4	protein_coding	4/4	2233/3791	2049/2301	683/766			chr20	TogoVar
EML1_chr14_99788413_99947060	99838918	C C	CTGCGCGC others(14): Show CTGCGCGCGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0220 a0001c0003t0001g0220	1	288	0.0035	21	c.68- others(38): Show c.68-11935_68-11934insTGCGCGCGTGTGTGTGTGTGT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21						chr14	TogoVar
EML1_chr14_99788413_99947060	99927979	T T	TGGTGGTG others(14): Show TGGTGGTGGTGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0224 a0002c0001t0002g0224	1	288	0.0035	21	c.190 others(40): Show c.1909+7112_1909+7113insGTGGTGGTGGAGGTGGTGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928107	G G	GTGGTGAT others(14): Show GTGGTGATGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0170 a0003c0002t0001g0170	1	288	0.0035	21	c.190 others(40): Show c.1909+7235_1909+7236insATGGTGGTGGTGGTGATGGTG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99928119	G G	GTGATGGT others(14): Show GTGATGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA20129.hp2 HG02818.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0167 a0001c0003t0001g0168	2	288	0.0069	21	c.190 others(40): Show c.1909+7244_1909+7245insATGGTGGTGGTGGTGGTGATG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0336 a0001c0001t0021g0336	1	358	0.0028	21	c.26- others(34): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0024 a0002c0002t0009g0024	1	358	0.0028	21	c.196 others(40): Show c.1967+1939_1967+1959dupTTTTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88759685	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0308 a0001c0003t0004g0308	1	332	0.0030	21	c.198 others(38): Show c.198-5015_198-5014insTTTTTTTTTTTTTTTTTTTTT		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding	1/43						chr14	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA20300.hp1 NA19085.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0034 a0001c0001 a0001c0034	a0001c0001t0042 a0001c0034t0047 a0001c0001t0042 a0001c0034t0047	a0001c0001t0042g0198 a0001c0034t0047g0032 a0001c0001t0042g0198 a0001c0034t0047g0032	2	264	0.0076	21	c.198 others(40): Show c.198-16063_198-16043dupAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797168	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG04115.hp2 NA20805.hp1 HG00140.hp1 HG04115.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0004 a0001c0006t0018 a0001c0006t0051 a0001c0001t0004 a0001c0006t0018 a0001c0006t0051	a0001c0001t0004g0242 a0001c0006t0018g0040 a0001c0006t0051g0038 a0001c0001t0004g0242 a0001c0006t0018g0040 a0001c0006t0051g0038	3	264	0.0114	21	c.198 others(40): Show c.198-16044_198-16043insCAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01496.hp1 HG02486.hp1 others(10): Show HG01257.hp1 HG01496.hp1 HG02486.hp1 HG02698.hp1 HG03540.hp1 NA18993.hp2 NA18995.hp1 NA19056.hp2 NA19064.hp1 NA19085.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0015 a0001c0034	a0001c0001t0005 a0001c0001t0008 a0001c0001t0036 others(8): Show a0001c0001t0005 a0001c0001t0008 a0001c0001t0036 a0001c0001t0042 a0001c0002t0005 a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0009t0008 a0001c0015t0043 a0001c0034t0047	a0001c0001t0005g0070 a0001c0001t0008g0112 a0001c0001t0036g0174 others(10): Show a0001c0001t0005g0070 a0001c0001t0008g0112 a0001c0001t0036g0174 a0001c0001t0042g0198 a0001c0002t0005g0230 a0001c0003t0002g0062 a0001c0003t0002g0240 a0001c0003t0009g0144 a0001c0003t0015g0109 a0001c0009t0008g0106 a0001c0009t0008g0133 a0001c0015t0043g0018 a0001c0034t0047g0032	13	264	0.0492	21	c.243 others(40): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54945108	C C	CTCCCTCT others(14): Show CTCCCTCTCTCCTCCCATCCCA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	264	0.0038	21	c.400 others(40): Show c.4005-3772_4005-3752dupCCCTCTCTCCTCCCATCCCAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	28/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(14): Show GTTGTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0111 a0001c0003t0009g0111	1	264	0.0038	21	c.496 others(38): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01167.hp1 HG01346.hp2 others(6): Show HG00741.hp2 HG01167.hp1 HG01346.hp2 HG02004.hp1 HG02083.hp1 HG03579.hp2 NA18951.hp1 NA18956.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 others(5): Show a0001c0001t0010 a0001c0001t0014 a0001c0001t0026 a0001c0001t0123 a0001c0002t0001 a0001c0002t0002 a0001c0002t0012 a0001c0002t0039	a0001c0001t0010g0023 a0001c0001t0014g0091 a0001c0001t0026g0092 others(6): Show a0001c0001t0010g0023 a0001c0001t0014g0091 a0001c0001t0026g0092 a0001c0001t0123g0090 a0001c0002t0001g0089 a0001c0002t0002g0087 a0001c0002t0012g0129 a0001c0002t0039g0086 a0001c0002t0039g0088	9	402	0.0224	21	c.-61 others(38): Show c.-61+5291_-61+5311dupAAAAAAAAAAAAAAAAAAAAA		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
ENAM_chr4_70623744_70651824	70648902	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG03139.hp2 HG06807.hp2 HG02976.hp1 HG03139.hp2 HG06807.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0025 a0004c0004t0005g0116 a0004c0004t0005g0025 a0004c0004t0005g0116	3	410	0.0073	21	c.40 others(32): Show c.4047_*4048insTTTTTTTTTTTTTTTTTTTTT		ENAM	ENSG00000132464.13	transcript	ENST00000396073.4	protein_coding					2079		chr4	TogoVar
ENOSF1_chr18_665318_717630	667456	A A	ATGGAGAT others(14): Show ATGGAGATGGTGATGGTGATGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0383 a0003c0004t0003g0383	1	418	0.0024	21	c.68 others(32): Show c.6848_*6849insCCATCACCATCACCATCTCCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2861		chr18	TogoVar
ENOSF1_chr18_665318_717630	699478	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0027 a0009c0014t0027	a0009c0014t0027g0156 a0009c0014t0027g0156	1	418	0.0024	21	c.194 others(38): Show c.194-2144_194-2124dupATTATTATTATTATTATTATT		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	2/15						chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	188	0.0053	21	c.161 others(42): Show c.1612-11146_1612-11145insAAAAAAAAAAAAATATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATTT others(14): Show ATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 HG02083.hp1 HG02523.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0029 a0001c0002t0001g0079 a0001c0002t0001g0029 a0001c0002t0001g0079	2	188	0.0106	21	c.161 others(42): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAAAATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43417193	A A	AGGGAGAC others(14): Show AGGGAGACGGGAGACGGGAGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0120 a0001c0005t0003g0120	1	188	0.0053	21	c.-74 others(38): Show c.-74-4226_-74-4206dupGTCTCCCGTCTCCCGTCTCCC		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar

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