Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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Samplehapid

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No_samplehapid

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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
ELMO1_chr7_36847906_37453864	36889388	TGAAGAAC others(13): Show TGAAGAACCCTGCACTGAGTG	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 NA18906.hp2 HG02895.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0007 a0001c0001t0001 a0001c0002t0007	a0001c0001t0001g0074 a0001c0002t0007g0064 a0001c0001t0001g0074 a0001c0002t0007g0064	2	92	0.0217	-20	c.160 others(39): Show c.1602-1736_1602-1717delCACTCAGTGCAGGGTTCTTC	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	17/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	36953839	TTGTGTGT others(13): Show TTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02055.hp2 HG01192.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001	a0001c0001t0004g0057 a0001c0001t0005g0073 a0001c0002t0001g0070 a0001c0001t0004g0057 a0001c0001t0005g0073 a0001c0002t0001g0070	3	92	0.0326	-20	c.143 others(41): Show c.1438-58842_1438-58823delCACACACACACACACACACA	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	16/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37104010	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02896.hp2 HG02922.hp2 others(2): Show HG02109.hp1 HG02896.hp2 HG02922.hp2 NA18906.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0009	a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0005g0075 others(2): Show a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0005g0075 a0001c0001t0016g0060 a0001c0002t0009g0069	5	92	0.0544	-20	c.119 others(39): Show c.1192-7303_1192-7284delTTTTTTTTTTTTTTTTTTTT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	14/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37188435	CACACACA others(13): Show CACACACACACACACACGCAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02886.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0074 a0001c0003t0002g0091 a0001c0001t0001g0074 a0001c0003t0002g0091	2	92	0.0217	-20	c.108 others(41): Show c.1086+22931_1086+22950delTTGCGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37267038	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0044 a0001c0001t0003g0044	1	92	0.0109	-20	c.243 others(37): Show c.243+4774_243+4793delGTGTGTGTGTGTGTGTGTGT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	5/21			chr7	TogoVar
ELMO1_chr7_36847906_37453864	37391006	CCCTTCCT others(13): Show CCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0064 a0001c0002t0007g0064	1	92	0.0109	-20	c.-73 others(39): Show c.-73-48263_-73-48244delAAGGAAGGAAGGAAGGAAGG	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	1/21			chr7	TogoVar
ELMOD1_chr11_107586147_107671779	107590332	TTCTCTCT others(13): Show TTCTCTCTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0091 a0001c0002t0005g0091	1	342	0.0029	-20	c.-11 others(31): Show c.-1162_-1143delTCTCTCTCTCTCTCTCTCTC	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding		814		chr11	TogoVar
ELMOD1_chr11_107586147_107671779	107665962	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0318 a0001c0002t0019g0318	1	342	0.0029	-20	c.80 others(29): Show c.801_*820delTAAATAAATAAATAAATAAA	ELMOD1	ENSG00000110675.13	transcript	ENST00000265840.12	protein_coding	12/12	801	INFO_REALIGN_3_PRIME	chr11	TogoVar
ELOA_chr1_23738471_23767059	23758247	ATTTATTT others(13): Show ATTTATTTATTTATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03098.hp1 HG02145.hp1 HG03098.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0004 a0003c0004t0003 a0003c0004t0004	a0003c0004t0003g0254 a0003c0004t0004g0062 a0003c0004t0003g0254 a0003c0004t0004g0062	2	400	0.0050	-20	c.225 others(39): Show c.2257+1126_2257+1145delATTTATTTATTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23758251	ATTTATTT others(13): Show ATTTATTTATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0155 a0002c0003t0001g0155	1	400	0.0025	-20	c.225 others(39): Show c.2257+1130_2257+1149delATTTATTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELOA_chr1_23738471_23767059	23765206	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02451.hp1 HG02630.hp1 others(7): Show HG01106.hp1 HG02451.hp1 HG02630.hp1 HG02647.hp1 HG03130.hp2 HG03225.hp2 HG03579.hp1 NA18906.hp1 NA19240.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0005c0008 a0001c0001 a0001c0005 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0005c0008t0001	a0001c0001t0001g0178 a0001c0001t0002g0023 a0001c0005t0001g0004 others(4): Show a0001c0001t0001g0178 a0001c0001t0002g0023 a0001c0005t0001g0004 a0001c0005t0001g0055 a0001c0005t0001g0056 a0001c0005t0001g0067 a0005c0008t0001g0004	10	400	0.0250	-20	c.56 others(31): Show c.5634_*5653delTTTTTTTTTTTTTTTTTTTT	ELOA	ENSG00000011007.13	transcript	ENST00000613537.5	protein_coding		3148		chr1	TogoVar
ELOF1_chr19_11548046_11564230	11553582	TACACACA others(13): Show TACACACACACACACACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01081.hp2 HG01433.hp1 HG01884.hp1 others(18): Show HG01081.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG02109.hp2 HG02145.hp2 HG02559.hp1 HG02647.hp1 HG02647.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG03017.hp1 HG03130.hp1 HG03453.hp1 HG03688.hp1 HG04184.hp1 HG04199.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0044 a0001c0001t0005 a0001c0001t0044	a0001c0001t0005g0006 a0001c0001t0005g0045 a0001c0001t0005g0046 others(3): Show a0001c0001t0005g0006 a0001c0001t0005g0045 a0001c0001t0005g0046 a0001c0001t0005g0049 a0001c0001t0005g0122 a0001c0001t0044g0119	21	412	0.0510	-20	c.14 others(29): Show c.144_*163delGTGTGTGTGTGTGTGTGTGT	ELOF1	ENSG00000130165.11	transcript	ENST00000252445.8	protein_coding	4/4	144		chr19	TogoVar
ELOVL5_chr6_53262404_53353950	53302074	TGGGCCTG others(13): Show TGGGCCTGAATTCGAGAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	320	0.0031	-20	c.-8- others(35): Show c.-8-6387_-8-6368delTTTCTCTCGAATTCAGGCCC	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA18960.hp1 HG02886.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0137 a0001c0001t0006g0304 a0001c0001t0001g0137 a0001c0001t0006g0304	2	320	0.0063	-20	c.-8- others(37): Show c.-8-23583_-8-23564delTTTTTTTTTTTTTTTTTTTT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL5_chr6_53262404_53353950	53334497	AAATCATT others(13): Show AAATCATTCAGGGCTAAACAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	320	0.0031	-20	c.-9+ others(37): Show c.-9+14300_-9+14319delGTGTTTAGCCCTGAATGATT	ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084551	CACACACA others(13): Show CACACACACACAGATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19007.hp1 NA19074.hp1 HG03491.hp1 NA19007.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0040 a0001c0001t0004 a0001c0001t0006 a0001c0001t0040	a0001c0001t0004g0145 a0001c0001t0006g0231 a0001c0001t0040g0230 a0001c0001t0004g0145 a0001c0001t0006g0231 a0001c0001t0040g0230	3	338	0.0089	-20	c.221 others(39): Show c.221+20926_221+20945delATATATATCTGTGTGTGTGT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110094425	ATATATAT others(13): Show ATATATATATATATATATAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG06807.hp1 others(2): Show HG02055.hp2 HG02257.hp2 HG06807.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0026 a0001c0001t0027 others(1): Show a0001c0001t0009 a0001c0001t0026 a0001c0001t0027 a0001c0001t0038	a0001c0001t0009g0046 a0001c0001t0026g0216 a0001c0001t0026g0330 others(2): Show a0001c0001t0009g0046 a0001c0001t0026g0216 a0001c0001t0026g0330 a0001c0001t0027g0022 a0001c0001t0038g0179	5	338	0.0148	-20	c.221 others(39): Show c.221+11052_221+11071delATTATATATATATATATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110167653	TTATGTAT others(13): Show TTATGTATGTATGTATGTATG	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG02630.hp2 others(1): Show HG01891.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0047 others(1): Show a0001c0001t0002 a0001c0001t0043 a0001c0001t0047 a0001c0001t0075	a0001c0001t0002g0332 a0001c0001t0043g0038 a0001c0001t0047g0333 others(1): Show a0001c0001t0002g0332 a0001c0001t0043g0038 a0001c0001t0047g0333 a0001c0001t0075g0074	4	338	0.0118	-20	c.89+ others(37): Show c.89+30574_89+30593delCATACATACATACATACATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60802099	TATATATA others(13): Show TATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0029 a0001c0001t0016g0029	1	258	0.0039	-20	c.-85 others(37): Show c.-85-2889_-85-2870delGTATATATATATATATATAT	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819020	AGAGGGGA others(13): Show AGAGGGGAGGGGAGGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0245 a0001c0001t0009g0245	1	258	0.0039	-20	c.-85 others(39): Show c.-85-19810_-85-19791delCCCTCCCCTCCCCTCCCCTC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELOVL7_chr5_60746791_60849269	60819089	GGGAGGGG others(13): Show GGGAGGGGAGGGGAGAGGAGA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0134 a0001c0001t0008g0134	1	258	0.0039	-20	c.-85 others(39): Show c.-85-19879_-85-19860delTCTCCTCTCCCCTCCCCTCC	ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8			chr5	TogoVar
ELP3_chr8_28088139_28196153	28119572	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01081.hp1 HG03704.hp1 others(1): Show HG01069.hp1 HG01081.hp1 HG03704.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0233 a0001c0001t0002g0055 a0001c0001t0002g0086 others(1): Show a0001c0001t0001g0233 a0001c0001t0002g0055 a0001c0001t0002g0086 a0001c0001t0002g0137	4	398	0.0101	-20	c.617 others(37): Show c.617+6437_617+6456delATATATATATATATATATAT	ELP3	ENSG00000134014.18	transcript	ENST00000256398.13	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ELP4_chr11_31504767_31795324	31599510	CACACACA others(13): Show CACACACACACACAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18983.hp1 HG03195.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0098 a0001c0001t0008g0092 a0001c0001t0001g0098 a0001c0001t0008g0092	2	270	0.0074	-20	c.514 others(37): Show c.514-4256_514-4237delCACACACACACAAAAAAAAA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(13): Show CCACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(116): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01258.hp1 HG01261.hp2 HG01361.hp2 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01993.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18946.hp1 NA18947.hp2 NA18951.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18978.hp1 NA18978.hp2 NA18983.hp1 NA18984.hp1 NA18987.hp1 NA18988.hp2 NA18989.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19004.hp1 NA19030.hp2 NA19043.hp1 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19066.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19082.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0007 a0001c0001 a0002c0003 a0003c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(34): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0071 a0001c0001t0072 a0001c0001t0077 a0001c0001t0078 a0002c0003t0001 a0002c0003t0082 a0003c0007t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 others(116): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0025 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0098 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0243 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0263 a0001c0001t0003g0103 a0001c0001t0003g0181 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0186 a0001c0001t0003g0190 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0200 a0001c0001t0003g0213 a0001c0001t0003g0220 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0051 a0001c0001t0004g0071 a0001c0001t0004g0075 a0001c0001t0004g0091 a0001c0001t0004g0133 a0001c0001t0004g0257 a0001c0001t0005g0012 a0001c0001t0005g0021 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0067 a0001c0001t0005g0131 a0001c0001t0005g0191 a0001c0001t0005g0203 a0001c0001t0007g0014 a0001c0001t0007g0045 a0001c0001t0007g0054 a0001c0001t0007g0081 a0001c0001t0007g0089 a0001c0001t0007g0158 a0001c0001t0008g0092 a0001c0001t0009g0180 a0001c0001t0009g0198 a0001c0001t0012g0035 a0001c0001t0012g0038 a0001c0001t0012g0136 a0001c0001t0017g0007 a0001c0001t0017g0266 a0001c0001t0017g0268 a0001c0001t0018g0013 a0001c0001t0018g0031 a0001c0001t0019g0084 a0001c0001t0019g0233 a0001c0001t0020g0228 a0001c0001t0028g0201 a0001c0001t0028g0204 a0001c0001t0029g0164 a0001c0001t0029g0165 a0001c0001t0034g0238 a0001c0001t0036g0090 a0001c0001t0037g0147 a0001c0001t0038g0053 a0001c0001t0039g0212 a0001c0001t0050g0235 a0001c0001t0052g0267 a0001c0001t0054g0140 a0001c0001t0055g0083 a0001c0001t0057g0087 a0001c0001t0059g0182 a0001c0001t0060g0202 a0001c0001t0065g0030 a0001c0001t0066g0141 a0001c0001t0067g0161 a0001c0001t0068g0039 a0001c0001t0071g0024 a0001c0001t0072g0159 a0001c0001t0077g0008 a0001c0001t0078g0099 a0002c0003t0001g0096 a0002c0003t0082g0207 a0003c0007t0001g0225	119	270	0.4407	-20	c.10 others(33): Show c.10897_*10916delCACACACACACACACACACA	ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding		4097		chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(13): Show CTTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG00609.hp2 others(49): Show HG00099.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp1 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01261.hp2 HG01516.hp1 HG01891.hp2 HG02040.hp2 HG02080.hp2 HG02145.hp2 HG02622.hp2 HG02723.hp2 HG02735.hp2 HG02922.hp1 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03491.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03942.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18968.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp1 NA19000.hp1 NA19089.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0011 a0012 a0014 a0015	a0001c0001 a0002c0002 a0003c0003 others(9): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0006c0014 a0007c0008 a0008c0009 a0011c0010 a0012c0015 a0014c0017 a0015c0016	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(14): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0004c0004t0001 a0006c0006t0001 a0006c0006t0002 a0006c0014t0002 a0007c0008t0001 a0008c0009t0001 a0008c0009t0002 a0011c0010t0002 a0012c0015t0002 a0014c0017t0004 a0015c0016t0002	a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0078 others(49): Show a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0274 a0001c0001t0001g0278 a0001c0001t0001g0303 a0001c0001t0001g0360 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0221 a0001c0001t0002g0223 a0001c0001t0002g0227 a0002c0002t0001g0056 a0002c0002t0001g0083 a0002c0002t0001g0313 a0002c0002t0001g0340 a0002c0002t0001g0362 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0205 a0002c0002t0002g0209 a0002c0002t0002g0210 a0002c0002t0002g0211 a0002c0002t0002g0212 a0002c0002t0002g0242 a0003c0003t0001g0080 a0003c0003t0001g0350 a0003c0003t0002g0204 a0004c0004t0001g0306 a0006c0006t0001g0341 a0006c0006t0002g0137 a0006c0014t0002g0136 a0007c0008t0001g0329 a0008c0009t0001g0354 a0008c0009t0002g0164 a0011c0010t0002g0144 a0012c0015t0002g0235 a0014c0017t0004g0124 a0015c0016t0002g0138	52	388	0.1340	-20	c.-17 others(37): Show c.-17-4710_-17-4691delATTCTATTCTATTCTATTCT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(13): Show TTTTCTTTCCTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00597.hp2 others(54): Show HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00735.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG02027.hp2 HG02083.hp1 HG02132.hp1 HG02559.hp1 HG02615.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp2 HG03130.hp1 HG03471.hp1 HG03490.hp2 HG03540.hp1 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp2 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp1 NA18979.hp2 NA18998.hp2 NA19009.hp2 NA19056.hp2 NA19068.hp1 NA19084.hp2 NA20805.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0002c0002 a0004c0004 others(2): Show a0001c0001 a0002c0002 a0004c0004 a0005c0005 a0007c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0002c0002t0001 a0004c0004t0001 a0004c0004t0002 a0005c0005t0004 a0007c0008t0001	a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 others(54): Show a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0183 a0001c0001t0001g0265 a0001c0001t0001g0269 a0001c0001t0001g0273 a0001c0001t0001g0298 a0001c0001t0001g0314 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0331 a0001c0001t0001g0359 a0001c0001t0001g0361 a0001c0001t0001g0364 a0001c0001t0002g0126 a0001c0001t0002g0143 a0001c0001t0002g0157 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0176 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0243 a0001c0001t0002g0247 a0001c0001t0002g0250 a0001c0001t0006g0259 a0002c0002t0001g0046 a0004c0004t0001g0077 a0004c0004t0001g0306 a0004c0004t0001g0371 a0004c0004t0002g0034 a0004c0004t0002g0125 a0004c0004t0002g0130 a0004c0004t0002g0181 a0005c0005t0004g0123 a0007c0008t0001g0329	57	388	0.1469	-20	c.355 others(35): Show c.355+426_355+445delCTTCTTTCTTTCTTTCTTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016465	CTTCTTTC others(13): Show CTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0074	1	388	0.0026	-20	c.355 others(35): Show c.355+472_355+491delTCTTTCTTTCTTTCTTTCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016511	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03239.hp2 HG03688.hp1 others(2): Show HG02735.hp2 HG03239.hp2 HG03688.hp1 HG04115.hp1 HG04115.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(2): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0008c0009t0001 a0008c0009t0002	a0001c0001t0001g0042 a0002c0002t0001g0075 a0002c0002t0002g0196 others(2): Show a0001c0001t0001g0042 a0002c0002t0001g0075 a0002c0002t0002g0196 a0008c0009t0001g0354 a0008c0009t0002g0153	5	388	0.0129	-20	c.355 others(35): Show c.355+476_355+495delTCTTTCTTTCTTTCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(13): Show TCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02895.hp2 HG02922.hp1 others(4): Show HG02040.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp2 HG03654.hp2 NA19089.hp1 NA19089.hp2	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0017 a0001c0001 a0002c0002 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0014c0017t0003	a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0303 others(4): Show a0001c0001t0001g0033 a0001c0001t0001g0116 a0001c0001t0001g0303 a0001c0001t0002g0207 a0002c0002t0002g0141 a0002c0002t0002g0205 a0014c0017t0003g0026	7	388	0.0180	-20	c.355 others(35): Show c.355+480_355+499delTCTTTCTTTCTTCCTTCCTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016550	TCCTTCCT others(13): Show TCCTTCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01515.hp1 others(4): Show HG01167.hp2 HG01169.hp1 HG01515.hp1 NA18942.hp2 NA18969.hp1 NA18973.hp2 NA19083.hp2	a0003 a0011 a0003 a0011	a0003c0003 a0011c0010 a0003c0003 a0011c0010	a0003c0003t0002 a0011c0010t0001 a0003c0003t0002 a0011c0010t0001	a0003c0003t0002g0186 a0003c0003t0002g0216 a0003c0003t0002g0225 others(4): Show a0003c0003t0002g0186 a0003c0003t0002g0216 a0003c0003t0002g0225 a0003c0003t0002g0237 a0003c0003t0002g0240 a0011c0010t0001g0342 a0011c0010t0001g0352	7	388	0.0180	-20	c.355 others(35): Show c.355+517_355+536delCTTCCTTCCTTCCTCCCTTC	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50471776	GTGTGTAT others(13): Show GTGTGTATACGCATACATGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02572.hp1 HG02615.hp2 others(9): Show HG01109.hp1 HG02572.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp2 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03209.hp2 NA21309.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0086 a0001c0002t0089 others(2): Show a0001c0002t0004 a0001c0002t0086 a0001c0002t0089 a0001c0002t0098 a0001c0002t0161	a0001c0002t0004g0006 a0001c0002t0086g0006 a0001c0002t0089g0043 others(2): Show a0001c0002t0004g0006 a0001c0002t0086g0006 a0001c0002t0089g0043 a0001c0002t0098g0006 a0001c0002t0161g0003	12	352	0.0341	-20	c.-47 others(31): Show c.-4768_-4749delTGTGTATACGCATACATGCA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4730		chr19	TogoVar
EMC10_chr19_50471507_50495871	50471818	GTGTGTAT others(13): Show GTGTGTATACGCATACATATC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02559.hp2 others(5): Show HG01891.hp2 HG02055.hp2 HG02559.hp2 HG02896.hp1 HG03225.hp1 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0090 a0001c0002t0091 others(3): Show a0001c0002t0027 a0001c0002t0090 a0001c0002t0091 a0001c0002t0097 a0001c0002t0101 a0001c0002t0117	a0001c0002t0027g0011 a0001c0002t0090g0010 a0001c0002t0091g0010 others(3): Show a0001c0002t0027g0011 a0001c0002t0090g0010 a0001c0002t0091g0010 a0001c0002t0097g0010 a0001c0002t0101g0010 a0001c0002t0117g0030	8	352	0.0227	-20	c.-47 others(31): Show c.-4726_-4707delTGTGTATACGCATACATATC	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4688		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472122	ATATACGT others(13): Show ATATACGTGTGTATATGTATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG02895.hp2 NA19077.hp1 HG00609.hp2 HG02895.hp2 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0132 a0001c0001t0140 a0001c0002t0087 a0001c0001t0132 a0001c0001t0140 a0001c0002t0087	a0001c0001t0132g0002 a0001c0001t0140g0002 a0001c0002t0087g0042 a0001c0001t0132g0002 a0001c0001t0140g0002 a0001c0002t0087g0042	3	352	0.0085	-20	c.-44 others(31): Show c.-4422_-4403delTATACGTGTGTATATGTATG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4384		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0065 a0001c0002t0065	a0001c0002t0065g0004 a0001c0002t0065g0004	1	352	0.0028	-20	c.97 others(31): Show c.9781_*9800delGAGAGAGAGAGAGAGAGAGA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC2_chr8_108438624_108494196	108457321	CGTGTGTG others(13): Show CGTGTGTGTGCGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	2	364	0.0055	-20	c.363 others(37): Show c.363+1401_363+1420delCGTGTGTGTGTGTGTGTGTG	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr8	TogoVar
EMC3_chr3_9957682_9991841	9978145	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02055.hp1 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0039 a0001c0001t0018 a0001c0001t0039	a0001c0001t0018g0124 a0001c0001t0039g0123 a0001c0001t0018g0124 a0001c0001t0039g0123	2	322	0.0062	-20	c.156 others(35): Show c.156-719_156-700delTTTTTTTTTTTTTTTTTTTT	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	1/7			chr3	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(13): Show GCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03453.hp2 HG03927.hp2 others(2): Show HG03209.hp1 HG03453.hp2 HG03927.hp2 HG06807.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0015 a0001c0001t0002 a0001c0001t0011 a0001c0001t0015	a0001c0001t0002g0224 a0001c0001t0011g0109 a0001c0001t0011g0113 others(2): Show a0001c0001t0002g0224 a0001c0001t0011g0109 a0001c0001t0011g0113 a0001c0001t0015g0022 a0001c0001t0015g0115	5	262	0.0191	-20	c.376 others(37): Show c.376+6235_376+6254delAGAGAGAGAGAGAGAGAGAG	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(13): Show CGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01070.hp2 HG01099.hp2 others(53): Show HG00423.hp2 HG01070.hp2 HG01099.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02148.hp1 HG02486.hp1 HG02523.hp2 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG03017.hp1 HG03130.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18943.hp1 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18959.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp2 NA18979.hp2 NA18986.hp1 NA18993.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19030.hp1 NA19063.hp1 NA19067.hp1 NA19077.hp2 NA19084.hp2 NA19087.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0009 a0003c0003t0003 a0004c0004t0003	a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0143 others(51): Show a0001c0002t0001g0116 a0001c0002t0001g0124 a0001c0002t0001g0143 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0340 a0001c0002t0002g0032 a0001c0002t0002g0034 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0242 a0001c0002t0002g0252 a0001c0002t0002g0258 a0001c0002t0003g0259 a0001c0002t0003g0261 a0001c0002t0003g0343 a0001c0002t0006g0020 a0002c0001t0001g0005 a0002c0001t0001g0029 a0002c0001t0001g0041 a0002c0001t0001g0050 a0002c0001t0001g0133 a0002c0001t0001g0225 a0002c0001t0001g0235 a0002c0001t0001g0244 a0002c0001t0001g0254 a0002c0001t0001g0257 a0002c0001t0001g0264 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0276 a0002c0001t0001g0293 a0002c0001t0001g0341 a0002c0001t0001g0342 a0002c0001t0002g0011 a0002c0001t0002g0246 a0002c0001t0002g0253 a0002c0001t0003g0002 a0002c0001t0003g0128 a0002c0001t0003g0129 a0002c0001t0003g0130 a0002c0001t0003g0131 a0002c0001t0009g0243 a0003c0003t0003g0260 a0004c0004t0003g0132	56	348	0.1609	-20	c.320 others(37): Show c.320-4028_320-4009delGTGTGTGTGTGTGTGTGTGT	EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(13): Show CATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG01952.hp2 HG00140.hp1 HG00323.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0035 a0001c0001t0001 a0001c0001t0035	a0001c0001t0001g0182 a0001c0001t0001g0233 a0001c0001t0035g0232 a0001c0001t0001g0182 a0001c0001t0001g0233 a0001c0001t0035g0232	3	452	0.0066	-20	c.257 others(39): Show c.257+10620_257+10639delATATATATATATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2858563	ATATATAT others(13): Show ATATATATGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0166 a0001c0001t0005g0166	1	452	0.0022	-20	c.257 others(39): Show c.257+10640_257+10659delGTGTGTGTGTGTGTATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99796186	CAGAGAGA others(13): Show CAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00423.hp1 HG00558.hp2 others(79): Show HG00323.hp2 HG00423.hp1 HG00558.hp2 HG00621.hp2 HG01081.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01433.hp1 HG01928.hp1 HG01943.hp1 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG03130.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04115.hp1 HG04204.hp2 NA18947.hp1 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18969.hp1 NA18969.hp2 NA18977.hp1 NA18977.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19064.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0003 a0001c0004 a0001c0005 others(6): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0002c0001 a0002c0006 a0003c0002 a0003c0010 a0004c0008	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(17): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0003 a0001c0004t0010 a0001c0004t0011 a0001c0005t0005 a0001c0007t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0006t0003 a0003c0002t0001 a0003c0002t0002 a0003c0002t0003 a0003c0002t0006 a0003c0002t0010 a0003c0002t0016 a0003c0010t0006 a0004c0008t0004	a0001c0003t0001g0163 a0001c0003t0001g0167 a0001c0003t0001g0168 others(79): Show a0001c0003t0001g0163 a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0193 a0001c0003t0001g0214 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0225 a0001c0003t0002g0181 a0001c0003t0003g0184 a0001c0004t0003g0180 a0001c0004t0003g0195 a0001c0004t0003g0197 a0001c0004t0003g0199 a0001c0004t0003g0206 a0001c0004t0010g0235 a0001c0004t0011g0156 a0001c0005t0005g0003 a0001c0007t0002g0005 a0002c0001t0001g0216 a0002c0001t0001g0219 a0002c0001t0002g0157 a0002c0001t0002g0160 a0002c0001t0002g0164 a0002c0001t0002g0165 a0002c0001t0002g0173 a0002c0001t0002g0174 a0002c0001t0002g0175 a0002c0001t0002g0176 a0002c0001t0002g0177 a0002c0001t0002g0178 a0002c0001t0002g0179 a0002c0001t0002g0182 a0002c0001t0002g0183 a0002c0001t0002g0196 a0002c0001t0002g0224 a0002c0001t0002g0227 a0002c0001t0003g0188 a0002c0001t0003g0189 a0002c0001t0003g0236 a0002c0006t0003g0229 a0003c0002t0001g0154 a0003c0002t0001g0161 a0003c0002t0001g0166 a0003c0002t0001g0170 a0003c0002t0001g0171 a0003c0002t0001g0172 a0003c0002t0001g0185 a0003c0002t0001g0186 a0003c0002t0001g0187 a0003c0002t0001g0190 a0003c0002t0001g0191 a0003c0002t0001g0192 a0003c0002t0001g0194 a0003c0002t0001g0198 a0003c0002t0001g0201 a0003c0002t0001g0204 a0003c0002t0001g0205 a0003c0002t0001g0207 a0003c0002t0001g0209 a0003c0002t0001g0210 a0003c0002t0001g0213 a0003c0002t0001g0215 a0003c0002t0001g0217 a0003c0002t0001g0218 a0003c0002t0001g0223 a0003c0002t0002g0162 a0003c0002t0002g0203 a0003c0002t0002g0211 a0003c0002t0002g0222 a0003c0002t0002g0231 a0003c0002t0003g0155 a0003c0002t0003g0159 a0003c0002t0003g0169 a0003c0002t0003g0208 a0003c0002t0003g0212 a0003c0002t0003g0230 a0003c0002t0006g0228 a0003c0002t0010g0200 a0003c0002t0016g0202 a0003c0010t0006g0226 a0004c0008t0004g0004	82	288	0.2847	-20	c.67+ others(35): Show c.67+2669_67+2688delGAGAGAGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99827016	TACTAAGT others(13): Show TACTAAGTGCTGAATAAATAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA20805.hp2 HG01074.hp1 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0003 a0001c0004t0003 a0001c0003t0003 a0001c0004t0003	a0001c0003t0003g0279 a0001c0004t0003g0280 a0001c0003t0003g0279 a0001c0004t0003g0280	2	288	0.0069	-20	c.68- others(37): Show c.68-23835_68-23816delCTAAGTGCTGAATAAATACA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML2_chr19_45604400_45644397	45637647	TTTTTTTT others(13): Show TTTTTTTTTCTTTTTCTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(76): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00621.hp2 HG00733.hp2 HG00738.hp1 HG01069.hp1 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01943.hp2 HG01993.hp2 HG02074.hp1 HG02145.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02622.hp1 HG02738.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18972.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18987.hp2 NA18989.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19003.hp2 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19055.hp1 NA19064.hp1 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19078.hp2 NA19083.hp2 NA19088.hp2 NA19091.hp1 NA20805.hp1	a0001 a0004 a0010 others(1): Show a0001 a0004 a0010 a0014	a0001c0001 a0001c0007 a0004c0004 others(2): Show a0001c0001 a0001c0007 a0004c0004 a0010c0023 a0014c0015	a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0007t0001 a0004c0004t0002 a0010c0023t0001 a0014c0015t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(64): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0338 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0003g0062 a0001c0007t0001g0052 a0001c0007t0001g0079 a0001c0007t0001g0080 a0001c0007t0001g0081 a0004c0004t0002g0057 a0010c0023t0001g0037 a0014c0015t0001g0340	79	382	0.2068	-20	c.179 others(35): Show c.179+838_179+857delGAAAAGAAAAAGAAAAAAAA	EML2	ENSG00000125746.18	transcript	ENST00000245925.8	protein_coding	3/18			chr19	TogoVar
EML4_chr2_42164353_42337548	42325596	TTATATTT others(13): Show TTATATTTATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19089.hp2 NA18945.hp1 NA19089.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0027 a0005c0006t0001g0116 a0002c0002t0001g0027 a0005c0006t0001g0116	2	358	0.0056	-20	c.224 others(35): Show c.2242+48_2242+67delTTATATATATATATATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04204.hp2 HG02723.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0004 a0002c0008t0012 a0001c0001t0004 a0002c0008t0012	a0001c0001t0004g0029 a0002c0008t0012g0058 a0001c0001t0004g0029 a0002c0008t0012g0058	2	264	0.0076	-20	c.197 others(39): Show c.197+19686_197+19705delACACACACACACACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(13): Show AGATAGATAGATAGATAAGAT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01074.hp1 HG01361.hp1 others(6): Show HG00642.hp1 HG01074.hp1 HG01361.hp1 HG03491.hp2 HG03710.hp1 NA18945.hp2 NA18954.hp2 NA18993.hp2 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0010 a0001c0003 a0001c0004 a0001c0010	a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 others(3): Show a0001c0003t0002 a0001c0003t0009 a0001c0003t0015 a0001c0003t0035 a0001c0004t0007 a0001c0010t0001	a0001c0003t0002g0062 a0001c0003t0002g0151 a0001c0003t0002g0154 others(6): Show a0001c0003t0002g0062 a0001c0003t0002g0151 a0001c0003t0002g0154 a0001c0003t0002g0157 a0001c0003t0009g0107 a0001c0003t0015g0109 a0001c0003t0035g0173 a0001c0004t0007g0047 a0001c0010t0001g0237	9	264	0.0341	-20	c.341 others(39): Show c.3410-3023_3410-3004delGATAGATAGATAGATAAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54907934	AGATAGAT others(13): Show AGATAGATAGATAAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02080.hp1 NA18969.hp2 others(2): Show HG01069.hp1 HG02080.hp1 NA18969.hp2 NA19088.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0015 a0001c0001 a0001c0002 a0001c0015	a0001c0001t0003 a0001c0002t0004 a0001c0015t0043 a0001c0001t0003 a0001c0002t0004 a0001c0015t0043	a0001c0001t0003g0143 a0001c0002t0004g0061 a0001c0002t0004g0067 others(2): Show a0001c0001t0003g0143 a0001c0002t0004g0061 a0001c0002t0004g0067 a0001c0002t0004g0068 a0001c0015t0043g0018	5	264	0.0189	-20	c.341 others(39): Show c.3410-3019_3410-3000delGATAGATAGATAAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54907938	AGATAGAT others(13): Show AGATAGATAAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01496.hp2 HG02132.hp1 others(8): Show HG00741.hp1 HG01496.hp2 HG02132.hp1 HG02273.hp1 HG02300.hp2 HG02895.hp1 HG03041.hp2 HG03239.hp1 HG04199.hp1 NA18999.hp1 NA19054.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0004 a0001c0007 others(1): Show a0001c0001 a0001c0004 a0001c0007 a0008c0033	a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0004t0001 a0001c0004t0003 a0001c0004t0008 a0001c0007t0006 a0001c0007t0029 a0008c0033t0001	a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0181 others(8): Show a0001c0001t0001g0152 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0007g0180 a0001c0004t0001g0200 a0001c0004t0001g0228 a0001c0004t0003g0117 a0001c0004t0008g0098 a0001c0007t0006g0080 a0001c0007t0029g0103 a0008c0033t0001g0208	11	264	0.0417	-20	c.341 others(39): Show c.3410-3015_3410-2996delGATAGATAAGATAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EML6_chr2_54718662_54977025	54907942	AGATAAGA others(13): Show AGATAAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp2 HG02258.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0011 a0001c0002t0004 a0001c0002t0011	a0001c0002t0004g0028 a0001c0002t0011g0264 a0001c0002t0004g0028 a0001c0002t0011g0264	2	264	0.0076	-20	c.341 others(39): Show c.3410-3011_3410-2992delGATAAGATAGATAGATAGAT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41			chr2	TogoVar
EMP1_chr12_13191726_13224941	13221301	AACTCCAT others(13): Show AACTCCATGCTCTTTTTTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	444	0.0023	-20	c.66 others(31): Show c.6611_*6630delACTCCATGCTCTTTTTTATT	EMP1	ENSG00000134531.10	transcript	ENST00000256951.10	protein_coding		1361		chr12	TogoVar

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