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 haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
EIF2A_chr3_150541787_150591016	150590737	GTGTGTGT others(13): Show GTGTGTGTATATATATATATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02040.hp1 HG02080.hp1 others(6): Show HG00408.hp2 HG02040.hp1 HG02080.hp1 HG02523.hp1 NA18942.hp2 NA18967.hp2 NA19058.hp1 NA19075.hp1 NA19077.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0008 a0002c0002 a0003c0008	a0002c0002t0001 a0003c0008t0001 a0002c0002t0001 a0003c0008t0001	a0002c0002t0001g0001 a0002c0002t0001g0033 a0002c0002t0001g0034 others(5): Show a0002c0002t0001g0001 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0074 a0002c0002t0001g0098 a0002c0002t0001g0104 a0002c0002t0001g0105 a0003c0008t0001g0101	9	394	0.0228	-20	c.68 others(31): Show c.6827_*6846delTGTGTGTATATATATATATA	EIF2A	ENSG00000144895.12	transcript	ENST00000460851.6	protein_coding		4722		chr3	TogoVar
EIF2B1_chr12_123615406_123638686	123617886	CGTTTTCA others(13): Show CGTTTTCAGATAGAATGCCTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG00738.hp2 others(70): Show HG00733.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01346.hp2 HG01516.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18977.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 others(23): Show a0001c0001t0003 a0001c0001t0011 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0081	a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0017 others(49): Show a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0017 a0001c0001t0003g0031 a0001c0001t0003g0034 a0001c0001t0003g0171 a0001c0001t0003g0173 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0011g0019 a0001c0001t0011g0032 a0001c0001t0011g0049 a0001c0001t0011g0050 a0001c0001t0017g0018 a0001c0001t0017g0042 a0001c0001t0017g0047 a0001c0001t0018g0039 a0001c0001t0018g0041 a0001c0001t0018g0051 a0001c0001t0018g0183 a0001c0001t0024g0044 a0001c0001t0024g0048 a0001c0001t0024g0163 a0001c0001t0025g0033 a0001c0001t0025g0182 a0001c0001t0028g0190 a0001c0001t0028g0191 a0001c0001t0034g0079 a0001c0001t0034g0099 a0001c0001t0035g0045 a0001c0001t0035g0162 a0001c0001t0036g0192 a0001c0001t0036g0194 a0001c0001t0045g0069 a0001c0001t0046g0187 a0001c0001t0047g0186 a0001c0001t0048g0188 a0001c0001t0067g0054 a0001c0001t0068g0037 a0001c0001t0069g0038 a0001c0001t0070g0046 a0001c0001t0071g0040 a0001c0001t0072g0053 a0001c0001t0073g0043 a0001c0001t0074g0193 a0001c0001t0075g0189 a0001c0001t0076g0195 a0001c0001t0077g0035 a0001c0001t0081g0201	73	322	0.2267	-20	c.38 others(31): Show c.3850_*3869delTAGGCATTCTATCTGAAAAC	EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding		2519		chr12	TogoVar
EIF2B1_chr12_123615406_123638686	123620580	TTATATAT others(13): Show TTATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0081 a0001c0001t0081	a0001c0001t0081g0201 a0001c0001t0081g0201	1	322	0.0031	-20	c.11 others(31): Show c.1156_*1175delTATATATATATATATATATA	EIF2B1	ENSG00000111361.13	transcript	ENST00000424014.7	protein_coding	9/9	1156		chr12	TogoVar
EIF2B3_chr1_44845522_44991595	44937883	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0006 a0006	a0006c0003 a0006c0003	a0006c0003t0002 a0006c0003t0002	a0006c0003t0002g0010 a0006c0003t0002g0010	1	322	0.0031	-20	c.454 others(37): Show c.454+3603_454+3622delTTTTTTTTTTTTTTTTTTTT	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	4/11			chr1	TogoVar
EIF2B5_chr3_184130358_184150311	184133897	AGTGTGTG others(13): Show AGTGTGTGTGTGTGTGTGTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG03041.hp2 HG02451.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0080 a0001c0001t0002g0089 a0001c0001t0001g0080 a0001c0001t0002g0089	2	426	0.0047	-20	c.-14 others(31): Show c.-1488_-1469delGTGTGTGTGTGTGTGTGTTT	EIF2B5	ENSG00000145191.15	transcript	ENST00000648915.2	protein_coding		1460		chr3	TogoVar
EIF3E_chr8_108196216_108253717	108204762	GAGAGAGA others(13): Show GAGAGAGAGAGAGAGAGAGAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0109 a0001c0001t0004g0109	1	348	0.0029	-20	c.106 others(39): Show c.1062-1279_1062-1260delGTCTCTCTCTCTCTCTCTCT	EIF3E	ENSG00000104408.11	transcript	ENST00000220849.10	protein_coding	10/12			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116743789	TATATATA others(13): Show TATATATATAAACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp2 HG02895.hp1 others(1): Show HG01891.hp2 HG02486.hp2 HG02895.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0012g0211 others(1): Show a0001c0001t0012g0203 a0001c0001t0012g0210 a0001c0001t0012g0211 a0001c0001t0012g0212	4	336	0.0119	-20	c.132 others(39): Show c.132+11857_132+11876delGTGTGTGTGTTTATATATAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116750037	TATATATG others(13): Show TATATATGACTGAGAATGGTC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0334 a0001c0001t0003g0334	1	336	0.0030	-20	c.132 others(37): Show c.132+5609_132+5628delGACCATTCTCAGTCATATAT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752665	GAAGAAAG others(13): Show GAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA19043.hp1 HG01081.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0246 a0001c0001t0001g0127 a0001c0001t0001g0246	2	336	0.0060	-20	c.132 others(37): Show c.132+2981_132+3000delTCTTTCTTTCTTTCTTTCTT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752752	AGAGGGAG others(13): Show AGAGGGAGGGAGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03041.hp2 others(1): Show HG02717.hp1 HG02922.hp1 HG03041.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 others(1): Show a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201	4	336	0.0119	-20	c.132 others(37): Show c.132+2894_132+2913delCCTCCCTCCCTCCCTCCCTC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752779	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp1 HG00323.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0197 a0001c0001t0014g0101 a0001c0001t0005g0197 a0001c0001t0014g0101	2	336	0.0060	-20	c.132 others(37): Show c.132+2867_132+2886delTTCCCTCCCTCCCTCCCTCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3H_chr8_116637130_116760823	116752783	GGGAGGGA others(13): Show GGGAGGGAGGGAGGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02976.hp1 HG03041.hp1 others(2): Show HG02451.hp1 HG02976.hp1 HG03041.hp1 NA19054.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0007g0325 others(2): Show a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327	5	336	0.0149	-20	c.132 others(37): Show c.132+2863_132+2882delTTCCTTCCCTCCCTCCCTCC	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	1/7			chr8	TogoVar
EIF3M_chr11_32578831_32611264	32609677	TGCTAATA others(13): Show TGCTAATAAAGACATACCCAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0007 a0001c0001t0020g0007	1	344	0.0029	-20	c.72 others(31): Show c.7279_*7298delGCTAATAAAGACATACCCAA	EIF3M	ENSG00000149100.13	transcript	ENST00000531120.6	protein_coding		3414		chr11	TogoVar
EIF4A1_chr17_7567825_7584006	7571837	TTATATAT others(13): Show TTATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp1 HG01978.hp1 HG01952.hp1 HG01978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	2	436	0.0046	-20	c.-10 others(30): Show c.-1004_-985delTATATATATATATATATATA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		987		chr17	TogoVar
EIF4A1_chr17_7567825_7584006	7571892	TATATATA others(13): Show TATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 NA19002.hp2 HG01515.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	436	0.0046	-20	c.-94 others(29): Show c.-949_-930delATATATATATATATATAAAA	EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding		932		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147009	CTGCCGCT others(13): Show CTGCCGCTGCCGACCTCGCTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0190 a0001c0001t0062g0190	1	420	0.0024	-20	c.-68 others(27): Show c.-68_-49delCAGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	49		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80147047	CTGCCGCT others(13): Show CTGCCGCTGCCGACCTCGCTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00408.hp1 HG01106.hp2 HG01257.hp2 others(11): Show HG00408.hp1 HG01106.hp2 HG01257.hp2 HG01943.hp2 HG02015.hp1 HG02965.hp2 HG03831.hp1 HG03942.hp1 NA18944.hp2 NA18957.hp2 NA18966.hp2 NA18993.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0066 a0001c0002t0022 a0001c0001t0009 a0001c0001t0066 a0001c0002t0022	a0001c0001t0009g0015 a0001c0001t0009g0198 a0001c0001t0009g0199 others(7): Show a0001c0001t0009g0015 a0001c0001t0009g0198 a0001c0001t0009g0199 a0001c0001t0009g0200 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0066g0195 a0001c0002t0022g0196 a0001c0002t0022g0197 a0001c0002t0022g0203	14	420	0.0333	-20	c.-10 others(28): Show c.-106_-87delCAGCGAGGTCGGCAGCGGCA	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	87		chr17	TogoVar
EIF4E3_chr3_71670414_71730402	71714240	GGAAAGGA others(13): Show GGAAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	398	0.0025	-20	c.177 others(37): Show c.177-3776_177-3757delTTCCTTCCTTCCTTCCTTTC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6			chr3	TogoVar
EIF4E3_chr3_71670414_71730402	71714253	GGAAGGAA others(13): Show GGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(58): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00639.hp1 HG00673.hp2 HG01106.hp1 HG01192.hp1 HG01243.hp2 HG01361.hp1 HG01433.hp1 HG01891.hp1 HG01978.hp2 HG02027.hp2 HG02083.hp1 HG02135.hp2 HG02300.hp2 HG02451.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03209.hp2 HG03669.hp1 HG03834.hp2 HG03927.hp1 NA18906.hp2 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18961.hp1 NA18962.hp2 NA18973.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18986.hp1 NA18990.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA19003.hp1 NA19007.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19074.hp2 NA19076.hp1 NA19088.hp2 NA19090.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0021 a0001c0001t0025 a0001c0001t0050 a0001c0001t0063 a0001c0001t0075 a0001c0001t0079 a0001c0001t0083	a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0203 others(56): Show a0001c0001t0001g0044 a0001c0001t0001g0055 a0001c0001t0001g0203 a0001c0001t0001g0249 a0001c0001t0001g0254 a0001c0001t0001g0295 a0001c0001t0002g0033 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0082 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0288 a0001c0001t0003g0011 a0001c0001t0003g0028 a0001c0001t0003g0043 a0001c0001t0003g0048 a0001c0001t0003g0097 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0300 a0001c0001t0003g0301 a0001c0001t0004g0012 a0001c0001t0004g0053 a0001c0001t0004g0186 a0001c0001t0004g0289 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0004g0374 a0001c0001t0004g0375 a0001c0001t0004g0376 a0001c0001t0005g0047 a0001c0001t0005g0247 a0001c0001t0005g0253 a0001c0001t0007g0045 a0001c0001t0014g0302 a0001c0001t0015g0248 a0001c0001t0015g0250 a0001c0001t0016g0333 a0001c0001t0021g0079 a0001c0001t0021g0080 a0001c0001t0025g0046 a0001c0001t0050g0114 a0001c0001t0063g0081 a0001c0001t0075g0083 a0001c0001t0079g0187 a0001c0001t0083g0296	61	398	0.1533	-20	c.177 others(37): Show c.177-3789_177-3770delTTTCCTTCCTTCCTTCCTTC	EIF4E3	ENSG00000163412.13	transcript	ENST00000425534.8	protein_coding	1/6			chr3	TogoVar
EIF4EBP1_chr8_38025534_38065365	38045120	AATCTTGA others(13): Show AATCTTGATGTTCTTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG04184.hp2 NA18747.hp1 others(1): Show HG02165.hp1 HG04184.hp2 NA18747.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0031 a0001c0001t0001g0104 a0001c0001t0001g0106	4	344	0.0116	-20	c.146 others(39): Show c.146-11958_146-11939delCTTGATGTTCTTTATTTTAT	EIF4EBP1	ENSG00000187840.5	transcript	ENST00000338825.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
EIF4E_chr4_98874276_98934133	98917117	CACACACA others(13): Show CACACACACACACACACAAAA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02145.hp1 HG02572.hp1 others(5): Show HG00733.hp2 HG02145.hp1 HG02572.hp1 HG02647.hp1 HG02723.hp2 HG02886.hp2 HG03516.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0115 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0002t0003g0084	8	300	0.0267	-20	c.18+ others(37): Show c.18+11958_18+11977delTTTTGTGTGTGTGTGTGTGT	EIF4E	ENSG00000151247.13	transcript	ENST00000450253.7	protein_coding	1/6			chr4	TogoVar
EIF4G1_chr3_184309606_184340353	184319447	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02129.hp1 HG02155.hp1 others(8): Show HG02080.hp2 HG02129.hp1 HG02155.hp1 HG02602.hp1 HG02615.hp1 HG02896.hp2 HG03195.hp1 HG03209.hp1 NA18943.hp2 NA20129.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0018 a0001c0001 a0001c0003 a0001c0018	a0001c0001t0001 a0001c0003t0001 a0001c0018t0007 a0001c0001t0001 a0001c0003t0001 a0001c0018t0007	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0143 others(5): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0143 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0003t0001g0023 a0001c0003t0001g0191 a0001c0018t0007g0195	11	384	0.0287	-20	c.425 others(35): Show c.425-224_425-205delGTTTGTGTGTGTGTGTGTGT	EIF4G1	ENSG00000114867.22	transcript	ENST00000346169.7	protein_coding	6/32		INFO_REALIGN_3_PRIME	chr3	TogoVar
EIF4G3_chr1_20801479_21181897	20943970	TTTTTTGT others(13): Show TTTTTTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	312	0.0032	-20	c.824 others(37): Show c.824-1660_824-1641delCACACACACACACACAAAAA	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	13/36			chr1	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02572.hp2 HG06807.hp1 HG02080.hp1 HG02572.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	3	374	0.0080	-20	c.60- others(33): Show c.60-790_60-771delTTTTTTTTTTTTTTTTTTTT	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIF5B_chr2_99332389_99406326	99403979	TAGAGCAA others(13): Show TAGAGCAAGAATAAGGAATTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02109.hp1 NA19240.hp1 HG02055.hp2 HG02109.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0001 a0001c0011 a0002c0001	a0001c0011t0022 a0002c0001t0002 a0001c0011t0022 a0002c0001t0002	a0001c0011t0022g0304 a0002c0001t0002g0217 a0002c0001t0002g0218 a0001c0011t0022g0304 a0002c0001t0002g0217 a0002c0001t0002g0218	3	342	0.0088	-20	c.45 others(31): Show c.4566_*4585delAGAGCAAGAATAAGGAATTA	EIF5B	ENSG00000158417.12	transcript	ENST00000289371.11	protein_coding		2654		chr2	TogoVar
EIPR1_chr2_3183970_3382818	3237221	TACACACA others(13): Show TACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0231 a0001c0001t0001g0231	1	250	0.0040	-20	c.416 others(39): Show c.416+20058_416+20077delGTGTGTGTGTGTGTGTGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
ELANE_chr19_847303_861243	857033	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03209.hp2 HG03098.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0090 a0001c0001t0001g0005 a0001c0001t0001g0090	2	403	0.0050	-20	c.87 others(29): Show c.870_*889delAAATAAATAAATAAATAAAT	ELANE	ENSG00000197561.7	transcript	ENST00000263621.2	protein_coding		791		chr19	TogoVar
ELAPOR1_chr1_109109115_109211781	109113416	AAGAGAGA others(13): Show AAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG02083.hp2 HG02300.hp1 others(8): Show HG00639.hp2 HG02083.hp2 HG02300.hp1 HG02735.hp2 HG03491.hp2 HG03831.hp2 NA18955.hp1 NA18971.hp1 NA18984.hp2 NA19063.hp2 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0020 a0004c0008t0009	a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 others(8): Show a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0002g0127 a0001c0001t0003g0118 a0001c0001t0003g0120 a0001c0001t0020g0117 a0001c0001t0020g0128 a0004c0008t0009g0125 a0004c0008t0009g0126 a0004c0008t0009g0129	11	230	0.0478	-20	c.-76 others(29): Show c.-767_-748delAGAGAGAGAGAGAGAGAGAG	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		698		chr1	TogoVar
ELAPOR2_chr7_86871906_87064654	86905070	AGAAGGAA others(13): Show AGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0187 a0002c0002t0001g0187	1	196	0.0051	-20	c.255 others(39): Show c.2558+2580_2558+2599delCTTCCTTCCTTCCTTCCTTC	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	18/21			chr7	TogoVar
ELAPOR2_chr7_86871906_87064654	87052767	GTTTGTTT others(13): Show GTTTGTTTTCTTTTGTTTTGT	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02965.hp1 HG02970.hp2 others(3): Show HG02109.hp2 HG02965.hp1 HG02970.hp2 HG03453.hp1 HG03579.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0003t0004g0006	6	196	0.0306	-20	c.189 others(37): Show c.189+6538_189+6557delACAAAACAAAAGAAAACAAA	ELAPOR2	ENSG00000164659.15	transcript	ENST00000450689.7	protein_coding	1/21			chr7	TogoVar
ELAVL1_chr19_7953573_8010641	7957380	AGAAAGAA others(13): Show AGAAAGAAAGAAGGAAGGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0026 a0001c0002t0026	a0001c0002t0026g0209 a0001c0002t0026g0209	1	276	0.0036	-20	c.60 others(31): Show c.6083_*6102delCTTCCTTCCTTCTTTCTTTC	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1192		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23759754	TTATATAT others(13): Show TTATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	352	0.0028	-20	c.229 others(37): Show c.229+2232_229+2251delTATATATATATATATATATA	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp1 HG01261.hp1 others(13): Show HG00735.hp1 HG00738.hp1 HG01261.hp1 HG01346.hp2 HG01981.hp2 HG02109.hp1 HG02257.hp2 HG02300.hp1 HG02451.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG03704.hp1 NA18522.hp2 NA18941.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 others(13): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0001g0142 a0001c0001t0001g0167 a0001c0001t0001g0301 a0001c0001t0002g0012 a0001c0001t0003g0095 a0001c0001t0003g0308 a0001c0001t0003g0320 a0001c0001t0004g0098 a0001c0001t0006g0145	16	352	0.0455	-20	c.-15 others(39): Show c.-15-17750_-15-17731delTTTTTTTTTTTTTTTTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6			chr9	TogoVar
ELAVL4_chr1_50103920_50208772	50119036	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp1 HG00673.hp2 others(2): Show HG00438.hp1 HG00673.hp1 HG00673.hp2 NA18971.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0013 a0001c0001t0001 a0001c0001t0002 a0001c0002t0013	a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 others(2): Show a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0002g0184 a0001c0002t0013g0090	5	276	0.0181	-20	c.9+9 others(33): Show c.9+9878_9+9897delGAAAGAAAGAAAGAAAGAAA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL4_chr1_50103920_50208772	50133599	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG01243.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0065 a0001c0002t0001g0146 a0001c0001t0001g0065 a0001c0002t0001g0146	2	276	0.0073	-20	c.10- others(37): Show c.10-11324_10-11305delAAGAAAGAAAGAAAGAAAGA	ELAVL4	ENSG00000162374.18	transcript	ENST00000371824.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELF1_chr13_40926924_41024316	41016939	AAAAAAAA others(13): Show AAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0006 a0001c0001t0015g0006	1	362	0.0028	-20	c.-22 others(39): Show c.-229+2269_-229+2288delATATATATATATTTTTTTTT	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding	1/8			chr13	TogoVar
ELF2_chr4_139052265_139182218	139151032	AAAAGAAA others(13): Show AAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01433.hp2 HG01496.hp1 others(10): Show HG00099.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG02257.hp1 HG03704.hp1 HG03834.hp2 HG04184.hp1 NA18998.hp2 NA19004.hp2 NA19065.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0003 a0001c0001t0002 a0003c0003t0003	a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0141 others(10): Show a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0002g0141 a0001c0001t0002g0150 a0001c0001t0002g0155 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0335 a0001c0001t0002g0336 a0003c0003t0003g0147 a0003c0003t0003g0148	13	342	0.0380	-20	c.-25 others(41): Show c.-251-11555_-251-11536delCTTTCTTTCTTTCTTTCTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELF4_chrX_130058955_130115497	130102876	GAGAGAGA others(13): Show GAGAGAGAGAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03195.hp1 HG03471.hp1 others(1): Show HG02055.hp1 HG03195.hp1 HG03471.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0022 a0001c0001t0041 others(1): Show a0001c0001t0005 a0001c0001t0022 a0001c0001t0041 a0001c0002t0004	a0001c0001t0005g0249 a0001c0001t0022g0158 a0001c0001t0041g0160 others(1): Show a0001c0001t0005g0249 a0001c0001t0022g0158 a0001c0001t0041g0160 a0001c0002t0004g0159	4	274	0.0146	-20	c.-21 others(39): Show c.-210+7429_-210+7448delTTCTTTCTTTCTCTCTCTCT	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF4_chrX_130058955_130115497	130105854	CTGTGTGT others(13): Show CTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	274	0.0037	-20	c.-21 others(39): Show c.-210+4451_-210+4470delCACACACACACACACACACA	ELF4	ENSG00000102034.18	transcript	ENST00000308167.10	protein_coding	1/8			chrX	TogoVar
ELF5_chr11_34473791_34518794	34484481	AACTATAC others(13): Show AACTATACTATACTATACTAT	A A	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0139 a0001c0001t0003g0139	1	436	0.0023	-20	c.407 others(37): Show c.407-2002_407-1983delATAGTATAGTATAGTATAGT	ELF5	ENSG00000135374.11	transcript	ENST00000257832.7	protein_coding	4/6			chr11	TogoVar
ELFN1_chr7_1665277_1752946	1706424	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02647.hp2 others(1): Show HG02145.hp2 HG02258.hp1 HG02647.hp2 HG03516.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0006 a0001c0001 a0002c0003 a0003c0006	a0001c0001t0012 a0001c0001t0065 a0002c0003t0024 others(1): Show a0001c0001t0012 a0001c0001t0065 a0002c0003t0024 a0003c0006t0016	a0001c0001t0012g0149 a0001c0001t0065g0295 a0002c0003t0024g0144 others(1): Show a0001c0001t0012g0149 a0001c0001t0065g0295 a0002c0003t0024g0144 a0003c0006t0016g0182	4	302	0.0133	-20	c.-45 others(39): Show c.-455-2640_-455-2621delAAACAAAACAAAACAAAACA	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELFN2_chr22_37362960_37432479	37395106	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0128 a0001c0001t0017g0128	1	334	0.0030	-20	c.-46 others(41): Show c.-462-19130_-462-19111delATTTATTTATTTATTTATTT	ELFN2	ENSG00000166897.16	transcript	ENST00000402918.7	protein_coding	2/2			chr22	TogoVar
ELL2_chr5_95880098_95966851	95927480	CACACGTG others(13): Show CACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0226 a0001c0001t0002g0226	1	314	0.0032	-20	c.196 others(37): Show c.196-7955_196-7936delATGTCTATATACACACGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950898	GTATGTGT others(13): Show GTATGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02559.hp2 HG02723.hp1 others(3): Show HG01255.hp2 HG02559.hp2 HG02723.hp1 HG03041.hp1 HG03098.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0008 a0002c0002t0001 a0002c0002t0022 a0001c0005t0008 a0002c0002t0001 a0002c0002t0022	a0001c0005t0008g0014 a0002c0002t0001g0117 a0002c0002t0001g0120 others(3): Show a0001c0005t0008g0014 a0002c0002t0001g0117 a0002c0002t0001g0120 a0002c0002t0001g0138 a0002c0002t0001g0150 a0002c0002t0022g0116	6	314	0.0191	-20	c.148 others(37): Show c.148-7869_148-7850delTATATATATATATACACATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95950904	GTATATAT others(13): Show GTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02258.hp1 HG02451.hp1 others(4): Show HG01943.hp1 HG02258.hp1 HG02451.hp1 HG02559.hp1 HG02809.hp1 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 others(4): Show a0001c0001t0002g0222 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0017g0231	7	314	0.0223	-20	c.148 others(37): Show c.148-7875_148-7856delTATATATATATATATATATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95954583	CTTTTTTT others(13): Show CTTTTTTTTTTTTCTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 NA18906.hp2 HG02622.hp2 HG03041.hp2 NA18906.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0010 a0001c0005t0010	a0001c0005t0010g0048 a0001c0005t0010g0049 a0001c0005t0010g0050 a0001c0005t0010g0048 a0001c0005t0010g0049 a0001c0005t0010g0050	3	314	0.0096	-20	c.147 others(37): Show c.147+6972_147+6991delAAAAAAAGAAAAAAAAAAAA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	1/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18467631	CCACACAC others(13): Show CCACACACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	244	0.0041	-20	c.184 others(37): Show c.184-1733_184-1714delTGTGTGTGTGTGTGTGTGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	2/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(13): Show ATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	244	0.0041	-20	c.136 others(39): Show c.136-18387_136-18368delAAAAAAAAAAAAAAAAAAAA	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509591	GCGCACAT others(13): Show GCGCACATACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp1 NA18951.hp1 NA19081.hp1 others(1): Show HG01884.hp1 NA18951.hp1 NA19081.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0210 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0177 a0001c0001t0001g0210 a0001c0001t0001g0211	4	244	0.0164	-20	c.135 others(39): Show c.135+12310_135+12329delTGTGTGTGTGTGTATGTGCG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar
ELL_chr19_18437663_18527070	18509593	GCACATAC others(13): Show GCACATACACACACACACACA	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02572.hp2 HG02895.hp2 others(4): Show HG00642.hp2 HG02572.hp2 HG02895.hp2 HG03471.hp2 HG03486.hp1 NA18906.hp1 NA18961.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0012 a0002c0002 others(1): Show a0001c0001 a0001c0012 a0002c0002 a0006c0011	a0001c0001t0001 a0001c0001t0012 a0001c0012t0010 others(2): Show a0001c0001t0001 a0001c0001t0012 a0001c0012t0010 a0002c0002t0005 a0006c0011t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0209 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0209 a0001c0001t0012g0228 a0001c0012t0010g0172 a0002c0002t0005g0117 a0006c0011t0001g0171	7	244	0.0287	-20	c.135 others(39): Show c.135+12308_135+12327delTGTGTGTGTGTGTGTATGTG	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11			chr19	TogoVar

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