Joint Open Genome and Omics Platform (JoGo)

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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
DONSON_chr21_33572551_33593684	33577604	TACACACA others(49): Show TACACACACACACACACACACACACACACACACACACACACACACACACA CACACAC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp2 HG01109.hp2 HG01255.hp1 others(12): Show HG00735.hp2 HG01109.hp2 HG01255.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG02976.hp2 HG03130.hp1 HG06807.hp1 NA18956.hp1 NA18989.hp2 NA19057.hp2 NA19084.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0004 a0001c0001t0054 a0002c0003t0004 a0001c0001t0004 a0001c0001t0054 a0002c0003t0004	a0001c0001t0004g0044 a0001c0001t0004g0086 a0001c0001t0004g0089 others(12): Show a0001c0001t0004g0044 a0001c0001t0004g0086 a0001c0001t0004g0089 a0001c0001t0004g0093 a0001c0001t0004g0095 a0001c0001t0004g0098 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0112 a0001c0001t0004g0114 a0001c0001t0054g0131 a0001c0001t0054g0135 a0002c0003t0004g0388 a0002c0003t0004g0390	15	426	0.0352	-56	c.64 others(65): Show c.647_*702delGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGT		DONSON	ENSG00000159147.18	transcript	ENST00000303071.10	protein_coding	10/10				647		chr21	TogoVar
DPH7_chr9_137549444_137583925	137565280	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC GGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	340	0.0029	-56	c.641 others(71): Show c.641-182_641-127delTCACCCCGGGGAGCTTCCTCACAGACAGTC ACCCAGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565426	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02717.hp2 others(1): Show HG01261.hp2 HG02572.hp1 HG02717.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0176 a0001c0001t0001g0016 a0001c0001t0001g0150 a0001c0001t0001g0176	4	340	0.0118	-56	c.641 others(71): Show c.641-328_641-273delTCACCCAGGGGAGCTTCCTCACAGACAGTC ACCCAGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565812	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02451.hp1 others(7): Show HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02886.hp1 HG02970.hp2 HG03209.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0187 others(7): Show a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0187 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0295 a0002c0002t0001g0239 a0002c0002t0001g0240	10	340	0.0294	-56	c.641 others(71): Show c.641-714_641-659delTCACCCAGGGGAGCTTCCTCACAGACAGTC ACCCCGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565834	GGGGTGAC others(49): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02071.hp2 NA18980.hp1 HG01081.hp2 HG02071.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0224 a0001c0001t0001g0089 a0001c0001t0001g0138 a0001c0001t0001g0224	3	340	0.0088	-56	c.641 others(71): Show c.641-736_641-681delAGGGGAGCTTCCTCACAGACAGTCACCCAG GGGAGCTTCCTCACAGACAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137565958	TGTCTGTG others(49): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01361.hp1 HG01515.hp1 others(13): Show HG00621.hp2 HG01361.hp1 HG01515.hp1 HG01517.hp2 HG01978.hp1 HG02148.hp1 HG02293.hp2 HG02622.hp2 HG02735.hp1 HG03669.hp1 HG03831.hp2 HG03942.hp1 NA18962.hp1 NA18981.hp1 NA19009.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0073 others(12): Show a0001c0001t0001g0009 a0001c0001t0001g0044 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0092 a0001c0001t0001g0110 a0001c0001t0001g0124 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0185 a0001c0001t0001g0248 a0001c0001t0002g0265 a0001c0001t0002g0311	16	340	0.0471	-56	c.641 others(71): Show c.641-860_641-805delTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCCAGGGGAGCTTCCTCACAGAC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566016	TGTCTGTG others(49): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA18979.hp1 HG01358.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0129 a0001c0001t0001g0120 a0001c0001t0001g0129	2	340	0.0059	-56	c.641 others(71): Show c.641-918_641-863delTCACCCAGGGGAGCTTCCTCACAGACAGAG TCACCCAGGGGAGCTTCCTCACAGAC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566250	TGTCTGTG others(49): Show TGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp2 HG00642.hp1 others(35): Show HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp2 HG01255.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01978.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02165.hp2 HG02622.hp1 HG02630.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp2 HG03225.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG04228.hp1 NA18747.hp2 NA18953.hp1 NA18953.hp2 NA18957.hp1 NA18973.hp1 NA18981.hp2 NA18985.hp2 NA19004.hp1 NA19030.hp2 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0030 others(31): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0109 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0275 a0001c0001t0003g0017 a0001c0001t0007g0231 a0001c0001t0008g0102 a0004c0004t0001g0137	38	340	0.1118	-56	c.641 others(73): Show c.641-1152_641-1097delTCACCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGAC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566844	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02148.hp2 HG02922.hp2 others(1): Show HG02040.hp2 HG02148.hp2 HG02922.hp2 NA18999.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0004 a0001c0001 a0002c0002 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0004c0004t0001	a0001c0001t0001g0148 a0001c0001t0002g0264 a0002c0002t0001g0238 others(1): Show a0001c0001t0001g0148 a0001c0001t0002g0264 a0002c0002t0001g0238 a0004c0004t0001g0209	4	340	0.0118	-56	c.641 others(73): Show c.641-1746_641-1691delTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCCGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137566866	GGGGTGAC others(49): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	340	0.0029	-56	c.641 others(73): Show c.641-1768_641-1713delAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567198	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02717.hp1 NA18979.hp1 others(1): Show HG02258.hp1 HG02717.hp1 NA18979.hp1 NA19066.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0287 others(1): Show a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0287 a0002c0002t0001g0235	4	340	0.0118	-56	c.641 others(73): Show c.641-2100_641-2045delTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCCGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567220	GGGGTGAC others(49): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03209.hp1 NA18522.hp2 HG02818.hp2 HG03209.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0050 a0002c0002t0001g0233 a0002c0002t0001g0234 a0001c0001t0001g0050 a0002c0002t0001g0233 a0002c0002t0001g0234	3	340	0.0088	-56	c.641 others(73): Show c.641-2122_641-2067delAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567462	TCTGTCTG others(49): Show TCTGTCTGTGAGGAAGCTCCCCGGGGTGACTGTCTGTGAGGAAGCTCCCC TGGGTGA	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG03453.hp2 NA20300.hp1 HG01361.hp2 HG03453.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0072 a0001c0001t0001g0039 a0001c0001t0001g0060 a0001c0001t0001g0072	3	340	0.0088	-56	c.641 others(73): Show c.641-2364_641-2309delTCACCCAGGGGAGCTTCCTCACAGACAG TCACCCCGGGGAGCTTCCTCACAGACAG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137567484	GGGGTGAC others(49): Show GGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAG CTCCCCT	G G	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	340	0.0029	-56	c.641 others(73): Show c.641-2386_641-2331delAGGGGAGCTTCCTCACAGACAGTCACCC AGGGGAGCTTCCTCACAGACAGTCACCC		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPH7_chr9_137549444_137583925	137568205	GTCTGTGA others(49): Show GTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCT GGGTGAC	G G	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19065.hp2 NA18945.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0073 a0001c0001t0001g0074	2	340	0.0059	-56	c.641 others(73): Show c.641-3107_641-3052delGTCACCCAGGGGAGCTTCCTCACAGACA GAGTCACCCAGGGGAGCTTCCTCACAGA		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8						chr9	TogoVar
DPP9_chr19_4670227_4728842	4672234	CATATATA others(49): Show CATATATATGAATATATATTCATATATATGAATATATATATTAATATATT CATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03471.hp2 NA19084.hp2 HG02280.hp1 HG03471.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0001t0003g0069 a0001c0001t0002g0003 a0001c0001t0002g0035 a0001c0001t0003g0069	3	314	0.0096	-56	c.42 others(67): Show c.4274_*4329delATATATGAATATATTAATATATATATTCATATAT ATGAATATATATTCATATATAT		DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding					2992		chr19	TogoVar
DRC7_chr16_57689806_57736805	57705750	CTCTCCTC others(49): Show CTCTCCTCCCATCCATCCTCCCATCCATCCATCCTCCCATCCATCCATCC TCCCATT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18522.hp1 HG02895.hp1 HG02897.hp2 NA18522.hp1	a0003 a0023 a0003 a0023	a0003c0017 a0023c0036 a0003c0017 a0023c0036	a0003c0017t0001 a0023c0036t0001 a0003c0017t0001 a0023c0036t0001	a0003c0017t0001g0030 a0023c0036t0001g0294 a0003c0017t0001g0030 a0023c0036t0001g0294	3	388	0.0077	-56	c.858 others(71): Show c.858+757_858+812delCATCCATCCTCCCATTTCTCCTCCCATCCA TCCTCCCATCCATCCATCCTCCCATC		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	7/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC7_chr16_57689806_57736805	57729137	AATGGATG others(49): Show AATGGATGGATGGGTGGATGGATGAATGGATGAGTGGGTGGGTAGATGGA TGAATGG	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0108 a0004c0005t0001g0108	1	388	0.0026	-56	c.239 others(73): Show c.2391+562_2391+617delATGGGTGGATGGATGAATGGATGAGTGG GTGGGTAGATGGATGAATGGATGGATGG		DRC7	ENSG00000159625.15	transcript	ENST00000360716.8	protein_coding	17/18					INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158929385	AGGCCTGG others(49): Show AGGCCTGGCCAGAAAGGCTGCCCGTGGGCGGTGGCGTGTAGGGGCCCAGT CGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0196 a0001c0001t0005g0196	1	274	0.0037	-56	c.248 others(74): Show c.2486-1048_2486-993delCGTGGGCGGTGGCGTGTAGGGGCCCAG TCGGAAAGGGCCTGGCCAGAAAGGCTGCC		DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	20/24					INFO_REALIGN_3_PRIME	chr7	TogoVar
DYTN_chr2_206646621_206723396	206707734	ATAGTTGT others(49): Show ATAGTTGTAACATTATTACCAGTACAGTTTCTAGGATGTTGTTTTATAGA AAGAAGT	A A	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18968.hp2 NA19072.hp2 NA18944.hp1 NA18968.hp2 NA19072.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0323 a0001c0001t0001g0009 a0001c0001t0001g0323	3	382	0.0079	-56	c.95- others(69): Show c.95-287_95-232delACTTCTTTCTATAAAACAACATCCTAGAAACT GTACTGGTAATAATGTTACAACTA		DYTN	ENSG00000232125.5	transcript	ENST00000452335.2	protein_coding	2/11						chr2	TogoVar
EBF2_chr8_25836725_26050413	26002880	GGGCAGGC others(49): Show GGGCAGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAG GCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03130.hp2 HG02922.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0025 a0001c0001t0002g0026	2	220	0.0091	-56	c.551 others(75): Show c.551+30149_551+30204delTGCCTGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	26002892	AGGCAGGC others(49): Show AGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCAGGCAG GCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01168.hp2 HG02004.hp2 others(1): Show HG00140.hp2 HG01168.hp2 HG02004.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0009 a0001c0001t0001 a0001c0002t0001 a0001c0002t0009	a0001c0001t0001g0080 a0001c0002t0001g0078 a0001c0002t0009g0003 others(1): Show a0001c0001t0001g0080 a0001c0002t0001g0078 a0001c0002t0009g0003 a0001c0002t0009g0004	4	220	0.0182	-56	c.551 others(75): Show c.551+30137_551+30192delCGCCCGCCTGCCTGCCTGCCTGCCCG CCTGCCCGCCTGCCCGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EEFSEC_chr3_128148481_128413646	128330917	CCCCCCTT others(49): Show CCCCCCTTCCTCAGTGCATCTCCCCTCTTCCCCCTTCCTCAGTGCATCTC CCCTCTT	C C	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	272	0.0037	-56	c.787 others(75): Show c.787-10310_787-10255delTTCCTCAGTGCATCTCCCCTCTTCCC CCTTCCTCAGTGCATCTCCCCTCTTCCCCC		EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr3	TogoVar
EFCAB9_chr5_172189172_172208454	172189813	GAAAGGAA others(49): Show GAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGAGAAAGGGAAAGGAAA GGAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp2 HG00544.hp1 others(124): Show HG00423.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00738.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01258.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01943.hp2 HG02015.hp2 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03540.hp2 HG03654.hp2 HG04184.hp1 HG04204.hp1 NA18522.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18972.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18988.hp1 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0001t0001 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(49): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0002t0001g0068 a0001c0002t0001g0125 a0001c0002t0001g0151 a0001c0003t0001g0029 a0001c0003t0001g0048 a0001c0003t0001g0126 a0001c0003t0001g0144 a0001c0003t0001g0147	127	408	0.3113	-56	c.-43 others(67): Show c.-4359_-4304delAAAGGAAAGAGAGAAAGAGAGAAAGAAAGAAAGA GAAAGGGAAAGGAAAGGAAGAA		EFCAB9	ENSG00000214360.5	transcript	ENST00000398186.5	protein_coding					4358		chr5	TogoVar
EIF4A1_chr17_7567825_7584006	7571856	TATATATA others(49): Show TATATATATATATATATATATATATATATATATATATATATATATATATA TATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	436	0.0023	-56	c.-98 others(65): Show c.-985_-930delATATATATATATATATATATATATATATATATATAT ATATATATATATATATAAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					968		chr17	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	CGCCGCTG others(49): Show CGCCGCTGCCGACCTCGCTGCCGCTGCCGACCTCGCTGTGCCGCTGCCGA CCTCGCT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01074.hp2 HG01496.hp2 HG01074.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0064 a0001c0001t0065 a0001c0001t0064 a0001c0001t0065	a0001c0001t0064g0193 a0001c0001t0065g0194 a0001c0001t0064g0193 a0001c0001t0065g0194	2	420	0.0048	-56	c.-87 others(63): Show c.-87_-32delAGCGAGGTCGGCAGCGGCACAGCGAGGTCGGCAGCGGC AGCGAGGTCGGCAGCGGC		EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12				32		chr17	TogoVar
EIPR1_chr2_3183970_3382818	3219391	TTCTAGAG others(49): Show TTCTAGAGCTTTCACAGTGAGTGAGTCAGGTGCACACTCAACACGGCCCT GATATGC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	250	0.0040	-56	c.417 others(73): Show c.417-5199_417-5144delGCATATCAGGGCCGTGTTGAGTGTGCAC CTGACTCACTCACTGTGAAAGCTCTAGA		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8						chr2	TogoVar
ELP4_chr11_31504767_31795324	31554219	TAATGCTC others(49): Show TAATGCTCTTGAATCATCCAGAAACCATCCGAGTCTGTGGAAAAACTGTC TTCCATA	T T	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0146 a0001c0001t0015g0146	1	270	0.0037	-56	c.381 others(75): Show c.381+14439_381+14494delTGCTCTTGAATCATCCAGAAACCATC CGAGTCTGTGGAAAAACTGTCTTCCATAAA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr11	TogoVar
EML6_chr2_54718662_54977025	54907909	TAGATAGA others(49): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGATAGATAGAT AGATAGA	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0017 a0005c0022t0017	a0005c0022t0017g0160 a0005c0022t0017g0160	1	264	0.0038	-56	c.341 others(75): Show c.3410-3044_3410-2989delAGATAGATAGATAGATAGATAGATAG ATAGATAGATAAGATAGATAGATAGATAGA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
ENOSF1_chr18_665318_717630	667280	GGATGGTG others(49): Show GGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	418	0.0024	-56	c.69 others(67): Show c.6969_*7024delTCTCCATCACCATCACCATCTCCATCACCATCAC CATCACCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3037		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137441009	ACCAGGAC others(49): Show ACCAGGACAGCCCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCC CCCAGAC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00544.hp1 others(52): Show HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00735.hp2 HG01123.hp2 HG01515.hp1 HG01952.hp2 HG01978.hp2 HG01993.hp2 HG02027.hp2 HG02132.hp1 HG02132.hp2 HG02257.hp1 HG02451.hp1 HG02622.hp2 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03225.hp1 HG03471.hp1 HG03491.hp1 HG03669.hp1 HG03831.hp2 HG03834.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp1 NA18942.hp2 NA18947.hp2 NA18962.hp1 NA18962.hp2 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp2 NA19002.hp2 NA19003.hp2 NA19030.hp1 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19064.hp2 NA19087.hp1 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0003 a0001c0001 a0001c0005 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0005t0001 a0003c0003t0002 a0003c0003t0012	a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0055 others(27): Show a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0072 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0017 a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0125 a0001c0001t0005g0035 a0001c0001t0005g0154 a0001c0005t0001g0124 a0003c0003t0002g0069 a0003c0003t0012g0075	55	392	0.1403	-56	c.-21 others(71): Show c.-21+221_-21+276delGTCTGGGGGGCTGTCCTGGTCTGGGGGGCT GTCCTGGTCTGGGGGGGCTGTCCTGG		ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9						chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29322708	TTATTTCT others(49): Show TTATTTCTATGTCTCCTCCTTTTCACGTGCAACACGTGGATTCAGTGATG TGACCAC	T T	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0026 a0002c0005t0026	a0002c0005t0026g0011 a0002c0005t0026g0011	1	125	0.0080	-56	c.276 others(75): Show c.276+59011_276+59066delGTGGTCACATCACTGAATCCACGTGT TGCACGTGAAAAGGAGGAGACATAGAAATA		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
EPHA6_chr3_96809594_97766532	97327899	ATGTGTGT others(49): Show ATGTGTGTATATATATGTATATGTGCATATATATGTATATGTGTATGTAT ATGTATC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG01192.hp1 others(39): Show HG00642.hp1 HG00735.hp1 HG01192.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01952.hp1 HG01978.hp1 HG02055.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 NA19004.hp2 NA19030.hp2 NA19043.hp1 NA19081.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0010 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0014 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0019 a0001c0002t0020 a0001c0002t0024 a0001c0002t0025 a0001c0002t0026 a0001c0003t0002 a0001c0003t0003 a0001c0003t0013 a0001c0003t0016 a0001c0003t0027 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0023 a0001c0006t0021 a0001c0007t0002 a0001c0009t0007 a0001c0010t0022 a0002c0008t0002	a0001c0001t0001g0013 a0001c0001t0002g0021 a0001c0001t0004g0016 others(39): Show a0001c0001t0001g0013 a0001c0001t0002g0021 a0001c0001t0004g0016 a0001c0001t0005g0017 a0001c0001t0005g0018 a0001c0001t0009g0019 a0001c0001t0009g0076 a0001c0001t0014g0045 a0001c0001t0028g0015 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0009 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0001g0030 a0001c0002t0001g0044 a0001c0002t0001g0074 a0001c0002t0001g0078 a0001c0002t0003g0043 a0001c0002t0004g0079 a0001c0002t0006g0053 a0001c0002t0019g0006 a0001c0002t0020g0042 a0001c0002t0024g0031 a0001c0002t0025g0008 a0001c0002t0026g0032 a0001c0003t0002g0036 a0001c0003t0003g0039 a0001c0003t0013g0001 a0001c0003t0016g0041 a0001c0003t0027g0003 a0001c0004t0001g0075 a0001c0004t0002g0026 a0001c0004t0002g0027 a0001c0004t0003g0037 a0001c0004t0003g0038 a0001c0004t0023g0073 a0001c0006t0021g0049 a0001c0007t0002g0033 a0001c0009t0007g0014 a0001c0010t0022g0050 a0002c0008t0002g0065	42	82	0.5122	-56	c.160 others(77): Show c.1607-77195_1607-77140delCTGTGTGTATATATATGTATATGT GCATATATATGTATATGTGTATGTATATGTAT		EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr3	TogoVar
ERBB3_chr12_56075165_56108505	56099889	AACAAGAA others(49): Show AACAAGAAGCTAGAGGAAGTAGAGCTGGAGCCAGAACTAGACCTAGACCT AGACTTG	A A	frameshift_variant frameshift_variant	HIGH	HG03491.hp1 HG03491.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0115 a0010c0010t0002g0115	1	392	0.0026	-56	c.299 others(65): Show c.2990_3045delACAAGAAGCTAGAGGAAGTAGAGCTGGAGCCAGAAC TAGACCTAGACCTAGACTTG	p.Asn others(5): Show p.Asn997fs	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding	25/28	3126/5615	2990/4029	997/1342			chr12	TogoVar
ERC2_chr3_55503311_56473467	55720182	TTCTTCTT others(49): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	74	0.0135	-56	c.271 others(77): Show c.2712+14533_2712+14588delGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348911	GGAAGGAA others(49): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAG AAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0001 a0001c0002t0004g0001	1	74	0.0135	-56	c.658 others(75): Show c.658-52532_658-52477delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348923	GGAAGGAA others(49): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAGG AAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	74	0.0135	-56	c.658 others(75): Show c.658-52544_658-52489delTTTCTTTCCTTCTTTCTTTCTTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERICH1_chr8_659200_736224	675292	CGGCGAGG others(49): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGC CCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp1 HG03491.hp2 HG02145.hp2 HG02572.hp1 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0247 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0002g0247	3	378	0.0079	-56	c.305 others(73): Show c.305-1301_305-1246delCGAGGGGGCGCCGCGTCTCTGTCCTCAC GAGGGGCCGCCGCGTCTCTGTCCTCGCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	675430	CGGCGAGG others(49): Show CGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGG CCCCTCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0237 a0002c0005t0001g0237	1	378	0.0027	-56	c.305 others(73): Show c.305-1439_305-1384delCGAGGGGCCGCCGCGTCTCTGTCCTCAC GAGGGGCCGCCGCGTCTCTGTCCTCGCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676301	CCCCCTCG others(49): Show CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGAC GCGGCGG	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0234 a0001c0009t0001g0234	1	378	0.0027	-56	c.305 others(73): Show c.305-2310_305-2255delCCGCCGCGTCTCTGTCCTCGCCGAGGGG CCGCCGCGTCTCTGTCCTCGCCGAGGGG		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	676392	TGAGGACA others(49): Show TGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0210 a0001c0013t0001g0210	1	378	0.0027	-56	c.305 others(73): Show c.305-2401_305-2346delGCCGAGGGGCCGCCGCGTCTCTGTCCTC GCCGAGGGGGCGCCGCGTCTCTGTCCTC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar
ERICH1_chr8_659200_736224	700179	AGGCCCGC others(49): Show AGGCCCGCACACGCGCACAGGCCGGCACAGGCGCACACACCCGCACACGC GCACAGG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01496.hp2 NA18942.hp2 others(4): Show HG01261.hp1 HG01496.hp2 NA18942.hp2 NA18989.hp2 NA18992.hp2 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0034 a0001c0001t0001g0072 a0001c0001t0001g0142 a0001c0002t0001g0014	7	378	0.0185	-56	c.170 others(73): Show c.170-7623_170-7568delCCTGTGCGCGTGTGCGGGTGTGTGCGCC TGTGCCGGCCTGTGCGCGTGTGCGGGCC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(49): Show CTATATATATATATATATATATATATATGTATATATATATATATATATAT ATATGTA	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01928.hp1 HG02273.hp2 others(4): Show HG00733.hp2 HG01928.hp1 HG02273.hp2 HG02735.hp2 HG03225.hp1 HG03492.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0362 others(4): Show a0001c0001t0001g0238 a0001c0001t0001g0256 a0001c0001t0001g0362 a0001c0001t0002g0221 a0001c0001t0002g0271 a0001c0001t0002g0341 a0001c0001t0002g0355	7	442	0.0158	-56	c.58+ others(71): Show c.58+8759_58+8814delGTATATATATATATATATATATATATATAT GTATATATATATATATATATATATAT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245467	CACGTATA others(49): Show CACGTATATATATACGTATATATATACACGTATATATATATGTGTGTATG TATGTGT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03516.hp2 HG02451.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0051 a0001c0001t0005 a0001c0001t0051	a0001c0001t0005g0272 a0001c0001t0051g0109 a0001c0001t0005g0272 a0001c0001t0051g0109	2	396	0.0051	-56	c.432 others(73): Show c.432-2028_432-1973delACACATACATACACACATATATATATAC GTGTATATATATACGTATATATATACGT		ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15						chr1	TogoVar
ERVH48-1_chr21_42911803_42930630	42921693	TGGGTGCT others(49): Show TGGGTGCTGTCTCTAAAACCTTGAGGTAGTAGGCACCAGTGAGCTGATGT GAAAGGC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0111 a0001c0001t0035g0111	1	420	0.0024	-56	c.-28 others(75): Show c.-285-2458_-285-2403delGCCTTTCACATCAGCTCACTGGTGCC TACTACCTCAAGGTTTTAGAGACAGCACCC		ERVH48-1	ENSG00000233056.4	transcript	ENST00000447535.2	protein_coding	1/1						chr21	TogoVar
ESPNL_chr2_238095340_238138287	238098563	AGGACTGC others(49): Show AGGACTGCCCACATGGGACCGCCCACATAGGACCGCCCACATAGGACCGC CCACATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0001 a0017c0040t0001	a0017c0040t0001g0211 a0017c0040t0001g0211	1	408	0.0025	-56	c.-18 others(67): Show c.-1856_-1801delGGACTGCCCACATGGGACCGCCCACATAGGACCG CCCACATAGGACCGCCCACATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding					1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118353	TGGAGGAG others(49): Show TGGAGGAGGAATGGATGGAGGAGGTGGATGGAGAAGGGTGGATGGAAGAG GGTGGAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(41): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG01496.hp2 HG01993.hp2 HG02015.hp1 HG02083.hp1 HG02109.hp2 HG02145.hp2 HG02486.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG06807.hp1 NA18612.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18947.hp2 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18985.hp1 NA18998.hp1 NA18999.hp2 NA19007.hp1 NA19009.hp2 NA19030.hp1 NA19064.hp1 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0030 a0042	a0001c0012 a0001c0016 a0002c0058 others(14): Show a0001c0012 a0001c0016 a0002c0058 a0002c0066 a0002c0081 a0002c0098 a0002c0118 a0003c0009 a0003c0044 a0003c0082 a0003c0097 a0003c0119 a0004c0083 a0005c0027 a0006c0045 a0030c0095 a0042c0080	a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 others(17): Show a0001c0012t0003 a0001c0012t0006 a0001c0016t0004 a0002c0058t0005 a0002c0066t0007 a0002c0081t0005 a0002c0098t0002 a0002c0118t0007 a0003c0009t0006 a0003c0009t0021 a0003c0044t0006 a0003c0082t0006 a0003c0097t0017 a0003c0119t0012 a0004c0083t0005 a0005c0027t0001 a0005c0027t0022 a0006c0045t0003 a0030c0095t0006 a0042c0080t0006	a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 others(36): Show a0001c0012t0003g0017 a0001c0012t0003g0045 a0001c0012t0003g0046 a0001c0012t0003g0048 a0001c0012t0003g0049 a0001c0012t0006g0023 a0001c0012t0006g0079 a0001c0016t0004g0007 a0001c0016t0004g0022 a0001c0016t0004g0080 a0001c0016t0004g0081 a0002c0058t0005g0321 a0002c0066t0007g0163 a0002c0081t0005g0023 a0002c0098t0002g0254 a0002c0118t0007g0153 a0003c0009t0006g0006 a0003c0009t0006g0056 a0003c0009t0006g0057 a0003c0009t0006g0058 a0003c0009t0006g0059 a0003c0009t0006g0060 a0003c0009t0006g0062 a0003c0009t0021g0077 a0003c0044t0006g0078 a0003c0044t0006g0084 a0003c0082t0006g0083 a0003c0097t0017g0270 a0003c0119t0012g0160 a0004c0083t0005g0019 a0005c0027t0001g0006 a0005c0027t0001g0018 a0005c0027t0001g0047 a0005c0027t0001g0082 a0005c0027t0022g0018 a0006c0045t0003g0204 a0006c0045t0003g0205 a0030c0095t0006g0196 a0042c0080t0006g0019	44	408	0.1078	-56	c.987 others(73): Show c.987+1328_987+1383delAATGGATGGAGGAGGTGGATGGAGAAGG GTGGATGGAAGAGGGTGGACGGAGGAGG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238118741	TTGCAGGA others(49): Show TTGCAGGAGGATGGATGGAGGAGGGTGGATGGAGGAGGGGAGATGGAGGA GGGTGGA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00558.hp1 HG01109.hp1 others(19): Show HG00140.hp2 HG00558.hp1 HG01109.hp1 HG01175.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02602.hp1 HG03239.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp1 NA18948.hp2 NA18954.hp2 NA18997.hp2 NA18998.hp2 NA19009.hp1 NA19054.hp1 NA19055.hp1 NA19056.hp1 NA19063.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0008 a0010 a0018 a0021	a0001c0005 a0001c0008 a0002c0004 others(9): Show a0001c0005 a0001c0008 a0002c0004 a0002c0091 a0003c0010 a0003c0029 a0004c0017 a0005c0007 a0008c0090 a0010c0088 a0018c0077 a0021c0076	a0001c0005t0003 a0001c0005t0023 a0001c0008t0003 others(12): Show a0001c0005t0003 a0001c0005t0023 a0001c0008t0003 a0001c0008t0004 a0002c0004t0002 a0002c0091t0002 a0003c0010t0001 a0003c0010t0019 a0003c0029t0001 a0004c0017t0005 a0005c0007t0001 a0008c0090t0001 a0010c0088t0006 a0018c0077t0005 a0021c0076t0001	a0001c0005t0003g0197 a0001c0005t0023g0064 a0001c0008t0003g0076 others(19): Show a0001c0005t0003g0197 a0001c0005t0023g0064 a0001c0008t0003g0076 a0001c0008t0004g0061 a0001c0008t0004g0067 a0001c0008t0004g0068 a0002c0004t0002g0066 a0002c0091t0002g0063 a0003c0010t0001g0020 a0003c0010t0001g0021 a0003c0010t0001g0075 a0003c0010t0019g0021 a0003c0029t0001g0192 a0004c0017t0005g0070 a0005c0007t0001g0020 a0005c0007t0001g0065 a0005c0007t0001g0074 a0005c0007t0001g0086 a0008c0090t0001g0073 a0010c0088t0006g0069 a0018c0077t0005g0071 a0021c0076t0001g0072	22	408	0.0539	-56	c.987 others(73): Show c.987+1710_987+1765delCAGGAGGATGGATGGAGGAGGGTGGATG GAGGAGGGGAGATGGAGGAGGGTGGATG		ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr2	TogoVar
ETNPPL_chr4_108737053_108768053	108747138	ATATATAT others(49): Show ATATATATATAATATATATATATATATTATATATATATATATAATATATA TATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01256.hp1 HG02148.hp1 others(5): Show HG00738.hp2 HG01256.hp1 HG02148.hp1 HG03130.hp2 HG03225.hp2 HG03239.hp2 NA19058.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0004c0011 a0001c0001 a0001c0003 a0004c0011	a0001c0001t0001 a0001c0003t0001 a0004c0011t0001 a0001c0001t0001 a0001c0003t0001 a0004c0011t0001	a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0205 others(5): Show a0001c0001t0001g0132 a0001c0001t0001g0155 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0324 a0001c0003t0001g0106 a0001c0003t0001g0113 a0004c0011t0001g0204	8	378	0.0212	-56	c.108 others(73): Show c.1083-343_1083-288delATATATATATATATTATATATATATATA TAATATATATATATATATTATATATATA		ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12						chr4	TogoVar
ETS2_chr21_38800929_38829955	38815986	GGAAGGAA others(49): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAGGGAGGGAGGGAAGGAAGGAAGG AAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18906.hp1 HG00140.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0003 a0001c0002t0006	a0001c0002t0003g0145 a0001c0002t0006g0337 a0001c0002t0003g0145 a0001c0002t0006g0337	2	426	0.0047	-56	c.505 others(72): Show c.505+1008_506-964delAGGAAGGAAGGAAGGAAGGAAGGAGGGAG GGAGGGAAGGAAGGAAGGAAAGAAAGA		ETS2	ENSG00000157557.13	transcript	ENST00000360938.8	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr21	TogoVar

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