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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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
ERC2_chr3_55503311_56473467	55691562	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02040.hp1 HG02486.hp2 others(5): Show HG01167.hp1 HG02040.hp1 HG02486.hp2 HG02922.hp1 HG03225.hp1 HG03710.hp2 HG06807.hp2 NA20752.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0003 a0001c0002t0004 a0001c0004t0001 a0004c0005t0003	a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0001t0002g0057 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0001t0002g0057 a0001c0001t0011g0047 a0001c0002t0003g0018 a0001c0002t0004g0001 a0001c0004t0001g0031 a0004c0005t0003g0065	8	74	0.1081	-13	c.284 others(32): Show c.2848-7716_2848-7704delATTTTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55691564	AAAAAAAA others(6): Show AAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 NA19240.hp2 HG01069.hp1 HG01071.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0029 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0002g0029	3	74	0.0405	-13	c.284 others(32): Show c.2848-7718_2848-7706delATATTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55691566	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	74	0.0135	-13	c.284 others(32): Show c.2848-7720_2848-7708delATATATTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	16/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720220	CTTCTTCT others(6): Show CTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	74	0.0135	-13	c.271 others(34): Show c.2712+14538_2712+14550delAGAAGAAGAAGAA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55720230	TTCTTCTT others(6): Show TTCTTCTTCTTCTC	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	74	0.0135	-13	c.271 others(34): Show c.2712+14528_2712+14540delGAGAAGAAGAAGA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55954081	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	74	0.0135	-13	c.226 others(32): Show c.2268-3534_2268-3522delTTTTTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	55982568	TTGTTATC others(6): Show TTGTTATCAACCTA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01099.hp2 others(15): Show HG01069.hp1 HG01071.hp1 HG01099.hp2 HG01109.hp1 HG01169.hp2 HG01346.hp2 HG02040.hp1 HG02145.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02738.hp2 HG03130.hp2 HG03710.hp2 HG03831.hp2 NA19043.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0005 a0001c0001 a0001c0002 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0004 a0004c0005t0003	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0035 others(15): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0002g0049 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0003g0051 a0001c0001t0003g0070 a0001c0001t0004g0022 a0001c0001t0007g0002 a0001c0001t0011g0047 a0001c0002t0001g0067 a0001c0002t0004g0001 a0004c0005t0003g0065	18	74	0.2432	-13	c.226 others(32): Show c.2267+3396_2267+3408delTAGGTTGATAACA		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56033017	AAGAAAAA others(6): Show AAGAAAAAAGAAAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02145.hp1 HG02040.hp1 HG02145.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0003 a0001c0001t0001 a0004c0005t0003	a0001c0001t0001g0050 a0004c0005t0003g0065 a0001c0001t0001g0050 a0004c0005t0003g0065	2	74	0.0270	-13	c.164 others(34): Show c.1642-13999_1642-13987delGTTTCTTTTTTCT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56186114	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp2 HG01167.hp1 others(14): Show HG00741.hp2 HG01069.hp2 HG01167.hp1 HG01934.hp1 HG02040.hp2 HG02647.hp1 HG02965.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG06807.hp1 NA18962.hp1 NA19030.hp1 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0003c0006t0004	a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0001t0002g0005 others(14): Show a0001c0001t0001g0004 a0001c0001t0001g0061 a0001c0001t0002g0005 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0040 a0001c0001t0002g0054 a0001c0001t0002g0072 a0001c0001t0003g0068 a0001c0001t0005g0053 a0001c0001t0005g0071 a0001c0001t0007g0002 a0001c0001t0007g0024 a0001c0001t0008g0030 a0001c0001t0009g0073 a0001c0001t0012g0023 a0003c0006t0004g0060	17	74	0.2297	-13	c.107 others(34): Show c.1075-12607_1075-12595delTTTTTTTTTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	3/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56377858	AAAAAACA others(6): Show AAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02486.hp2 HG03098.hp2 others(2): Show HG01099.hp2 HG02486.hp2 HG03098.hp2 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0002t0001g0017 a0001c0002t0001g0067 a0001c0002t0002g0016 others(2): Show a0001c0002t0001g0017 a0001c0002t0001g0067 a0001c0002t0002g0016 a0001c0002t0003g0018 a0001c0002t0004g0001	5	74	0.0676	-13	c.657 others(32): Show c.657+56480_657+56492delGTTTTTTGTTTTT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC3_chr2_127252290_127299144	127272007	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	350	0.0029	-13	c.182 others(30): Show c.1828-567_1828-555delAAAAAAAAAAAAA		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding	11/14						chr2	TogoVar
ERCC3_chr2_127252290_127299144	127295967	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	350	0.0029	-13	c.-18 others(24): Show c.-1899_-1887delTTTTTTTTTTTTT		ERCC3	ENSG00000163161.14	transcript	ENST00000285398.7	protein_coding					1824		chr2	TogoVar
ERCC6_chr10_49449470_49544121	49484279	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp1 HG02615.hp2 others(3): Show HG01069.hp2 HG01123.hp1 HG02615.hp2 HG02886.hp2 HG02922.hp2 HG03098.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0008 a0006c0010t0008	a0006c0010t0008g0114 a0006c0010t0008g0115 a0006c0010t0008g0117 others(3): Show a0006c0010t0008g0114 a0006c0010t0008g0115 a0006c0010t0008g0117 a0006c0010t0008g0118 a0006c0010t0008g0119 a0006c0010t0008g0154	6	388	0.0155	-13	c.182 others(30): Show c.1822-776_1822-764delCTTTTTTTTTTTT		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	8/20						chr10	TogoVar
ERCC8_chr5_60861454_60950070	60870482	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02559.hp2 HG02572.hp2 HG03540.hp1 HG02559.hp2 HG02572.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0044 a0001c0002t0032 a0001c0001t0044 a0001c0002t0032	a0001c0001t0044g0179 a0001c0002t0032g0063 a0001c0002t0032g0067 a0001c0001t0044g0179 a0001c0002t0032g0063 a0001c0002t0032g0067	3	302	0.0099	-13	c.41 others(24): Show c.4120_*4132delTTTTTTTTTTTTT		ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	12/12				4120		chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908315	GGGGAGAG others(6): Show GGGGAGAGAGGGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	334	0.0030	-13	c.156 others(30): Show c.156-1348_156-1336delAGAGAGGGGAGGG		ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38418938	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01361.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG01361.hp2 HG02895.hp1 HG03098.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0002t0012	a0001c0001t0001g0259 a0001c0001t0002g0141 a0001c0001t0002g0142 others(4): Show a0001c0001t0001g0259 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0011g0279 a0001c0002t0012g0181 a0001c0002t0012g0228 a0001c0002t0012g0294	7	360	0.0194	-13	c.388 others(30): Show c.388+4459_388+4471delCTTTTTTTTTTTT		ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9						chr21	TogoVar
ERH_chr14_69375128_69403299	69391654	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp1 others(2): Show HG02559.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071	5	398	0.0126	-13	c.91+ others(28): Show c.91+3158_91+3170delTTTTTTTTTTTTT		ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding	2/3						chr14	TogoVar
ERI1_chr8_8997897_9038338	9007932	ATCCTTTT others(6): Show ATCCTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA19001.hp1 NA18940.hp1 NA19001.hp1	a0000 a0001 a0000 a0001	a0000c0001 a0001c0004 a0000c0001 a0001c0004	a0000c0001t0001 a0001c0004t0010 a0000c0001t0001 a0001c0004t0010	a0000c0001t0001g0256 a0001c0004t0010g0224 a0000c0001t0001g0256 a0001c0004t0010g0224	2	426	0.0047	-13	c.109 others(26): Show c.109-36_109-24delCCTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9007935	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	splice_region_variant others(1): Show splice_region_variant intron_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0079 a0001c0002t0015g0079	1	426	0.0024	-13	c.109 others(25): Show c.109-18_109-6delTTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI1_chr8_8997897_9038338	9023793	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01934.hp2 HG01099.hp1 HG01934.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0340 a0002c0003t0002g0343 a0002c0003t0002g0340 a0002c0003t0002g0343	2	426	0.0047	-13	c.807 others(30): Show c.807+3340_807+3352delTTTTTTTTTTTTT		ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44342847	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	340	0.0029	-13	c.212 others(30): Show c.212-3538_212-3526delAAATATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342849	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0236 a0001c0001t0001g0236	1	340	0.0029	-13	c.212 others(30): Show c.212-3540_212-3528delAAAAATATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342851	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	340	0.0029	-13	c.212 others(30): Show c.212-3542_212-3530delAAAAAAATATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342853	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	340	0.0029	-13	c.212 others(30): Show c.212-3544_212-3532delAAAAAAAAATATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342855	ATATTTTT others(6): Show ATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	340	0.0029	-13	c.212 others(30): Show c.212-3546_212-3534delAAAAAAAAAAATA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERI3_chr1_44216070_44360257	44342857	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	340	0.0029	-13	c.212 others(30): Show c.212-3548_212-3536delAAAAAAAAAAAAA		ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8						chr1	TogoVar
ERICH1_chr8_659200_736224	708681	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01891.hp2 others(4): Show HG01257.hp2 HG01258.hp2 HG01891.hp2 HG02257.hp1 HG03130.hp1 HG03239.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0002g0012	7	378	0.0185	-13	c.169 others(30): Show c.169+7167_169+7179delAAAAAAAAAAAAA		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
ERICH3_chr1_74563123_74678792	74654385	TATCCTAC others(6): Show TATCCTACAGTAGG	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02886.hp1 HG02109.hp2 HG02886.hp1	a0001 a0004 a0001 a0004	a0001c0025 a0004c0026 a0001c0025 a0004c0026	a0001c0025t0001 a0004c0026t0001 a0001c0025t0001 a0004c0026t0001	a0001c0025t0001g0139 a0004c0026t0001g0179 a0001c0025t0001g0139 a0004c0026t0001g0179	2	290	0.0069	-13	c.24- others(28): Show c.24-5083_24-5071delCCTACTGTAGGAT		ERICH3	ENSG00000178965.14	transcript	ENST00000326665.10	protein_coding	1/14						chr1	TogoVar
ERICH4_chr19_41438156_41449765	41448108	TTTGAGCA others(6): Show TTTGAGCAGGTGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	422	0.0024	-13	c.38 others(24): Show c.3885_*3897delTTGAGCAGGTGGA		ERICH4	ENSG00000204978.3	transcript	ENST00000378187.3	protein_coding					3344		chr19	TogoVar
ERICH5_chr8_98059568_98098609	98085136	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA18968.hp1 HG03098.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0357 a0001c0001t0002g0400 a0001c0001t0001g0357 a0001c0001t0002g0400	2	442	0.0045	-13	c.59- others(28): Show c.59-3910_59-3898delTTTTTTTTTTTTT		ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98090011	GAGGACCA others(6): Show GAGGACCAACGCAT	G G	frameshift_variant frameshift_variant	HIGH	HG01192.hp1 HG01192.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0002 a0011c0010t0002	a0011c0010t0002g0273 a0011c0010t0002g0273	1	442	0.0023	-13	c.995 others(21): Show c.995_1007delAGGACCAACGCAT	p.Glu others(5): Show p.Glu332fs	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/3	1097/1503	995/1125	332/374			chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45541723	TGAGCACG others(6): Show TGAGCACGGTGCCC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp2 HG02965.hp1 others(1): Show HG00639.hp1 HG01243.hp2 HG02965.hp1 HG03139.hp1	a0003 a0014 a0003 a0014	a0003c0042 a0014c0015 a0003c0042 a0014c0015	a0003c0042t0001 a0014c0015t0001 a0014c0015t0003 a0003c0042t0001 a0014c0015t0001 a0014c0015t0003	a0003c0042t0001g0212 a0014c0015t0001g0015 a0014c0015t0003g0017 a0003c0042t0001g0212 a0014c0015t0001g0015 a0014c0015t0003g0017	4	326	0.0123	-13	c.187 others(28): Show c.1873-56_1873-44delGGGCACCGTGCTC		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	14/14						chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45577276	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0306 a0006c0006t0002g0306	1	326	0.0031	-13	c.962 others(30): Show c.962-2359_962-2347delAAAAAAAAAAAAA		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	7/14						chr13	TogoVar
ERICH6B_chr13_45536294_45620739	45615715	GCGATCTC others(6): Show GCGATCTCAGGCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02965.hp1 NA19030.hp2 HG02965.hp1 NA19030.hp2	a0004 a0014 a0004 a0014	a0004c0030 a0014c0015 a0004c0030 a0014c0015	a0004c0030t0003 a0014c0015t0003 a0004c0030t0003 a0014c0015t0003	a0004c0030t0003g0016 a0014c0015t0003g0017 a0004c0030t0003g0016 a0014c0015t0003g0017	2	326	0.0061	-13	c.-15 others(22): Show c.-154_-142delGGGCCTGAGATCG		ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	1/15				18711		chr13	TogoVar
ERLIN1_chr10_100145094_100191029	100159600	GAAATCAA others(6): Show GAAATCAACAATAA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp2 others(30): Show HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00621.hp1 HG01516.hp2 HG01517.hp1 HG02055.hp2 HG02083.hp2 HG02258.hp1 HG02451.hp1 HG03579.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA18612.hp1 NA18940.hp2 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18963.hp2 NA18971.hp1 NA18972.hp2 NA18991.hp2 NA19004.hp2 NA19043.hp2 NA19065.hp1 NA19066.hp1 NA19078.hp2 NA19083.hp1 NA19084.hp1 NA19088.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 others(1): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0019	a0001c0001t0004g0011 a0001c0001t0004g0024 a0001c0001t0004g0051 others(18): Show a0001c0001t0004g0011 a0001c0001t0004g0024 a0001c0001t0004g0051 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0183 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0194 a0001c0001t0006g0015 a0001c0001t0006g0049 a0001c0001t0006g0050 a0001c0001t0006g0185 a0001c0001t0009g0186 a0001c0001t0009g0188 a0001c0001t0019g0184	33	386	0.0855	-13	c.656 others(30): Show c.656-3379_656-3367delTTATTGTTGATTT		ERLIN1	ENSG00000107566.14	transcript	ENST00000421367.7	protein_coding	8/10						chr10	TogoVar
ERLIN2_chr8_37731634_37763422	37755562	ACCCCCCA others(6): Show ACCCCCCACCCCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0069 a0001c0001t0032g0069	1	224	0.0045	-13	c.14 others(24): Show c.1454_*1466delACCCCCCCCCCCC		ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding	12/12				1454	INFO_REALIGN_3_PRIME	chr8	TogoVar
ERN1_chr17_64034142_64135144	64057383	TCTTGCTC others(6): Show TCTTGCTCTGTCGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(216): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18999.hp1 NA18999.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0018 a0001c0022 a0002c0008 a0002c0017 a0003c0019 a0003c0020 a0004c0012 a0005c0011 a0006c0010 a0007c0013 a0009c0015 a0010c0016 a0011c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(46): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0013 a0001c0002t0015 a0001c0002t0021 a0001c0002t0024 a0001c0002t0039 a0001c0003t0004 a0001c0003t0019 a0001c0005t0001 a0001c0006t0007 a0001c0006t0025 a0001c0007t0001 a0001c0009t0002 a0001c0018t0004 a0001c0022t0033 a0002c0008t0003 a0002c0008t0034 a0002c0017t0003 a0003c0019t0008 a0003c0020t0003 a0004c0012t0037 a0004c0012t0038 a0005c0011t0012 a0006c0010t0022 a0006c0010t0023 a0007c0013t0014 a0009c0015t0002 a0010c0016t0002 a0011c0023t0016	a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0002g0004 others(214): Show a0001c0001t0001g0045 a0001c0001t0001g0072 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0009 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0117 a0001c0001t0002g0125 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0193 a0001c0001t0002g0212 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0080 a0001c0001t0003g0105 a0001c0001t0003g0112 a0001c0001t0003g0115 a0001c0001t0003g0151 a0001c0001t0003g0162 a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0189 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0210 a0001c0001t0003g0225 a0001c0001t0009g0127 a0001c0001t0009g0128 a0001c0001t0009g0129 a0001c0001t0009g0130 a0001c0001t0009g0133 a0001c0001t0016g0077 a0001c0001t0017g0067 a0001c0001t0017g0087 a0001c0001t0020g0010 a0001c0001t0026g0114 a0001c0001t0027g0071 a0001c0001t0028g0161 a0001c0001t0029g0055 a0001c0001t0030g0182 a0001c0001t0031g0006 a0001c0001t0032g0098 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0023 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0043 a0001c0002t0001g0044 a0001c0002t0001g0046 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0082 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0101 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0134 a0001c0002t0001g0139 a0001c0002t0001g0156 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0195 a0001c0002t0001g0218 a0001c0002t0006g0028 a0001c0002t0006g0132 a0001c0002t0006g0167 a0001c0002t0006g0169 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0175 a0001c0002t0006g0176 a0001c0002t0006g0178 a0001c0002t0007g0180 a0001c0002t0007g0181 a0001c0002t0008g0166 a0001c0002t0008g0171 a0001c0002t0008g0177 a0001c0002t0008g0179 a0001c0002t0010g0213 a0001c0002t0010g0214 a0001c0002t0010g0215 a0001c0002t0010g0216 a0001c0002t0010g0217 a0001c0002t0011g0136 a0001c0002t0011g0137 a0001c0002t0011g0138 a0001c0002t0012g0135 a0001c0002t0013g0204 a0001c0002t0013g0206 a0001c0002t0015g0220 a0001c0002t0015g0221 a0001c0002t0021g0219 a0001c0002t0024g0142 a0001c0002t0039g0231 a0001c0003t0004g0002 a0001c0003t0004g0131 a0001c0003t0004g0143 a0001c0003t0004g0145 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0003t0004g0148 a0001c0003t0004g0149 a0001c0003t0004g0152 a0001c0003t0004g0153 a0001c0003t0004g0159 a0001c0003t0004g0160 a0001c0003t0004g0172 a0001c0003t0004g0208 a0001c0003t0004g0209 a0001c0003t0019g0207 a0001c0005t0001g0013 a0001c0005t0001g0047 a0001c0005t0001g0070 a0001c0005t0001g0075 a0001c0005t0001g0083 a0001c0005t0001g0111 a0001c0005t0001g0116 a0001c0006t0007g0102 a0001c0006t0007g0118 a0001c0006t0007g0119 a0001c0006t0007g0120 a0001c0006t0025g0113 a0001c0007t0001g0036 a0001c0007t0001g0037 a0001c0007t0001g0038 a0001c0007t0001g0039 a0001c0009t0002g0041 a0001c0009t0002g0062 a0001c0009t0002g0063 a0001c0018t0004g0144 a0001c0022t0033g0155 a0002c0008t0003g0096 a0002c0008t0003g0196 a0002c0008t0034g0188 a0002c0017t0003g0194 a0003c0019t0008g0154 a0003c0020t0003g0022 a0004c0012t0037g0229 a0004c0012t0038g0230 a0005c0011t0012g0017 a0005c0011t0012g0124 a0006c0010t0022g0122 a0006c0010t0023g0121 a0007c0013t0014g0157 a0007c0013t0014g0158 a0009c0015t0002g0058 a0010c0016t0002g0008 a0011c0023t0016g0051	219	234	0.9359	-13	c.139 others(30): Show c.1398+406_1398+418delGCGACAGAGCAAG		ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	12/21						chr17	TogoVar
ERN1_chr17_64034142_64135144	64106750	ACACACAC others(6): Show ACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02622.hp2 HG02257.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0127 a0001c0001t0009g0133 a0001c0001t0009g0127 a0001c0001t0009g0133	2	234	0.0086	-13	c.55- others(28): Show c.55-8522_55-8510delGTGTGTGTGTGTG		ERN1	ENSG00000178607.17	transcript	ENST00000433197.4	protein_coding	1/21						chr17	TogoVar
ERN2_chr16_23685310_23718222	23714212	AAGCCACC others(6): Show AAGCCACCGCGCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01081.hp1 HG01243.hp1 others(41): Show HG00741.hp1 HG01081.hp1 HG01243.hp1 HG01934.hp1 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02145.hp2 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp2 HG02717.hp1 HG02735.hp1 HG02922.hp2 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03486.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp2 NA18950.hp2 NA18981.hp2 NA18983.hp2 NA18992.hp1 NA19002.hp1 NA19009.hp1 NA19043.hp1 NA19240.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0003t0003	a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 others(31): Show a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0002c0002t0001g0004 a0002c0002t0001g0012 a0002c0002t0001g0052 a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0221 a0002c0002t0001g0223 a0002c0002t0001g0224 a0002c0002t0001g0232 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0002g0013 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0225 a0002c0002t0002g0226 a0002c0002t0002g0228 a0002c0002t0004g0231 a0002c0002t0006g0229 a0002c0003t0003g0211 a0002c0003t0003g0222 a0002c0003t0003g0333	44	412	0.1068	-13	c.-10 others(24): Show c.-1038_-1026delGGGCGCGGTGGCT		ERN2	ENSG00000134398.15	transcript	ENST00000256797.9	protein_coding					991		chr16	TogoVar
ERO1A_chr14_52634915_52700558	52692806	CCATTTTT others(6): Show CCATTTTTTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA19004.hp2 NA18988.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0365 a0001c0001t0003g0366 a0001c0001t0002g0365 a0001c0001t0003g0366	2	398	0.0050	-13	c.114 others(30): Show c.114+2549_114+2561delAAGAAAAAAAATG		ERO1A	ENSG00000197930.13	transcript	ENST00000395686.8	protein_coding	1/15						chr14	TogoVar
ERP44_chr9_99974185_100104000	100048192	GGATAGCA others(6): Show GGATAGCATTAGGA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0071 a0001c0001t0013g0071	1	220	0.0046	-13	c.286 others(30): Show c.286+4212_286+4224delTCCTAATGCTATC		ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11						chr9	TogoVar
ERV3-1_chr7_64985356_65011687	65010631	TTATAAAG others(6): Show TTATAAAGTTAAAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0010 a0004c0004t0003g0010	1	458	0.0022	-13	c.-44 others(24): Show c.-4492_-4480delGTTTAACTTTATA		ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding					3945		chr7	TogoVar
ERVFRD-1_chr6_11097489_11116725	11116008	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0046 a0001c0001t0004g0046	1	426	0.0024	-13	c.-46 others(24): Show c.-4665_-4653delAAAAAAAAAAAAA		ERVFRD-1	ENSG00000244476.3	transcript	ENST00000472091.2	protein_coding					4284		chr6	TogoVar
ERVV-1_chr19_53008921_53021123	53012206	GCCTGTAA others(6): Show GCCTGTAATAGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01081.hp1 HG01106.hp1 others(34): Show HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01192.hp2 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02004.hp1 HG02145.hp2 HG02698.hp1 HG03017.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18944.hp2 NA19009.hp2 NA19060.hp1 NA19086.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0014 a0003c0003 others(1): Show a0001c0001 a0001c0014 a0003c0003 a0005c0007	a0001c0001t0001 a0001c0014t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0001c0014t0001 a0003c0003t0001 a0003c0003t0010 a0005c0007t0006	a0001c0001t0001g0000 a0001c0014t0001g0000 a0003c0003t0001g0000 others(2): Show a0001c0001t0001g0000 a0001c0014t0001g0000 a0003c0003t0001g0000 a0003c0003t0010g0000 a0005c0007t0006g0000	37	404	0.0916	-13	c.-18 others(24): Show c.-1884_-1872delCCTGTAATAGCCC		ERVV-1	ENSG00000269526.2	transcript	ENST00000602168.2	protein_coding					1714		chr19	TogoVar
ESAM_chr11_124748126_124767290	124763393	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	430	0.0023	-13	c.-12 others(24): Show c.-1252_-1240delTTTTTTTTTTTTT		ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding					1104		chr11	TogoVar
ESCO2_chr8_27769554_27810316	27802627	AAAAATAT others(6): Show AAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02148.hp2 HG00733.hp1 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0019 a0001c0001t0005 a0001c0001t0019	a0001c0001t0005g0135 a0001c0001t0019g0138 a0001c0001t0005g0135 a0001c0001t0019g0138	2	380	0.0053	-13	c.167 others(30): Show c.1674-677_1674-665delAAATATATATATA		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESCO2_chr8_27769554_27810316	27802643	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 NA20300.hp2 HG02965.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0038 a0001c0001t0026 a0001c0001t0038	a0001c0001t0026g0036 a0001c0001t0038g0036 a0001c0001t0026g0036 a0001c0001t0038g0036	2	380	0.0053	-13	c.167 others(30): Show c.1674-649_1674-637delTATATATATATAT		ESCO2	ENSG00000171320.15	transcript	ENST00000305188.13	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr8	TogoVar
ESF1_chr20_13709325_13789919	13716804	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02055.hp1 HG03579.hp2 others(13): Show HG01261.hp2 HG02055.hp1 HG03579.hp2 NA18952.hp2 NA18959.hp1 NA18967.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18985.hp2 NA18992.hp1 NA19043.hp2 NA19067.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(11): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0169 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0200 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0214	16	390	0.0410	-13	c.226 others(30): Show c.2262+551_2262+563delAAAAAAAAAAAAA		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13						chr20	TogoVar
ESF1_chr20_13709325_13789919	13731531	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	390	0.0026	-13	c.195 others(32): Show c.1950+2177_1950+2189delTTTTTTTTTTTTT		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	10/13						chr20	TogoVar
ESF1_chr20_13709325_13789919	13749232	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02257.hp2 HG02258.hp2 others(18): Show HG00741.hp2 HG02257.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG03209.hp1 HG03225.hp2 HG03704.hp2 NA18970.hp2 NA18980.hp2 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0007t0002	a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 others(16): Show a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0004g0009 a0001c0001t0004g0121 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0005g0119 a0001c0001t0005g0120 a0001c0007t0002g0015 a0001c0007t0002g0237	21	390	0.0539	-13	c.182 others(34): Show c.1828+10447_1828+10459delAAAAAAAAAAAAA		ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	9/13						chr20	TogoVar

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