Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ERC2_chr3_55503311_56473467	56023767	A A	AAAGGAAG others(21): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0025 a0002c0003t0003g0025	1	55	0.0182	28	c.164 others(47): Show c.1642-4737_1642-4736insCCTTCCTTCCTTCCTTCCTTCCTTCC TT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(21): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01099.hp2 HG02647.hp1 others(4): Show HG01069.hp2 HG01099.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG03710.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0002g0049 a0001c0001t0003g0051 others(4): Show a0001c0001t0001g0041 a0001c0001t0002g0049 a0001c0001t0003g0051 a0001c0001t0005g0053 a0001c0001t0007g0002 a0001c0001t0011g0047 a0001c0002t0001g0067	7	8	0.8750	28	c.164 others(47): Show c.1642-4771_1642-4744dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56032913	A A	AAGAAAGA others(21): Show AAGAAAGAAAGAAAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0068 a0001c0001t0003g0068	1	68	0.0147	28	c.164 others(49): Show c.1642-13883_1642-13882insGTCTCTCTCTCTCTCTTTCTTTCT TTCT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERCC1_chr19_45402334_45428917	45410565	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03098.hp1 HG02622.hp2 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0003 a0001c0001t0006	a0001c0001t0003g0161 a0001c0001t0006g0207 a0001c0001t0003g0161 a0001c0001t0006g0207	2	115	0.0174	28	c.844 others(43): Show c.844-868_844-841dupCACACACACACACACACACACACACACA	ERCC1	ENSG00000012061.17	transcript	ENST00000300853.8	protein_coding	9/9			chr19	TogoVar
ERCC6L2_chr9_95870691_96023447	95907826	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0214 a0001c0001t0019g0214	1	347	0.0029	28	c.788 others(43): Show c.788+558_788+585dupACACACACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907834	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02015.hp1 HG01106.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0093 a0002c0002t0003 a0002c0002t0093	a0002c0002t0003g0350 a0002c0002t0093g0304 a0002c0002t0003g0350 a0002c0002t0093g0304	2	284	0.0070	28	c.788 others(43): Show c.788+585_788+586insACACAAACACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907836	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01255.hp1 HG01433.hp1 others(25): Show HG00597.hp1 HG01255.hp1 HG01433.hp1 HG01496.hp2 HG01978.hp1 HG02004.hp1 HG02109.hp1 HG02132.hp1 HG02135.hp1 HG02723.hp2 HG02818.hp1 HG02976.hp1 HG03579.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp2 NA18940.hp2 NA18946.hp1 NA18947.hp1 NA18957.hp2 NA18989.hp1 NA18999.hp2 NA19011.hp1 NA19062.hp2 NA19091.hp1 NA20905.hp1	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0007 a0008 a0016 a0023	a0001c0001 a0002c0002 a0005c0006 others(4): Show a0001c0001 a0002c0002 a0005c0006 a0007c0008 a0008c0010 a0016c0018 a0023c0023	a0001c0001t0001 a0001c0001t0014 a0001c0001t0079 others(6): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0079 a0002c0002t0003 a0005c0006t0017 a0007c0008t0023 a0008c0010t0001 a0016c0018t0058 a0023c0023t0001	a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0034 others(23): Show a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0103 a0001c0001t0014g0001 a0001c0001t0079g0081 a0002c0002t0003g0355 a0005c0006t0017g0020 a0005c0006t0017g0021 a0005c0006t0017g0022 a0005c0006t0017g0023 a0007c0008t0023g0294 a0008c0010t0001g0049 a0008c0010t0001g0071 a0016c0018t0058g0336 a0023c0023t0001g0072	28	317	0.0883	28	c.788 others(43): Show c.788+585_788+586insACACACAAACACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERCC6L2_chr9_95870691_96023447	95907838	C C	CACACACA others(21): Show CACACACACACACACACACACACACACAA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG06807.hp2 others(1): Show HG02809.hp1 HG02965.hp1 HG06807.hp2 NA19240.hp1	a0001 a0011 a0001 a0011	a0001c0005 a0011c0009 a0001c0005 a0011c0009	a0001c0005t0062 a0001c0005t0064 a0011c0009t0034 a0001c0005t0062 a0001c0005t0064 a0011c0009t0034	a0001c0005t0062g0105 a0001c0005t0064g0106 a0011c0009t0034g0207 others(1): Show a0001c0005t0062g0105 a0001c0005t0064g0106 a0011c0009t0034g0207 a0011c0009t0034g0208	4	346	0.0116	28	c.788 others(43): Show c.788+585_788+586insACACACACAAACACACACACACACACAC	ERCC6L2	ENSG00000182150.19	transcript	ENST00000653738.2	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr9	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(21): Show ATATATATATATATATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0243 a0001c0001t0002g0243	1	130	0.0077	28	c.83- others(43): Show c.83-3096_83-3095insATATATATATATATGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(21): Show ATATATATATGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG03927.hp1 HG01071.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0278 a0001c0001t0002g0324 a0001c0001t0002g0278 a0001c0001t0002g0324	2	131	0.0153	28	c.83- others(43): Show c.83-3096_83-3095insATATATATGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATAT others(21): Show ATATATATGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02602.hp1 HG01192.hp2 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0230 a0001c0001t0001g0090 a0001c0001t0001g0230	2	131	0.0153	28	c.83- others(43): Show c.83-3096_83-3095insATATATGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893905	A A	ATATATGT others(21): Show ATATATGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02300.hp1 NA18953.hp1 others(2): Show HG02293.hp2 HG02300.hp1 NA18953.hp1 NA18999.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0075 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0185 a0001c0001t0001g0253	5	134	0.0373	28	c.83- others(43): Show c.83-3096_83-3095insATATGTGTGTGTGTGTGTGTGTGTGTGT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893935	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA18612.hp2 HG02647.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0081 a0001c0001t0003g0272 a0001c0001t0001g0081 a0001c0001t0003g0272	2	187	0.0107	28	c.83- others(43): Show c.83-3066_83-3065insGTGTGTGTGTGTGTGTGTGTGTGTATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172893939	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02129.hp2 NA18983.hp2 HG02129.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0255 a0001c0001t0002g0195 a0001c0001t0001g0255 a0001c0001t0002g0195	2	280	0.0071	28	c.83- others(43): Show c.83-3048_83-3047insATATATATATATGTATATATATATATAT	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(21): Show AGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19088.hp2 NA18951.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0236 a0001c0001t0001g0222 a0001c0001t0001g0236	2	255	0.0078	28	c.156 others(45): Show c.156-1332_156-1331insGAGAGAGGGGAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGAGGTGG others(21): Show GGAGGTGGGGGAGGAGGGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG01433.hp2 others(3): Show HG00609.hp2 HG01109.hp2 HG01433.hp2 HG02683.hp1 HG03942.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011	a0001c0001t0001g0214 a0001c0001t0001g0249 a0001c0001t0001g0257 others(3): Show a0001c0001t0001g0214 a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0002g0098 a0001c0001t0005g0105 a0001c0001t0011g0117	6	218	0.0275	28	c.156 others(45): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGAGGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908329	G G	GGAGGTGG others(21): Show GGAGGTGGGGGAGGAGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18967.hp2 NA18956.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0213 a0001c0001t0001g0100 a0001c0001t0001g0213	2	214	0.0093	28	c.156 others(45): Show c.156-1337_156-1336insAGGTGGGGGAGGAGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERG_chr21_38375036_38503477	38407634	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02809.hp1 HG03225.hp1 HG02723.hp1 HG02809.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0202 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0001g0202 a0001c0001t0001g0262 a0001c0001t0001g0270	3	59	0.0508	28	c.389 others(45): Show c.389-3926_389-3925insTATATATATATATATATATATATATATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	3/9			chr21	TogoVar
ERI1_chr8_8997897_9038338	9024407	C C	CTTTTCTT others(21): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0050 a0004c0008t0050	a0004c0008t0050g0275 a0004c0008t0050g0275	1	404	0.0025	28	c.807 others(45): Show c.807+3944_807+3945insTTTCTTTTCTTTTCTTTTCTTTTCTTTT	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44259875	C C	CTAGATAG others(21): Show CTAGATAGATAGATAGATAGATAGATAGA	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	218	0.0046	28	c.832 others(47): Show c.832-11865_832-11838dupTCTATCTATCTATCTATCTATCTATC TA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERICH1_chr8_659200_736224	675377	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0311 a0001c0003t0002g0311	1	290	0.0034	28	c.305 others(45): Show c.305-1358_305-1331dupGCCGAGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675680	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGGCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0285 a0002c0005t0002g0285	1	351	0.0028	28	c.305 others(45): Show c.305-1634_305-1633insGCCGAGGGGCCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675844	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGCCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0315 a0001c0003t0002g0315	1	369	0.0027	28	c.305 others(45): Show c.305-1798_305-1797insGCCGAGGGGGCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	676116	T T	TGAGGACA others(21): Show TGAGGACAGAGACGCGGCGGCCCCTCGGC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0121 a0001c0003t0001g0121	1	343	0.0029	28	c.305 others(45): Show c.305-2070_305-2069insGCCGAGGGGCCGCCGCGTCTCTGTCCTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700515	G G	GGCCCGCA others(21): Show GGCCCGCACACGCGCACAGGCCCGCACAC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02698.hp1 HG04184.hp1 others(1): Show HG01361.hp2 HG02698.hp1 HG04184.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0333 a0001c0002t0002g0336 a0001c0002t0002g0341 others(1): Show a0001c0002t0002g0333 a0001c0002t0002g0336 a0001c0002t0002g0341 a0001c0002t0005g0242	4	315	0.0127	28	c.170 others(45): Show c.170-7904_170-7903insGTGTGCGGGCCTGTGCGCGTGTGCGGGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTG others(21): Show GTTTTTTGTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02071.hp1 HG02135.hp1 HG01517.hp1 HG02071.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0260 a0001c0001t0002g0286 a0001c0001t0002g0287	3	134	0.0224	28	c.169 others(45): Show c.169+7179_169+7180insAAAAAAAAAAAAAAAAAAAAACAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH2_chr2_170765378_170803977	170767747	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	81	0.0123	28	c.-29 others(39): Show c.-2935_-2934insTATATATATATATATATATATATATATA	ERICH2	ENSG00000204334.8	transcript	ENST00000697325.1	protein_coding		2630		chr2	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CCTTTCTT others(21): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03540.hp2 HG01243.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0350 a0001c0001t0001g0065 a0001c0001t0001g0350	2	186	0.0108	28	c.101 others(47): Show c.1013-1302_1013-1301insTCTTTCTTTCTTTCTTTCTTTCTTTC TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCTTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 NA18991.hp1 HG03579.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0369 a0001c0001t0002g0177 a0001c0001t0002g0369	2	186	0.0108	28	c.101 others(47): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTTCCTTTCTTTCT TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00733.hp1 others(41): Show HG00280.hp1 HG00408.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02071.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02647.hp1 HG02895.hp1 HG03017.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03579.hp1 HG03654.hp2 HG03834.hp1 NA18944.hp2 NA18947.hp1 NA18957.hp1 NA18966.hp1 NA18982.hp2 NA19001.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19077.hp1 NA19085.hp1 NA20300.hp1	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0003c0003 a0008c0011 a0001c0001 a0003c0003 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0003c0003t0001 a0008c0011t0001	a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 others(40): Show a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0138 a0001c0001t0001g0182 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0266 a0001c0001t0001g0282 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0320 a0001c0001t0001g0326 a0001c0001t0001g0340 a0001c0001t0001g0351 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0387 a0001c0001t0001g0420 a0001c0001t0001g0428 a0001c0001t0002g0124 a0001c0001t0002g0135 a0001c0001t0002g0146 a0001c0001t0002g0174 a0001c0001t0002g0200 a0001c0001t0002g0204 a0001c0001t0002g0212 a0001c0001t0002g0224 a0001c0001t0002g0276 a0001c0001t0002g0301 a0001c0001t0002g0339 a0001c0001t0002g0386 a0003c0003t0001g0236 a0008c0011t0001g0129	44	105	0.4190	28	c.101 others(47): Show c.1013-1223_1013-1196dupCCTTCCTTCCTTCCTTCCTTCCTTCC TT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH6_chr3_150654885_150708920	150672264	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG01257.hp2 others(17): Show HG00673.hp2 HG01255.hp2 HG01257.hp2 HG01358.hp1 HG02055.hp1 HG02109.hp2 HG02155.hp1 HG02630.hp1 HG02818.hp1 HG02886.hp1 HG02922.hp1 HG02976.hp2 HG03453.hp1 HG03491.hp2 HG03669.hp2 HG04199.hp1 NA18906.hp1 NA18999.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0005 a0001c0014 others(5): Show a0001c0001 a0001c0005 a0001c0014 a0002c0002 a0002c0003 a0003c0004 a0004c0013 a0005c0008	a0001c0001t0001 a0001c0005t0002 a0001c0014t0001 others(5): Show a0001c0001t0001 a0001c0005t0002 a0001c0014t0001 a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0004c0013t0001 a0005c0008t0001	a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0090 others(16): Show a0001c0001t0001g0052 a0001c0001t0001g0064 a0001c0001t0001g0090 a0001c0001t0001g0112 a0001c0005t0002g0035 a0001c0005t0002g0045 a0001c0014t0001g0023 a0002c0002t0001g0237 a0002c0002t0001g0261 a0002c0002t0001g0273 a0002c0002t0001g0284 a0002c0003t0001g0008 a0002c0003t0001g0158 a0002c0003t0001g0160 a0003c0004t0001g0145 a0003c0004t0001g0172 a0003c0004t0001g0197 a0004c0013t0001g0315 a0005c0008t0001g0334	20	190	0.1053	28	c.134 others(47): Show c.1343+1691_1343+1692insATATATATATATATATATATATATAT AT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	11/13			chr3	TogoVar
ERICH6_chr3_150654885_150708920	150702919	T T	TCTGTGAG others(21): Show TCTGTGAGAGAGAGAGAGAGGGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG00438.hp1 others(60): Show HG00280.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG02040.hp1 HG02074.hp1 HG02083.hp2 HG02132.hp1 HG02155.hp1 HG02273.hp2 HG02523.hp1 HG02738.hp2 HG02895.hp2 HG03098.hp1 HG03453.hp1 HG03942.hp1 HG04204.hp2 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18943.hp2 NA18947.hp2 NA18951.hp1 NA18952.hp2 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp2 NA18974.hp2 NA18975.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp2 NA18991.hp1 NA18994.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp1 NA19003.hp1 NA19004.hp1 NA19010.hp2 NA19012.hp2 NA19063.hp1 NA19068.hp2 NA19072.hp1 NA19074.hp1 NA19078.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0011 a0015 a0018	a0001c0029 a0002c0002 a0003c0006 others(4): Show a0001c0029 a0002c0002 a0003c0006 a0006c0007 a0011c0032 a0015c0019 a0018c0034	a0001c0029t0001 a0002c0002t0001 a0002c0002t0002 others(6): Show a0001c0029t0001 a0002c0002t0001 a0002c0002t0002 a0003c0006t0001 a0003c0006t0002 a0006c0007t0001 a0011c0032t0001 a0015c0019t0001 a0018c0034t0002	a0001c0029t0001g0137 a0002c0002t0001g0012 a0002c0002t0001g0241 others(58): Show a0001c0029t0001g0137 a0002c0002t0001g0012 a0002c0002t0001g0241 a0002c0002t0001g0244 a0002c0002t0001g0245 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0002t0001g0249 a0002c0002t0001g0250 a0002c0002t0001g0251 a0002c0002t0001g0252 a0002c0002t0001g0254 a0002c0002t0001g0255 a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 a0002c0002t0001g0260 a0002c0002t0001g0261 a0002c0002t0001g0262 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0270 a0002c0002t0001g0271 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0274 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0282 a0002c0002t0001g0284 a0002c0002t0001g0285 a0002c0002t0001g0287 a0002c0002t0001g0290 a0002c0002t0001g0291 a0002c0002t0001g0292 a0002c0002t0001g0293 a0002c0002t0001g0297 a0002c0002t0001g0298 a0002c0002t0002g0281 a0002c0002t0002g0286 a0003c0006t0001g0264 a0003c0006t0001g0277 a0003c0006t0001g0283 a0003c0006t0001g0288 a0003c0006t0002g0258 a0003c0006t0002g0289 a0006c0007t0001g0013 a0006c0007t0001g0246 a0006c0007t0001g0253 a0006c0007t0001g0295 a0006c0007t0001g0296 a0011c0032t0001g0305 a0015c0019t0001g0014 a0018c0034t0002g0294	63	346	0.1821	28	c.403 others(43): Show c.403+576_403+577insTCTCTCTCCCTCTCTCTCTCTCTCACAG	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding	1/13			chr3	TogoVar
ERLIN2_chr8_37731634_37763422	37734461	C C	CAGGAAGG others(21): Show CAGGAAGGAAGGAAGGAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG03139.hp2 HG01934.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0050 a0001c0001t0005g0013 a0001c0001t0001g0050 a0001c0001t0005g0013	2	53	0.0377	28	c.-22 others(39): Show c.-2233_-2232insAGGAAGGAAGGAAGGAAGGAAGGAAGGA	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		2172		chr8	TogoVar
ERMAP_chr1_42812122_42849991	42848562	C C	CAACAACA others(21): Show CAACAACATCAACGGGAGGGAGGGAGGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	384	0.0026	28	c.53 others(39): Show c.5330_*5331insAACAACATCAACGGGAGGGAGGGAGGAA	ERMAP	ENSG00000164010.15	transcript	ENST00000372517.8	protein_coding		3572		chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245312	A A	ATATATAC others(21): Show ATATATACACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0011 a0003c0005t0011	a0003c0005t0011g0270 a0003c0005t0011g0270	1	389	0.0026	28	c.432 others(45): Show c.432-1818_432-1817insCGTATATATATACGTGTGTGTGTATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(21): Show ATATATATACACACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0014 a0003c0005t0014	a0003c0005t0014g0277 a0003c0005t0014g0277	1	372	0.0027	28	c.432 others(45): Show c.432-1847_432-1820dupCGTATATATATACGTGTGTGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245314	A A	ATATATAT others(21): Show ATATATATATATACACGTATATATATACG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0288 a0001c0001t0008g0288	1	372	0.0027	28	c.432 others(45): Show c.432-1820_432-1819insCGTATATATATACGTGTATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERP44_chr9_99974185_100104000	100061595	G G	GAAATATA others(21): Show GAAATATATATATTTATAGAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	218	0.0046	28	c.58- others(43): Show c.58-1451_58-1424dupATATATATTTCTATAAATATATATATTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01192.hp2 HG02080.hp1 others(2): Show HG00733.hp1 HG01192.hp2 HG02080.hp1 NA19030.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0149 others(2): Show a0001c0001t0001g0111 a0001c0001t0001g0132 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0171	5	71	0.0704	28	c.58- others(43): Show c.58-2904_58-2903insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100100725	C C	CATATATA others(21): Show CATATATAATATATATATTATATATACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp1 NA20805.hp2 HG00735.hp1 HG01975.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021	3	43	0.0698	28	c.-18 others(39): Show c.-1886_-1885insATGTATATATAATATATATATTATATAT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1726		chr9	TogoVar
ERP44_chr9_99974185_100104000	100100811	A A	AATATATA others(21): Show AATATATATATAATATATGTATATATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp1 HG03239.hp1 HG03927.hp2 HG02523.hp1 HG03239.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0045 a0001c0001t0002g0010 a0001c0001t0002g0038 a0001c0001t0002g0045	3	168	0.0179	28	c.-19 others(39): Show c.-1972_-1971insATTATATATACATATATTATATATATAT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1812		chr9	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03927.hp1 NA18993.hp2 HG03927.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0008t0001 a0001c0001t0001 a0001c0008t0001	a0001c0001t0001g0298 a0001c0008t0001g0312 a0001c0001t0001g0298 a0001c0008t0001g0312	2	10	0.2000	28	c.226 others(45): Show c.2262+536_2262+563dupAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPNL_chr2_238095340_238138287	238098563	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 NA19083.hp1 HG04228.hp1 NA19083.hp1	a0003 a0003	a0003c0009 a0003c0013 a0003c0009 a0003c0013	a0003c0009t0006 a0003c0013t0001 a0003c0009t0006 a0003c0013t0001	a0003c0009t0006g0056 a0003c0013t0001g0219 a0003c0009t0006g0056 a0003c0013t0001g0219	2	364	0.0055	28	c.-18 others(39): Show c.-1857_-1856insGGACCGCCCACATGGGACCGCCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1776		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098579	G G	GACCGCCC others(21): Show GACCGCCCACATGGGACCGCCCACATAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 NA19240.hp1 HG02258.hp2 NA19240.hp1	a0005 a0005	a0005c0007 a0005c0087 a0005c0007 a0005c0087	a0005c0007t0008 a0005c0087t0001 a0005c0007t0008 a0005c0087t0001	a0005c0007t0008g0050 a0005c0087t0001g0051 a0005c0007t0008g0050 a0005c0087t0001g0051	2	365	0.0055	28	c.-18 others(39): Show c.-1841_-1840insACCGCCCACATGGGACCGCCCACATAGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1760		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098581	C C	CCGCCCAC others(21): Show CCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0023 a0001c0012t0006g0023	1	274	0.0036	28	c.-18 others(39): Show c.-1839_-1838insCGCCCACATGGGACCGCCCACATGGGAA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1758		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098591	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0005 a0004c0003t0005	a0004c0003t0005g0287 a0004c0003t0005g0287	1	304	0.0033	28	c.-18 others(39): Show c.-1829_-1828insGGACCGCCCACATGGGACCGCCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1748		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGAACGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0005 a0005	a0005c0102 a0005c0102	a0005c0102t0001 a0005c0102t0001	a0005c0102t0001g0223 a0005c0102t0001g0223	1	211	0.0047	28	c.-18 others(39): Show c.-1815_-1814insGGACCGCCCACATGGGAACGCCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098605	A A	AGGACCGC others(21): Show AGGACCGCCCACATGGGACCGCCCACATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG02071.hp2 others(2): Show HG00408.hp2 HG00609.hp1 HG02071.hp2 NA18948.hp1 NA18949.hp1	a0003 a0038 a0003 a0038	a0003c0013 a0003c0036 a0038c0099 a0003c0013 a0003c0036 a0038c0099	a0003c0013t0001 a0003c0036t0006 a0038c0099t0003 a0003c0013t0001 a0003c0036t0006 a0038c0099t0003	a0003c0013t0001g0140 a0003c0013t0001g0225 a0003c0036t0006g0035 others(2): Show a0003c0013t0001g0140 a0003c0013t0001g0225 a0003c0036t0006g0035 a0003c0036t0006g0253 a0038c0099t0003g0257	5	215	0.0233	28	c.-18 others(39): Show c.-1815_-1814insGGACCGCCCACATGGGACCGCCCACATG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1734		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098609	C C	CCGCCCAC others(21): Show CCGCCCACATGGGACCGCCCACATGGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG02723.hp2 HG04199.hp1 others(3): Show HG00621.hp2 HG02723.hp2 HG04199.hp1 NA19057.hp2 NA19065.hp1 NA19079.hp1	a0002 a0003 a0029 others(1): Show a0002 a0003 a0029 a0042	a0002c0001 a0003c0009 a0003c0010 others(2): Show a0002c0001 a0003c0009 a0003c0010 a0029c0096 a0042c0080	a0002c0001t0002 a0003c0009t0006 a0003c0010t0019 others(2): Show a0002c0001t0002 a0003c0009t0006 a0003c0010t0019 a0029c0096t0001 a0042c0080t0006	a0002c0001t0002g0133 a0003c0009t0006g0055 a0003c0009t0006g0057 others(3): Show a0002c0001t0002g0133 a0003c0009t0006g0055 a0003c0009t0006g0057 a0003c0010t0019g0005 a0029c0096t0001g0210 a0042c0080t0006g0021	6	301	0.0199	28	c.-18 others(39): Show c.-1811_-1810insCGCCCACATGGGACCGCCCACATGGGAA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1730		chr2	TogoVar
ESPNL_chr2_238095340_238138287	238098619	G G	GGGACCGC others(21): Show GGGACCGCCCACATAGAACCGTCCACATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18944.hp2 NA18952.hp1 others(3): Show HG00597.hp1 NA18944.hp2 NA18952.hp1 NA18960.hp2 NA18962.hp2 NA18980.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0008 a0002c0004 a0001c0005 a0001c0008 a0002c0004	a0001c0005t0006 a0001c0008t0004 a0002c0004t0002 a0001c0005t0006 a0001c0008t0004 a0002c0004t0002	a0001c0005t0006g0090 a0001c0008t0004g0003 a0001c0008t0004g0093 others(3): Show a0001c0005t0006g0090 a0001c0008t0004g0003 a0001c0008t0004g0093 a0001c0008t0004g0101 a0002c0004t0002g0099 a0002c0004t0002g0105	6	366	0.0164	28	c.-18 others(39): Show c.-1801_-1800insGGACCGCCCACATAGAACCGTCCACATA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding		1720		chr2	TogoVar

Search by Variant

Search

Search Results