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

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(41): Show CATATATATATACATATATATATATATACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02257.hp1 HG01515.hp2 HG02257.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0042 a0002c0001t0002g0042	2	430	0.0047	48	c.253 others(63): Show c.253+739_253+740insACATATATATATATATACATATATACACAT ATATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(41): Show CATATATATATATATACATATATACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02647.hp1 HG01074.hp1 HG02647.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0002 a0002c0001t0001 a0002c0001t0002	a0002c0001t0001g0182 a0002c0001t0002g0183 a0002c0001t0001g0182 a0002c0001t0002g0183	2	430	0.0047	48	c.253 others(63): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATATATATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732132	G G	GTGTATAT others(41): Show GTGTATATATATATATATATATATATACACACATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0002 a0007c0013t0002	a0007c0013t0002g0069 a0007c0013t0002g0069	2	430	0.0047	48	c.253 others(63): Show c.253+741_253+742insGTATATATATATATATATATATATACACAC ATATATATACATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTR1_chr9_136396922_136415614	136403369	C C	CGGGGGAG others(41): Show CGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG04204.hp1 HG02809.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0168 a0001c0001t0001g0171	2	412	0.0049	48	c.120 others(65): Show c.1209-530_1209-483dupCGGCAAACCCCACCCCTTGCTCCCTGGG ACCCTGTCCCTTTCTCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403416	C C	CGGGGAAG others(41): Show CGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	412	0.0024	48	c.120 others(65): Show c.1209-577_1209-530dupCGGCAAACCCCACCCCTTGCTCCCAGGA ACCCTGTCCCTTTCTTCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
EPAS1_chr2_46292407_46391697	46310214	A A	ACTTTGTC others(41): Show ACTTTGTCCCCCTCATTATTTGATAAGGTTCTCTTTCTGATGGTAAAGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0043 a0002c0002t0043	a0002c0002t0043g0037 a0002c0002t0043g0037	1	326	0.0031	48	c.26+ others(65): Show c.26+12305_26+12352dupTTCTCTTTCTGATGGTAAAGCCTTTGTC CCCCTCATTATTTGATAAGG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0229 a0001c0001t0002g0229	1	312	0.0032	48	c.-8+ others(65): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(41): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0223 a0001c0002t0003g0224 a0001c0002t0003g0223 a0001c0002t0003g0224	2	312	0.0064	48	c.468 others(65): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG03540.hp1 HG00642.hp1 HG03540.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0064 a0002c0006t0002g0199 a0002c0006t0002g0064 a0002c0006t0002g0199	2	200	0.0100	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03540.hp2 HG02572.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0012 a0002c0002t0004g0154 a0001c0001t0001g0012 a0002c0002t0004g0154	2	200	0.0100	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp1 others(1): Show HG00323.hp2 HG01070.hp1 HG01071.hp1 HG02735.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0004	a0001c0001t0001g0192 a0002c0002t0004g0177 a0002c0002t0004g0178 others(1): Show a0001c0001t0001g0192 a0002c0002t0004g0177 a0002c0002t0004g0178 a0002c0002t0004g0195	4	200	0.0200	48	c.154 others(65): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221566956	G G	GAGAAGGA others(41): Show GAGAAGGAGAAGGAGAAGGGGAAGAGGAAGAGGAAGAAGAAGAAGAAGA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG04184.hp1 HG01243.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0211 a0001c0001t0014g0213 a0001c0001t0001g0211 a0001c0001t0014g0213	2	294	0.0068	48	c.159 others(65): Show c.159+1761_159+1762insTCTTCTTCTTCTTCTTCCTCTTCCTCTT CCCCTTCTCCTTCTCCTTCT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHB3_chr3_184556785_184587408	184586192	C C	CCCCGCCC others(41): Show CCCCGCCCATCTTCGAGTGCCTCAGGCCCAGGACCCTCACCAGGTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0001 a0001c0001t0004g0001	1	358	0.0028	48	c.45 others(59): Show c.4570_*4571insCCCGCCCATCTTCGAGTGCCTCAGGCCCAGGACC CTCACCAGGTCCCT	EPHB3	ENSG00000182580.3	transcript	ENST00000330394.3	protein_coding		3785		chr3	TogoVar
EPPK1_chr8_143852324_143883467	143878404	G G	GCCGCACC others(41): Show GCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0233 a0233	a0233c0142 a0233c0142	a0233c0142t0002 a0233c0142t0002	a0233c0142t0002g0030 a0233c0142t0002g0030	1	424	0.0024	48	c.-46 others(61): Show c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGG GTGCGGGCAGGTGCGG	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding	1/1			chr8	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0258	1	358	0.0028	48	c.432 others(65): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS15_chr1_51349263_51524266	51508234	A A	AAAAGAAA others(41): Show AAAAGAAAAGAAAAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0032 a0001c0002t0017g0032	1	152	0.0066	48	c.33+ others(65): Show c.33+10964_33+10965insCTCTCTCTCTCTCTCTCTCTCTCTTTCT CTCTTTCTTTTCTTTTCTTT	EPS15	ENSG00000085832.18	transcript	ENST00000371733.8	protein_coding	1/24			chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(41): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0250 a0001c0002t0003g0250	1	352	0.0028	48	c.657 others(63): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB3_chr12_56075165_56108505	56075830	A A	AGGGGCTG others(41): Show AGGGGCTGAACCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18946.hp2 HG00423.hp2 NA18946.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0233 a0003c0004t0008g0234 a0003c0004t0008g0233 a0003c0004t0008g0234	2	392	0.0051	48	c.-44 others(59): Show c.-4471_-4470insGGGGCTGAACCCCCACCTCCCTCCCGGATGGGGC GGCTGGCCGGGCGG	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4334		chr12	TogoVar
ERBB4_chr2_211370717_212543802	211538127	T T	TCTTTGAA others(41): Show TCTTTGAAACATAATCAGATCATAGAATCTTAAATTTAAAATGTACTTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02615.hp2 others(5): Show HG02145.hp1 HG02258.hp1 HG02615.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG03486.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0020 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001	a0001c0001t0002g0024 a0001c0001t0007g0043 a0001c0001t0014g0007 others(5): Show a0001c0001t0002g0024 a0001c0001t0007g0043 a0001c0001t0014g0007 a0001c0001t0020g0028 a0001c0001t0023g0012 a0001c0001t0028g0053 a0001c0002t0001g0020 a0001c0002t0001g0048	8	56	0.1429	48	c.248 others(69): Show c.2487+23775_2487+23776insTAAGTACATTTTAAATTTAAGATT CTATGATCTGATTATGTTTCAAAG	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003112	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0002 a0001c0001t0019g0002	1	56	0.0179	48	c.235 others(67): Show c.235-55497_235-55496insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212003112	A A	AGAAAGAA others(41): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01243.hp2 HG01069.hp1 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0030 a0001c0002t0001 a0001c0001t0030 a0001c0002t0001	a0001c0001t0030g0056 a0001c0002t0001g0037 a0001c0001t0030g0056 a0001c0002t0001g0037	2	56	0.0357	48	c.235 others(67): Show c.235-55497_235-55496insCTTCCTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTC	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018487	T T	TATAATAT others(41): Show TATAATATATATTATATAATATATATTATATAATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 homoSapiens_chm13v2.hp1 HG03471.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0112 a0001c0001t0001g0066 a0001c0001t0001g0112	2	306	0.0065	48	c.534 others(65): Show c.534-2835_534-2834insATAATATATATTATATAATATATATTAT ATAATATATATTATATAATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25			chr5	TogoVar
ERC1_chr12_986223_1500931	1121779	A A	ATCTCTAT others(41): Show ATCTCTATCTCTATCTCTATCTATCTCTATCTCTATCTCTATCTCTATC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0078 a0002c0002t0078	a0002c0002t0078g0128 a0002c0002t0078g0128	1	162	0.0062	48	c.156 others(67): Show c.1569+5749_1569+5750insCTATCTCTATCTCTATCTATCTCTAT CTCTATCTCTATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1121947	A A	ATCTCTAT others(41): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG01891.hp2 HG02622.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0038 a0002c0002t0048 a0002c0002t0038 a0002c0002t0048	a0002c0002t0038g0082 a0002c0002t0048g0070 a0002c0002t0038g0082 a0002c0002t0048g0070	2	162	0.0124	48	c.156 others(67): Show c.1569+5923_1569+5924insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122017	A A	ATCTCTAT others(41): Show ATCTCTATCTGTGTCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA20129.hp2 HG02257.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0022 a0001c0003t0046 a0001c0003t0022 a0001c0003t0046	a0001c0003t0022g0114 a0001c0003t0046g0088 a0001c0003t0022g0114 a0001c0003t0046g0088	2	162	0.0124	48	c.156 others(67): Show c.1569+5993_1569+5994insGTGTCTCTATCTCTATCTCTATCTCT ATCTCTATCTGTGTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122071	A A	ATCTGTGC others(41): Show ATCTGTGCCTATTGATATATCTGTATATATCTATCTAAATCTCTATCTC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG00738.hp1 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0056 a0001c0001t0003 a0001c0001t0056	a0001c0001t0003g0029 a0001c0001t0056g0085 a0001c0001t0003g0029 a0001c0001t0056g0085	2	162	0.0124	48	c.156 others(67): Show c.1569+6039_1569+6040insCTGTGCCTATTGATATATCTGTATAT ATCTATCTAAATCTCTATCTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122313	A A	ATCTCTAT others(41): Show ATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTCTATCTGTG	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0081 a0002c0002t0081	a0002c0002t0081g0123 a0002c0002t0081g0123	1	162	0.0062	48	c.156 others(67): Show c.1569+6307_1569+6308insCTATCTCTATCTCTATCTGTGTCTCT ATCTCTATCTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55799450	C C	CATATATA others(41): Show CATATATATATATATATATATGCCTTATATATATAAGGCATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	74	0.0135	48	c.256 others(69): Show c.2565-64533_2565-64532insATATATATATGCCTTATATATATA AGGCATATATATATATATATATAT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERFL_chr19_41902704_41933449	41914569	G G	GTCTCTCC others(41): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG02135.hp1 HG01070.hp1 HG01243.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0077 a0001c0001t0001g0094 a0001c0001t0001g0097	3	330	0.0091	48	c.-13 others(65): Show c.-13-1638_-13-1637insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914628	T T	TGTCTCTC others(41): Show TGTCTCTCCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	330	0.0030	48	c.-13 others(65): Show c.-13-1697_-13-1696insGGTGGAAGGGGAGGGAGAGACAGAGATG GTGGAAAGGGAGGGAGAGAC	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914629	G G	GTCTCTCC others(41): Show GTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCA	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	330	0.0030	48	c.-13 others(65): Show c.-13-1698_-13-1697insTGGTGGAAGGGGAGGGAGAGACAGAGAT GGTGGAAGGGGAGGGAGAGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERFL_chr19_41902704_41933449	41914649	T T	TTCCACCA others(41): Show TTCCACCATCTCTGTCTCTCCCTCCCCCTCCACCGTGTCTCCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	330	0.0030	48	c.-13 others(65): Show c.-13-1718_-13-1717insGGGGGAGGGAGACACGGTGGAGGGGGAG GGAGAGACAGAGATGGTGGA	ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5			chr19	TogoVar
ERGIC1_chr5_172829251_172957683	172908323	A A	AGAGGGGA others(41): Show AGAGGGGAGGGGGGGGAGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	334	0.0030	48	c.156 others(65): Show c.156-1343_156-1342insAGGGGAGGGGGGGGAGGGGGGGGAGGGG GGGGGGAGAGAGGGGAGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01261.hp1 HG01192.hp2 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0113 a0001c0001t0001g0090 a0001c0001t0001g0113	2	334	0.0060	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGAGGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGAGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	334	0.0030	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGAGGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGAGAGAGGGGAGGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	334	0.0030	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGAGAGAGGG GAGGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGAGG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	334	0.0030	48	c.156 others(65): Show c.156-1332_156-1331insGAGGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGAGGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908328	A A	AGGGGGGG others(41): Show AGGGGGGGGGAGGGGGGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	334	0.0030	48	c.156 others(65): Show c.156-1332_156-1331insGGAGGGGGGGGAGGGGGGGGGAGAGAGG GGAGGGGGGGGAGGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(41): Show AGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	334	0.0030	48	c.156 others(65): Show c.156-1325_156-1324insGGAGGGGGGGGGGAGAGAGGGGAGGGGG GGAGGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908336	A A	AGGGGGGG others(41): Show AGGGGGGGGGAGGGGGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAG	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0196 a0001c0001t0016g0196	1	334	0.0030	48	c.156 others(65): Show c.156-1325_156-1324insGGGAGGGGGGGGGGAGAGAGGGGAGGGG GGGAGGGGGGGGAGGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908341	G G	GGGGAGGG others(41): Show GGGGAGGGGGGGGGAGAGAGGGGAGGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	334	0.0030	48	c.156 others(65): Show c.156-1325_156-1324insGGAGGGGGGGGGAGAGAGGGGAGGGGGG GGAGGGGGGGGAGGGGGGAG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERICH1_chr8_659200_736224	659292	A A	AGGGGGGT others(41): Show AGGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATCCTGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0285 a0001c0001t0002g0285	1	378	0.0027	48	c.53 others(59): Show c.5310_*5311insCTCCCCAGGATGGTCAGTGCACACCGGAGATCTC GATGGTCACCCCCC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4907		chr8	TogoVar
ERICH1_chr8_659200_736224	659436	T T	TGACCATC others(41): Show TGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	378	0.0027	48	c.51 others(59): Show c.5166_*5167insCACCCCCCTCCCCAGGATGCTCAGTGCACACCGG AGATCTCGATGGTC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4763		chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073436	A A	ATATATAT others(41): Show ATATATATATATATATATATGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	442	0.0023	48	c.58+ others(63): Show c.58+8728_58+8729insGTATATATATATATATATATATATATATGT ATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091993	C C	CCCTTCCT others(41): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp1 HG00558.hp1 others(17): Show HG00140.hp2 HG00408.hp1 HG00558.hp1 HG01106.hp2 HG01167.hp2 HG01192.hp1 HG02698.hp1 HG02735.hp1 HG03669.hp2 HG03704.hp1 NA18747.hp2 NA18948.hp2 NA18952.hp1 NA18959.hp2 NA18962.hp2 NA18982.hp1 NA19000.hp2 NA19066.hp1 NA19066.hp2 NA19082.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0011c0010t0002	a0001c0001t0001g0088 a0001c0001t0002g0074 a0001c0001t0002g0087 others(17): Show a0001c0001t0001g0088 a0001c0001t0002g0074 a0001c0001t0002g0087 a0001c0001t0002g0098 a0001c0001t0002g0147 a0001c0001t0002g0166 a0001c0001t0002g0175 a0001c0001t0002g0192 a0001c0001t0002g0213 a0001c0001t0002g0262 a0001c0001t0002g0268 a0001c0001t0002g0297 a0001c0001t0002g0315 a0001c0001t0002g0322 a0001c0001t0002g0378 a0001c0001t0002g0393 a0001c0001t0002g0421 a0001c0001t0002g0423 a0001c0001t0003g0033 a0011c0010t0002g0273	20	442	0.0453	48	c.101 others(67): Show c.1013-1196_1013-1195insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERLIN2_chr8_37731634_37763422	37731817	G G	GCAAAAAA others(41): Show GCAAAAAAAACCTAACAAAAAAAACCACCTAAAAACTATAAAAAAGATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	224	0.0045	48	c.-48 others(59): Show c.-4877_-4876insCAAAAAAAACCTAACAAAAAAAACCACCTAAAAA CTATAAAAAAGATC	ERLIN2	ENSG00000147475.17	transcript	ENST00000519638.3	protein_coding		4816		chr8	TogoVar
ERO1B_chr1_236210101_236286958	236239877	A A	ATATATGT others(41): Show ATATATGTGTATATATATATGTGTATATATGTATATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01496.hp1 HG02615.hp2 HG00642.hp2 HG01496.hp1 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0048 a0001c0001t0001 a0001c0001t0009 a0001c0001t0048	a0001c0001t0001g0013 a0001c0001t0009g0012 a0001c0001t0048g0120 a0001c0001t0001g0013 a0001c0001t0009g0012 a0001c0001t0048g0120	3	396	0.0076	48	c.506 others(65): Show c.506-3480_506-3479insCATATACACATATATATACATATATACA CATATATATATACACATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236239877	A A	ATATATGT others(41): Show ATATATGTGTATATATATATGTGTATATATGTGTATATATGTGTATATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0226 a0006c0010t0001g0226	1	396	0.0025	48	c.506 others(65): Show c.506-3480_506-3479insCATATACACATATATACACATATATACA CATATATATATACACATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	6/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(41): Show ATATATATGTATATATATACACGTATATATATATGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0339 a0001c0001t0003g0339	1	396	0.0025	48	c.432 others(65): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATACATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236245508	G G	GTATATAT others(41): Show GTATATATATATACACGTATATATATATGTATATATATACACGTATATA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02132.hp1 others(2): Show HG02040.hp1 HG02074.hp2 HG02132.hp1 NA18947.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0034 a0001c0001t0003 a0001c0001t0005 a0001c0001t0034	a0001c0001t0003g0335 a0001c0001t0005g0324 a0001c0001t0005g0325 others(2): Show a0001c0001t0003g0335 a0001c0001t0005g0324 a0001c0001t0005g0325 a0001c0001t0005g0334 a0001c0001t0034g0088	5	396	0.0126	48	c.432 others(65): Show c.432-2014_432-2013insTATATACGTGTATATATATACATATATA TATACGTGTATATATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar

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