Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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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
EPCAM_chr2_47364311_47392020	47365512	ATATATAT others(23): Show ATATATATATATATATATATATATTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG03041.hp1 HG03209.hp2 others(2): Show HG02723.hp2 HG03041.hp1 HG03209.hp2 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0329 a0001c0001t0001g0330 others(2): Show a0001c0001t0001g0009 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332	5	450	0.0111	-30	c.-39 others(41): Show c.-3993_-3964delTATATATATATATATATATATATTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3798		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	450	0.0022	-30	c.-39 others(41): Show c.-3991_-3962delTATATATATATATATATATATTTTTTTTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47383607	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	450	0.0022	-30	c.859 others(47): Show c.859-1543_859-1514delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPHA3_chr3_89102621_89487134	89180072	GGTGTTTA others(23): Show GGTGTTTAGAAAACCTGTTCTATTTGTTTCC	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0005 a0006c0010t0005	a0006c0010t0005g0002 a0006c0010t0005g0002	1	200	0.0050	-30	c.154 others(49): Show c.154-29781_154-29752delAGAAAACCTGTTCTATTTGTTTCCGT GTTT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89211725	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTCCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG00735.hp2 others(16): Show HG00140.hp1 HG00642.hp2 HG00735.hp2 HG01081.hp2 HG01358.hp2 HG01975.hp1 HG01975.hp2 HG02602.hp1 HG02602.hp2 HG02735.hp2 HG03225.hp2 HG03239.hp1 HG03654.hp1 HG03654.hp2 NA18522.hp2 NA18981.hp1 NA19074.hp1 NA19080.hp2 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0003c0004	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0002c0002t0004 a0002c0003t0003 a0002c0005t0005 a0002c0006t0002 a0003c0004t0002	a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0077 others(16): Show a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0186 a0001c0001t0006g0108 a0002c0002t0002g0089 a0002c0002t0004g0181 a0002c0002t0004g0184 a0002c0003t0003g0032 a0002c0003t0003g0120 a0002c0003t0003g0126 a0002c0003t0003g0188 a0002c0005t0005g0071 a0002c0006t0002g0156 a0003c0004t0002g0025	19	200	0.0950	-30	c.814 others(47): Show c.814+1222_814+1251delCCTTCTTCTTCTTCTTCTTCTTCTTCTT CT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89429783	GTGCAATG others(23): Show GTGCAATGGTGCAATGGTGCAATGGTGCAAT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02559.hp2 HG02622.hp2 others(5): Show HG01243.hp1 HG02559.hp2 HG02622.hp2 HG02896.hp1 HG02922.hp1 HG03130.hp2 HG03195.hp2 HG03225.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0005 a0004c0007 a0006c0010 a0002c0005 a0004c0007 a0006c0010	a0002c0005t0005 a0002c0005t0018 a0004c0007t0005 others(1): Show a0002c0005t0005 a0002c0005t0018 a0004c0007t0005 a0006c0010t0005	a0002c0005t0005g0070 a0002c0005t0005g0071 a0002c0005t0018g0088 others(5): Show a0002c0005t0005g0070 a0002c0005t0005g0071 a0002c0005t0018g0088 a0004c0007t0005g0003 a0004c0007t0005g0004 a0004c0007t0005g0005 a0004c0007t0005g0006 a0006c0010t0005g0002	8	200	0.0400	-30	c.213 others(47): Show c.2136+617_2136+646delTGCAATGGTGCAATGGTGCAATGGTGCA AT	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	12/16			chr3	TogoVar
EPHA4_chr2_221413027_221577304	221526852	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG03195.hp1 HG02572.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0049 a0001c0001t0012 a0001c0001t0049	a0001c0001t0012g0275 a0001c0001t0049g0227 a0001c0001t0012g0275 a0001c0001t0049g0227	2	294	0.0068	-30	c.824 others(49): Show c.824-25710_824-25681delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA4_chr2_221413027_221577304	221566927	AGAAGGAG others(23): Show AGAAGGAGAAGGAGAAGGAGAAGGAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA20752.hp1 HG03041.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0028 a0001c0003t0046 a0001c0002t0028 a0001c0003t0046	a0001c0002t0028g0242 a0001c0003t0046g0278 a0001c0002t0028g0242 a0001c0003t0046g0278	2	294	0.0068	-30	c.159 others(47): Show c.159+1761_159+1790delCCCTTCTCCTTCTCCTTCTCCTTCTCCT TC	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	2/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65333530	AGTGTGTG others(23): Show AGTGTGTGTCTGTGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG01071.hp1 others(21): Show HG00099.hp2 HG00140.hp1 HG01071.hp1 HG01515.hp2 HG01978.hp2 HG02165.hp2 HG02615.hp2 HG02717.hp2 HG02818.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp1 HG03942.hp2 HG06807.hp1 NA18984.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA20300.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0001c0017 others(1): Show a0001c0001 a0001c0010 a0001c0017 a0003c0005	a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 others(9): Show a0001c0001t0009 a0001c0001t0015 a0001c0001t0018 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0032 a0001c0001t0038 a0001c0001t0049 a0001c0010t0061 a0001c0017t0025 a0003c0005t0009	a0001c0001t0009g0039 a0001c0001t0009g0061 a0001c0001t0009g0073 others(21): Show a0001c0001t0009g0039 a0001c0001t0009g0061 a0001c0001t0009g0073 a0001c0001t0009g0092 a0001c0001t0009g0107 a0001c0001t0015g0160 a0001c0001t0015g0188 a0001c0001t0015g0207 a0001c0001t0015g0213 a0001c0001t0015g0215 a0001c0001t0018g0023 a0001c0001t0018g0093 a0001c0001t0018g0112 a0001c0001t0025g0072 a0001c0001t0026g0152 a0001c0001t0026g0155 a0001c0001t0028g0141 a0001c0001t0028g0142 a0001c0001t0032g0004 a0001c0001t0038g0109 a0001c0001t0049g0174 a0001c0010t0061g0234 a0001c0017t0025g0120 a0003c0005t0009g0054	24	234	0.1026	-30	c.279 others(49): Show c.2790-1432_2790-1403delACACACACACACACACACACAGACAC ACAC	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	15/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574667	CACATATA others(23): Show CACATATATATACATATATATACATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03516.hp2 HG02976.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0045 a0001c0001t0003 a0001c0001t0045	a0001c0001t0003g0090 a0001c0001t0045g0091 a0001c0001t0003g0090 a0001c0001t0045g0091	2	234	0.0086	-30	c.910 others(49): Show c.910+26944_910+26973delATATATATGTATATATATGTATATAT ATGT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97327985	ATATGTAT others(23): Show ATATGTATATGTGTATGTATATGTATATGTG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0034 a0001c0002t0007g0034	1	82	0.0122	-30	c.160 others(51): Show c.1607-77161_1607-77132delGTATATGTGTATGTATATGTATAT GTGTAT	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA6_chr3_96809594_97766532	97363171	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03195.hp2 HG03486.hp2 HG02886.hp1 HG03195.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0024 a0001c0002t0001 a0001c0002t0024	a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0024g0031 a0001c0002t0001g0022 a0001c0002t0001g0025 a0001c0002t0024g0031	3	82	0.0366	-30	c.160 others(51): Show c.1607-41941_1607-41912delTATATATATATATATATATATATA TATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135155741	GATCACAC others(23): Show GATCACACCACTGCACTCCAGTGTGGGTGAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02258.hp2 NA19030.hp2 others(1): Show HG02109.hp2 HG02258.hp2 NA19030.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0001 a0001c0001t0007 a0001c0002t0006 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0006 a0001c0011t0023	a0001c0001t0001g0055 a0001c0001t0007g0027 a0001c0002t0006g0125 others(1): Show a0001c0001t0001g0055 a0001c0001t0007g0027 a0001c0002t0006g0125 a0001c0011t0023g0115	4	134	0.0299	-30	c.142 others(49): Show c.1422+1467_1422+1496delTCACACCACTGCACTCCAGTGTGGGT GACA	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	135183016	TTTTCTTT others(23): Show TTTTCTTTTCTTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0022 a0001c0004t0001g0022	1	134	0.0075	-30	c.188 others(49): Show c.1882+3042_1882+3071delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB2_chr1_22705839_22926500	22803615	TAATATAT others(23): Show TAATATATATATATATGTGTATATATATGTG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0135 a0001c0001t0051g0135	1	248	0.0040	-30	c.811 others(49): Show c.811+18540_811+18569delAATATATATATATATGTGTATATATA TGTG	EPHB2	ENSG00000133216.17	transcript	ENST00000374630.8	protein_coding	3/15			chr1	TogoVar
EPPK1_chr8_143852324_143883467	143855450	ATATCTAT others(23): Show ATATCTATATATCTATATCTATATATCTATT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0122 a0122	a0122c0334 a0122c0334	a0122c0334t0003 a0122c0334t0003	a0122c0334t0003g0254 a0122c0334t0003g0254	1	424	0.0024	-30	c.25 others(41): Show c.2507_*2536delAATAGATATATAGATATAGATATATAGATA	EPPK1	ENSG00000261150.3	transcript	ENST00000615648.2	protein_coding		1873		chr8	TogoVar
ERAP1_chr5_96769484_96812945	96808184	ATCCGTGT others(23): Show ATCCGTGTGTGTGTGTGTGTGTGTGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0019 a0019	a0019c0026 a0019c0026	a0019c0026t0006 a0019c0026t0006	a0019c0026t0006g0165 a0019c0026t0006g0165	1	416	0.0024	-30	c.-37 others(39): Show c.-372_-343delCACACACACACACACACACACACACACGGA	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		240		chr5	TogoVar
ERAP1_chr5_96769484_96812945	96808187	CGTGTGTG others(23): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01192.hp2 others(2): Show HG00639.hp2 HG01081.hp1 HG01192.hp2 HG01515.hp2 HG04204.hp2	a0006 a0007 a0006 a0007	a0006c0006 a0007c0008 a0006c0006 a0007c0008	a0006c0006t0004 a0007c0008t0003 a0006c0006t0004 a0007c0008t0003	a0006c0006t0004g0019 a0006c0006t0004g0322 a0006c0006t0004g0324 others(2): Show a0006c0006t0004g0019 a0006c0006t0004g0322 a0006c0006t0004g0324 a0006c0006t0004g0334 a0007c0008t0003g0008	5	416	0.0120	-30	c.-37 others(39): Show c.-375_-346delACACACACACACACACACACACACACACAC	ERAP1	ENSG00000164307.13	transcript	ENST00000443439.7	protein_coding		243		chr5	TogoVar
ERBB4_chr2_211370717_212543802	211557632	TTCCTTAT others(23): Show TTCCTTATAAGTGTATAAGGAACACTTATAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG02615.hp1 others(15): Show HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03225.hp1 HG03453.hp1 HG03579.hp1 HG03579.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0001t0017 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0002t0001	a0001c0001t0001g0045 a0001c0001t0002g0024 a0001c0001t0003g0040 others(15): Show a0001c0001t0001g0045 a0001c0001t0002g0024 a0001c0001t0003g0040 a0001c0001t0004g0003 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0007g0043 a0001c0001t0009g0046 a0001c0001t0014g0007 a0001c0001t0017g0029 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0025g0051 a0001c0001t0027g0055 a0001c0002t0001g0048	18	56	0.3214	-30	c.248 others(49): Show c.2487+4241_2487+4270delGTATAAGTGTTCCTTATACACTTATA AGGA	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	20/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211622990	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0055 a0001c0001t0027g0055	1	56	0.0179	-30	c.220 others(47): Show c.2202+902_2202+931delATATATATATATATATATATATATATAT AT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	18/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	211772808	GATATATA others(23): Show GATATATATATATATATATATATATATACAC	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	56	0.0179	-30	c.556 others(49): Show c.556+15187_556+15216delGTGTATATATATATATATATATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	4/27			chr2	TogoVar
ERBB4_chr2_211370717_212543802	212015041	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0053 a0001c0001t0028g0053	1	56	0.0179	-30	c.235 others(49): Show c.235-67455_235-67426delATATATATATATATATATATATATAT ATAT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERC1_chr12_986223_1500931	1154213	GTATGTAT others(23): Show GTATGTATATGTATATGTATATGTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0104 a0002c0002t0104	a0002c0002t0104g0043 a0002c0002t0104g0043	1	162	0.0062	-30	c.173 others(51): Show c.1737+12444_1737+12473delATATGTATATGTATATGTATATGT ATATGT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1196905	TACACACA others(23): Show TACACACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01261.hp1 HG02055.hp2 others(11): Show HG00639.hp2 HG01261.hp1 HG02055.hp2 HG02109.hp2 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02717.hp2 HG02896.hp1 HG03139.hp2 HG03209.hp1 HG03579.hp2 NA19043.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0010 a0001c0001 a0002c0002 a0005c0010	a0001c0001t0067 a0001c0001t0130 a0001c0001t0132 others(8): Show a0001c0001t0067 a0001c0001t0130 a0001c0001t0132 a0001c0001t0133 a0002c0002t0002 a0002c0002t0016 a0002c0002t0104 a0002c0002t0131 a0002c0002t0134 a0002c0002t0136 a0005c0010t0082	a0001c0001t0067g0121 a0001c0001t0130g0102 a0001c0001t0132g0103 others(11): Show a0001c0001t0067g0121 a0001c0001t0130g0102 a0001c0001t0132g0103 a0001c0001t0133g0094 a0002c0002t0002g0087 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0016g0098 a0002c0002t0016g0101 a0002c0002t0104g0043 a0002c0002t0131g0065 a0002c0002t0134g0105 a0002c0002t0136g0100 a0005c0010t0082g0126	14	162	0.0864	-30	c.235 others(49): Show c.2351+6881_2351+6910delCACACACACACACACACACACACACA CACA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	12/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1418565	TTTTCTTT others(23): Show TTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01346.hp1 HG01952.hp2 others(1): Show HG00408.hp1 HG01346.hp1 HG01952.hp2 NA18966.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0034 a0001c0001t0040 a0001c0001t0057 others(1): Show a0001c0001t0034 a0001c0001t0040 a0001c0001t0057 a0004c0005t0122	a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0057g0156 others(1): Show a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0057g0156 a0004c0005t0122g0057	4	162	0.0247	-30	c.302 others(51): Show c.3024+10344_3024+10373delCTTTCTTTCTTTCTTTCTTTCTTT CTTTCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1440600	TTGTGTGT others(23): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp2 HG02559.hp1 others(4): Show HG01884.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02970.hp1 HG04199.hp2 NA18966.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0034 a0001c0001t0086 others(3): Show a0001c0001t0004 a0001c0001t0034 a0001c0001t0086 a0001c0001t0103 a0002c0002t0001 a0002c0002t0039	a0001c0001t0004g0075 a0001c0001t0034g0161 a0001c0001t0086g0060 others(4): Show a0001c0001t0004g0075 a0001c0001t0034g0161 a0001c0001t0086g0060 a0001c0001t0103g0132 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0039g0151	7	162	0.0432	-30	c.302 others(49): Show c.3025-3923_3025-3894delTGTGTGTGTGTGTGTGTGTGTGTGTG TGTG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	17/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55952172	CACACACA others(23): Show CACACACACTCTCTCTCTCTCTCTCTCTATA	C C	intron_variant intron_variant	MODIFIER	HG03540.hp2 NA19030.hp2 HG03540.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0001 a0001c0002t0001 a0001c0004t0001	a0001c0002t0001g0017 a0001c0004t0001g0028 a0001c0002t0001g0017 a0001c0004t0001g0028	2	74	0.0270	-30	c.226 others(49): Show c.2268-1642_2268-1613delTATAGAGAGAGAGAGAGAGAGAGTGT GTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	12/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56051826	AACACACA others(23): Show AACACACACACACACACACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03195.hp2 HG03041.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0038 a0001c0001t0001g0052	2	74	0.0270	-30	c.164 others(51): Show c.1641+28961_1641+28990delGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56311233	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02965.hp2 HG03098.hp2 others(1): Show HG01099.hp2 HG02965.hp2 HG03098.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003	a0001c0002t0001g0003 a0001c0002t0001g0067 a0001c0002t0002g0016 others(1): Show a0001c0002t0001g0003 a0001c0002t0001g0067 a0001c0002t0002g0016 a0001c0002t0003g0018	4	74	0.0541	-30	c.658 others(49): Show c.658-14828_658-14799delTATATATAGAGAGAGAGAGAGAGAGA GAGA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17			chr3	TogoVar
ERCC2_chr19_45344837_45375573	45374289	GCACACAC others(23): Show GCACACACACACACGCACGCACGCACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02630.hp2 HG02886.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0036 a0001c0001t0004g0173 a0001c0001t0004g0036 a0001c0001t0004g0173	3	412	0.0073	-30	c.-37 others(41): Show c.-3779_-3750delTGTGTGTGCGTGCGTGCGTGTGTGTGTGTG	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding		3717		chr19	TogoVar
ERCC6_chr10_49449470_49544121	49526091	TTATATAT others(23): Show TTATATATTTATATATTTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02071.hp1 HG02132.hp2 others(11): Show HG01981.hp2 HG02071.hp1 HG02132.hp2 NA18942.hp2 NA18944.hp2 NA18963.hp1 NA18966.hp2 NA18979.hp1 NA18995.hp1 NA19007.hp2 NA19011.hp1 NA19067.hp2 NA19088.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0007 a0002c0002 a0002c0007	a0002c0002t0004 a0002c0002t0005 a0002c0007t0004 a0002c0002t0004 a0002c0002t0005 a0002c0007t0004	a0002c0002t0004g0008 a0002c0002t0004g0043 a0002c0002t0004g0044 others(10): Show a0002c0002t0004g0008 a0002c0002t0004g0043 a0002c0002t0004g0044 a0002c0002t0004g0048 a0002c0002t0004g0075 a0002c0002t0004g0082 a0002c0002t0005g0045 a0002c0002t0005g0046 a0002c0002t0005g0047 a0002c0002t0005g0076 a0002c0002t0005g0080 a0002c0002t0005g0083 a0002c0007t0004g0072	14	388	0.0361	-30	c.653 others(47): Show c.653-1344_653-1315delTATAAAAATATATAAATATATAAATATA TA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526099	TTATATAT others(23): Show TTATATATTTATATATTTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0130 a0005c0008t0001g0130	1	388	0.0026	-30	c.653 others(47): Show c.653-1352_653-1323delTATATATATATAAAAATATATAAATATA TA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49449470_49544121	49526115	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0016 a0029c0036t0016	a0029c0036t0016g0093 a0029c0036t0016g0093	1	388	0.0026	-30	c.653 others(47): Show c.653-1368_653-1339delTATATATATATATATATATATATATATA AA	ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526091	TTATATAT others(23): Show TTATATATTTATATATTTATATATTTTTATA	T T	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02071.hp2 HG02132.hp1 others(11): Show HG01981.hp1 HG02071.hp2 HG02132.hp1 NA18942.hp2 NA18944.hp1 NA18963.hp2 NA18966.hp1 NA18979.hp1 NA18995.hp2 NA19007.hp2 NA19011.hp1 NA19067.hp1 NA19088.hp2 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0002 a0002c0006t0002 a0002c0002t0002 a0002c0006t0002	a0002c0002t0002g0007 a0002c0002t0002g0031 a0002c0002t0002g0063 others(4): Show a0002c0002t0002g0007 a0002c0002t0002g0031 a0002c0002t0002g0063 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0006t0002g0073	14	402	0.0348	-30	c.653 others(47): Show c.653-1344_653-1315delTATAAAAATATATAAATATATAAATATA TA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526099	TTATATAT others(23): Show TTATATATTTATATATTTTTATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	402	0.0025	-30	c.653 others(47): Show c.653-1352_653-1323delTATATATATATAAAAATATATAAATATA TA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC6_chr10_49510198_49544121	49526115	TTTTATAT others(23): Show TTTTATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	402	0.0025	-30	c.653 others(47): Show c.653-1368_653-1339delTATATATATATATATATATATATATATA AA	ERCC6	ENSG00000225830.16	transcript	ENST00000447839.7	protein_coding	4/5			chr10	TogoVar
ERCC8_chr5_60861454_60950070	60904628	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG03486.hp1 HG03516.hp1 others(1): Show HG02735.hp2 HG03486.hp1 HG03516.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0034 a0001c0001t0058 a0001c0001t0060 others(1): Show a0001c0001t0034 a0001c0001t0058 a0001c0001t0060 a0001c0009t0034	a0001c0001t0034g0051 a0001c0001t0058g0262 a0001c0001t0060g0019 others(1): Show a0001c0001t0034g0051 a0001c0001t0058g0262 a0001c0001t0060g0019 a0001c0009t0034g0020	4	302	0.0133	-30	c.481 others(45): Show c.481+134_481+163delTATATATATATATATATATATATACACACA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERCC8_chr5_60861454_60950070	60904630	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0196 a0001c0001t0080g0196	1	302	0.0033	-30	c.481 others(45): Show c.481+132_481+161delTATATATATATATATATATATATATACACA	ERCC8	ENSG00000049167.16	transcript	ENST00000676185.1	protein_coding	5/11			chr5	TogoVar
ERI3_chr1_44216070_44360257	44342829	ATATATAT others(23): Show ATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	340	0.0029	-30	c.212 others(47): Show c.212-3537_212-3508delAATATATATATATATATATATATATATA TA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342837	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02145.hp2 HG02615.hp2 others(1): Show HG01943.hp1 HG02145.hp2 HG02615.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0166 a0001c0001t0001g0167 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168	4	340	0.0118	-30	c.212 others(47): Show c.212-3545_212-3516delAAAAAAAAAATATATATATATATATATA TA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44342839	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG06807.hp2 HG02056.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0208 a0001c0001t0001g0053 a0001c0001t0001g0208	2	340	0.0059	-30	c.212 others(47): Show c.212-3547_212-3518delAAAAAAAAAAAATATATATATATATATA TA	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar
ERICH5_chr8_98059568_98098609	98073432	CTATATAT others(23): Show CTATATATATATATATATATATATATATGTA	C C	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19010.hp1 HG02040.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0278 a0001c0001t0001g0267 a0001c0001t0001g0278	2	442	0.0045	-30	c.58+ others(45): Show c.58+8729_58+8758delATATGTATATATATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERO1B_chr1_236210101_236286958	236245526	GTATATAT others(23): Show GTATATATATGTGTGTATGTATGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01081.hp2 others(7): Show HG00673.hp1 HG00735.hp1 HG01081.hp2 HG02523.hp2 HG02602.hp2 HG02976.hp1 HG03704.hp1 NA19030.hp1 NA20129.hp1 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0001c0001t0047 a0002c0002t0004 others(4): Show a0001c0001t0005 a0001c0001t0047 a0002c0002t0004 a0002c0002t0006 a0002c0002t0011 a0002c0002t0023 a0002c0002t0040	a0001c0001t0005g0067 a0001c0001t0005g0104 a0001c0001t0047g0105 others(7): Show a0001c0001t0005g0067 a0001c0001t0005g0104 a0001c0001t0047g0105 a0002c0002t0004g0065 a0002c0002t0004g0354 a0002c0002t0006g0238 a0002c0002t0011g0360 a0002c0002t0023g0359 a0002c0002t0040g0196 a0002c0002t0040g0197	10	396	0.0253	-30	c.432 others(47): Show c.432-2061_432-2032delTACACACACATACATACACACATATATA TA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
ERV3-1_chr7_64985356_65011687	64989443	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG01433.hp1 HG01123.hp2 HG01433.hp1	a0002 a0005 a0002 a0005	a0002c0002 a0005c0007 a0002c0002 a0005c0007	a0002c0002t0001 a0005c0007t0005 a0002c0002t0001 a0005c0007t0005	a0002c0002t0001g0002 a0005c0007t0005g0088 a0002c0002t0001g0002 a0005c0007t0005g0088	2	458	0.0044	-30	c.17 others(41): Show c.1739_*1768delTATATATATATATATATATATATATATATA	ERV3-1	ENSG00000213462.5	transcript	ENST00000394323.3	protein_coding		912		chr7	TogoVar
ESPL1_chr12_53263299_53298638	53270524	GTTTGGGG others(23): Show GTTTGGGGTTGCTCCACTGCCCTCAAACAGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(258): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18976.hp1 NA18976.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp2 NA19055.hp1 NA19055.hp2 NA19058.hp1 NA19058.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0007 others(16): Show a0001 a0002 a0007 a0009 a0011 a0012 a0014 a0015 a0016 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0031 a0036	a0001c0001 a0001c0002 a0001c0010 others(25): Show a0001c0001 a0001c0002 a0001c0010 a0001c0022 a0001c0026 a0001c0029 a0001c0030 a0002c0003 a0007c0007 a0007c0032 a0009c0011 a0011c0013 a0012c0014 a0014c0037 a0014c0042 a0015c0017 a0016c0040 a0016c0041 a0021c0021 a0022c0023 a0023c0025 a0024c0027 a0025c0024 a0026c0028 a0027c0020 a0028c0031 a0031c0038 a0036c0019	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 others(26): Show a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0022t0001 a0001c0026t0001 a0001c0029t0001 a0001c0030t0001 a0002c0003t0002 a0007c0007t0002 a0007c0032t0002 a0009c0011t0001 a0011c0013t0001 a0011c0013t0002 a0012c0014t0001 a0014c0037t0001 a0014c0042t0001 a0015c0017t0001 a0016c0040t0001 a0016c0041t0001 a0021c0021t0001 a0022c0023t0001 a0023c0025t0001 a0024c0027t0001 a0025c0024t0001 a0026c0028t0001 a0027c0020t0001 a0028c0031t0002 a0031c0038t0001 a0036c0019t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(170): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0133 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0031 a0001c0002t0001g0034 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0072 a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0107 a0001c0002t0001g0113 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0180 a0001c0010t0001g0002 a0001c0010t0001g0003 a0001c0022t0001g0009 a0001c0026t0001g0137 a0001c0029t0001g0095 a0001c0030t0001g0030 a0002c0003t0002g0005 a0002c0003t0002g0017 a0002c0003t0002g0018 a0002c0003t0002g0040 a0002c0003t0002g0042 a0002c0003t0002g0044 a0002c0003t0002g0162 a0002c0003t0002g0163 a0002c0003t0002g0164 a0002c0003t0002g0165 a0002c0003t0002g0166 a0002c0003t0002g0167 a0002c0003t0002g0168 a0002c0003t0002g0169 a0002c0003t0002g0170 a0002c0003t0002g0171 a0002c0003t0002g0172 a0002c0003t0002g0174 a0002c0003t0002g0175 a0002c0003t0002g0177 a0002c0003t0002g0178 a0002c0003t0002g0179 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0186 a0002c0003t0002g0187 a0002c0003t0002g0188 a0002c0003t0002g0189 a0002c0003t0002g0190 a0002c0003t0002g0191 a0002c0003t0002g0192 a0002c0003t0002g0193 a0007c0007t0002g0038 a0007c0007t0002g0041 a0007c0007t0002g0173 a0007c0007t0002g0176 a0007c0032t0002g0038 a0009c0011t0001g0001 a0009c0011t0001g0007 a0009c0011t0001g0084 a0009c0011t0001g0157 a0011c0013t0001g0116 a0011c0013t0002g0039 a0012c0014t0001g0159 a0012c0014t0001g0161 a0012c0014t0001g0181 a0014c0037t0001g0069 a0014c0042t0001g0070 a0015c0017t0001g0043 a0016c0040t0001g0158 a0016c0041t0001g0160 a0021c0021t0001g0111 a0022c0023t0001g0121 a0023c0025t0001g0089 a0024c0027t0001g0001 a0025c0024t0001g0036 a0026c0028t0001g0002 a0027c0020t0001g0006 a0028c0031t0002g0040 a0031c0038t0001g0047 a0036c0019t0001g0003	261	334	0.7814	-30	c.124 others(45): Show c.1248+85_1249-82delCCACTGCCCTCAAACAGCTTTGGGGTTGCT	ESPL1	ENSG00000135476.12	transcript	ENST00000257934.9	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr12	TogoVar
ESRRB_chr14_76371137_76506837	76458453	CACACACA others(23): Show CACACACACACACACACAAACACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG02886.hp1 others(3): Show HG01884.hp1 HG02809.hp2 HG02886.hp1 HG03471.hp2 NA18942.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017	a0001c0001t0001g0124 a0001c0001t0001g0161 a0001c0001t0006g0202 others(3): Show a0001c0001t0001g0124 a0001c0001t0001g0161 a0001c0001t0006g0202 a0001c0001t0006g0306 a0001c0001t0013g0140 a0001c0001t0017g0179	6	318	0.0189	-30	c.461 others(47): Show c.461-4091_461-4062delACACACACACACACACAAACACACACAC AT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6			chr14	TogoVar
ESRRB_chr14_76371137_76506837	76461478	CTTTTGTT others(23): Show CTTTTGTTTTGTTTTGTTTTGTTTTGTTTTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(99): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00642.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03516.hp1 HG03579.hp1 HG03688.hp2 HG03704.hp1 HG04184.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18942.hp2 NA18953.hp1 NA18954.hp1 NA18973.hp2 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA19007.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0001c0014 a0002c0003 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(34): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0031 a0001c0001t0032 a0001c0001t0035 a0001c0002t0003 a0001c0002t0006 a0001c0002t0007 a0001c0002t0018 a0001c0005t0001 a0001c0005t0006 a0001c0005t0013 a0001c0005t0015 a0001c0008t0005 a0001c0014t0009 a0002c0003t0003 a0002c0003t0004 a0005c0013t0002	a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 others(98): Show a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0097 a0001c0001t0001g0124 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0206 a0001c0001t0001g0223 a0001c0001t0001g0247 a0001c0001t0001g0259 a0001c0001t0001g0314 a0001c0001t0002g0004 a0001c0001t0002g0012 a0001c0001t0002g0021 a0001c0001t0002g0025 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0121 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0002g0237 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0311 a0001c0001t0003g0017 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0003g0181 a0001c0001t0003g0209 a0001c0001t0003g0289 a0001c0001t0004g0101 a0001c0001t0005g0216 a0001c0001t0006g0020 a0001c0001t0006g0034 a0001c0001t0006g0102 a0001c0001t0006g0137 a0001c0001t0006g0202 a0001c0001t0006g0243 a0001c0001t0006g0306 a0001c0001t0007g0125 a0001c0001t0007g0134 a0001c0001t0007g0183 a0001c0001t0007g0189 a0001c0001t0007g0230 a0001c0001t0007g0315 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0210 a0001c0001t0010g0156 a0001c0001t0011g0001 a0001c0001t0013g0140 a0001c0001t0013g0182 a0001c0001t0014g0104 a0001c0001t0014g0272 a0001c0001t0015g0212 a0001c0001t0016g0010 a0001c0001t0016g0191 a0001c0001t0017g0023 a0001c0001t0017g0179 a0001c0001t0018g0192 a0001c0001t0020g0123 a0001c0001t0020g0308 a0001c0001t0023g0139 a0001c0001t0024g0035 a0001c0001t0025g0197 a0001c0001t0026g0215 a0001c0001t0031g0033 a0001c0001t0032g0273 a0001c0001t0035g0094 a0001c0002t0003g0213 a0001c0002t0006g0184 a0001c0002t0006g0307 a0001c0002t0007g0316 a0001c0002t0018g0044 a0001c0005t0001g0180 a0001c0005t0006g0208 a0001c0005t0013g0186 a0001c0005t0015g0207 a0001c0008t0005g0171 a0001c0014t0009g0141 a0002c0003t0003g0115 a0002c0003t0003g0310 a0002c0003t0004g0063 a0005c0013t0002g0159	102	318	0.3208	-30	c.461 others(47): Show c.461-1048_461-1019delTGTTTTGTTTTGTTTTGTTTTGTTTTGT TT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRG_chr1_216498251_216728429	216569170	GGGAAGGG others(23): Show GGGAAGGGAAGGGAAGGGAAGGGAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0229 a0001c0002t0002g0229	1	286	0.0035	-30	c.590 others(47): Show c.590-1102_590-1073delTTTCCTTTCCCTTCCCTTCCCTTCCCTT CC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216658848	AAGAAGAG others(23): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01358.hp1 HG01928.hp2 others(3): Show HG00544.hp1 HG01358.hp1 HG01928.hp2 HG01993.hp2 HG02148.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0016 a0001c0001t0001 a0001c0001t0003 a0001c0001t0016	a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0003g0107 others(3): Show a0001c0001t0001g0190 a0001c0001t0001g0206 a0001c0001t0003g0107 a0001c0001t0003g0200 a0001c0001t0003g0238 a0001c0001t0016g0001	6	286	0.0210	-30	c.473 others(47): Show c.473-7789_473-7760delCTTCTCTTCTCTTCTCTTCTCTTCTCTT CT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ESYT2_chr7_158725997_158834509	158729207	TGCTGCGG others(23): Show TGCTGCGGGGGAAGAGCAAGCGTGGAGGTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03209.hp2 NA18961.hp1 others(9): Show HG02055.hp2 HG03209.hp2 NA18961.hp1 NA18972.hp1 NA18978.hp2 NA18988.hp2 NA18993.hp1 NA19009.hp1 NA19010.hp2 NA19068.hp1 NA19074.hp1 NA19090.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0026 a0002c0002 a0006c0026	a0002c0002t0002 a0006c0026t0002 a0002c0002t0002 a0006c0026t0002	a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0254 others(9): Show a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0277 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0306 a0006c0026t0002g0246	12	370	0.0324	-30	c.49 others(41): Show c.4970_*4999delCCACCTCCACGCTTGCTCTTCCCCCGCAGC	ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding		1789		chr7	TogoVar

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