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
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(33): Show CATATATATATATATACATATATACACGTATATATATATAT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0186 a0002c0001t0001g0186	1	430	0.0023	40	c.253 others(55): Show c.253+739_253+740insATATACATATATACACGTATATATATATAT ATATATATAT	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(33): Show CATATATATATATATACATATATACATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG04204.hp1 HG03579.hp2 HG04204.hp1	a0002 a0009 a0002 a0009	a0002c0001 a0009c0022 a0002c0001 a0009c0022	a0002c0001t0001 a0009c0022t0001 a0002c0001t0001 a0009c0022t0001	a0002c0001t0001g0189 a0009c0022t0001g0188 a0002c0001t0001g0189 a0009c0022t0001g0188	2	430	0.0047	40	c.253 others(55): Show c.253+739_253+740insATATACATATATACATATATATATATATAT ATATATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTPD1_chr10_95751163_95882266	95858177	C C	CTGCTGGG others(33): Show CTGCTGGGAAGAAAGAGACAGTCCTGTGAAAGCAGATAACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0124 a0001c0005t0002g0124	1	340	0.0029	40	c.107 others(59): Show c.1075-2284_1075-2283insAGAAAGAGACAGTCCTGTGAAAGCAG ATAACATGCTGGGA	ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
EP400_chr12_131944942_132085460	132080746	C C	CACTGGCA others(33): Show CACTGGCACCAGTGTCCTTCCACACCCAGTCTGTGTGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02965.hp1 HG02976.hp1 others(6): Show HG01891.hp1 HG02965.hp1 HG02976.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0004 a0006 a0017 a0004 a0006 a0017	a0004c0009 a0004c0014 a0006c0010 others(1): Show a0004c0009 a0004c0014 a0006c0010 a0017c0028	a0004c0009t0004 a0004c0014t0007 a0006c0010t0004 others(1): Show a0004c0009t0004 a0004c0014t0007 a0006c0010t0004 a0017c0028t0004	a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 others(6): Show a0004c0009t0004g0078 a0004c0009t0004g0079 a0004c0009t0004g0153 a0004c0009t0004g0156 a0004c0014t0007g0163 a0004c0014t0007g0164 a0004c0014t0007g0165 a0006c0010t0004g0154 a0017c0028t0004g0155	9	208	0.0433	40	c.30 others(51): Show c.3073_*3074insACTGGCACCAGTGTCCTTCCACACCCAGTCTGTG TGCCCA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		287		chr12	TogoVar
EP400_chr12_131944942_132085460	132080862	G G	GCCCAACT others(33): Show GCCCAACTGGCACCAGTGTCCTTCCACACCCAGTCTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0004 a0006c0010t0004	a0006c0010t0004g0150 a0006c0010t0004g0157 a0006c0010t0004g0150 a0006c0010t0004g0157	2	208	0.0096	40	c.31 others(51): Show c.3189_*3190insCCCAACTGGCACCAGTGTCCTTCCACACCCAGTC TGTGTA	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding		403		chr12	TogoVar
EPAS1_chr2_46292407_46391697	46296659	C C	CCCGCGCA others(33): Show CCCGCGCAGGAGCGGCGGGGTGCCGAGAGTAGGGACAGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00738.hp1 HG01074.hp1 others(42): Show HG00099.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01243.hp1 HG01433.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01978.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02886.hp2 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03942.hp1 HG06807.hp2 NA18953.hp2 NA18954.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0016 a0002c0002 a0002c0014 a0003c0003 a0003c0004 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0036 a0001c0001t0037 a0001c0001t0040 a0001c0001t0041 a0001c0005t0018 a0001c0006t0039 a0001c0016t0005 a0002c0002t0005 a0002c0002t0019 a0002c0002t0020 a0002c0002t0043 a0002c0014t0005 a0003c0003t0009 a0003c0004t0006 a0003c0004t0009 a0003c0004t0021 a0005c0008t0042	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 others(41): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0002g0011 a0001c0001t0004g0010 a0001c0001t0005g0025 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0036 a0001c0001t0005g0187 a0001c0001t0010g0003 a0001c0001t0010g0142 a0001c0001t0011g0136 a0001c0001t0011g0138 a0001c0001t0018g0185 a0001c0001t0036g0186 a0001c0001t0037g0184 a0001c0001t0040g0013 a0001c0001t0041g0026 a0001c0005t0018g0183 a0001c0006t0039g0032 a0001c0016t0005g0030 a0002c0002t0005g0012 a0002c0002t0005g0014 a0002c0002t0005g0016 a0002c0002t0005g0021 a0002c0002t0005g0033 a0002c0002t0005g0034 a0002c0002t0019g0017 a0002c0002t0019g0027 a0002c0002t0020g0018 a0002c0002t0020g0031 a0002c0002t0043g0037 a0002c0014t0005g0024 a0003c0003t0009g0019 a0003c0003t0009g0319 a0003c0004t0006g0141 a0003c0004t0009g0020 a0003c0004t0009g0022 a0003c0004t0009g0035 a0003c0004t0021g0137 a0005c0008t0042g0023	45	326	0.1380	40	c.-12 others(51): Show c.-1253_-1252insCCGCGCAGGAGCGGCGGGGTGCCGAGAGTAGGGA CAGAAG	EPAS1	ENSG00000116016.14	transcript	ENST00000263734.5	protein_coding		747		chr2	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTATAT others(33): Show GTGTATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0185 a0001c0002t0002g0186	2	222	0.0090	40	c.-11 others(59): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATATATACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(33): Show GTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp2 HG02630.hp1 others(1): Show HG01081.hp2 HG01243.hp2 HG02630.hp1 HG02976.hp2	a0001 a0010 a0001 a0010	a0001c0002 a0010c0017 a0001c0002 a0010c0017	a0001c0002t0002 a0001c0002t0010 a0010c0017t0002 a0001c0002t0002 a0001c0002t0010 a0010c0017t0002	a0001c0002t0002g0035 a0001c0002t0002g0049 a0001c0002t0010g0031 others(1): Show a0001c0002t0002g0035 a0001c0002t0002g0049 a0001c0002t0010g0031 a0010c0017t0002g0032	4	222	0.0180	40	c.-11 others(59): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATATATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(33): Show AACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0115	1	312	0.0032	40	c.-8+ others(57): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACAC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG00438.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0236 a0001c0001t0002g0120 a0001c0001t0002g0236	2	312	0.0064	40	c.-8+ others(57): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACACCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(33): Show ACACACACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18980.hp1 HG02896.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0139 a0001c0001t0001g0031 a0001c0001t0001g0139	2	312	0.0064	40	c.-8+ others(57): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACACCCCC	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(33): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp1 HG02717.hp2 others(7): Show HG01109.hp1 HG02622.hp1 HG02717.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG02976.hp1 HG03540.hp2 HG03669.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0003 a0001c0002t0007 a0001c0002t0019 others(1): Show a0001c0002t0003 a0001c0002t0007 a0001c0002t0019 a0001c0012t0007	a0001c0002t0003g0046 a0001c0002t0003g0192 a0001c0002t0003g0193 others(7): Show a0001c0002t0003g0046 a0001c0002t0003g0192 a0001c0002t0003g0193 a0001c0002t0003g0195 a0001c0002t0003g0207 a0001c0002t0007g0199 a0001c0002t0007g0205 a0001c0002t0019g0190 a0001c0002t0019g0197 a0001c0012t0007g0198	10	312	0.0321	40	c.468 others(57): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPDR1_chr7_37915640_37956936	37937985	A A	ATTTTTTT others(33): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0147 a0001c0002t0015g0147	1	448	0.0022	40	c.270 others(59): Show c.270-10832_270-10831insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	EPDR1	ENSG00000086289.13	transcript	ENST00000199448.9	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr7	TogoVar
EPHA3_chr3_89102621_89487134	89208423	G G	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	200	0.0050	40	c.154 others(57): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGAAAGAAAGAAAG AAAGAAAGAAAG	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(33): Show GAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02083.hp1 others(5): Show HG01257.hp2 HG01258.hp2 HG02083.hp1 HG02630.hp1 HG02647.hp2 HG02976.hp2 HG03139.hp1 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0001t0017 a0002c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0017 a0002c0002t0004 a0002c0003t0003 a0002c0005t0005	a0001c0001t0001g0014 a0001c0001t0017g0152 a0002c0002t0004g0010 others(5): Show a0001c0001t0001g0014 a0001c0001t0017g0152 a0002c0002t0004g0010 a0002c0002t0004g0049 a0002c0002t0004g0061 a0002c0002t0004g0062 a0002c0003t0003g0183 a0002c0005t0005g0090	8	200	0.0400	40	c.154 others(57): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGAAAGAAAG AAAGAAAGAAAG	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(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01516.hp1 HG02486.hp1 others(2): Show HG01515.hp1 HG01516.hp1 HG02486.hp1 HG03195.hp1 HG03453.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0005 a0002c0006 others(1): Show a0001c0001 a0002c0005 a0002c0006 a0003c0004	a0001c0001t0001 a0002c0005t0005 a0002c0006t0002 others(1): Show a0001c0001t0001 a0002c0005t0005 a0002c0006t0002 a0003c0004t0002	a0001c0001t0001g0143 a0002c0005t0005g0091 a0002c0006t0002g0037 others(2): Show a0001c0001t0001g0143 a0002c0005t0005g0091 a0002c0006t0002g0037 a0003c0004t0002g0196 a0003c0004t0002g0197	5	200	0.0250	40	c.154 others(57): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGAAAG AAAGAAAGAAAG	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(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG06807.hp2 HG03225.hp1 HG06807.hp2	a0002 a0002	a0002c0005 a0002c0006 a0002c0005 a0002c0006	a0002c0005t0005 a0002c0006t0002 a0002c0005t0005 a0002c0006t0002	a0002c0005t0005g0086 a0002c0006t0002g0142 a0002c0005t0005g0086 a0002c0006t0002g0142	2	200	0.0100	40	c.154 others(57): Show c.154-1434_154-1433insGAAGGAAGGAAGGAAGGAAGGAAGGAAG AAAGAAAGAAAG	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA3_chr3_89102621_89487134	89359770	C C	CACATATA others(33): Show CACATATATATACATATATATACATATATACACATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	200	0.0050	40	c.130 others(61): Show c.1306+17702_1306+17741dupCATATATACACATATATATACATA TATATACATATATATA	EPHA3	ENSG00000044524.11	transcript	ENST00000336596.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHA4_chr2_221413027_221577304	221511456	G G	GTTTCTGT others(33): Show GTTTCTGTACCTCACTTCCGATTTCTGTACCTCACTTCCGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00733.hp2 others(29): Show HG00423.hp2 HG00544.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01433.hp2 HG02015.hp1 HG02027.hp2 HG02080.hp1 HG02129.hp1 HG02129.hp2 HG02300.hp1 HG02300.hp2 HG02735.hp1 NA18612.hp2 NA18939.hp2 NA18948.hp2 NA18965.hp1 NA18973.hp1 NA18981.hp1 NA18983.hp1 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19002.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0020 a0001c0001t0041 a0001c0001t0043 a0001c0002t0001 a0001c0003t0001 a0001c0007t0005	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 others(29): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0121 a0001c0001t0001g0151 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0208 a0001c0001t0001g0230 a0001c0001t0002g0014 a0001c0001t0002g0067 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0123 a0001c0001t0004g0003 a0001c0001t0004g0174 a0001c0001t0005g0001 a0001c0001t0006g0238 a0001c0001t0007g0076 a0001c0001t0007g0078 a0001c0001t0007g0201 a0001c0001t0020g0077 a0001c0001t0041g0122 a0001c0001t0043g0124 a0001c0002t0001g0019 a0001c0003t0001g0087 a0001c0007t0005g0061	32	294	0.1088	40	c.824 others(59): Show c.824-10324_824-10285dupTCGGAAGTGAGGTACAGAAATCGGAA GTGAGGTACAGAAA	EPHA4	ENSG00000116106.12	transcript	ENST00000281821.7	protein_coding	3/17			chr2	TogoVar
EPHA5_chr4_65314567_65675489	65468568	A A	ATATATAT others(33): Show ATATATATATGTAAAATATATATAATATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0190 a0001c0001t0057g0190	1	234	0.0043	40	c.140 others(61): Show c.1402+21808_1402+21809insATATATAATATATATATTATATAT ATTTTACATATATATA	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	5/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65574631	T T	TATATATA others(33): Show TATATATATACATATATATATATATACACATATATATACAC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0080 a0001c0001t0004g0080	1	234	0.0043	40	c.910 others(59): Show c.910+27009_910+27010insGTGTATATATATGTGTATATATATAT ATATGTATATATAT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA5_chr4_65314567_65675489	65576054	G G	GAAAGAAA others(33): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAAGA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0197 a0001c0001t0011g0197	1	234	0.0043	40	c.910 others(59): Show c.910+25586_910+25587insTCTTTTCTTTTCTTTTCTTTCTTTCT TTCTTTCTTTCTTT	EPHA5	ENSG00000145242.14	transcript	ENST00000613740.5	protein_coding	3/16			chr4	TogoVar
EPHA6_chr3_96809594_97766532	97085928	C C	CATATATA others(33): Show CATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA19043.hp2 HG02280.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0011 a0001c0002t0001 a0001c0003t0011	a0001c0002t0001g0078 a0001c0003t0011g0011 a0001c0002t0001g0078 a0001c0003t0011g0011	2	82	0.0244	40	c.111 others(61): Show c.1114+97956_1114+97957insTATATATATATATATATATATATA TATATATATATATATA	EPHA6	ENSG00000080224.18	transcript	ENST00000389672.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHB1_chr3_134790260_135265467	134882765	C C	CCTTTCTT others(33): Show CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0016 a0001c0003t0001g0016	1	134	0.0075	40	c.59- others(57): Show c.59-43030_59-42991dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTT	EPHB1	ENSG00000154928.19	transcript	ENST00000398015.8	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
EPHX4_chr1_92024985_92068538	92030490	G G	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0205 a0001c0001t0001g0206	2	236	0.0085	40	c.231 others(55): Show c.231+180_231+181insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGTGTA	EPHX4	ENSG00000172031.7	transcript	ENST00000370383.5	protein_coding	1/6			chr1	TogoVar
EPN2_chr17_19232366_19341715	19289724	G G	GTTTTGTT others(33): Show GTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	282	0.0036	40	c.766 others(57): Show c.766+3938_766+3939insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	EPN2	ENSG00000072134.16	transcript	ENST00000314728.10	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EPRS1_chr1_219963600_220051505	219971795	T T	TATATATA others(33): Show TATATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp2 HG01081.hp2 others(12): Show HG00140.hp1 HG00741.hp2 HG01081.hp2 HG01934.hp2 HG02056.hp2 HG02602.hp1 HG03098.hp2 HG03491.hp1 HG04115.hp1 HG04199.hp2 NA18612.hp2 NA19005.hp1 NA19070.hp1 NA19085.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0085 others(12): Show a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0135 a0001c0001t0002g0155 a0001c0001t0002g0233 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0002g0309	15	358	0.0419	40	c.432 others(57): Show c.4323+273_4323+274insGTGTGTATATATATATATATATATATAT ATATATATATAT	EPRS1	ENSG00000136628.18	transcript	ENST00000366923.8	protein_coding	30/31			chr1	TogoVar
EPS8L2_chr11_701231_732727	720958	C C	CCCGGCAG others(33): Show CCCGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGGGAGGAG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0036 a0001c0003t0003g0036	1	406	0.0025	40	c.557 others(53): Show c.557+52_558-64dupGGCAGGGGAGGGGAGGAGCCGGCAGGGGAGGG GAGGAGCC	EPS8L2	ENSG00000177106.17	transcript	ENST00000318562.13	protein_coding	7/20		INFO_REALIGN_3_PRIME	chr11	TogoVar
EPSTI1_chr13_42881388_42997241	42926041	A A	AAGGAAGG others(33): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG00609.hp1 others(30): Show HG00408.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG01346.hp2 HG01433.hp2 HG01952.hp2 HG01975.hp2 HG02056.hp1 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02735.hp2 HG02895.hp2 HG03688.hp1 NA18941.hp2 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18955.hp2 NA18975.hp2 NA18987.hp2 NA19006.hp2 NA19066.hp1 NA19067.hp1 NA19072.hp1 NA19074.hp1 NA19080.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(17): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0028 a0001c0001t0039 a0001c0001t0058 a0001c0002t0001 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0023 a0001c0002t0031 a0001c0002t0037 a0001c0002t0047	a0001c0001t0001g0026 a0001c0001t0004g0073 a0001c0001t0004g0091 others(30): Show a0001c0001t0001g0026 a0001c0001t0004g0073 a0001c0001t0004g0091 a0001c0001t0004g0129 a0001c0001t0008g0027 a0001c0001t0013g0106 a0001c0001t0014g0343 a0001c0001t0017g0067 a0001c0001t0018g0052 a0001c0001t0028g0312 a0001c0001t0039g0036 a0001c0001t0058g0204 a0001c0002t0001g0042 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0089 a0001c0002t0005g0038 a0001c0002t0005g0048 a0001c0002t0005g0061 a0001c0002t0005g0082 a0001c0002t0005g0097 a0001c0002t0006g0311 a0001c0002t0007g0334 a0001c0002t0009g0037 a0001c0002t0009g0109 a0001c0002t0009g0138 a0001c0002t0010g0210 a0001c0002t0023g0090 a0001c0002t0031g0070 a0001c0002t0037g0092 a0001c0002t0047g0251	33	352	0.0938	40	c.657 others(55): Show c.657+294_657+295insACCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	7/10			chr13	TogoVar
ERBB3_chr12_56075165_56108505	56075857	G G	GGATGGGG others(33): Show GGATGGGGTGGCTGCCGGGCGGAGACTCTCCTCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(224): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp2 HG03017.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp1 NA18992.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19079.hp1 NA19080.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0008 others(2): Show a0001 a0003 a0008 a0010 a0011	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0001c0020 a0003c0004 a0008c0014 a0010c0017 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0011 a0001c0002t0012 a0001c0002t0019 a0001c0006t0002 a0001c0007t0002 a0001c0020t0001 a0003c0004t0008 a0008c0014t0002 a0010c0017t0003 a0011c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(187): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0327 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0075 a0001c0001t0002g0159 a0001c0001t0002g0172 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0012 a0001c0001t0003g0037 a0001c0001t0003g0072 a0001c0001t0003g0132 a0001c0001t0003g0145 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0179 a0001c0001t0003g0196 a0001c0001t0003g0199 a0001c0001t0004g0002 a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0059 a0001c0001t0004g0061 a0001c0001t0004g0083 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0097 a0001c0001t0004g0136 a0001c0001t0004g0142 a0001c0001t0004g0152 a0001c0001t0004g0153 a0001c0001t0004g0167 a0001c0001t0004g0181 a0001c0001t0004g0189 a0001c0001t0004g0191 a0001c0001t0005g0134 a0001c0001t0006g0070 a0001c0001t0014g0014 a0001c0001t0017g0182 a0001c0001t0018g0012 a0001c0001t0020g0093 a0001c0001t0022g0128 a0001c0002t0001g0036 a0001c0002t0001g0049 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0011 a0001c0002t0002g0017 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0050 a0001c0002t0002g0052 a0001c0002t0002g0060 a0001c0002t0002g0063 a0001c0002t0002g0073 a0001c0002t0002g0074 a0001c0002t0002g0076 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0091 a0001c0002t0002g0092 a0001c0002t0002g0094 a0001c0002t0002g0095 a0001c0002t0002g0100 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0105 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0125 a0001c0002t0002g0162 a0001c0002t0003g0011 a0001c0002t0003g0071 a0001c0002t0003g0080 a0001c0002t0003g0101 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0171 a0001c0002t0005g0001 a0001c0002t0005g0081 a0001c0002t0005g0124 a0001c0002t0011g0109 a0001c0002t0011g0120 a0001c0002t0012g0015 a0001c0002t0012g0197 a0001c0002t0019g0015 a0001c0006t0002g0001 a0001c0007t0002g0102 a0001c0020t0001g0002 a0003c0004t0008g0019 a0003c0004t0008g0020 a0003c0004t0008g0157 a0003c0004t0008g0240 a0008c0014t0002g0013 a0010c0017t0003g0057 a0011c0010t0002g0115	227	392	0.5791	40	c.-44 others(51): Show c.-4444_-4443insGATGGGGTGGCTGCCGGGCGGAGACTCTCCTCAC TTCCCA	ERBB3	ENSG00000065361.17	transcript	ENST00000267101.8	protein_coding		4307		chr12	TogoVar
ERBB4_chr2_211370717_212543802	212003099	C C	CAGAAAGA others(33): Show CAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0031	1	56	0.0179	40	c.235 others(59): Show c.235-55484_235-55483insTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCT	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	2/27			chr2	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATAATA others(33): Show TTATAATATATAATATATATTATATAATATATATTATATAA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	306	0.0033	40	c.534 others(57): Show c.534-2838_534-2837insATATATAATATATATTATATAATATATA TTATATAATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	66018480	T T	TTATATAT others(33): Show TTATATATTATATTATATAATATATATTATATATTATATAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0211 a0001c0002t0002g0211	1	306	0.0033	40	c.534 others(57): Show c.534-2769_534-2730dupTTATATAATATATATTATATTATATAAT ATATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1121744	T T	TCTATCTG others(33): Show TCTATCTGTGCCTATTGATATATCTGTATATATCTATCTAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01256.hp2 HG01192.hp2 HG01256.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0096 a0003c0004t0010 a0003c0004t0096	a0003c0004t0010g0053 a0003c0004t0096g0063 a0003c0004t0010g0053 a0003c0004t0096g0063	2	162	0.0124	40	c.156 others(59): Show c.1569+5711_1569+5712insCTATCTGTGCCTATTGATATATCTGT ATATATCTATCTAA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18			chr12	TogoVar
ERC1_chr12_986223_1500931	1122047	C C	CTGTGTCT others(33): Show CTGTGTCTCTATCTCTATCTCTATCTGTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0018 a0001c0001t0012g0018	1	162	0.0062	40	c.156 others(59): Show c.1569+6015_1569+6016insGTGTCTCTATCTCTATCTCTATCTGT ATCTCTATCTCTAT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122129	C C	CTCTATCT others(33): Show CTCTATCTCTATCTCTATCTGTGTCTCTATCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0147 a0001c0001t0062g0147	1	162	0.0062	40	c.156 others(59): Show c.1569+6115_1569+6116insGTGTCTCTATCTCTATCTCTATCTAT CTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122445	A A	ATCTCTAT others(33): Show ATCTCTATCTATCTCTATCTCTATCTCTATCTCTATCTGTT	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18612.hp1 HG01517.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0125 a0001c0001t0007 a0001c0001t0125	a0001c0001t0007g0044 a0001c0001t0125g0033 a0001c0001t0007g0044 a0001c0001t0125g0033	2	162	0.0124	40	c.156 others(59): Show c.1569+6421_1569+6422insATCTCTATCTCTATCTCTATCTCTAT CTGTTTCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1122483	C C	CTCTATCT others(33): Show CTCTATCTCTATCTCTATCTCTATCTGTGTCTCTATCTCTA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp1 HG02602.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0123 a0001c0001t0013 a0001c0001t0123	a0001c0001t0013g0005 a0001c0001t0123g0047 a0001c0001t0013g0005 a0001c0001t0123g0047	2	162	0.0124	40	c.156 others(59): Show c.1569+6475_1569+6476insGTGTCTCTATCTCTATCTATCTCTAT CTCTATCTCTATCT	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1144614	G G	GTATATAT others(33): Show GTATATATATATATATATATATACGTGTATATATATACGTA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03225.hp1 NA21309.hp2 HG02896.hp2 HG03225.hp1 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0081 a0002c0002t0115 a0002c0002t0140 a0002c0002t0081 a0002c0002t0115 a0002c0002t0140	a0002c0002t0081g0123 a0002c0002t0115g0049 a0002c0002t0140g0108 a0002c0002t0081g0123 a0002c0002t0115g0049 a0002c0002t0140g0108	3	162	0.0185	40	c.173 others(59): Show c.1737+2847_1737+2848insTACGTGTATATATATACGTATATATA TATATATATATATA	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC2_chr3_55503311_56473467	55714661	G G	GTATATAT others(33): Show GTATATATATATATATGTATATATATATGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp2 HG03098.hp2 others(1): Show HG02922.hp1 HG02922.hp2 HG03098.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0004t0001	a0001c0001t0002g0037 a0001c0001t0003g0046 a0001c0002t0002g0016 others(1): Show a0001c0001t0002g0037 a0001c0001t0003g0046 a0001c0002t0002g0016 a0001c0004t0001g0031	4	74	0.0541	40	c.271 others(61): Show c.2713-15150_2713-15149insTATATATACACACATATATATATA CATATATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	15/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55799457	A A	ATATATAT others(33): Show ATATATATATATGCCTTATATATATATGCATATATATATAT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0063 a0001c0001t0005g0063	1	74	0.0135	40	c.256 others(61): Show c.2565-64540_2565-64539insATATATATATATGCATATATATAT AAGGCATATATATATA	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	55831426	A A	AGGGAGGG others(33): Show AGGGAGGGAAGGGGAGGGGAGGGGAGGGAAGGGGAGGGGAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01346.hp1 HG02738.hp1 others(1): Show HG01069.hp2 HG01346.hp1 HG02738.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 a0001c0001t0001 a0001c0001t0005 a0002c0003t0003	a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0005g0053 others(1): Show a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0005g0053 a0002c0003t0003g0025	4	74	0.0541	40	c.256 others(61): Show c.2564+56962_2564+56963insATCCCCTCCCCTTCCCTCCCCTCC CCTCCCCTTCCCTCCC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56023774	T T	TGAAGGAA others(33): Show TGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	74	0.0135	40	c.164 others(59): Show c.1642-4744_1642-4743insCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTC	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	7/17			chr3	TogoVar
ERC2_chr3_55503311_56473467	56126807	G G	GAAGGAAA others(33): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02723.hp1 NA19030.hp1 HG02486.hp2 HG02723.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0012 a0001c0002t0004 a0001c0001t0002 a0001c0001t0012 a0001c0002t0004	a0001c0001t0002g0012 a0001c0001t0012g0023 a0001c0002t0004g0001 a0001c0001t0002g0012 a0001c0001t0012g0023 a0001c0002t0004g0001	3	74	0.0405	40	c.147 others(61): Show c.1473+12662_1473+12701dupTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTT	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	6/17			chr3	TogoVar
ERGIC1_chr5_172829251_172957683	172893898	T T	TACACACA others(33): Show TACACACATATATATGTGTGTATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	334	0.0030	40	c.83- others(55): Show c.83-3103_83-3102insCACACATATATATGTGTGTATATATATATA TACACACACA	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC1_chr5_172829251_172957683	172908345	G G	GGGGGGGA others(33): Show GGGGGGGAGAGAGGGGAGGGGGGGAGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0198 a0001c0001t0015g0198	1	334	0.0030	40	c.156 others(57): Show c.156-1316_156-1315insAGAGAGGGGAGGGGGGGAGGGGGGGGAG GGGGGAGGGGGG	ERGIC1	ENSG00000113719.17	transcript	ENST00000393784.8	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERGIC3_chr20_35537078_35562634	35539238	A A	ATATAACA others(33): Show ATATAACAGTTTATATATATAATATATATAACAGTTTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 NA18522.hp1 NA19030.hp2 HG03225.hp1 NA18522.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221	3	364	0.0082	40	c.-28 others(51): Show c.-2860_-2859insTATAACAGTTTATATATATAATATATATAACAGT TTATAT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2839		chr20	TogoVar
ERG_chr21_38375036_38503477	38429641	G G	GTATACAC others(33): Show GTATACACATGTACATATATACATATGTGTATATATACATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG00735.hp1 others(5): Show HG00323.hp2 HG00639.hp1 HG00735.hp1 HG01496.hp2 HG01517.hp2 HG03704.hp2 HG06807.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010	a0001c0001t0001g0275 a0001c0001t0001g0291 a0001c0001t0002g0087 others(5): Show a0001c0001t0001g0275 a0001c0001t0001g0291 a0001c0001t0002g0087 a0001c0001t0002g0134 a0001c0001t0002g0235 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0001t0010g0084	8	360	0.0222	40	c.237 others(57): Show c.237-6081_237-6080insTATGTATATATACACATATGTATATATG TACATGTGTATA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38429652	T T	TACATATA others(33): Show TACATATATACATATGTGTATATATACATGTATACACATGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00733.hp1 others(28): Show HG00280.hp1 HG00280.hp2 HG00733.hp1 HG01070.hp2 HG01099.hp2 HG01123.hp2 HG01256.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02486.hp1 HG02683.hp2 HG02723.hp2 HG02976.hp2 HG03017.hp2 HG03130.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03710.hp2 HG03831.hp1 HG04115.hp1 NA18612.hp1 NA18906.hp1 NA18943.hp1 NA18967.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0031	a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0112 others(28): Show a0001c0001t0001g0096 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0145 a0001c0001t0001g0190 a0001c0001t0001g0237 a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0002g0260 a0001c0001t0002g0324 a0001c0001t0002g0348 a0001c0001t0002g0352 a0001c0001t0003g0057 a0001c0001t0003g0062 a0001c0001t0003g0069 a0001c0001t0003g0178 a0001c0001t0003g0199 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0257 a0001c0001t0003g0262 a0001c0001t0003g0272 a0001c0001t0003g0321 a0001c0001t0003g0335 a0001c0001t0003g0336 a0001c0001t0004g0008 a0001c0001t0006g0035 a0001c0001t0031g0358	31	360	0.0861	40	c.237 others(57): Show c.237-6092_237-6091insTCATGTGTATACATGTATATATACACAT ATGTATATATGT	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	2/9			chr21	TogoVar
ERI3_chr1_44216070_44360257	44342826	T T	TATATATA others(33): Show TATATATAAATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	340	0.0029	40	c.212 others(57): Show c.212-3505_212-3504insTTATATATATATATATATATATATATAT ATATTTATATAT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	2/8			chr1	TogoVar

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