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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
EDIL3_chr5_83935554_84389880	84080298	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0083 a0001c0003t0001g0083	1	158	0.0063	19	c.652 others(38): Show c.652-13693_652-13692insTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	6/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84252493	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01168.hp1 HG01346.hp2 others(8): Show HG00642.hp1 HG01168.hp1 HG01346.hp2 HG02451.hp2 HG02896.hp2 HG03130.hp1 HG03195.hp1 HG03704.hp2 NA18944.hp2 NA18969.hp1 NA19058.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0002t0003 a0001c0007t0001 a0003c0005t0015	a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0025 others(8): Show a0001c0001t0001g0087 a0001c0001t0001g0120 a0001c0001t0002g0025 a0001c0001t0002g0082 a0001c0001t0002g0098 a0001c0001t0003g0103 a0001c0001t0004g0140 a0001c0001t0017g0015 a0001c0002t0003g0064 a0001c0007t0001g0126 a0003c0005t0015g0026	11	158	0.0696	19	c.196 others(36): Show c.196+1572_196+1590dupTTTTTTTTTTTTTTTTTTT	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	2/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84262659	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0126 a0001c0007t0001g0126	1	158	0.0063	19	c.68- others(34): Show c.68-8466_68-8448dupAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	1/10			chr5	TogoVar
EDIL3_chr5_83935554_84389880	84385862	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0052 a0001c0002t0003g0052	1	158	0.0063	19	c.-14 others(30): Show c.-1489_-1488insAAAAAAAAAAAAAAAAAAA	EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding		983		chr5	TogoVar
EDN3_chr20_59295611_59330992	59306595	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 NA19240.hp1 HG01891.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0096 a0001c0001t0002g0207 a0001c0001t0001g0096 a0001c0001t0002g0207	2	398	0.0050	19	c.365 others(36): Show c.365+4879_365+4897dupAAAAAAAAAAAAAAAAAAA	EDN3	ENSG00000124205.18	transcript	ENST00000337938.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
EDNRA_chr4_147476097_147549954	147505327	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	280	0.0036	19	c.421 others(38): Show c.421-14514_421-14496dupTTTTTTTTTTTTTTTTTTT	EDNRA	ENSG00000151617.17	transcript	ENST00000651419.1	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
EEF1A1_chr6_73510750_73526032	73524789	T T	TATATATA others(12): Show TATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	424	0.0024	19	c.-38 others(30): Show c.-3821_-3820insTATATATATATATATATAT	EEF1A1	ENSG00000156508.19	transcript	ENST00000309268.11	protein_coding		3758		chr6	TogoVar
EEF1AKMT1_chr13_20723731_20778961	20747462	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	348	0.0029	19	c.145 others(36): Show c.145-9676_145-9658dupAAAAAAAAAAAAAAAAAAA	EEF1AKMT1	ENSG00000150456.11	transcript	ENST00000382758.6	protein_coding	2/4			chr13	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01069.hp2 others(25): Show HG00438.hp1 HG00438.hp2 HG01069.hp2 HG01975.hp2 HG02071.hp2 HG02083.hp2 HG02155.hp1 HG02602.hp1 NA18612.hp1 NA18945.hp2 NA18953.hp1 NA18969.hp1 NA18970.hp1 NA18977.hp2 NA18978.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18999.hp1 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp1 NA19070.hp1 NA19082.hp1 NA19085.hp2 NA19088.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0001 a0005c0007 a0007c0003 a0001c0001 a0005c0007 a0007c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0014 a0005c0007t0002 a0007c0003t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0261 others(21): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0261 a0001c0001t0002g0266 a0001c0001t0002g0272 a0001c0001t0002g0292 a0001c0001t0002g0294 a0001c0001t0002g0299 a0001c0001t0002g0302 a0001c0001t0005g0005 a0001c0001t0005g0281 a0001c0001t0005g0282 a0001c0001t0005g0283 a0001c0001t0005g0284 a0001c0001t0005g0287 a0001c0001t0005g0290 a0001c0001t0005g0296 a0001c0001t0005g0301 a0001c0001t0005g0325 a0001c0001t0005g0347 a0001c0001t0013g0285 a0001c0001t0014g0289 a0005c0007t0002g0259 a0007c0003t0002g0015	28	358	0.0782	19	c.400 others(36): Show c.400-3626_400-3625insATATTTTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG01074.hp1 others(9): Show HG00280.hp1 HG00323.hp2 HG01074.hp1 HG01517.hp1 HG01952.hp2 HG03139.hp1 HG03486.hp1 HG04184.hp2 NA18943.hp2 NA18957.hp2 NA18960.hp1 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0010 a0001c0001t0002 a0001c0001t0006 a0001c0001t0010	a0001c0001t0002g0003 a0001c0001t0002g0264 a0001c0001t0002g0268 others(8): Show a0001c0001t0002g0003 a0001c0001t0002g0264 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0006g0274 a0001c0001t0010g0006	12	358	0.0335	19	c.400 others(36): Show c.400-3626_400-3625insATATATTTTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT2_chr10_124752834_124796887	124769233	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02683.hp1 NA18998.hp2 others(1): Show HG01496.hp2 HG02683.hp1 NA18998.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0271 a0001c0001t0002g0303 a0001c0001t0002g0002 a0001c0001t0002g0271 a0001c0001t0002g0303	4	358	0.0112	19	c.400 others(36): Show c.400-3626_400-3625insATATATATTTTTTTTTTTT	EEF1AKMT2	ENSG00000203791.15	transcript	ENST00000368836.7	protein_coding	4/6			chr10	TogoVar
EEF1AKMT3_chr12_57767614_57787541	57778293	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03195.hp1 HG00423.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0070 a0001c0002t0003g0090 a0001c0001t0003g0070 a0001c0002t0003g0090	2	362	0.0055	19	c.290 others(36): Show c.290-1947_290-1946insTTTTTTTTTTTTTTTTTTT	EEF1AKMT3	ENSG00000123427.17	transcript	ENST00000300209.13	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
EEF1B2_chr2_206154895_206167928	206167534	G G	GGGATTAC others(12): Show GGGATTACAGGCGTGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	360	0.0028	19	c.46 others(30): Show c.4651_*4652insGGATTACAGGCGTGAGCCA	EEF1B2	ENSG00000114942.15	transcript	ENST00000392222.7	protein_coding		4607		chr2	TogoVar
EEF1G_chr11_62554596_62578891	62558986	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	262	0.0038	19	c.69 others(28): Show c.692_*693insTTTTTTTTTTTTTTTTTTT	EEF1G	ENSG00000254772.10	transcript	ENST00000329251.5	protein_coding		609		chr11	TogoVar
EEFSEC_chr3_128148481_128413646	128152991	C C	CCGCCCCC others(12): Show CCGCCCCCCCCGCCCCCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	272	0.0037	19	c.-51 others(28): Show c.-517_-516insCGCCCCCCCCGCCCCCCTT	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding		489		chr3	TogoVar
EEFSEC_chr3_128148481_128413646	128293660	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0062 a0001c0002t0001g0062	1	272	0.0037	19	c.786 others(38): Show c.786+28888_786+28906dupAAAAAAAAAAAAAAAAAAA	EEFSEC	ENSG00000132394.11	transcript	ENST00000254730.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
EEPD1_chr7_36148254_36306538	36151852	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG01070.hp1 others(49): Show HG00323.hp2 HG00438.hp2 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01346.hp2 HG01515.hp1 HG02040.hp1 HG02132.hp1 HG02132.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02897.hp2 HG02970.hp1 HG03139.hp2 HG03453.hp2 HG03486.hp2 HG03654.hp1 HG03704.hp1 HG03704.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18967.hp2 NA18979.hp1 NA18982.hp1 NA18985.hp1 NA18985.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19082.hp1 NA19082.hp2 NA20300.hp1 NA20752.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0003 others(3): Show a0001c0001 a0001c0004 a0002c0003 a0002c0005 a0003c0002 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0014 a0001c0001t0023 a0001c0001t0035 a0001c0001t0056 a0001c0001t0057 a0001c0001t0068 a0001c0004t0025 a0002c0003t0001 a0002c0003t0002 a0002c0005t0036 a0002c0005t0044 a0003c0002t0017 a0004c0007t0003	a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0113 others(49): Show a0001c0001t0001g0082 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0148 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0211 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0300 a0001c0001t0002g0074 a0001c0001t0002g0084 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0146 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0167 a0001c0001t0002g0172 a0001c0001t0002g0177 a0001c0001t0003g0136 a0001c0001t0003g0228 a0001c0001t0006g0178 a0001c0001t0009g0313 a0001c0001t0009g0315 a0001c0001t0009g0316 a0001c0001t0009g0320 a0001c0001t0009g0328 a0001c0001t0010g0101 a0001c0001t0010g0194 a0001c0001t0014g0120 a0001c0001t0023g0073 a0001c0001t0035g0100 a0001c0001t0035g0327 a0001c0001t0056g0076 a0001c0001t0057g0174 a0001c0001t0068g0305 a0001c0004t0025g0059 a0002c0003t0001g0162 a0002c0003t0002g0081 a0002c0005t0036g0180 a0002c0005t0044g0095 a0003c0002t0017g0017 a0004c0007t0003g0169	52	346	0.1503	19	c.-20 others(30): Show c.-2015_-2014insTTTTTTTTTTTTTTTTTTT	EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding		1401		chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	AAATATAT others(12): Show AAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	428	0.0023	19	c.107 others(34): Show c.107-670_107-669insATATATATATATATATATT	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB10_chr7_105560124_105586493	105570240	A A	ATATATAT others(12): Show ATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0238 a0001c0001t0001g0238	1	428	0.0023	19	c.107 others(34): Show c.107-670_107-669insATATATATATATATATATA	EFCAB10	ENSG00000185055.11	transcript	ENST00000480514.6	protein_coding	1/4			chr7	TogoVar
EFCAB13_chr17_47318955_47446312	47424874	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02602.hp2 HG03704.hp2 others(8): Show HG02109.hp2 HG02602.hp2 HG03704.hp2 HG03710.hp1 HG03927.hp2 HG04184.hp2 NA18960.hp1 NA18981.hp2 NA19004.hp1 NA19030.hp2 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0005c0005t0001 a0005c0005t0007	a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0128 others(8): Show a0001c0001t0001g0088 a0001c0001t0001g0108 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0158 a0001c0001t0005g0256 a0005c0005t0001g0069 a0005c0005t0001g0075 a0005c0005t0001g0203 a0005c0005t0001g0207 a0005c0005t0007g0213	11	356	0.0309	19	c.249 others(38): Show c.2495-4936_2495-4918dupTTTTTTTTTTTTTTTTTTT	EFCAB13	ENSG00000178852.16	transcript	ENST00000331493.7	protein_coding	23/24		INFO_REALIGN_3_PRIME	chr17	TogoVar
EFCAB14_chr1_46670159_46724114	46723391	A A	AAATTAAC others(12): Show AAATTAACCCTGGAGTACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0170 a0001c0001t0003g0170	1	374	0.0027	19	c.-53 others(30): Show c.-5305_-5304insAAGTACTCCAGGGTTAATT	EFCAB14	ENSG00000159658.15	transcript	ENST00000371933.8	protein_coding		4278		chr1	TogoVar
EFCAB2_chr1_244964682_245092837	244980040	T T	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	290	0.0035	19	c.25+ others(34): Show c.25+9608_25+9626dupAAAAAAAAAAAAAAAAAAA	EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
EFCAB6_chr22_43523778_43817305	43548539	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	290	0.0035	19	c.364 others(38): Show c.3648+6311_3648+6329dupTTTTTTTTTTTTTTTTTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	27/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GAAAGAAA others(12): Show GAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0022 a0004c0005t0001g0022	1	290	0.0035	19	c.246 others(38): Show c.2466-2244_2466-2243insTTTCTTTCTTTCTTTCTTT	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43618165	G G	GGAAGGAA others(12): Show GGAAGGAAGGAAGGAAGAAA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	290	0.0035	19	c.246 others(38): Show c.2466-2244_2466-2243insTTTCTTCCTTCCTTCCTTC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	20/31			chr22	TogoVar
EFCAB6_chr22_43523778_43817305	43653212	A A	ACAAGAAG others(12): Show ACAAGAAGAACTGCAGACTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0093 a0005c0004t0001g0093	1	290	0.0035	19	c.198 others(40): Show c.1983+13873_1983+13891dupGAGTCTGCAGTTCTTCTTG	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	17/31			chr22	TogoVar
EFCAB8_chr20_32853923_32966845	32875502	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG01081.hp2 others(9): Show HG00280.hp1 HG00639.hp2 HG01081.hp2 HG01099.hp2 HG01516.hp1 HG01516.hp2 HG01975.hp2 HG01993.hp2 HG03017.hp2 HG03492.hp1 HG04199.hp2 NA18951.hp2	a0004 a0006 a0008 others(3): Show a0004 a0006 a0008 a0013 a0021 a0029	a0004c0004 a0006c0005 a0008c0007 others(3): Show a0004c0004 a0006c0005 a0008c0007 a0013c0020 a0021c0062 a0029c0059	a0004c0004t0001 a0004c0004t0003 a0006c0005t0003 others(4): Show a0004c0004t0001 a0004c0004t0003 a0006c0005t0003 a0008c0007t0003 a0013c0020t0003 a0021c0062t0001 a0029c0059t0003	a0004c0004t0001g0089 a0004c0004t0003g0068 a0004c0004t0003g0069 others(9): Show a0004c0004t0001g0089 a0004c0004t0003g0068 a0004c0004t0003g0069 a0004c0004t0003g0189 a0004c0004t0003g0253 a0006c0005t0003g0065 a0006c0005t0003g0070 a0006c0005t0003g0237 a0008c0007t0003g0281 a0013c0020t0003g0254 a0021c0062t0001g0072 a0029c0059t0003g0071	12	284	0.0423	19	c.209 others(34): Show c.209-406_209-405insTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935188	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	284	0.0035	19	c.279 others(38): Show c.2790+3855_2790+3856insTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCAB8_chr20_32853923_32966845	32935192	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0005 a0010c0009t0005	a0010c0009t0005g0007 a0010c0009t0005g0007	1	284	0.0035	19	c.279 others(38): Show c.2790+3863_2790+3881dupTTTTTTTTTTTTTTTTTTT	EFCAB8	ENSG00000215529.13	transcript	ENST00000400522.9	protein_coding	22/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
EFCC1_chr3_128996304_129045742	129042473	A A	AGGAAGGA others(12): Show AGGAAGGAATCTCTGCGCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0051 a0002c0002t0001g0051	1	354	0.0028	19	c.26 others(30): Show c.2625_*2626insGGAAGGAATCTCTGCGCTT	EFCC1	ENSG00000114654.8	transcript	ENST00000683648.1	protein_coding		1732		chr3	TogoVar
EFEMP1_chr2_55860967_55928782	55892533	A A	ATAGGATT others(12): Show ATAGGATTAAATGGCTCTGT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp2 HG00597.hp1 others(52): Show HG00438.hp1 HG00544.hp2 HG00597.hp1 HG01109.hp2 HG01167.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG02015.hp1 HG02055.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02602.hp1 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG04204.hp1 HG06807.hp2 NA18944.hp2 NA18950.hp2 NA18951.hp2 NA18963.hp1 NA18972.hp1 NA18978.hp2 NA18979.hp1 NA18982.hp1 NA18989.hp2 NA18999.hp1 NA19030.hp1 NA19043.hp2 NA19055.hp2 NA19057.hp1 NA19064.hp2 NA19076.hp1 NA19081.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0002t0001 a0001c0003t0002	a0001c0001t0001g0023 a0001c0001t0001g0076 a0001c0001t0001g0079 others(49): Show a0001c0001t0001g0023 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0231 a0001c0001t0002g0030 a0001c0001t0002g0276 a0001c0001t0002g0283 a0001c0001t0003g0034 a0001c0001t0003g0038 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0056 a0001c0001t0004g0032 a0001c0001t0004g0039 a0001c0001t0005g0074 a0001c0001t0005g0075 a0001c0001t0005g0077 a0001c0001t0005g0095 a0001c0001t0005g0118 a0001c0001t0005g0128 a0001c0001t0005g0129 a0001c0001t0005g0165 a0001c0001t0006g0088 a0001c0001t0007g0012 a0001c0001t0007g0041 a0001c0001t0007g0044 a0001c0001t0007g0045 a0001c0001t0007g0046 a0001c0001t0018g0195 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0003t0002g0289 a0001c0003t0002g0290 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0003t0002g0293	55	350	0.1571	19	c.518 others(38): Show c.518-10818_518-10800dupACAGAGCCATTTAATCCTA	EFEMP1	ENSG00000115380.20	transcript	ENST00000355426.8	protein_coding	5/11			chr2	TogoVar
EFHC2_chrX_44142872_44348672	44283484	T T	TCGGAAGC others(12): Show TCGGAAGCACTTTGACTCCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	221	0.0045	19	c.232 others(38): Show c.232-10667_232-10649dupGGGAGTCAAAGTGCTTCCG	EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	2/14			chrX	TogoVar
EFNA5_chr5_107371894_107675937	107399315	A A	AAGGAAAC others(12): Show AAGGAAACAGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp1 HG02647.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0098 a0001c0001t0054 a0001c0001t0098	a0001c0001t0054g0140 a0001c0001t0098g0084 a0001c0001t0054g0140 a0001c0001t0098g0084	2	190	0.0105	19	c.419 others(38): Show c.419-11545_419-11544insCCTTTCCTTTCTGTTTCCT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	2/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107448866	T T	TAAATAAA others(12): Show TAAATAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0173 a0001c0001t0011g0173	1	190	0.0053	19	c.126 others(38): Show c.126-21358_126-21357insTATTTTATTTTATTTATTT	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNA5_chr5_107371894_107675937	107591918	A A	ATATAATA others(12): Show ATATAATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0129 a0001c0001t0037g0129	1	190	0.0053	19	c.125 others(38): Show c.125+78570_125+78571insATATATAATATATATTATA	EFNA5	ENSG00000184349.14	transcript	ENST00000333274.11	protein_coding	1/4			chr5	TogoVar
EFNB3_chr17_7700202_7716372	7714166	T T	TGTGTGTG others(12): Show TGTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	434	0.0023	19	c.45 others(30): Show c.4590_*4591insGTGTGTGTGTGTGTGTGTG	EFNB3	ENSG00000108947.5	transcript	ENST00000226091.3	protein_coding		2795		chr17	TogoVar
EFR3A_chr8_131899093_132018642	132018174	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0150 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0001g0150 a0002c0002t0002g0242 a0002c0002t0002g0244	3	412	0.0073	19	c.72 others(30): Show c.7279_*7280insAAAAAAAAAAAAAAAAAAA	EFR3A	ENSG00000132294.15	transcript	ENST00000254624.10	protein_coding		4533		chr8	TogoVar
EFR3B_chr2_25037076_25164135	25046506	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18747.hp1 NA18961.hp1 HG00423.hp1 NA18747.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0003 a0001c0015t0008 a0001c0001t0003 a0001c0015t0008	a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0015t0008g0078 a0001c0001t0003g0079 a0001c0001t0003g0080 a0001c0015t0008g0078	3	306	0.0098	19	c.7+4 others(32): Show c.7+4203_7+4204insTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFR3B_chr2_25037076_25164135	25080283	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01071.hp2 HG01074.hp2 others(7): Show HG00140.hp1 HG01071.hp2 HG01074.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 NA19004.hp2 NA19056.hp1 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0011 a0001c0003t0006 others(2): Show a0001c0001t0001 a0001c0001t0011 a0001c0003t0006 a0001c0003t0010 a0001c0003t0018	a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0156 others(7): Show a0001c0001t0001g0127 a0001c0001t0001g0135 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0011g0138 a0001c0003t0006g0117 a0001c0003t0010g0081 a0001c0003t0010g0090 a0001c0003t0018g0159	10	306	0.0327	19	c.8-1 others(34): Show c.8-11032_8-11014dupTTTTTTTTTTTTTTTTTTT	EFR3B	ENSG00000084710.14	transcript	ENST00000403714.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EFS_chr14_23351406_23370172	23353338	A A	ATCACCCC others(12): Show ATCACCCCTAGCTTCAGTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0003 a0002c0003t0002g0003	1	404	0.0025	19	c.38 others(30): Show c.3887_*3888insGGACTGAAGCTAGGGGTGA	EFS	ENSG00000100842.13	transcript	ENST00000216733.8	protein_coding		3067		chr14	TogoVar
EGFL6_chrX_13564601_13638575	13613179	T T	TATATATA others(12): Show TATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0044 a0001c0001t0005g0044	1	302	0.0033	19	c.779 others(36): Show c.779-4551_779-4550insATATATATATATATATATA	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	7/11			chrX	TogoVar
EGFL6_chrX_13564601_13638575	13623377	G G	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp1 others(55): Show HG00597.hp1 HG00639.hp2 HG00673.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp2 HG01175.hp1 HG01433.hp1 HG01928.hp1 HG01975.hp2 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02129.hp1 HG02132.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp2 HG02523.hp1 HG02809.hp1 HG02886.hp2 HG02976.hp1 HG03195.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG03942.hp1 NA18906.hp2 NA18948.hp1 NA18949.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18972.hp1 NA18972.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp1 NA19003.hp2 NA19012.hp1 NA19055.hp1 NA19058.hp1 NA19060.hp1 NA19065.hp2 NA19068.hp1 NA19078.hp1 NA19084.hp1 NA19091.hp1 NA20129.hp1 NA21309.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0001 a0001c0004 a0001c0005 others(4): Show a0001c0001 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0005c0012 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0011 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0007t0003 a0001c0008t0001 a0005c0012t0001 a0008c0017t0003	a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0110 others(54): Show a0001c0001t0001g0059 a0001c0001t0001g0080 a0001c0001t0001g0110 a0001c0001t0001g0161 a0001c0001t0001g0166 a0001c0001t0001g0170 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0196 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0274 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0070 a0001c0001t0002g0101 a0001c0001t0002g0108 a0001c0001t0002g0112 a0001c0001t0002g0135 a0001c0001t0002g0138 a0001c0001t0002g0141 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0229 a0001c0001t0003g0022 a0001c0001t0003g0076 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0122 a0001c0001t0003g0233 a0001c0001t0008g0011 a0001c0001t0008g0012 a0001c0001t0011g0210 a0001c0004t0001g0066 a0001c0004t0002g0124 a0001c0004t0003g0003 a0001c0005t0001g0231 a0001c0005t0001g0246 a0001c0007t0003g0172 a0001c0008t0001g0295 a0005c0012t0001g0050 a0008c0017t0003g0296	58	302	0.1921	19	c.118 others(36): Show c.1184-445_1184-427dupTTTTTTTTTTTTTTTTTTT	EGFL6	ENSG00000198759.12	transcript	ENST00000361306.6	protein_coding	9/11		INFO_REALIGN_3_PRIME	chrX	TogoVar
EGFL7_chr9_136657916_136677678	136674659	A A	ACGATGAG others(12): Show ACGATGAGGGGCCCGGGGCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG06807.hp1 HG02922.hp1 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0038 a0002c0002t0009g0038	2	432	0.0046	19	c.23 others(30): Show c.2373_*2374insCGATGAGGGGCCCGGGGCT	EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding		1982		chr9	TogoVar
EGFR_chr7_55014017_55216628	55196178	A A	ATTTTTTT others(12): Show ATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03195.hp1 HG01934.hp2 HG03195.hp1	a0001 a0001	a0001c0007 a0001c0012 a0001c0007 a0001c0012	a0001c0007t0010 a0001c0012t0016 a0001c0007t0010 a0001c0012t0016	a0001c0007t0010g0225 a0001c0012t0016g0218 a0001c0007t0010g0225 a0001c0012t0016g0218	2	250	0.0080	19	c.270 others(38): Show c.2702-2524_2702-2523insTTTTTTTTTTTTTTTTTTT	EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	22/27		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHBP1_chr2_62700713_63051487	63043920	C C	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	198	0.0051	19	c.327 others(38): Show c.3278-1113_3278-1095dupTTTTTTTTTTTTTTTTTTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	21/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHD2_chr19_47708422_47748134	47731279	A A	AAAAAAAA others(12): Show AAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp2 NA21309.hp2 HG02683.hp2 NA21309.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0013 a0001c0010t0005g0281 a0001c0010t0005g0013 a0001c0010t0005g0281	2	398	0.0050	19	c.915 others(36): Show c.915+5056_915+5057insAAAAAAAAAAAAATATATA	EHD2	ENSG00000024422.12	transcript	ENST00000263277.8	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
EHD3_chr2_31229152_31274451	31245553	A A	ATATATAT others(12): Show ATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	378	0.0027	19	c.404 others(36): Show c.404+1104_404+1105insATATATATATATTTTTTTT	EHD3	ENSG00000013016.16	transcript	ENST00000322054.10	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHHADH_chr3_185185624_185259049	185194800	C C	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02698.hp1 NA19065.hp2 HG00642.hp1 HG02698.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0001g0277 a0001c0001t0001g0170 a0001c0001t0001g0222 a0001c0001t0001g0277	3	348	0.0086	19	c.911 others(36): Show c.911-1332_911-1314dupTTTTTTTTTTTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	6/6			chr3	TogoVar
EHHADH_chr3_185185624_185259049	185228257	A A	AAAAAAAA others(12): Show AAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	348	0.0029	19	c.463 others(36): Show c.463+1174_463+1175insATATATATATTTTTTTTTT	EHHADH	ENSG00000113790.11	transcript	ENST00000231887.8	protein_coding	4/6			chr3	TogoVar
EHMT1_chr9_137614005_137841127	137675802	T T	TTTTTTTT others(12): Show TTTTTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0169 a0001c0004t0001g0169	1	170	0.0059	19	c.22- others(36): Show c.22-35165_22-35164insTTTTTTTTTTTTTTTTTTG	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	1/26			chr9	TogoVar

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