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
EML1_chr14_99788413_99947060	99796186	CAGAGAGA others(15): Show CAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	288	0.0035	-22	c.67+ others(37): Show c.67+2667_67+2688delGAGAGAGAGAGAGAGAGAGAGA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99919403	CACACACA others(15): Show CACACACATACGCATGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01928.hp2 HG02895.hp1 HG01109.hp1 HG01928.hp2 HG02895.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0001 a0003c0002t0006 a0001c0003t0001 a0003c0002t0006	a0001c0003t0001g0163 a0003c0002t0006g0042 a0003c0002t0006g0088 a0001c0003t0001g0163 a0003c0002t0006g0042 a0003c0002t0006g0088	3	288	0.0104	-22	c.182 others(41): Show c.1821-1378_1821-1357delTACGCATGCACACAGACACACA	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99919425	GACACACA others(15): Show GACACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02818.hp2 HG02145.hp2 HG02818.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0018 a0001c0007t0002 a0001c0007t0018	a0001c0007t0002g0005 a0001c0007t0018g0241 a0001c0007t0002g0005 a0001c0007t0018g0241	2	288	0.0069	-22	c.182 others(41): Show c.1821-1347_1821-1326delACACACACACACACACACACAC	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA18906.hp2 NA20300.hp1 HG01891.hp2 NA18906.hp2 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0030 a0001c0034 a0001c0002 a0001c0030 a0001c0034	a0001c0002t0006 a0001c0030t0038 a0001c0034t0047 a0001c0002t0006 a0001c0030t0038 a0001c0034t0047	a0001c0002t0006g0003 a0001c0030t0038g0074 a0001c0034t0047g0032 a0001c0002t0006g0003 a0001c0030t0038g0074 a0001c0034t0047g0032	3	264	0.0114	-22	c.197 others(41): Show c.197+19684_197+19705delACACACACACACACACACACAC	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
ENGASE_chr17_79069824_79093599	79089720	GTGCTCCC others(15): Show GTGCTCCCTGCCTCGCCAGGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0002 a0001c0003t0003g0002	1	420	0.0024	-22	c.33 others(33): Show c.3372_*3393delTGCTCCCTGCCTCGCCAGGGGT	ENGASE	ENSG00000167280.17	transcript	ENST00000579016.6	protein_coding		1122		chr17	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG01074.hp1 others(14): Show HG00280.hp2 HG00544.hp2 HG01074.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG02486.hp1 HG02572.hp2 HG02723.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 NA18990.hp1 NA19065.hp2 NA19066.hp2 NA19082.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0076 others(11): Show a0001c0001t0001g0017 a0001c0001t0001g0044 a0001c0001t0001g0076 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0171 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0209	17	384	0.0443	-22	c.594 others(39): Show c.594+1777_594+1798delTATATATATATATATATATATA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5			chr10	TogoVar
ENKUR_chr10_24976985_25021158	24994221	ATCTCTCT others(15): Show ATCTCTCTTCCTTTTTCTTTATC	A A	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	384	0.0026	-22	c.447 others(39): Show c.447+1403_447+1424delGATAAAGAAAAAGGAAGAGAGA	ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	3/5			chr10	TogoVar
ENOSF1_chr18_665318_717630	667279	GGGATGGT others(15): Show GGGATGGTGATGGAGATGGTGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0002 a0001c0006t0004g0002	1	418	0.0024	-22	c.70 others(33): Show c.7004_*7025delATCACCATCTCCATCACCATCC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3038		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(15): Show CATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02717.hp1 others(2): Show HG01109.hp1 HG02109.hp1 HG02717.hp1 HG03041.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 others(2): Show a0001c0001t0005g0170 a0001c0001t0005g0172 a0001c0001t0005g0173 a0001c0001t0014g0110 a0001c0001t0014g0117	5	188	0.0266	-22	c.161 others(43): Show c.1612-11112_1612-11091delATATATATATATATATATATAT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460809	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG01109.hp2 others(9): Show HG00544.hp2 HG00621.hp2 HG01109.hp2 HG01943.hp1 HG01975.hp2 HG01978.hp1 HG02155.hp2 HG02273.hp1 NA18959.hp1 NA19056.hp1 NA19081.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 others(4): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0023 a0001c0002t0001 a0001c0002t0006	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0005g0152 others(9): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0005g0152 a0001c0001t0005g0155 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0010g0129 a0001c0001t0023g0132 a0001c0002t0001g0030 a0001c0002t0001g0128 a0001c0002t0006g0151 a0001c0002t0006g0160	12	188	0.0638	-22	c.-75 others(41): Show c.-75+23178_-75+23199delATTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43593669	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	188	0.0053	-22	c.-21 others(43): Show c.-219+73788_-219+73809delGTGTGTGTGTGTGTGTGTGTGT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43618121	TTGTCAGA others(15): Show TTGTCAGAATGTATAGACTGTGA	T T	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0175 a0001c0002t0006g0175	1	188	0.0053	-22	c.-21 others(43): Show c.-219+49336_-219+49357delTCACAGTCTATACATTCTGACA	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	2/16			chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790610	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02572.hp2 HG02818.hp2 others(7): Show HG02135.hp1 HG02572.hp2 HG02818.hp2 NA18522.hp2 NA18944.hp2 NA18954.hp1 NA18959.hp1 NA18977.hp1 NA19004.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 others(3): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0002t0006	a0001c0001t0005g0149 a0001c0001t0007g0134 a0001c0001t0007g0157 others(7): Show a0001c0001t0005g0149 a0001c0001t0007g0134 a0001c0001t0007g0157 a0001c0001t0030g0150 a0001c0001t0031g0159 a0001c0001t0033g0156 a0001c0002t0006g0151 a0001c0002t0006g0154 a0001c0002t0006g0158 a0001c0002t0006g0160	10	188	0.0532	-22	c.-42 others(33): Show c.-4265_-4244delCTTTTTTTTTTTTTTTTTTTTT	ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding		3639		chr13	TogoVar
ENPP6_chr4_184083706_184222873	184101304	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02818.hp2 HG03139.hp2 others(3): Show HG02723.hp2 HG02818.hp2 HG03139.hp2 NA18954.hp2 NA19030.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0009	a0001c0002t0009 a0001c0003t0003 a0002c0001t0001 others(1): Show a0001c0002t0009 a0001c0003t0003 a0002c0001t0001 a0002c0009t0003	a0001c0002t0009g0054 a0001c0002t0009g0142 a0001c0003t0003g0219 others(3): Show a0001c0002t0009g0054 a0001c0002t0009g0142 a0001c0003t0003g0219 a0002c0001t0001g0313 a0002c0001t0001g0315 a0002c0009t0003g0110	6	320	0.0188	-22	c.994 others(39): Show c.994-3958_994-3937delCACACACACACACACACACACA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	6/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184119312	GGTGTGTG others(15): Show GGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG02300.hp2 HG03225.hp2 others(2): Show HG01975.hp1 HG02300.hp2 HG03225.hp2 HG03516.hp2 NA18951.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0003 a0004c0006 a0001c0002 a0001c0003 a0004c0006	a0001c0002t0002 a0001c0003t0003 a0004c0006t0014 a0001c0002t0002 a0001c0003t0003 a0004c0006t0014	a0001c0002t0002g0146 a0001c0003t0003g0024 a0001c0003t0003g0114 others(2): Show a0001c0002t0002g0146 a0001c0003t0003g0024 a0001c0003t0003g0114 a0001c0003t0003g0130 a0004c0006t0014g0244	5	320	0.0156	-22	c.534 others(39): Show c.534-1434_534-1413delACACACACACACACACACACAC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184220431	AAGGGAAA others(15): Show AAGGGAAAGGGAGGGATGGGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0022 a0002c0001t0022	a0002c0001t0022g0212 a0002c0001t0022g0212	1	320	0.0031	-22	c.-26 others(33): Show c.-2634_-2613delCTTCCCATCCCTCCCTTTCCCT	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding		2559		chr4	TogoVar
ENPP7_chr17_79725943_79747219	79736536	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0174 a0002c0001t0001g0174	1	430	0.0023	-22	c.102 others(39): Show c.1027-487_1027-466delTGTGTGTGTGTGTGTGTGTGTG	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79746195	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01069.hp2 others(23): Show HG00733.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp1 HG01175.hp2 HG01928.hp2 HG01993.hp1 HG02004.hp1 HG02071.hp2 HG02293.hp1 HG02300.hp2 HG03491.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18965.hp1 NA18966.hp1 NA18970.hp1 NA18995.hp2 NA19005.hp2 NA19056.hp1 NA19064.hp2 NA19079.hp1 NA19081.hp2 NA19090.hp1 NA19090.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0012	a0001c0002 a0001c0003 a0001c0004 others(6): Show a0001c0002 a0001c0003 a0001c0004 a0001c0026 a0001c0029 a0002c0001 a0005c0016 a0006c0014 a0012c0024	a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 others(6): Show a0001c0002t0001 a0001c0003t0001 a0001c0004t0002 a0001c0026t0001 a0001c0029t0002 a0002c0001t0001 a0005c0016t0001 a0006c0014t0001 a0012c0024t0001	a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0018 others(17): Show a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0018 a0001c0002t0001g0092 a0001c0002t0001g0216 a0001c0003t0001g0065 a0001c0003t0001g0212 a0001c0003t0001g0224 a0001c0004t0002g0036 a0001c0026t0001g0017 a0001c0029t0002g0082 a0002c0001t0001g0051 a0002c0001t0001g0052 a0002c0001t0001g0055 a0002c0001t0001g0058 a0002c0001t0001g0149 a0002c0001t0001g0169 a0005c0016t0001g0026 a0006c0014t0001g0002 a0012c0024t0001g0002	26	430	0.0605	-22	c.44 others(33): Show c.4419_*4440delAAAAAAAAAAAAAAAAAAAAAA	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding		3977		chr17	TogoVar
ENTPD3_chr3_40382184_40433744	40385959	GCACACAC others(15): Show GCACACACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01255.hp1 others(18): Show HG00639.hp1 HG01109.hp1 HG01255.hp1 HG01884.hp1 HG02451.hp2 HG02559.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02922.hp1 HG03130.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 NA18906.hp1 NA19030.hp2 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0004 a0006c0007 a0001c0001 a0001c0004 a0006c0007	a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 others(2): Show a0001c0001t0002 a0001c0001t0010 a0001c0001t0011 a0001c0004t0002 a0006c0007t0002	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0037 others(13): Show a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0058 a0001c0001t0010g0036 a0001c0001t0011g0059 a0001c0004t0002g0016 a0001c0004t0002g0043 a0001c0004t0002g0044 a0001c0004t0002g0045 a0006c0007t0002g0008 a0006c0007t0002g0035	21	374	0.0562	-22	c.-13 others(33): Show c.-1314_-1293delCACACACACACACACACACACA	ENTPD3	ENSG00000168032.10	transcript	ENST00000301825.8	protein_coding		1224		chr3	TogoVar
ENTPD6_chr20_25190712_25233075	25200798	ATTTTCCT others(15): Show ATTTTCCTCCTCCTTTTTTACTT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03139.hp1 HG02559.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0123 a0001c0001t0014g0201 a0001c0001t0014g0123 a0001c0001t0014g0201	2	380	0.0053	-22	c.-16 others(39): Show c.-16+4950_-16+4971delACTTTTTTCCTCCTCCTTTTTT	ENTPD6	ENSG00000197586.13	transcript	ENST00000376652.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr20	TogoVar
ENTPD7_chr10_99654509_99716241	99700393	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0124 a0002c0002t0001g0124	1	408	0.0025	-22	c.133 others(39): Show c.1336-559_1336-538delATGTGTGTGTGTGTGTGTGTGT	ENTPD7	ENSG00000198018.7	transcript	ENST00000370489.5	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTREP1_chr9_69320215_69397456	69367668	CACACATA others(15): Show CACACATATATAAATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02135.hp2 HG02683.hp2 others(2): Show HG00099.hp2 HG02135.hp2 HG02683.hp2 HG06807.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0086 others(2): Show a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0004g0240	5	342	0.0146	-22	c.472 others(39): Show c.472-3819_472-3798delAATATATATATACACATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP1_chr9_69320215_69397456	69367708	TATATATA others(15): Show TATATATACACATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(91): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02145.hp2 HG02273.hp2 HG02300.hp1 HG02572.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02698.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18939.hp2 NA18942.hp2 NA18951.hp2 NA18955.hp2 NA18960.hp2 NA18962.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18985.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp2 NA18998.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19057.hp2 NA19058.hp1 NA19067.hp1 NA19072.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19085.hp1 NA19087.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008	a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 others(83): Show a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0139 a0001c0001t0002g0141 a0001c0001t0002g0144 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0182 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0308 a0001c0001t0002g0312 a0001c0001t0004g0246 a0001c0001t0004g0248 a0001c0001t0004g0249 a0001c0001t0004g0250 a0001c0001t0004g0259 a0001c0001t0004g0261 a0001c0001t0004g0269 a0001c0001t0004g0271 a0001c0001t0005g0268 a0001c0001t0008g0101	94	342	0.2749	-22	c.472 others(39): Show c.472-3783_472-3762delCACATATATATAAAAATATATA	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29444228	AAGAAAGA others(15): Show AAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0031 a0002c0031	a0002c0031t0040 a0002c0031t0040	a0002c0031t0040g0080 a0002c0031t0040g0080	1	125	0.0080	-22	c.220 others(41): Show c.220-62419_220-62398delCTTTCTTTCTTTCTTTCTTTCT	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155258318	CTTTTTTT others(15): Show CTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp1 HG02965.hp2 HG02895.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0152 a0001c0001t0001g0154	2	395	0.0051	-22	c.-34 others(33): Show c.-3463_-3442delAAAAAAAAAAAAAAAAAAAAAA	ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding		2836		chr1	TogoVar
EOMES_chr3_27710953_27727323	27720442	TGCAGTGA others(15): Show TGCAGTGAACAGAATGCTGGTAG	T T	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0058 a0005c0006t0002g0058	1	400	0.0025	-22	c.882 others(37): Show c.882-139_882-118delCTACCAGCATTCTGTTCACTGC	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5			chr3	TogoVar
EOMES_chr3_27710953_27727323	27720531	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01070.hp2 HG01168.hp2 others(12): Show HG00738.hp1 HG01070.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp2 HG01361.hp2 HG02055.hp1 HG02145.hp2 HG02886.hp1 HG03098.hp1 HG03130.hp1 HG03209.hp1 HG03654.hp2 NA19240.hp1 NA21309.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0007 a0002c0002 a0004c0007	a0002c0002t0001 a0002c0002t0003 a0004c0007t0001 a0002c0002t0001 a0002c0002t0003 a0004c0007t0001	a0002c0002t0001g0007 a0002c0002t0003g0038 a0004c0007t0001g0061 a0002c0002t0001g0007 a0002c0002t0003g0038 a0004c0007t0001g0061	15	400	0.0375	-22	c.882 others(37): Show c.882-228_882-207delTTTTTTTTTTTTTTTTTTTTTT	EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding	1/5			chr3	TogoVar
EP300_chr22_41087592_41185077	41110282	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02886.hp2 HG02970.hp2 others(3): Show HG02109.hp1 HG02886.hp2 HG02970.hp2 HG03486.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0015 a0001c0001t0025 a0001c0001t0041 others(1): Show a0001c0001t0015 a0001c0001t0025 a0001c0001t0041 a0001c0028t0015	a0001c0001t0015g0189 a0001c0001t0015g0195 a0001c0001t0015g0196 others(3): Show a0001c0001t0015g0189 a0001c0001t0015g0195 a0001c0001t0015g0196 a0001c0001t0025g0188 a0001c0001t0041g0187 a0001c0028t0015g0197	6	300	0.0200	-22	c.95- others(37): Show c.95-6888_95-6867delTTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	1/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167570	GTGTGTGT others(15): Show GTGTGTGTGTGTGTGTATATATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02486.hp2 HG01891.hp1 HG02486.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0010 a0001c0006t0003 a0001c0006t0010	a0001c0006t0003g0044 a0001c0006t0010g0042 a0001c0006t0003g0044 a0001c0006t0010g0042	2	300	0.0067	-22	c.387 others(39): Show c.3875-877_3875-856delGTGTGTGTGTGTGTATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167580	GTGTGTAT others(15): Show GTGTGTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show HG02109.hp2 HG02145.hp1 HG02615.hp2 HG02622.hp2 HG03041.hp1 HG03098.hp1 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 others(2): Show a0001c0004t0003 a0001c0004t0004 a0001c0004t0026 a0001c0004t0044 a0001c0013t0004	a0001c0004t0003g0003 a0001c0004t0003g0008 a0001c0004t0004g0006 others(5): Show a0001c0004t0003g0003 a0001c0004t0003g0008 a0001c0004t0004g0006 a0001c0004t0004g0011 a0001c0004t0004g0040 a0001c0004t0026g0004 a0001c0004t0044g0015 a0001c0013t0004g0007	8	300	0.0267	-22	c.387 others(39): Show c.3875-867_3875-846delGTGTATATATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167582	GTGTATAT others(15): Show GTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0010 a0001c0004t0003g0010	1	300	0.0033	-22	c.387 others(39): Show c.3875-865_3875-844delGTATATATATATATATATATAT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167584	GTATATAT others(15): Show GTATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02027.hp2 others(3): Show HG00597.hp1 HG00609.hp1 HG02027.hp2 HG02523.hp2 HG04115.hp1 NA18747.hp2	a0002 a0010 a0002 a0010	a0002c0003 a0010c0026 a0002c0003 a0010c0026	a0002c0003t0001 a0010c0026t0001 a0002c0003t0001 a0010c0026t0001	a0002c0003t0001g0104 a0002c0003t0001g0181 a0002c0003t0001g0182 others(3): Show a0002c0003t0001g0104 a0002c0003t0001g0181 a0002c0003t0001g0182 a0002c0003t0001g0183 a0002c0003t0001g0184 a0010c0026t0001g0185	6	300	0.0200	-22	c.387 others(39): Show c.3875-834_3875-813delTATATATATATATATATATATA	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41167814	GTTTTTTT others(15): Show GTTTTTTTTTTTGTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0030 a0001c0030	a0001c0030t0042 a0001c0030t0042	a0001c0030t0042g0041 a0001c0030t0042g0041	1	300	0.0033	-22	c.387 others(39): Show c.3875-623_3875-602delGTTTTTTTTTTTTTTTTTTTTT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	23/30		INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179880	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0285 a0001c0001t0047g0285	1	300	0.0033	-22	c.94 others(31): Show c.946_*967delACACACACACACACACACACAC	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	946	INFO_REALIGN_3_PRIME	chr22	TogoVar
EP300_chr22_41087592_41185077	41179902	ACACACAC others(15): Show ACACACACACACACACACACACT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01175.hp2 HG03491.hp2 HG06807.hp1 others(1): Show HG01175.hp2 HG03491.hp2 HG06807.hp1 NA20805.hp2	a0002 a0011 a0002 a0011	a0002c0003 a0011c0012 a0002c0003 a0011c0012	a0002c0003t0018 a0011c0012t0018 a0002c0003t0018 a0011c0012t0018	a0002c0003t0018g0138 a0002c0003t0018g0144 a0002c0003t0018g0145 others(1): Show a0002c0003t0018g0138 a0002c0003t0018g0144 a0002c0003t0018g0145 a0011c0012t0018g0143	4	300	0.0133	-22	c.94 others(31): Show c.947_*968delCACACACACACACACACACACT	EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	31/31	947		chr22	TogoVar
EPB41L1_chr20_36149740_36237799	36188623	CACACACA others(15): Show CACACACACACACACACACAGAG	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0019 a0001c0005t0019	a0001c0005t0019g0114 a0001c0005t0019g0114	1	236	0.0042	-22	c.102 others(39): Show c.1026+126_1026+147delCACACACACACACACACAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L1_chr20_36149740_36237799	36188625	CACACACA others(15): Show CACACACACACACACACAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19240.hp1 HG03516.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0005 a0001c0002t0007g0005	2	236	0.0085	-22	c.102 others(39): Show c.1026+128_1026+149delCACACACACACACACAGAGAGA	EPB41L1	ENSG00000088367.23	transcript	ENST00000338074.7	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr20	TogoVar
EPB41L2_chr6_130834347_131068245	130844371	CCATGTGG others(15): Show CCATGTGGCCAACATGGTGAAAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02970.hp2 HG03579.hp1 HG01891.hp2 HG02970.hp2 HG03579.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0010 a0001c0001 a0011c0010	a0001c0001t0004 a0011c0010t0004 a0001c0001t0004 a0011c0010t0004	a0001c0001t0004g0239 a0001c0001t0004g0240 a0011c0010t0004g0241 a0001c0001t0004g0239 a0001c0001t0004g0240 a0011c0010t0004g0241	3	356	0.0084	-22	c.6- others(37): Show c.6-3795_*6-3774delATTTCACCATGTTGGCCACATG	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	19/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	131023742	TATATCTA others(15): Show TATATCTATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0297 a0001c0001t0002g0297	1	356	0.0028	-22	c.-15 others(41): Show c.-15+39391_-15+39412delCTATATATCTATATATAGATAT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5389994	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG03453.hp2 others(1): Show HG02717.hp2 HG03098.hp1 HG03453.hp2 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0013 a0001c0005t0004g0054 a0001c0005t0004g0169 others(1): Show a0001c0005t0004g0013 a0001c0005t0004g0054 a0001c0005t0004g0169 a0001c0005t0004g0178	4	222	0.0180	-22	c.34 others(33): Show c.3469_*3490delTTTTTTTTTTTTTTTTTTTTTT	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding		2391		chr18	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01175.hp2 others(1): Show HG00741.hp2 HG01123.hp1 HG01175.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 others(1): Show a0001c0001t0007g0126 a0001c0001t0007g0141 a0001c0001t0007g0145 a0001c0002t0001g0162	4	228	0.0175	-22	c.100 others(39): Show c.100-7037_100-7016delTTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4A_chr5_112157619_112424277	112408697	AAAAAAAA others(15): Show AAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03041.hp2 NA18522.hp2 HG02630.hp2 HG03041.hp2 NA18522.hp2	a0002 a0007 a0002 a0007	a0002c0008 a0007c0013 a0002c0008 a0007c0013	a0002c0008t0001 a0007c0013t0007 a0002c0008t0001 a0007c0013t0007	a0002c0008t0001g0214 a0007c0013t0007g0106 a0007c0013t0007g0107 a0002c0008t0001g0214 a0007c0013t0007g0106 a0007c0013t0007g0107	3	228	0.0132	-22	c.99+ others(39): Show c.99+10222_99+10243delCTTTTTTTTTTTTTTTTTTTTT	EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22			chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109176040	TCACACAC others(15): Show TCACACACACGCACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0134 a0001c0002t0050g0134	1	318	0.0031	-22	c.263 others(39): Show c.2633+489_2633+510delTGTGTGTGTGTGCGTGTGTGTG	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	25/25			chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120069128	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA18942.hp2 HG01975.hp2 NA18942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0235 a0002c0002t0001g0251 a0002c0002t0001g0235 a0002c0002t0001g0251	2	278	0.0072	-22	c.286 others(39): Show c.286-4032_286-4011delAAAAAAAAAAAAAAAAAAAAAA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
EPB41L5_chr2_120008077_120184119	120183093	CTTCTCGG others(15): Show CTTCTCGGTCCCACCTGTTCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03540.hp1 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0133 a0001c0001t0008g0134 a0001c0001t0008g0133 a0001c0001t0008g0134	2	278	0.0072	-22	c.81 others(33): Show c.8187_*8208delTTCTCGGTCCCACCTGTTCTCA	EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding		3975		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365478	TTATATAT others(15): Show TTATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG03540.hp1 HG02132.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0352 a0002c0002t0001g0008 a0002c0002t0001g0352	2	450	0.0044	-22	c.-40 others(33): Show c.-4027_-4006delTATATATATATATATATATATA	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3832		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365514	ATATATAT others(15): Show ATATATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 NA18612.hp1 NA18966.hp2 others(6): Show HG00544.hp1 NA18612.hp1 NA18966.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA18998.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0058 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0196	9	450	0.0200	-22	c.-39 others(33): Show c.-3991_-3970delTATATATATATATATATATATT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3796		chr2	TogoVar
EPCAM_chr2_47364311_47392020	47365516	ATATATAT others(15): Show ATATATATATATATATATATTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG04204.hp1 NA18971.hp2 others(4): Show HG00621.hp1 HG04204.hp1 NA18971.hp2 NA19030.hp2 NA19054.hp2 NA19075.hp2 NA19078.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0004c0004t0009 a0001c0001t0001 a0004c0004t0009	a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0115 others(4): Show a0001c0001t0001g0059 a0001c0001t0001g0069 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0129 a0001c0001t0001g0131 a0004c0004t0009g0353	7	450	0.0156	-22	c.-39 others(33): Show c.-3989_-3968delTATATATATATATATATATTTT	EPCAM	ENSG00000119888.11	transcript	ENST00000263735.9	protein_coding		3794		chr2	TogoVar
EPG5_chr18_45842609_45972329	45937235	TACACACA others(15): Show TACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02723.hp2 HG02809.hp2 others(2): Show HG01891.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG03540.hp1	a0002 a0006 a0027 a0002 a0006 a0027	a0002c0002 a0006c0012 a0027c0041 a0002c0002 a0006c0012 a0027c0041	a0002c0002t0014 a0006c0012t0006 a0027c0041t0007 a0002c0002t0014 a0006c0012t0006 a0027c0041t0007	a0002c0002t0014g0220 a0006c0012t0006g0221 a0006c0012t0006g0222 others(2): Show a0002c0002t0014g0220 a0006c0012t0006g0221 a0006c0012t0006g0222 a0006c0012t0006g0272 a0027c0041t0007g0219	5	304	0.0165	-22	c.210 others(41): Show c.2100-2291_2100-2270delGTGTGTGTGTGTGTGTGTGTGT	EPG5	ENSG00000152223.16	transcript	ENST00000282041.11	protein_coding	10/43			chr18	TogoVar
EPHA10_chr1_37710976_37770120	37765670	TCACACAC others(15): Show TCACACACACACACACACACACA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	382	0.0026	-22	c.-62 others(31): Show c.-626_-605delTGTGTGTGTGTGTGTGTGTGTG	EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding		551		chr1	TogoVar

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