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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ELP4_chr11_31504767_31795324	31794420	CCACACAC others(17): Show CCACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG01168.hp1 HG01169.hp1 others(23): Show HG00639.hp2 HG01168.hp1 HG01169.hp1 HG01496.hp1 HG01981.hp1 HG01993.hp2 HG02027.hp1 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02273.hp1 HG02280.hp2 HG02818.hp1 HG03041.hp1 HG03540.hp2 NA18906.hp2 NA18954.hp1 NA18983.hp2 NA18989.hp1 NA19065.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0025 a0001c0001t0047 a0001c0001t0048 a0001c0001t0053 a0002c0003t0001 a0002c0003t0004	a0001c0001t0001g0002 a0001c0001t0003g0206 a0001c0001t0003g0210 others(23): Show a0001c0001t0001g0002 a0001c0001t0003g0206 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0004g0001 a0001c0001t0006g0163 a0001c0001t0006g0170 a0001c0001t0006g0227 a0001c0001t0006g0229 a0001c0001t0006g0230 a0001c0001t0006g0231 a0001c0001t0006g0234 a0001c0001t0009g0240 a0001c0001t0015g0119 a0001c0001t0015g0146 a0001c0001t0015g0162 a0001c0001t0016g0168 a0001c0001t0016g0236 a0001c0001t0020g0241 a0001c0001t0020g0242 a0001c0001t0025g0155 a0001c0001t0047g0176 a0001c0001t0048g0215 a0001c0001t0053g0049 a0002c0003t0001g0094 a0002c0003t0004g0022	26	270	0.0963	-24	c.10 others(37): Show c.10897_*10920delCACACACACACACACACACACACA		ELP4	ENSG00000109911.19	transcript	ENST00000640961.2	protein_coding					4097		chr11	TogoVar
ELSPBP1_chr19_47989632_48030154	48016456	TTTTCTTT others(17): Show TTTTCTTTCCTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01261.hp1 HG01981.hp2 others(23): Show HG00408.hp2 HG01261.hp1 HG01981.hp2 HG02056.hp2 HG02083.hp2 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02293.hp1 HG02572.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG04228.hp1 HG04228.hp2 NA18957.hp2 NA18964.hp1 NA19090.hp1 NA20300.hp2	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0010	a0001c0001 a0004c0004 a0005c0005 others(1): Show a0001c0001 a0004c0004 a0005c0005 a0010c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0004c0004t0001 a0005c0005t0004 a0010c0011t0001	a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0109 others(23): Show a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0279 a0001c0001t0001g0293 a0001c0001t0001g0308 a0001c0001t0001g0325 a0001c0001t0001g0332 a0001c0001t0001g0351 a0001c0001t0001g0363 a0001c0001t0001g0381 a0001c0001t0002g0131 a0001c0001t0002g0139 a0001c0001t0002g0161 a0001c0001t0002g0178 a0001c0001t0002g0199 a0001c0001t0002g0220 a0001c0001t0002g0246 a0001c0001t0005g0006 a0001c0001t0005g0067 a0001c0001t0006g0258 a0001c0001t0010g0245 a0004c0004t0001g0320 a0005c0005t0004g0122 a0010c0011t0001g0147	26	388	0.0670	-24	c.355 others(39): Show c.355+426_355+449delCTTCTTTCTTTCTTTCTTTCTTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016507	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01361.hp1 others(4): Show HG00140.hp1 HG00733.hp1 HG01361.hp1 HG02451.hp1 HG03834.hp2 HG03942.hp2 HG04204.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0009 a0001c0001 a0002c0002 a0008c0009	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0008c0009t0002	a0001c0001t0001g0119 a0001c0001t0001g0365 a0001c0001t0002g0257 others(4): Show a0001c0001t0001g0119 a0001c0001t0001g0365 a0001c0001t0002g0257 a0002c0002t0001g0043 a0002c0002t0002g0197 a0008c0009t0002g0164 a0008c0009t0002g0187	7	388	0.0180	-24	c.355 others(39): Show c.355+472_355+495delTCTTTCTTTCTTTCTTTCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016511	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTTCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp1 NA19043.hp2 others(1): Show HG01346.hp2 HG02717.hp1 NA19043.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0001g0358 a0001c0001t0002g0175 others(1): Show a0001c0001t0001g0014 a0001c0001t0001g0358 a0001c0001t0002g0175 a0001c0001t0002g0198	4	388	0.0103	-24	c.355 others(39): Show c.355+476_355+499delTCTTTCTTTCTTTCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016515	TCTTTCTT others(17): Show TCTTTCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0380 a0003c0007t0001g0380	1	388	0.0026	-24	c.355 others(39): Show c.355+480_355+503delTCTTTCTTTCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016519	TCTTTCTT others(17): Show TCTTTCTTTCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02647.hp2 HG03098.hp1 others(1): Show HG00733.hp2 HG02647.hp2 HG03098.hp1 HG03486.hp1	a0003 a0006 a0009 a0003 a0006 a0009	a0003c0007 a0006c0006 a0009c0012 a0003c0007 a0006c0006 a0009c0012	a0003c0007t0001 a0006c0006t0001 a0009c0012t0001 a0003c0007t0001 a0006c0006t0001 a0009c0012t0001	a0003c0007t0001g0013 a0006c0006t0001g0022 a0006c0006t0001g0324 others(1): Show a0003c0007t0001g0013 a0006c0006t0001g0022 a0006c0006t0001g0324 a0009c0012t0001g0318	4	388	0.0103	-24	c.355 others(39): Show c.355+484_355+507delTCTTTCTTCCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016523	TCTTTCTT others(17): Show TCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA19002.hp1 NA19010.hp2 others(1): Show NA18999.hp2 NA19002.hp1 NA19010.hp2 NA19090.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0002 a0003c0003t0001 a0003c0003t0002	a0003c0003t0001g0085 a0003c0003t0002g0173 a0003c0003t0002g0248 others(1): Show a0003c0003t0001g0085 a0003c0003t0002g0173 a0003c0003t0002g0248 a0003c0003t0002g0256	4	388	0.0103	-24	c.355 others(39): Show c.355+488_355+511delTCTTCCTTCCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016546	TCCTTCCT others(17): Show TCCTTCCTTCCTTCCTTCCTTCCTC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03209.hp2 HG03225.hp2 others(1): Show HG01099.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2	a0006 a0018 a0006 a0018	a0006c0006 a0006c0013 a0018c0020 a0006c0006 a0006c0013 a0018c0020	a0006c0006t0001 a0006c0006t0002 a0006c0013t0001 others(1): Show a0006c0006t0001 a0006c0006t0002 a0006c0013t0001 a0018c0020t0001	a0006c0006t0001g0341 a0006c0006t0002g0137 a0006c0013t0001g0382 others(1): Show a0006c0006t0001g0341 a0006c0006t0002g0137 a0006c0013t0001g0382 a0018c0020t0001g0005	4	388	0.0103	-24	c.355 others(39): Show c.355+513_355+536delCTTCCTTCCTTCCTTCCTCCCTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50471642	ATATACGC others(17): Show ATATACGCATACATGCACGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp1 others(125): Show HG00099.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp2 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18945.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp2 NA18959.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18982.hp2 NA18986.hp2 NA18989.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19066.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19085.hp2 NA19089.hp2 NA19240.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0003c0008 a0005c0004	a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 others(71): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0015 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0076 a0001c0001t0078 a0001c0001t0129 a0001c0001t0131 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0162 a0001c0001t0170 a0001c0002t0001 a0001c0002t0016 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0041 a0001c0002t0047 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0060 a0001c0002t0062 a0001c0002t0063 a0001c0002t0065 a0001c0002t0067 a0001c0002t0068 a0001c0002t0069 a0001c0002t0070 a0001c0002t0071 a0001c0002t0072 a0001c0002t0073 a0001c0002t0075 a0001c0002t0079 a0001c0002t0082 a0001c0002t0085 a0001c0002t0087 a0001c0002t0092 a0001c0002t0093 a0001c0002t0119 a0001c0002t0121 a0001c0002t0122 a0001c0002t0125 a0001c0002t0126 a0001c0002t0128 a0001c0002t0171 a0001c0003t0081 a0001c0003t0088 a0003c0008t0130 a0005c0004t0096	a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 others(82): Show a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0064 a0001c0001t0005g0002 a0001c0001t0005g0014 a0001c0001t0005g0024 a0001c0001t0005g0062 a0001c0001t0015g0002 a0001c0001t0028g0002 a0001c0001t0029g0002 a0001c0001t0030g0002 a0001c0001t0048g0002 a0001c0001t0048g0061 a0001c0001t0049g0002 a0001c0001t0050g0002 a0001c0001t0050g0063 a0001c0001t0051g0002 a0001c0001t0076g0002 a0001c0001t0078g0002 a0001c0001t0129g0002 a0001c0001t0131g0002 a0001c0001t0133g0002 a0001c0001t0134g0002 a0001c0001t0136g0002 a0001c0001t0137g0002 a0001c0001t0138g0002 a0001c0001t0139g0002 a0001c0001t0140g0002 a0001c0001t0141g0002 a0001c0001t0142g0002 a0001c0001t0143g0065 a0001c0001t0144g0002 a0001c0001t0145g0013 a0001c0001t0146g0024 a0001c0001t0147g0002 a0001c0001t0148g0013 a0001c0001t0149g0013 a0001c0001t0162g0002 a0001c0001t0170g0046 a0001c0002t0001g0002 a0001c0002t0016g0003 a0001c0002t0035g0004 a0001c0002t0036g0004 a0001c0002t0036g0034 a0001c0002t0037g0004 a0001c0002t0037g0047 a0001c0002t0038g0004 a0001c0002t0039g0023 a0001c0002t0040g0004 a0001c0002t0041g0004 a0001c0002t0041g0044 a0001c0002t0047g0007 a0001c0002t0057g0015 a0001c0002t0058g0015 a0001c0002t0059g0007 a0001c0002t0060g0015 a0001c0002t0062g0004 a0001c0002t0063g0004 a0001c0002t0065g0004 a0001c0002t0067g0004 a0001c0002t0068g0004 a0001c0002t0069g0004 a0001c0002t0070g0041 a0001c0002t0071g0004 a0001c0002t0072g0048 a0001c0002t0073g0004 a0001c0002t0075g0004 a0001c0002t0079g0016 a0001c0002t0082g0016 a0001c0002t0085g0045 a0001c0002t0087g0042 a0001c0002t0092g0053 a0001c0002t0093g0004 a0001c0002t0119g0054 a0001c0002t0121g0007 a0001c0002t0122g0007 a0001c0002t0125g0021 a0001c0002t0126g0021 a0001c0002t0128g0007 a0001c0002t0171g0051 a0001c0003t0081g0022 a0001c0003t0088g0022 a0003c0008t0130g0040 a0005c0004t0096g0007	128	352	0.3636	-24	c.-49 others(35): Show c.-4902_-4879delTATACGCATACATGCACGTGTGTG		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					4864		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	GGAGAGAG others(17): Show GGAGAGAGAGAGAGAGAGAGAGAGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG03041.hp1 HG02486.hp1 HG03041.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0081 a0001c0003t0088 a0001c0003t0081 a0001c0003t0088	a0001c0003t0081g0022 a0001c0003t0088g0022 a0001c0003t0081g0022 a0001c0003t0088g0022	2	352	0.0057	-24	c.97 others(35): Show c.9781_*9804delGAGAGAGAGAGAGAGAGAGAGAGA		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					1169		chr19	TogoVar
EMCN_chr4_100390341_100523022	100459168	GCTCTCTC others(17): Show GCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0248 a0001c0004t0004g0248	1	262	0.0038	-24	c.376 others(41): Show c.376+6231_376+6254delAGAGAGAGAGAGAGAGAGAGAGAG		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11						chr4	TogoVar
EMID1_chr22_29200896_29264597	29221066	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG01175.hp2 others(9): Show HG00280.hp2 HG00639.hp1 HG01175.hp2 HG02109.hp1 HG02132.hp2 HG02895.hp2 HG03540.hp2 NA18522.hp2 NA18959.hp2 NA18982.hp2 NA18985.hp2 NA18995.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0002c0001 a0003c0003 others(1): Show a0001c0002 a0002c0001 a0003c0003 a0004c0004	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(4): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0002c0001t0002 a0002c0001t0003 a0003c0003t0002 a0004c0004t0003	a0001c0002t0001g0234 a0001c0002t0002g0219 a0001c0002t0002g0332 others(9): Show a0001c0002t0001g0234 a0001c0002t0002g0219 a0001c0002t0002g0332 a0001c0002t0003g0218 a0001c0002t0003g0233 a0002c0001t0002g0220 a0002c0001t0003g0217 a0002c0001t0003g0241 a0003c0003t0002g0321 a0004c0004t0003g0215 a0004c0004t0003g0216 a0004c0004t0003g0221	12	348	0.0345	-24	c.320 others(41): Show c.320-4032_320-4009delGTGTGTGTGTGTGTGTGTGTGTGT		EMID1	ENSG00000186998.16	transcript	ENST00000334018.11	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr22	TogoVar
EMILIN2_chr18_2842006_2921003	2858522	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01943.hp1 HG02155.hp2 others(5): Show HG00438.hp1 HG01943.hp1 HG02155.hp2 HG02615.hp1 HG02809.hp1 HG03139.hp1 NA19083.hp1 NA19083.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0006c0026	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0003t0004 a0001c0016t0019 a0006c0026t0062	a0001c0001t0001g0159 a0001c0001t0006g0436 a0001c0001t0015g0033 others(5): Show a0001c0001t0001g0159 a0001c0001t0006g0436 a0001c0001t0015g0033 a0001c0002t0001g0090 a0001c0002t0002g0285 a0001c0003t0004g0375 a0001c0016t0019g0259 a0006c0026t0062g0032	8	452	0.0177	-24	c.257 others(43): Show c.257+10616_257+10639delATATATATATATATATATATATAT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EMILIN2_chr18_2842006_2921003	2869768	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTTTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(120): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00642.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01123.hp2 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02622.hp2 HG02735.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp2 NA18522.hp2 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18970.hp1 NA18977.hp1 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0014 a0018 a0021 a0022 a0023	a0001c0001 a0001c0002 a0001c0003 others(21): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0023 a0001c0042 a0002c0005 a0002c0007 a0002c0009 a0002c0020 a0002c0024 a0003c0010 a0003c0046 a0004c0011 a0006c0027 a0008c0019 a0009c0018 a0014c0029 a0018c0034 a0021c0051 a0022c0050 a0023c0052	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(59): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0019 a0001c0001t0033 a0001c0001t0035 a0001c0001t0037 a0001c0001t0041 a0001c0001t0065 a0001c0001t0077 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0006 a0001c0003t0013 a0001c0004t0001 a0001c0004t0003 a0001c0004t0011 a0001c0006t0002 a0001c0006t0003 a0001c0006t0036 a0001c0006t0038 a0001c0008t0003 a0001c0008t0043 a0001c0023t0001 a0001c0042t0001 a0002c0005t0004 a0002c0005t0030 a0002c0005t0031 a0002c0005t0032 a0002c0007t0004 a0002c0007t0009 a0002c0007t0049 a0002c0009t0004 a0002c0009t0009 a0002c0020t0004 a0002c0024t0004 a0002c0024t0009 a0003c0010t0010 a0003c0046t0002 a0004c0011t0002 a0004c0011t0003 a0006c0027t0002 a0008c0019t0002 a0009c0018t0002 a0009c0018t0007 a0014c0029t0006 a0018c0034t0001 a0021c0051t0026 a0022c0050t0007 a0023c0052t0002	a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0170 others(119): Show a0001c0001t0001g0081 a0001c0001t0001g0133 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0182 a0001c0001t0001g0217 a0001c0001t0001g0233 a0001c0001t0001g0294 a0001c0001t0001g0321 a0001c0001t0001g0368 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372 a0001c0001t0001g0421 a0001c0001t0001g0435 a0001c0001t0002g0181 a0001c0001t0002g0220 a0001c0001t0002g0415 a0001c0001t0002g0433 a0001c0001t0003g0001 a0001c0001t0003g0190 a0001c0001t0003g0200 a0001c0001t0003g0234 a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0003g0310 a0001c0001t0003g0314 a0001c0001t0005g0048 a0001c0001t0005g0241 a0001c0001t0005g0295 a0001c0001t0005g0350 a0001c0001t0005g0413 a0001c0001t0006g0219 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0013g0299 a0001c0001t0013g0315 a0001c0001t0019g0075 a0001c0001t0019g0228 a0001c0001t0033g0143 a0001c0001t0033g0144 a0001c0001t0035g0232 a0001c0001t0037g0426 a0001c0001t0041g0300 a0001c0001t0065g0419 a0001c0001t0077g0319 a0001c0002t0001g0082 a0001c0002t0001g0218 a0001c0002t0001g0304 a0001c0002t0001g0320 a0001c0002t0001g0337 a0001c0002t0001g0396 a0001c0002t0002g0352 a0001c0002t0003g0080 a0001c0002t0003g0130 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0178 a0001c0002t0003g0324 a0001c0002t0005g0351 a0001c0002t0006g0134 a0001c0002t0006g0286 a0001c0002t0008g0377 a0001c0002t0021g0327 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0338 a0001c0003t0001g0339 a0001c0003t0001g0431 a0001c0003t0002g0171 a0001c0003t0002g0224 a0001c0003t0002g0282 a0001c0003t0002g0283 a0001c0003t0003g0175 a0001c0003t0005g0381 a0001c0003t0006g0124 a0001c0003t0013g0311 a0001c0004t0001g0055 a0001c0004t0001g0264 a0001c0004t0003g0020 a0001c0004t0011g0054 a0001c0006t0002g0316 a0001c0006t0003g0230 a0001c0006t0036g0279 a0001c0006t0038g0174 a0001c0008t0003g0226 a0001c0008t0043g0176 a0001c0023t0001g0221 a0001c0042t0001g0149 a0002c0005t0004g0135 a0002c0005t0004g0430 a0002c0005t0030g0036 a0002c0005t0031g0317 a0002c0005t0031g0401 a0002c0005t0032g0231 a0002c0007t0004g0305 a0002c0007t0004g0312 a0002c0007t0004g0313 a0002c0007t0004g0345 a0002c0007t0009g0177 a0002c0007t0049g0373 a0002c0009t0004g0223 a0002c0009t0004g0318 a0002c0009t0009g0225 a0002c0020t0004g0131 a0002c0024t0004g0180 a0002c0024t0009g0179 a0003c0010t0010g0155 a0003c0046t0002g0028 a0004c0011t0002g0184 a0004c0011t0003g0287 a0006c0027t0002g0222 a0008c0019t0002g0034 a0008c0019t0002g0035 a0009c0018t0002g0012 a0009c0018t0007g0156 a0014c0029t0006g0136 a0018c0034t0001g0347 a0021c0051t0026g0076 a0022c0050t0007g0077 a0023c0052t0002g0242	123	452	0.2721	-24	c.258 others(43): Show c.258-15178_258-15155delTTGTGTGTGTGTGTGTGTGTGTGT		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99919401	CACACACA others(17): Show CACACACACATACGCATGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01433.hp1 others(5): Show HG00639.hp1 HG00642.hp1 HG01433.hp1 HG01515.hp1 HG04204.hp1 NA18960.hp2 NA19002.hp2 NA19063.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0001 a0003c0002 a0005c0009 a0002c0001 a0003c0002 a0005c0009	a0002c0001t0015 a0003c0002t0001 a0005c0009t0002 a0002c0001t0015 a0003c0002t0001 a0005c0009t0002	a0002c0001t0015g0109 a0003c0002t0001g0002 a0003c0002t0001g0107 others(4): Show a0002c0001t0015g0109 a0003c0002t0001g0002 a0003c0002t0001g0107 a0003c0002t0001g0171 a0003c0002t0001g0190 a0003c0002t0001g0217 a0005c0009t0002g0132	8	288	0.0278	-24	c.182 others(43): Show c.1821-1378_1821-1355delTACGCATGCACACAGACACACACA		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	16/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42325596	TTATATTT others(17): Show TTATATTTATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0013 a0002c0002t0008g0013	1	358	0.0028	-24	c.224 others(39): Show c.2242+48_2242+71delTTATATATATATATATATATATAT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88607591	CCCCATCT others(17): Show CCCCATCTCACCCTGTAACTACCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02559.hp2 HG02886.hp1 others(2): Show HG00642.hp2 HG02559.hp2 HG02886.hp1 NA18906.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0027 a0001c0001t0035 a0001c0001t0023 a0001c0001t0027 a0001c0001t0035	a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0027g0295 others(2): Show a0001c0001t0023g0195 a0001c0001t0023g0197 a0001c0001t0027g0295 a0001c0001t0027g0296 a0001c0001t0035g0196	5	332	0.0151	-24	c.82 others(35): Show c.8203_*8226delATGGTAGTTACAGGGTGAGATGGG		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					4839		chr14	TogoVar
EML6_chr2_54718662_54977025	54744905	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(15): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG01106.hp1 HG01261.hp1 HG02135.hp2 HG02258.hp2 HG02698.hp1 HG02738.hp2 HG03195.hp1 HG03471.hp1 HG03490.hp1 HG03492.hp2 HG04115.hp2 NA18950.hp2 NA18954.hp2 NA19056.hp2 NA20805.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0003c0013 a0010c0022	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0018 a0001c0001t0036 a0001c0002t0001 a0001c0002t0004 a0001c0002t0024 a0001c0003t0035 a0001c0006t0018 a0001c0006t0051 a0003c0013t0005 a0010c0022t0017	a0001c0001t0001g0034 a0001c0001t0004g0242 a0001c0001t0005g0033 others(15): Show a0001c0001t0001g0034 a0001c0001t0004g0242 a0001c0001t0005g0033 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0001t0005g0070 a0001c0001t0018g0037 a0001c0001t0036g0174 a0001c0002t0001g0041 a0001c0002t0004g0028 a0001c0002t0024g0073 a0001c0003t0035g0173 a0001c0006t0018g0039 a0001c0006t0018g0040 a0001c0006t0051g0038 a0003c0013t0005g0035 a0003c0013t0005g0036 a0010c0022t0017g0160	18	264	0.0682	-24	c.197 others(43): Show c.197+19682_197+19705delACACACACACACACACACACACAC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54907930	AGATAGAT others(17): Show AGATAGATAGATAGATAAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01167.hp1 HG01943.hp2 others(12): Show HG00735.hp1 HG01167.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02148.hp2 HG02683.hp1 HG03017.hp1 NA18950.hp1 NA18951.hp2 NA18971.hp1 NA18999.hp2 NA19054.hp1 NA19064.hp1 NA19087.hp2	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 others(4): Show a0001c0003t0002 a0001c0003t0004 a0001c0003t0009 a0001c0003t0011 a0001c0003t0027 a0001c0003t0054 a0001c0010t0050	a0001c0003t0002g0150 a0001c0003t0002g0156 a0001c0003t0002g0159 others(12): Show a0001c0003t0002g0150 a0001c0003t0002g0156 a0001c0003t0002g0159 a0001c0003t0002g0176 a0001c0003t0002g0192 a0001c0003t0002g0256 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0009g0122 a0001c0003t0009g0144 a0001c0003t0011g0115 a0001c0003t0027g0149 a0001c0003t0054g0166 a0001c0010t0050g0226	15	264	0.0568	-24	c.341 others(43): Show c.3410-3023_3410-3000delGATAGATAGATAGATAAGATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EML6_chr2_54718662_54977025	54907934	AGATAGAT others(17): Show AGATAGATAGATAAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01891.hp2 HG02630.hp1 others(2): Show HG01081.hp1 HG01891.hp2 HG02630.hp1 HG02976.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0002t0006 a0001c0002t0024 a0001c0001t0008 a0001c0002t0006 a0001c0002t0024	a0001c0001t0008g0123 a0001c0002t0006g0003 a0001c0002t0006g0161 others(2): Show a0001c0001t0008g0123 a0001c0002t0006g0003 a0001c0002t0006g0161 a0001c0002t0006g0263 a0001c0002t0024g0073	5	264	0.0189	-24	c.341 others(43): Show c.3410-3019_3410-2996delGATAGATAGATAAGATAGATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EML6_chr2_54718662_54977025	54907938	AGATAGAT others(17): Show AGATAGATAAGATAGATAGATAGAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG02965.hp1 HG03195.hp2 HG00140.hp2 HG02965.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0018 a0001c0029 a0001c0001 a0001c0018 a0001c0029	a0001c0001t0003 a0001c0018t0001 a0001c0029t0001 a0001c0001t0003 a0001c0018t0001 a0001c0029t0001	a0001c0001t0003g0138 a0001c0018t0001g0053 a0001c0029t0001g0057 a0001c0001t0003g0138 a0001c0018t0001g0053 a0001c0029t0001g0057	3	264	0.0114	-24	c.341 others(43): Show c.3410-3015_3410-2992delGATAGATAAGATAGATAGATAGAT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	24/41						chr2	TogoVar
EMP2_chr16_10523422_10585598	10581290	TACACACA others(17): Show TACACACACACACACACACACACAC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 NA18967.hp2 NA18973.hp1 HG00423.hp2 NA18967.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0096 a0001c0001t0001 a0001c0001t0096	a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0096g0029 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0096g0029	3	402	0.0075	-24	c.-82 others(33): Show c.-826_-803delGTGTGTGTGTGTGTGTGTGTGTGT		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding					693		chr16	TogoVar
EMP3_chr19_48320552_48335553	48334416	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02922.hp2 HG02293.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0055 a0001c0001t0001g0001 a0001c0001t0001g0055	2	376	0.0053	-24	c.39 others(35): Show c.3947_*3970delTCTTTCTTTCTTTCTTTCTTTCTT		EMP3	ENSG00000142227.11	transcript	ENST00000270221.11	protein_coding					3864		chr19	TogoVar
EMSY_chr11_76440018_76558031	76494649	CCCTTCCT others(17): Show CCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00408.hp2 others(26): Show HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00621.hp2 HG00733.hp2 HG01106.hp1 HG01256.hp2 HG01516.hp1 HG01978.hp2 HG01993.hp1 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02738.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG03239.hp1 HG03516.hp1 HG03688.hp1 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18939.hp2 NA18966.hp2 NA18983.hp1 NA18994.hp1 NA18999.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0015 a0002c0005t0003	a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0008 others(26): Show a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0002g0008 a0001c0001t0002g0093 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0177 a0001c0001t0002g0181 a0001c0001t0002g0242 a0001c0001t0002g0262 a0001c0001t0002g0266 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0319 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0004g0289 a0001c0001t0006g0009 a0001c0001t0011g0082 a0001c0001t0015g0246 a0002c0005t0003g0197 a0002c0005t0003g0198	29	360	0.0806	-24	c.115 others(43): Show c.1154-1501_1154-1478delCCTTCCTTCCTTCCTTCCTTCCTT		EMSY	ENSG00000158636.17	transcript	ENST00000695367.1	protein_coding	9/21					INFO_REALIGN_3_PRIME	chr11	TogoVar
EMX2_chr10_117537746_117554546	117549880	ACATTGAG others(17): Show ACATTGAGGACTACTCTCCCAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	402	0.0025	-24	c.16 others(35): Show c.1649_*1672delCATTGAGGACTACTCTCCCAAAAT		EMX2	ENSG00000170370.12	transcript	ENST00000553456.5	protein_coding					335		chr10	TogoVar
EN1_chr2_118837171_118852648	118846529	CGCCGCCG others(17): Show CGCCGCCGCCGCCACTGCCGCCGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG01891.hp1 HG02572.hp1 HG02809.hp1 HG01891.hp1 HG02572.hp1 HG02809.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0025 a0002c0004t0002g0025	3	442	0.0068	-24	c.615 others(31): Show c.615_638delCGCGGCGGCAGTGGCGGCGGCGGC	p.Ala others(13): Show p.Ala206_Ala213del	EN1	ENSG00000163064.7	transcript	ENST00000295206.7	protein_coding	1/2	1119/2427	615/1179	205/392			chr2	TogoVar
EN2_chr7_155453129_155469831	155464343	GCCCAGGG others(17): Show GCCCAGGGGGTGTGCCCACGGCTGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0052 a0002c0001t0052	a0002c0001t0052g0038 a0002c0001t0052g0038	1	432	0.0023	-24	c.16 others(35): Show c.1665_*1688delGTGTGCCCACGGCTGACCCAGGGG		EN2	ENSG00000164778.4	transcript	ENST00000297375.4	protein_coding	2/2				1665	INFO_REALIGN_3_PRIME	chr7	TogoVar
ENAH_chr1_225481829_225658123	225520922	AAGGGAGG others(17): Show AAGGGAGGGAGGGAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp1 NA18962.hp1 others(2): Show HG02486.hp2 HG02622.hp1 NA18962.hp1 NA18977.hp1 NA19082.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0011 a0003c0004 a0001c0001 a0001c0011 a0003c0004	a0001c0001t0021 a0001c0011t0105 a0003c0004t0062 a0001c0001t0021 a0001c0011t0105 a0003c0004t0062	a0001c0001t0021g0064 a0001c0001t0021g0126 a0001c0001t0021g0171 others(2): Show a0001c0001t0021g0064 a0001c0001t0021g0126 a0001c0001t0021g0171 a0001c0011t0105g0195 a0003c0004t0062g0016	5	308	0.0162	-24	c.435 others(41): Show c.435-1381_435-1358delCCCTCCCTCCCTCCCTCCCTCCCT		ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	4/13						chr1	TogoVar
ENKUR_chr10_24976985_25021158	24988242	ATATATAT others(17): Show ATATATATATGTGTATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03130.hp1 HG03130.hp2 others(1): Show HG01884.hp1 HG03130.hp1 HG03130.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 others(1): Show a0001c0001t0007g0128 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0131	4	384	0.0104	-24	c.594 others(41): Show c.594+2197_594+2220delAATATATATATACACATATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG03225.hp2 NA18971.hp2 NA19055.hp2 others(2): Show HG03225.hp2 NA18971.hp2 NA19055.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0157 others(2): Show a0001c0001t0001g0133 a0001c0001t0001g0150 a0001c0001t0001g0157 a0001c0001t0001g0178 a0001c0001t0001g0189	5	384	0.0130	-24	c.594 others(41): Show c.594+1775_594+1798delTATATATATATATATATATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENOSF1_chr18_665318_717630	666933	TGATGGAG others(17): Show TGATGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03654.hp1 NA18985.hp2 HG00738.hp2 HG03654.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0220 a0001c0003t0001g0340 a0001c0003t0001g0341 a0001c0001t0001g0220 a0001c0003t0001g0340 a0001c0003t0001g0341	3	418	0.0072	-24	c.73 others(35): Show c.7348_*7371delTCCATCACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3384		chr18	TogoVar
ENOSF1_chr18_665318_717630	667023	AGATGGTG others(17): Show AGATGGTGATGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 NA18965.hp2 HG00738.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0220 a0001c0001t0016g0265 a0001c0001t0001g0220 a0001c0001t0016g0265	2	418	0.0048	-24	c.72 others(35): Show c.7258_*7281delACCATCACCATCTCCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3294		chr18	TogoVar
ENOSF1_chr18_665318_717630	667071	TGATGGAG others(17): Show TGATGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0319 a0002c0002t0002g0319	1	418	0.0024	-24	c.72 others(35): Show c.7210_*7233delTCCATCACCATCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3246		chr18	TogoVar
ENOSF1_chr18_665318_717630	667316	AGATGGTG others(17): Show AGATGGTGATGGTGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG03831.hp1 HG02602.hp2 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0097 a0002c0002t0005g0135 a0002c0002t0005g0097 a0002c0002t0005g0135	2	418	0.0048	-24	c.69 others(35): Show c.6965_*6988delACCATCTCCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3001		chr18	TogoVar
ENOSF1_chr18_665318_717630	667505	TGATGGTG others(17): Show TGATGGTGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0176 a0002c0005t0001g0176	1	418	0.0024	-24	c.67 others(35): Show c.6776_*6799delTCCATCACCATCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2812		chr18	TogoVar
ENOX1_chr13_43208130_43791972	43247828	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0153 a0001c0002t0006g0153	1	188	0.0053	-24	c.161 others(45): Show c.1612-11114_1612-11091delATATATATATATATATATATATAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43349866	TATCCCTG others(17): Show TATCCCTGTCCCCACGACCAATTAA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp2 HG00738.hp2 others(33): Show HG00544.hp2 HG00621.hp2 HG00738.hp2 HG01074.hp1 HG01243.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG02004.hp2 HG02080.hp1 HG02155.hp1 HG02273.hp1 HG02523.hp2 HG02602.hp2 HG02886.hp1 HG03209.hp2 HG03831.hp1 HG03831.hp2 HG04204.hp1 NA18522.hp2 NA18944.hp1 NA18944.hp2 NA18960.hp2 NA18962.hp2 NA18973.hp2 NA18984.hp1 NA18985.hp1 NA19043.hp1 NA19063.hp1 NA19079.hp2 NA19085.hp1 NA19088.hp1 NA19091.hp2 NA20300.hp1 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0021 a0001c0001t0031 a0001c0002t0001 a0001c0002t0006 a0001c0002t0027 a0001c0002t0029	a0001c0001t0001g0080 a0001c0001t0002g0036 a0001c0001t0002g0050 others(33): Show a0001c0001t0001g0080 a0001c0001t0002g0036 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0064 a0001c0001t0002g0076 a0001c0001t0002g0082 a0001c0001t0003g0065 a0001c0001t0003g0097 a0001c0001t0004g0003 a0001c0001t0004g0088 a0001c0001t0004g0122 a0001c0001t0005g0152 a0001c0001t0007g0142 a0001c0001t0007g0146 a0001c0001t0007g0157 a0001c0001t0007g0162 a0001c0001t0007g0180 a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0008g0001 a0001c0001t0008g0047 a0001c0001t0008g0105 a0001c0001t0008g0107 a0001c0001t0010g0129 a0001c0001t0011g0165 a0001c0001t0021g0106 a0001c0001t0031g0159 a0001c0002t0001g0016 a0001c0002t0001g0038 a0001c0002t0001g0081 a0001c0002t0001g0090 a0001c0002t0001g0108 a0001c0002t0006g0174 a0001c0002t0027g0121 a0001c0002t0029g0002	36	188	0.1915	-24	c.824 others(41): Show c.824-5140_824-5117delTTAATTGGTCGTGGGGACAGGGAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	8/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43460807	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0175 a0001c0002t0006g0175	1	188	0.0053	-24	c.-75 others(43): Show c.-75+23178_-75+23201delATTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43790608	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAAAAAAAAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0140 a0001c0001t0005g0140	1	188	0.0053	-24	c.-42 others(35): Show c.-4265_-4242delCTTTTTTTTTTTTTTTTTTTTTTT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding					3637		chr13	TogoVar
ENOX2_chrX_130617325_130908209	130617502	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 NA19088.hp1 HG00609.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0104 a0001c0001t0001g0046 a0001c0001t0001g0104	2	154	0.0130	-24	c.77 others(35): Show c.7788_*7811delGAAAGAAAGAAAGAAAGAAAGAAA		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding					4822		chrX	TogoVar
ENOX2_chrX_130617325_130908209	130653454	GTCCCCTA others(17): Show GTCCCCTATATACATCATGCTTATT	G G	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19082.hp1 NA19068.hp1 NA19082.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0099 a0003c0003t0001g0101 a0003c0003t0001g0099 a0003c0003t0001g0101	2	154	0.0130	-24	c.112 others(43): Show c.1129+3103_1129+3126delAATAAGCATGATGTATATAGGGGA		ENOX2	ENSG00000165675.19	transcript	ENST00000394363.6	protein_coding	10/14						chrX	TogoVar
ENPP3_chr6_131632302_131752410	131678907	CTCTTTCT others(17): Show CTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0002 a0009c0018t0002	a0009c0018t0002g0025 a0009c0018t0002g0025	1	278	0.0036	-24	c.101 others(42): Show c.1011+998_1011+1021delTTTCTTTCTTTCTTTCTTTCTTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678938	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp1 HG02280.hp2 HG03130.hp1	a0001 a0006 a0001 a0006	a0001c0002 a0006c0009 a0001c0002 a0006c0009	a0001c0002t0002 a0006c0009t0001 a0001c0002t0002 a0006c0009t0001	a0001c0002t0002g0008 a0006c0009t0001g0066 a0001c0002t0002g0008 a0006c0009t0001g0066	2	278	0.0072	-24	c.101 others(43): Show c.1011+1002_1011+1025delTTTCTTTCTTTCTTTCTTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP3_chr6_131632302_131752410	131678942	TTTCTTTC others(17): Show TTTCTTTCTTTCTTTCTTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA20300.hp1 HG02055.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0156 a0001c0001t0001g0157	2	278	0.0072	-24	c.101 others(43): Show c.1011+1006_1011+1029delTTTCTTTCTTTCTTTCCTTCCTTC		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	11/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184119312	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00597.hp1 HG00609.hp2 others(97): Show HG00408.hp2 HG00597.hp1 HG00609.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01515.hp2 HG01884.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02148.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02615.hp2 HG02683.hp2 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG06807.hp1 NA18612.hp2 NA18946.hp2 NA18949.hp1 NA18949.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA19002.hp1 NA19003.hp1 NA19004.hp1 NA19006.hp2 NA19010.hp1 NA19043.hp1 NA19060.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20300.hp2 NA20805.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0001c0005 others(3): Show a0001c0002 a0001c0003 a0001c0005 a0002c0001 a0002c0009 a0003c0014	a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 others(16): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0008 a0001c0002t0012 a0001c0002t0015 a0001c0002t0023 a0001c0003t0003 a0001c0003t0004 a0001c0003t0016 a0001c0003t0018 a0001c0005t0002 a0002c0001t0001 a0002c0001t0002 a0002c0001t0011 a0002c0001t0020 a0002c0001t0026 a0002c0009t0003 a0003c0014t0002	a0001c0002t0001g0040 a0001c0002t0001g0075 a0001c0002t0002g0004 others(96): Show a0001c0002t0001g0040 a0001c0002t0001g0075 a0001c0002t0002g0004 a0001c0002t0002g0029 a0001c0002t0002g0035 a0001c0002t0002g0038 a0001c0002t0002g0047 a0001c0002t0002g0060 a0001c0002t0002g0067 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0002t0002g0090 a0001c0002t0002g0092 a0001c0002t0002g0093 a0001c0002t0002g0101 a0001c0002t0002g0105 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0123 a0001c0002t0002g0124 a0001c0002t0002g0125 a0001c0002t0002g0144 a0001c0002t0002g0145 a0001c0002t0002g0155 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0172 a0001c0002t0002g0180 a0001c0002t0002g0183 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0002g0195 a0001c0002t0002g0196 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0200 a0001c0002t0002g0204 a0001c0002t0002g0205 a0001c0002t0002g0206 a0001c0002t0002g0209 a0001c0002t0002g0213 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0221 a0001c0002t0002g0225 a0001c0002t0002g0226 a0001c0002t0002g0227 a0001c0002t0002g0232 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0249 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0252 a0001c0002t0002g0253 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0284 a0001c0002t0002g0287 a0001c0002t0002g0301 a0001c0002t0005g0288 a0001c0002t0008g0027 a0001c0002t0012g0182 a0001c0002t0015g0190 a0001c0002t0023g0147 a0001c0003t0003g0071 a0001c0003t0003g0108 a0001c0003t0003g0127 a0001c0003t0004g0079 a0001c0003t0016g0278 a0001c0003t0018g0254 a0001c0005t0002g0005 a0002c0001t0001g0011 a0002c0001t0001g0020 a0002c0001t0001g0068 a0002c0001t0001g0069 a0002c0001t0001g0098 a0002c0001t0001g0099 a0002c0001t0001g0102 a0002c0001t0001g0111 a0002c0001t0001g0236 a0002c0001t0001g0239 a0002c0001t0001g0258 a0002c0001t0001g0280 a0002c0001t0001g0290 a0002c0001t0001g0291 a0002c0001t0001g0293 a0002c0001t0001g0302 a0002c0001t0001g0303 a0002c0001t0002g0141 a0002c0001t0011g0176 a0002c0001t0020g0308 a0002c0001t0026g0033 a0002c0009t0003g0110 a0003c0014t0002g0306	100	320	0.3125	-24	c.534 others(41): Show c.534-1436_534-1413delACACACACACACACACACACACAC		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	3/7						chr4	TogoVar
ENPP7_chr17_79725943_79747219	79736536	CGTGTGTG others(17): Show CGTGTGTGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01109.hp1 HG01433.hp2 others(4): Show HG00280.hp2 HG01109.hp1 HG01433.hp2 HG01952.hp2 HG01993.hp2 HG02273.hp1 NA18949.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0030 a0002c0001t0001g0057 a0002c0001t0001g0165 others(1): Show a0002c0001t0001g0030 a0002c0001t0001g0057 a0002c0001t0001g0165 a0002c0001t0001g0179	7	430	0.0163	-24	c.102 others(41): Show c.1027-489_1027-466delTGTGTGTGTGTGTGTGTGTGTGTG		ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	3/5					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTREP1_chr9_69320215_69397456	69340625	ATGTGTGT others(17): Show ATGTGTGTGTGCGTGCATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02965.hp1 NA20129.hp1 HG02809.hp2 HG02965.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0053 a0001c0001t0001g0005 a0001c0001t0001g0053	3	342	0.0088	-24	c.471 others(41): Show c.471+4359_471+4382delTGTGTGTGCGTGCATGTGTGTGTG		ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29306664	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02145.hp1 HG02257.hp1 others(3): Show HG01169.hp2 HG02145.hp1 HG02257.hp1 HG02818.hp1 HG02886.hp1 HG03130.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0010 a0002c0005 a0002c0009 others(2): Show a0001c0010 a0002c0005 a0002c0009 a0002c0021 a0003c0006	a0001c0010t0001 a0002c0005t0003 a0002c0009t0015 others(3): Show a0001c0010t0001 a0002c0005t0003 a0002c0009t0015 a0002c0021t0003 a0003c0006t0001 a0003c0006t0039	a0001c0010t0001g0088 a0002c0005t0003g0076 a0002c0009t0015g0029 others(3): Show a0001c0010t0001g0088 a0002c0005t0003g0076 a0002c0009t0015g0029 a0002c0021t0003g0086 a0003c0006t0001g0108 a0003c0006t0039g0105	6	125	0.0480	-24	c.277 others(43): Show c.277-54210_277-54187delAAAAAAAAAAAAAAAAAAAAAAAA		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	2/10						chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29444170	CAAAGAAA others(17): Show CAAAGAAAGAAAGAAAGAAAGAAAG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02895.hp2 HG03139.hp2 others(2): Show HG01109.hp1 HG02895.hp2 HG03139.hp2 HG03834.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0015	a0001c0001t0001 a0002c0003t0021 a0002c0003t0032 others(2): Show a0001c0001t0001 a0002c0003t0021 a0002c0003t0032 a0002c0004t0003 a0002c0015t0012	a0001c0001t0001g0042 a0002c0003t0021g0016 a0002c0003t0032g0109 others(2): Show a0001c0001t0001g0042 a0002c0003t0021g0016 a0002c0003t0032g0109 a0002c0004t0003g0101 a0002c0015t0012g0008	5	125	0.0400	-24	c.220 others(43): Show c.220-62363_220-62340delCTTTCTTTCTTTCTTTCTTTCTTT		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10						chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155258318	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0010 a0002c0003t0001g0010	1	395	0.0025	-24	c.-34 others(35): Show c.-3465_-3442delAAAAAAAAAAAAAAAAAAAAAAAA		ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding					2836		chr1	TogoVar

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