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
DDX51_chr12_132131594_132149319	132149121	TGCCGCCG others(40): Show TGCCGCCGCCTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0018 a0004c0012t0013g0018	1	334	0.0030	-47	c.-48 others(58): Show c.-4872_-4826delGGCACTCACCGAGGGGATTAGGGGTGTGGTAGGA GTGAGGCGGCGGC		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					4803		chr12	TogoVar
DEFB124_chr20_31460471_31480127	31471317	CCCCCCCA others(40): Show CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02451.hp1 HG02630.hp2 others(7): Show HG02145.hp2 HG02451.hp1 HG02630.hp2 HG02896.hp2 HG03486.hp1 HG03579.hp2 HG06807.hp1 NA19043.hp2 NA19240.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0133 a0001c0001t0002g0134 others(6): Show a0001c0001t0002g0036 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0148	10	362	0.0276	-47	c.58+ others(62): Show c.58+1592_58+1638delTCAGCCCCCGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGG		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DEFB124_chr20_31460471_31480127	31471356	GGGGGCTG others(40): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	362	0.0028	-47	c.58+ others(62): Show c.58+1553_58+1599delGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGGTCAGCCCC		DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2						chr20	TogoVar
DGCR2_chr22_19031286_19127412	19084668	TGGGGGTC others(40): Show TGGGGGTCAGCCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTG	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp2 HG00558.hp2 others(51): Show HG00323.hp2 HG00408.hp2 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG01069.hp1 HG01071.hp1 HG01169.hp1 HG01261.hp2 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG02074.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02486.hp1 HG02735.hp2 HG02809.hp2 HG02896.hp2 HG03130.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18950.hp1 NA18957.hp1 NA18964.hp1 NA18965.hp1 NA18982.hp1 NA18985.hp2 NA18995.hp1 NA19060.hp2 NA19080.hp1 NA19086.hp2 NA19088.hp2 NA19089.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 others(3): Show a0002c0002t0002 a0002c0002t0006 a0002c0002t0018 a0002c0002t0025 a0002c0002t0041 a0002c0002t0042	a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 others(48): Show a0002c0002t0002g0006 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0149 a0002c0002t0002g0151 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0159 a0002c0002t0002g0161 a0002c0002t0002g0162 a0002c0002t0002g0163 a0002c0002t0002g0164 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0169 a0002c0002t0002g0170 a0002c0002t0002g0172 a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 a0002c0002t0002g0176 a0002c0002t0002g0177 a0002c0002t0002g0183 a0002c0002t0002g0190 a0002c0002t0006g0001 a0002c0002t0006g0179 a0002c0002t0006g0181 a0002c0002t0006g0184 a0002c0002t0006g0185 a0002c0002t0006g0186 a0002c0002t0006g0187 a0002c0002t0006g0188 a0002c0002t0006g0189 a0002c0002t0018g0140 a0002c0002t0018g0150 a0002c0002t0018g0158 a0002c0002t0018g0182 a0002c0002t0025g0145 a0002c0002t0025g0171 a0002c0002t0041g0166 a0002c0002t0042g0152	54	344	0.1570	-47	c.202 others(64): Show c.202+4653_202+4699delCACCTCCCTCCCGGACGGGGCAGCTGGC CGGGCGGGGGCTGACCCCC		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9						chr22	TogoVar
DGCR2_chr22_19031286_19127412	19084694	TGCCCCGT others(40): Show TGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCGCCCGGCCAGCC	T T	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	344	0.0029	-47	c.202 others(64): Show c.202+4627_202+4673delGGCTGGCCGGGCGGGGGCTGACCCCCCA CCTCCCTCCCGGACGGGGC		DGCR2	ENSG00000070413.21	transcript	ENST00000263196.12	protein_coding	2/9						chr22	TogoVar
DGKB_chr7_14140049_14907751	14688830	ATTATCCT others(40): Show ATTATCCTAGTGATTCTAAAGTTTTAGTTTTTCCATAAATAAAAATCT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00558.hp1 HG00558.hp2 others(108): Show HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00741.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01255.hp2 HG01515.hp1 HG01515.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA19002.hp1 NA19002.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19057.hp1 NA19057.hp2 NA19062.hp2 NA19081.hp1 NA19081.hp2 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0012 a0001c0013 a0001c0014 a0001c0015 a0001c0016 a0002c0005 a0002c0007 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(54): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0025 a0001c0001t0028 a0001c0001t0039 a0001c0001t0041 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0009 a0001c0002t0012 a0001c0002t0013 a0001c0002t0022 a0001c0002t0029 a0001c0002t0031 a0001c0002t0034 a0001c0002t0038 a0001c0002t0040 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0008 a0001c0003t0013 a0001c0003t0014 a0001c0003t0015 a0001c0003t0018 a0001c0003t0036 a0001c0003t0037 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0010 a0001c0004t0026 a0001c0004t0027 a0001c0006t0008 a0001c0006t0019 a0001c0008t0003 a0001c0012t0003 a0001c0013t0017 a0001c0014t0001 a0001c0015t0032 a0001c0016t0001 a0002c0005t0011 a0002c0007t0006 a0004c0011t0002	a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(108): Show a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0091 a0001c0001t0001g0098 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0002g0025 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0048 a0001c0001t0002g0099 a0001c0001t0002g0106 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0117 a0001c0001t0002g0119 a0001c0001t0002g0143 a0001c0001t0003g0051 a0001c0001t0004g0142 a0001c0001t0007g0037 a0001c0001t0007g0121 a0001c0001t0007g0132 a0001c0001t0008g0123 a0001c0001t0016g0042 a0001c0001t0020g0097 a0001c0001t0021g0029 a0001c0001t0023g0122 a0001c0001t0025g0021 a0001c0001t0028g0095 a0001c0001t0039g0022 a0001c0001t0041g0147 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0002g0074 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0055 a0001c0002t0003g0058 a0001c0002t0003g0069 a0001c0002t0003g0072 a0001c0002t0003g0081 a0001c0002t0009g0064 a0001c0002t0012g0046 a0001c0002t0013g0104 a0001c0002t0022g0013 a0001c0002t0029g0002 a0001c0002t0031g0008 a0001c0002t0034g0014 a0001c0002t0038g0093 a0001c0002t0040g0068 a0001c0003t0001g0006 a0001c0003t0001g0054 a0001c0003t0001g0136 a0001c0003t0002g0063 a0001c0003t0003g0056 a0001c0003t0004g0012 a0001c0003t0005g0016 a0001c0003t0005g0057 a0001c0003t0008g0011 a0001c0003t0013g0066 a0001c0003t0014g0075 a0001c0003t0014g0076 a0001c0003t0015g0086 a0001c0003t0018g0061 a0001c0003t0036g0050 a0001c0003t0037g0005 a0001c0004t0001g0026 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0071 a0001c0004t0001g0085 a0001c0004t0001g0103 a0001c0004t0001g0108 a0001c0004t0001g0114 a0001c0004t0001g0127 a0001c0004t0002g0112 a0001c0004t0002g0115 a0001c0004t0002g0131 a0001c0004t0002g0133 a0001c0004t0003g0049 a0001c0004t0003g0067 a0001c0004t0004g0113 a0001c0004t0004g0118 a0001c0004t0005g0023 a0001c0004t0010g0100 a0001c0004t0026g0138 a0001c0004t0027g0059 a0001c0006t0008g0080 a0001c0006t0019g0144 a0001c0008t0003g0077 a0001c0008t0003g0078 a0001c0012t0003g0015 a0001c0013t0017g0084 a0001c0014t0001g0018 a0001c0015t0032g0019 a0001c0016t0001g0039 a0002c0005t0011g0062 a0002c0005t0011g0079 a0002c0007t0006g0030 a0002c0007t0006g0041 a0004c0011t0002g0110	111	148	0.7500	-47	c.712 others(64): Show c.712-3515_712-3469delAGATTTTTATTTATGGAAAAACTAAAAC TTTAGAATCACTAGGATAA		DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	9/25						chr7	TogoVar
DHRS12_chr13_51762993_51809163	51774912	AGTATTCT others(40): Show AGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0259 a0001c0001t0003g0259	1	420	0.0024	-47	c.364 others(62): Show c.364-925_364-879delGTAGAATACATGTAGGAGAATACTGTAGAA TACATGTAGGAGAATAC		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRS9_chr2_169064563_169101167	169079971	GAGAGAGA others(40): Show GAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0028 a0001c0002t0002g0028	1	398	0.0025	-47	c.-59 others(64): Show c.-59-1550_-59-1504delGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAA		DHRS9	ENSG00000073737.17	transcript	ENST00000674881.1	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX34_chr19_47344315_47387704	47381316	GGCCCCCA others(40): Show GGCCCCCAGGTAAGCACAGGACTGTGGGGACCCGGCCACCTCTGCCCA	G G	frameshift_variant others(3): Show frameshift_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA19082.hp1 NA19082.hp1	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0004 a0016c0023t0004	a0016c0023t0004g0238 a0016c0023t0004g0238	1	382	0.0026	-47	c.329 others(59): Show c.3294_3298+42delCCCAGGTAAGCACAGGACTGTGGGGACCCGGCC ACCTCTGCCCAGCC	p.Pro others(6): Show p.Pro1099fs	DHX34	ENSG00000134815.19	transcript	ENST00000328771.9	protein_coding	16/17	3609/4338	3294/3432	1098/1143		INFO_REALIGN_3_PRIME	chr19	TogoVar
DIP2B_chr12_50499985_50753657	50579645	ATATATAT others(40): Show ATATATATATATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18612.hp2 NA18747.hp1 NA18998.hp1 others(2): Show NA18612.hp2 NA18747.hp1 NA18998.hp1 NA19057.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0034 a0001c0003t0002g0015 a0001c0003t0002g0026 others(2): Show a0001c0001t0001g0034 a0001c0003t0002g0015 a0001c0003t0002g0026 a0001c0003t0002g0029 a0001c0003t0002g0057	5	284	0.0176	-47	c.101 others(66): Show c.101-46330_101-46284delTATATATATATATATATATATATATA TATATATATATATATATATAT		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37						chr12	TogoVar
DIP2B_chr12_50499985_50753657	50752381	TGAGGAAG others(40): Show TGAGGAAGCTGGAGCGGACGGACTCCAGTGAGCAGGTGGAAGGATTGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0232 a0001c0002t0003g0232	1	284	0.0035	-47	c.75 others(58): Show c.7543_*7589delGAGGAAGCTGGAGCGGACGGACTCCAGTGAGCAG GTGGAAGGATTGG		DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding					3725		chr12	TogoVar
DIP2C_chr10_269201_694668	584620	GACCTGAC others(40): Show GACCTGACCCCCACTCACGCGCATCACCTCTCAATCTCGGGGCCCGCA	G G	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0001 a0001c0010t0002g0001	1	88	0.0114	-47	c.86- others(64): Show c.86-98137_86-98091delTGCGGGCCCCGAGATTGAGAGGTGATGC GCGTGAGTGGGGGTCAGGT		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DIP2C_chr10_269201_694668	584905	AGGGCCCG others(40): Show AGGGCCCGCGACCTGACCCCCACTCACGCGCATCACCTCTCAATCTCG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02071.hp1 NA19066.hp1 HG00621.hp1 HG02071.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0003g0085 a0001c0001t0001g0028 a0001c0001t0001g0072 a0001c0001t0003g0085	3	88	0.0341	-47	c.86- others(64): Show c.86-98422_86-98376delCGAGATTGAGAGGTGATGCGCGTGAGTG GGGGTCAGGTCGCGGGCCC		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLG2_chr11_83450173_85632344	84502202	CCTTCCTT others(40): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0014 a0001c0001t0010g0014	1	14	0.0714	-47	c.519 others(66): Show c.519+32321_519+32367delAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAG		DLG2	ENSG00000150672.19	transcript	ENST00000376104.7	protein_coding	7/27						chr11	TogoVar
DLGAP2_chr8_732628_1713476	1188933	TCCAGGCC others(40): Show TCCAGGCCGGTTCCGCGGTTGGGGTTGACCGTACACAGGGTTCGGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0033 a0001c0003t0006g0033	1	40	0.0250	-47	c.74- others(64): Show c.74-69888_74-69842delGTACACAGGGTTCGGGCCCCAGGCCGGT TCCGCGGTTGGGGTTGACC		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1188963	GTACACAG others(40): Show GTACACAGGGTTCGGGCCCCAGGCCGGTTCCGCGGTTGGGGTTGACCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02922.hp2 HG03486.hp1 HG02818.hp2 HG02922.hp2 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0005 a0002c0001t0019 a0002c0006t0021 a0002c0001t0005 a0002c0001t0019 a0002c0006t0021	a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0006t0021g0014 a0002c0001t0005g0035 a0002c0001t0019g0030 a0002c0006t0021g0014	3	40	0.0750	-47	c.74- others(64): Show c.74-69867_74-69821delGGCCGGTTCCGCGGTTGGGGTTGACCTT ACACAGGGTTCGGGCCCCA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1247517	TAATGGCC others(40): Show TAATGGCCCATGTTGGTGGCCGGCAAGACCTTTGAGATCAGTGTGGGA	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	40	0.0250	-47	c.74- others(64): Show c.74-11333_74-11287delAATGGCCCATGTTGGTGGCCGGCAAGAC CTTTGAGATCAGTGTGGGA		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14						chr8	TogoVar
DLK2_chr6_43445352_43460548	43449682	TCCTTTAT others(40): Show TCCTTTATAGCACTGCCTAGGGCCCTTTATAGCACATTATCTGAGGGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG01891.hp2 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	2	370	0.0054	-47	c.81 others(56): Show c.810_*856delGCCCTCAGATAATGTGCTATAAAGGGCCCTAGGCAG TGCTATAAAGG		DLK2	ENSG00000171462.15	transcript	ENST00000372488.8	protein_coding					669		chr6	TogoVar
DMD_chrX_31114222_33216549	32452287	GGAAAGGA others(40): Show GGAAAGGAAAAGGAAAGGGAAAGTGAAAGTGAAAGTGAAAGTGAAAGT	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01952.hp1 HG02451.hp2 others(4): Show HG01192.hp1 HG01952.hp1 HG02451.hp2 HG02895.hp1 HG03486.hp2 NA18960.hp1 NA19070.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0007 a0016 a0028	a0001c0001 a0002c0024 a0002c0059 others(4): Show a0001c0001 a0002c0024 a0002c0059 a0004c0055 a0007c0018 a0016c0028 a0028c0046	a0001c0001t0001 a0002c0024t0011 a0002c0059t0012 others(4): Show a0001c0001t0001 a0002c0024t0011 a0002c0059t0012 a0004c0055t0001 a0007c0018t0001 a0016c0028t0005 a0028c0046t0029	a0001c0001t0001g0018 a0002c0024t0011g0016 a0002c0059t0012g0055 others(4): Show a0001c0001t0001g0018 a0002c0024t0011g0016 a0002c0059t0012g0055 a0004c0055t0001g0007 a0007c0018t0001g0099 a0016c0028t0005g0028 a0028c0046t0029g0126	7	126	0.0556	-47	c.360 others(66): Show c.3603+2328_3603+2374delACTTTCACTTTCACTTTCACTTTCAC TTTCCCTTTCCTTTTCCTTTC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DMD_chrX_31114222_33216549	32452374	AGGGAAAG others(40): Show AGGGAAAGGGAAAGGGAAAGGGAAGGGAAAGGAAAGGGAAAGGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0011 a0011	a0011c0060 a0011c0060	a0011c0060t0003 a0011c0060t0003	a0011c0060t0003g0072 a0011c0060t0003g0072	1	126	0.0079	-47	c.360 others(66): Show c.3603+2241_3603+2287delCTTTCCCTTTCCCTTTCCTTTCCCTT CCCTTTCCCTTTCCCTTTCCC		DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	26/78						chrX	TogoVar
DNAAF5_chr7_721699_791475	782399	CGTGGCCG others(40): Show CGTGGCCGCCTCCCCTCACGCGGCGTCAGAAACTCGCATCTTCCTGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03490.hp1 others(1): Show HG02258.hp2 HG02818.hp2 HG03490.hp1 HG03831.hp1	a0002 a0003 a0013 a0002 a0003 a0013	a0002c0002 a0003c0003 a0013c0020 a0002c0002 a0003c0003 a0013c0020	a0002c0002t0001 a0003c0003t0003 a0013c0020t0001 a0002c0002t0001 a0003c0003t0003 a0013c0020t0001	a0002c0002t0001g0011 a0003c0003t0003g0018 a0013c0020t0001g0011 a0002c0002t0001g0011 a0003c0003t0003g0018 a0013c0020t0001g0011	4	378	0.0106	-47	c.243 others(66): Show c.2431+2269_2431+2315delCTCACGCGGCGTCAGAAACTCGCATC TTCCTGGTGTGGCCGCCTCCC		DNAAF5	ENSG00000164818.16	transcript	ENST00000297440.11	protein_coding	12/12					INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH17_chr17_78418697_78582396	78541193	GGGGGGGT others(40): Show GGGGGGGTGAGCGGATGGGTGGGTGGGGGGGTGAGCGGATGGGTGGGT	G G	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02083.hp2 HG02040.hp2 HG02083.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0209 a0006c0010t0001g0220 a0006c0010t0001g0209 a0006c0010t0001g0220	2	252	0.0079	-47	c.253 others(66): Show c.2533-1360_2533-1314delACCCACCCATCCGCTCACCCCCCCAC CCACCCATCCGCTCACCCCCC		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	17/80						chr17	TogoVar
DNAH17_chr17_78418697_78582396	78577856	GTAGAGCT others(40): Show GTAGAGCTAATAGAGGAATTCAGCAAGTTTGCAGTATACAAGATATTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0044 a0044	a0044c0037 a0044c0037	a0044c0037t0002 a0044c0037t0002	a0044c0037t0002g0101 a0044c0037t0002g0101	1	252	0.0040	-47	c.-63 others(56): Show c.-634_-588delAAATATCTTGTATACTGCAAACTTGCTGAATTCCTC TATTAGCTCTA		DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding					461		chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694829	TTTCTTTC others(40): Show TTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0050 a0050	a0050c0116 a0050c0116	a0050c0116t0001 a0050c0116t0001	a0050c0116t0001g0147 a0050c0116t0001g0147	1	178	0.0056	-47	c.487 others(64): Show c.4872+385_4872+431delCTTTCTTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCTTTCTT		DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68					INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74319313	GTAGCCAT others(40): Show GTAGCCATGCCCAGAACACAAGGAGGTGGGACTTTGCCCAGGTTGCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	398	0.0025	-47	c.47 others(58): Show c.4781_*4827delTAGCCATGCCCAGAACACAAGGAGGTGGGACTTT GCCCAGGTTGCCC		DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding					4430		chr17	TogoVar
DOCK2_chr5_169632275_170088382	169972542	CAGATAGA others(40): Show CAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATAGATGAT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01358.hp1 HG02257.hp1 others(1): Show HG00280.hp2 HG01358.hp1 HG02257.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0064 a0001c0001 a0001c0005 a0002c0064	a0001c0001t0002 a0001c0005t0001 a0002c0064t0001 a0001c0001t0002 a0001c0005t0001 a0002c0064t0001	a0001c0001t0002g0035 a0001c0001t0002g0102 a0001c0005t0001g0175 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0102 a0001c0005t0001g0175 a0002c0064t0001g0139	4	184	0.0217	-47	c.280 others(68): Show c.2800-10485_2800-10439delAGATGATAGATAGATAGATAGATA GATAGATAGATAGATAGATAGAT		DOCK2	ENSG00000134516.20	transcript	ENST00000520908.7	protein_coding	27/51					INFO_REALIGN_3_PRIME	chr5	TogoVar
DPH7_chr9_137549444_137583925	137551686	CCCGCGAG others(40): Show CCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCGAGCCCCGCCCCGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	340	0.0029	-47	c.35 others(58): Show c.3506_*3552delCGCGGGGCGGGGCTCGCGGGGCGGGGCTCGCGGG GCGGGGCTCGCGG		DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding					2757		chr9	TogoVar
DTX1_chr12_113051730_113103025	113101656	GCTCCAGG others(40): Show GCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCTGCATAAGGGACCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG03209.hp1 HG04184.hp1 HG01358.hp1 HG03209.hp1 HG04184.hp1	a0001 a0001	a0001c0006 a0001c0008 a0001c0006 a0001c0008	a0001c0006t0025 a0001c0008t0009 a0001c0006t0025 a0001c0008t0009	a0001c0006t0025g0079 a0001c0008t0009g0179 a0001c0008t0009g0306 a0001c0006t0025g0079 a0001c0008t0009g0179 a0001c0008t0009g0306	3	338	0.0089	-47	c.47 others(58): Show c.4718_*4764delCTCCAGGTATTAAAAGATCCCAAGACCCAGTTCT GCATAAGGGACCC		DTX1	ENSG00000135144.8	transcript	ENST00000548759.2	protein_coding					3632		chr12	TogoVar
DYM_chr18_49031387_49465645	49252245	ACTGCCTG others(40): Show ACTGCCTGAGACTGGGTAATTTATAAAGTTAAGAGGTTTCATTGACTC	A A	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	290	0.0035	-47	c.146 others(66): Show c.1460+4718_1460+4764delGAGTCAATGAAACCTCTTAACTTTAT AAATTACCCAGTCTCAGGCAG		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	13/17						chr18	TogoVar
DYNC1H1_chr14_101959573_102061443	101998240	TACAAACG others(40): Show TACAAACGCCTGGACCCCTCTCCCCTCTATAAACGCTGATCCGATAAC	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02273.hp2 HG03688.hp2 others(9): Show HG00423.hp1 HG02273.hp2 HG03688.hp2 NA18947.hp1 NA18951.hp1 NA18967.hp2 NA18973.hp2 NA18990.hp2 NA19054.hp2 NA19067.hp1 NA19074.hp2 NA19080.hp1	a0001 a0007 a0001 a0007	a0001c0006 a0007c0019 a0001c0006 a0007c0019	a0001c0006t0006 a0007c0019t0025 a0001c0006t0006 a0007c0019t0025	a0001c0006t0006g0257 a0001c0006t0006g0258 a0001c0006t0006g0259 others(9): Show a0001c0006t0006g0257 a0001c0006t0006g0258 a0001c0006t0006g0259 a0001c0006t0006g0260 a0001c0006t0006g0261 a0001c0006t0006g0262 a0001c0006t0006g0263 a0001c0006t0006g0265 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0007c0019t0025g0264	12	280	0.0429	-47	c.380 others(65): Show c.3804+998_3804+1044delACGCTGATCCGATAACACAAACGCCTG GACCCCTCTCCCCTCTATAA		DYNC1H1	ENSG00000197102.14	transcript	ENST00000360184.10	protein_coding	16/77					INFO_REALIGN_3_PRIME	chr14	TogoVar
DYRK1A_chr21_37361773_37531358	37448696	TTGTTTGT others(40): Show TTGTTTGTTTTTGAGGCAGAGTCTTACTCTGTTGCCAGGCTGTCAGGC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03471.hp1 HG03453.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0301 a0001c0001t0003g0303 a0001c0001t0003g0301 a0001c0001t0003g0303	2	350	0.0057	-47	c.11- others(64): Show c.11-23985_11-23939delTTTGTTTTTGAGGCAGAGTCTTACTCTG TTGCCAGGCTGTCAGGCTG		DYRK1A	ENSG00000157540.22	transcript	ENST00000647188.2	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr21	TogoVar
EBF2_chr8_25836725_26050413	26002889	GGCAGGCA others(40): Show GGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	220	0.0046	-47	c.551 others(66): Show c.551+30149_551+30195delTGCCTGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCCTGC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EDNRB_chr13_77890487_77923831	77904609	ATATATAT others(40): Show ATATATATATAGTGTGTATATATGTACACGTATATATTTCTCTTTATC	A A	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA18967.hp2 NA18968.hp1 others(9): Show NA18953.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18979.hp1 NA18980.hp2 NA18995.hp2 NA18997.hp1 NA19006.hp2 NA19077.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0097 others(3): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0007g0026 a0001c0001t0007g0027	12	406	0.0296	-47	c.484 others(64): Show c.484-1049_484-1003delGATAAAGAGAAATATATACGTGTACATA TATACACACTATATATATA		EDNRB	ENSG00000136160.17	transcript	ENST00000646607.2	protein_coding	1/6						chr13	TogoVar
EGFR_chr7_55014017_55216628	55166647	GTGGTGTT others(40): Show GTGGTGTTGATGGTGGTGAGGAGGTGGGAGTCACAATGGTGGTGGTGA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01109.hp1 HG01515.hp2 others(2): Show HG00741.hp1 HG01109.hp1 HG01515.hp2 NA18954.hp1 NA18954.hp2	a0001 a0002 a0001 a0002	a0001c0024 a0002c0002 a0002c0009 a0001c0024 a0002c0002 a0002c0009	a0001c0024t0001 a0002c0002t0001 a0002c0002t0059 others(1): Show a0001c0024t0001 a0002c0002t0001 a0002c0002t0059 a0002c0009t0002	a0001c0024t0001g0083 a0002c0002t0001g0033 a0002c0002t0059g0072 others(2): Show a0001c0024t0001g0083 a0002c0002t0001g0033 a0002c0002t0059g0072 a0002c0009t0002g0062 a0002c0009t0002g0127	5	250	0.0200	-47	c.188 others(66): Show c.1880+1253_1880+1299delGGTGATGGTGTTGATGGTGGTGAGGA GGTGGGAGTCACAATGGTGGT		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	15/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137809893	CGGTTCCG others(40): Show CGGTTCCGATGCCGCCCTGTGTGGACCGTCGGTGATGGGTCCGGAGGT	C C	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02965.hp1 HG02809.hp1 HG02965.hp1	a0001 a0001	a0001c0004 a0001c0005 a0001c0004 a0001c0005	a0001c0004t0001 a0001c0005t0001 a0001c0004t0001 a0001c0005t0001	a0001c0004t0001g0139 a0001c0005t0001g0063 a0001c0004t0001g0139 a0001c0005t0001g0063	2	170	0.0118	-47	c.271 others(66): Show c.2713-1521_2713-1475delTGGTTCCGATGCCGCCCTGTGTGGAC CGTCGGTGATGGGTCCGGAGG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF2B3_chr1_44845522_44991595	44869509	ATTTAGTA others(40): Show ATTTAGTACTCCCAATAAACCTACAAGGTAGTTCAGTTTTACCCCCAT	A A	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02615.hp2 HG02630.hp2 others(4): Show HG01943.hp1 HG02615.hp2 HG02630.hp2 HG03041.hp1 HG03225.hp2 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 others(4): Show a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0280	7	322	0.0217	-47	c.120 others(66): Show c.1202+5122_1202+5168delATGGGGGTAAAACTGAACTACCTTGT AGGTTTATTGGGAGTACTAAA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	10/11						chr1	TogoVar
EIF3H_chr8_116637130_116760823	116679122	GGGTCAGC others(40): Show GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02145.hp2 HG02258.hp2 others(3): Show HG01099.hp1 HG02145.hp2 HG02258.hp2 HG02698.hp1 HG03017.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0081 a0001c0001t0001g0231 a0001c0001t0001g0245 others(3): Show a0001c0001t0001g0081 a0001c0001t0001g0231 a0001c0001t0001g0245 a0001c0001t0005g0213 a0001c0001t0005g0217 a0001c0001t0005g0234	6	336	0.0179	-47	c.290 others(66): Show c.290-20189_290-20143delACCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACC		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
ELF2_chr4_139052265_139182218	139169075	AGGCAGAT others(40): Show AGGCAGATCACGCTTGTAATCCCAGCACTTTGGGAGGCCAGGGCAGGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	342	0.0029	-47	c.-25 others(66): Show c.-252+7845_-252+7891delGCCTGCCCTGGCCTCCCAAAGTGCTG GGATTACAAGCGTGATCTGCC		ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9						chr4	TogoVar
ELOVL7_chr5_60746791_60849269	60819085	GGAGGGGA others(40): Show GGAGGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	258	0.0039	-47	c.-85 others(66): Show c.-85-19902_-85-19856delTCCTCTCCTCTCCTCTCCTCTCCTCT CCTCTCCCCTCCCCTCCCCTC		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
EMILIN2_chr18_2842006_2921003	2905140	TAGAATGG others(40): Show TAGAATGGAATTAGCTCTGTATCATCCTCAGGGAAAACTGAGAGAGTA	T T	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0017 a0017	a0017c0040 a0017c0040	a0017c0040t0002 a0017c0040t0002	a0017c0040t0002g0163 a0017c0040t0002g0163	1	452	0.0022	-47	c.236 others(66): Show c.2360-1641_2360-1595delGAATGGAATTAGCTCTGTATCATCCT CAGGGAAAACTGAGAGAGTAA		EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
ENOSF1_chr18_665318_717630	667233	AGATGGAG others(40): Show AGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0295 a0001c0003t0001g0295	1	418	0.0024	-47	c.70 others(58): Show c.7025_*7071delCCATCACCATCACCATCTCCATCACCATCACCAT CACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3084		chr18	TogoVar
ENOSF1_chr18_665318_717630	667245	TGATGGTG others(40): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0266 a0001c0003t0001g0266	1	418	0.0024	-47	c.70 others(58): Show c.7013_*7059delTCCATCACCATCCCATCACCATCACCATCTCCAT CACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3072		chr18	TogoVar
ENTHD1_chr22_39738044_39898760	39764524	TATGTAAG others(40): Show TATGTAAGAACCAATAAAACTACTACTTAGTCTTTGAAAAATTCATAA	T T	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	218	0.0046	-47	c.121 others(64): Show c.1219+652_1219+698delTTATGAATTTTTCAAAGACTAAGTAGTA GTTTTATTGGTTCTTACAT		ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	6/6						chr22	TogoVar
ENTR1_chr9_136396922_136415614	136403393	AGGGAGCA others(40): Show AGGGAGCAAGGGGTGGGGTTTGCCGGGGAAGAAAGGGACAGGGTTCCT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01109.hp1 HG02280.hp1 others(7): Show HG01074.hp1 HG01109.hp1 HG02280.hp1 HG02615.hp2 HG02809.hp1 HG02896.hp2 HG02976.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0014 a0001c0001 a0001c0006 a0001c0014	a0001c0001t0001 a0001c0006t0002 a0001c0014t0002 a0001c0001t0001 a0001c0006t0002 a0001c0014t0002	a0001c0001t0001g0039 a0001c0001t0001g0150 a0001c0006t0002g0016 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0150 a0001c0006t0002g0016 a0001c0006t0002g0095 a0001c0006t0002g0100 a0001c0014t0002g0031	10	412	0.0243	-47	c.120 others(64): Show c.1209-553_1209-507delAGGAACCCTGTCCCTTTCTTCCCCGGCA AACCCCACCCCTTGCTCCC		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
ERBIN_chr5_65921575_66087546	66018452	TATTATAT others(40): Show TATTATATTATATAATATATATTATATATTATATATTATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0016 a0005c0006t0016	a0005c0006t0016g0299 a0005c0006t0016g0299	1	306	0.0033	-47	c.534 others(64): Show c.534-2869_534-2823delATTATATTATATAATATATATTATATAT TATATATTATATTATATAA		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25						chr5	TogoVar
ERC1_chr12_986223_1500931	1078865	CAAAAGTC others(40): Show CAAAAGTCGATATACAAAGATACAGATAGAAATGATTTGTAATATGAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp2 HG00639.hp1 others(25): Show HG00140.hp2 HG00323.hp2 HG00639.hp1 HG00741.hp1 HG01109.hp2 HG01175.hp2 HG01257.hp1 HG01346.hp1 HG01361.hp2 HG01515.hp2 HG01884.hp2 HG01993.hp2 HG02129.hp1 HG02155.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02735.hp1 HG03669.hp1 NA18966.hp2 NA18982.hp2 NA19090.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0006c0009	a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 others(24): Show a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0023 a0001c0001t0024 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0001t0043 a0001c0001t0049 a0001c0001t0056 a0001c0001t0058 a0001c0001t0068 a0001c0003t0022 a0002c0002t0001 a0002c0002t0005 a0002c0002t0017 a0002c0002t0018 a0002c0002t0026 a0002c0002t0039 a0002c0002t0070 a0006c0009t0025	a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 others(25): Show a0001c0001t0019g0120 a0001c0001t0020g0113 a0001c0001t0021g0116 a0001c0001t0023g0162 a0001c0001t0024g0112 a0001c0001t0028g0129 a0001c0001t0029g0160 a0001c0001t0030g0109 a0001c0001t0031g0118 a0001c0001t0032g0159 a0001c0001t0033g0111 a0001c0001t0034g0161 a0001c0001t0040g0150 a0001c0001t0043g0084 a0001c0001t0049g0157 a0001c0001t0056g0085 a0001c0001t0058g0141 a0001c0001t0068g0083 a0001c0003t0022g0114 a0002c0002t0001g0149 a0002c0002t0001g0152 a0002c0002t0005g0133 a0002c0002t0017g0097 a0002c0002t0018g0117 a0002c0002t0026g0115 a0002c0002t0039g0151 a0002c0002t0070g0138 a0006c0009t0025g0110	28	162	0.1728	-47	c.670 others(64): Show c.670-4252_670-4206delTAAAAGTCGATATACAAAGATACAGATA GAAATGATTTGTAATATGA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1079284	CAAGTCGA others(40): Show CAAGTCGATATACAGAGATACAGATAGAAATGATTTGTAATATGACAA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18612.hp2 HG00738.hp1 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0003 a0001c0001t0011	a0001c0001t0003g0029 a0001c0001t0011g0034 a0001c0001t0003g0029 a0001c0001t0011g0034	2	162	0.0124	-47	c.670 others(64): Show c.670-3484_670-3438delCAGATAGAAATGATTTGTAATATGACAA AAGTCGATATACAGAGATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1079684	TAGAAATG others(40): Show TAGAAATGATTTGTAATATGACAAAAGTCGATATACAGAGATATAGAC	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01891.hp1 HG02109.hp2 others(12): Show HG01346.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0005 a0001c0001t0061 a0001c0001t0067 others(12): Show a0001c0001t0005 a0001c0001t0061 a0001c0001t0067 a0001c0001t0074 a0002c0002t0035 a0002c0002t0037 a0002c0002t0052 a0002c0002t0053 a0002c0002t0054 a0002c0002t0055 a0002c0002t0060 a0002c0002t0066 a0002c0002t0072 a0002c0002t0076 a0009c0008t0041	a0001c0001t0005g0041 a0001c0001t0061g0153 a0001c0001t0067g0121 others(12): Show a0001c0001t0005g0041 a0001c0001t0061g0153 a0001c0001t0067g0121 a0001c0001t0074g0039 a0002c0002t0035g0143 a0002c0002t0037g0042 a0002c0002t0052g0154 a0002c0002t0053g0136 a0002c0002t0054g0135 a0002c0002t0055g0137 a0002c0002t0060g0040 a0002c0002t0066g0139 a0002c0002t0072g0145 a0002c0002t0076g0146 a0009c0008t0041g0140	15	162	0.0926	-47	c.670 others(64): Show c.670-3437_670-3391delTAGACAGAAATGATTTGTAATATGACAA AAGTCGATATACAGAGATA		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERC1_chr12_986223_1500931	1090887	ATTATTAT others(40): Show ATTATTATTATTATTATTATTATTATCATTTGTGACAGAGCTTTGCTC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03195.hp1 HG03225.hp2 HG02717.hp1 HG03195.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0001t0004 a0001c0013t0063 a0001c0001t0001 a0001c0001t0004 a0001c0013t0063	a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0013t0063g0077 a0001c0001t0001g0076 a0001c0001t0004g0078 a0001c0013t0063g0077	3	162	0.0185	-47	c.108 others(66): Show c.1086+7309_1086+7355delTATTATTATTATTATTATTATTATCA TTTGTGACAGAGCTTTGCTCT		ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr12	TogoVar
ERICH1_chr8_659200_736224	675475	GGCGGCCC others(40): Show GGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA20129.hp2 HG02572.hp2 NA20129.hp2	a0001 a0009 a0001 a0009	a0001c0009 a0009c0012 a0001c0009 a0009c0012	a0001c0009t0001 a0009c0012t0001 a0001c0009t0001 a0009c0012t0001	a0001c0009t0001g0120 a0009c0012t0001g0119 a0001c0009t0001g0120 a0009c0012t0001g0119	2	378	0.0053	-47	c.305 others(64): Show c.305-1475_305-1429delTGTCCTCACGAGGGGCCGCCGCGTCTCT GTCCTCGCCGAGGGGCCGC		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5						chr8	TogoVar

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