Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	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
DRD4_chr11_632269_645706	640065	TCCCTGCG others(41): Show TCCCTGCGGCCCCGACTGTGCGCCCGCCGCGCCCAGCCTCCCCCAGGAC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01346.hp1 NA19087.hp1 NA19091.hp1 HG01346.hp1 NA19087.hp1 NA19091.hp1	a0014 a0038 a0014 a0038	a0014c0018 a0038c0024 a0014c0018 a0038c0024	a0014c0018t0001 a0038c0024t0001 a0014c0018t0001 a0038c0024t0001	a0014c0018t0001g0001 a0038c0024t0001g0001 a0014c0018t0001g0001 a0038c0024t0001g0001	3	421	0.0071	-48	c.841 others(55): Show c.841_888delGCCGCGCCCAGCCTCCCCCAGGACCCCTGCGGCCCCGA CTGTGCGCCC	p.Ala others(13): Show p.Ala281_Pro296del	DRD4	ENSG00000069696.7	transcript	ENST00000176183.6	protein_coding	3/4	877/1399	841/1260	281/419		INFO_REALIGN_3_PRIME	chr11	TogoVar
DTD1_chr20_18583054_18771644	18708206	TTTTATAT others(41): Show TTTTATATATATAATATATATATATTTTATATATATATAATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00741.hp1 HG01257.hp1 others(4): Show HG00280.hp2 HG00741.hp1 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 others(4): Show a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0021 a0001c0001t0005g0022 a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0035	7	398	0.0176	-48	c.478 others(67): Show c.478-35892_478-35845delTTATATATATAATATATATATATTTT ATATATATATAATATATATTAT		DTD1	ENSG00000125821.13	transcript	ENST00000377452.4	protein_coding	4/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
DTNB_chr2_25372243_25678577	25634236	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	168	0.0060	-48	c.148 others(65): Show c.148+4730_148+4777delACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCC		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20						chr2	TogoVar
DTNB_chr2_25372243_25678577	25634345	CCCCCCGC others(41): Show CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAG	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	168	0.0060	-48	c.148 others(65): Show c.148+4621_148+4668delCTGACCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGG		DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	3/20						chr2	TogoVar
DTX2_chr7_76456709_76510991	76491896	AACTCCTG others(41): Show AACTCCTGGCCTCAAGTGATCCTCCCACCTCATCCTCCCAAAGTGCTGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0124 a0004c0006t0001g0124	1	280	0.0036	-48	c.909 others(63): Show c.909-256_909-209delACTCCTGGCCTCAAGTGATCCTCCCACCTC ATCCTCCCAAAGTGCTGG		DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10						chr7	TogoVar
DUS2_chr16_68018284_68084320	68020799	ACATATAT others(41): Show ACATATATATATATACGTATATATATGTATGTGTATATATATATATACG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03225.hp2 NA19240.hp2 HG03041.hp2 HG03225.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013	3	234	0.0128	-48	c.-26 others(59): Show c.-2650_-2603delCATATATATATATACGTATATATATGTATGTGTA TATATATATATACG		DUS2	ENSG00000167264.18	transcript	ENST00000565263.6	protein_coding					2484		chr16	TogoVar
DVL1_chr1_1330278_1354418	1350875	CTGGACGG others(41): Show CTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0048	1	344	0.0029	-48	c.-18 others(59): Show c.-1858_-1811delCCCGTCCAGGCCCCCTCCTCACTCCCCCCGTCGC TCCTGCCCCGTCCA		DVL1	ENSG00000107404.21	transcript	ENST00000378888.10	protein_coding					1458		chr1	TogoVar
DYM_chr18_49031387_49465645	49080105	CGGGGGGC others(41): Show CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp2 HG01071.hp2 others(10): Show HG00099.hp2 HG00741.hp2 HG01071.hp2 HG01168.hp2 HG01243.hp1 HG01255.hp1 HG01261.hp2 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01975.hp2 HG03579.hp1 NA18991.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0010 a0005c0006 a0001c0001 a0002c0010 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013 a0002c0010t0023 a0005c0006t0006	a0001c0001t0002g0213 a0001c0001t0004g0138 a0001c0001t0004g0191 others(10): Show a0001c0001t0002g0213 a0001c0001t0004g0138 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0006g0158 a0001c0001t0006g0178 a0001c0001t0006g0180 a0001c0001t0006g0183 a0001c0001t0013g0070 a0001c0001t0013g0086 a0001c0001t0013g0087 a0002c0010t0023g0009 a0005c0006t0006g0157	13	290	0.0448	-48	c.202 others(69): Show c.2025+17249_2025+17296delCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17						chr18	TogoVar
DYM_chr18_49031387_49465645	49080563	CGGACGGG others(41): Show CGGACGGGGCGGCTGGCCGGGCGGGGGCTGACCCCCCCACCTCCCTCCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03041.hp1 HG02970.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0030 a0001c0001t0004 a0001c0001t0030	a0001c0001t0004g0126 a0001c0001t0030g0127 a0001c0001t0004g0126 a0001c0001t0030g0127	2	290	0.0069	-48	c.202 others(69): Show c.2025+16791_2025+16838delAGGAGGGAGGTGGGGGGGTCAGCC CCCGCCCGGCCAGCCGCCCCGTCC		DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	17/17						chr18	TogoVar
EBF2_chr8_25836725_26050413	26002872	GGGCAGGC others(41): Show GGGCAGGCGGGCAGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG04115.hp1 HG01255.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0117 a0001c0001t0002g0118	2	220	0.0091	-48	c.551 others(67): Show c.551+30165_551+30212delTGCCCGCCTGCCCGCCTGCCCGCCTG CCTGCCCGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	26002880	GGGCAGGC others(41): Show GGGCAGGCGGGCAGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01081.hp1 HG01109.hp2 others(8): Show HG00323.hp1 HG01081.hp1 HG01109.hp2 HG01255.hp2 HG01261.hp1 HG01346.hp1 HG01884.hp1 HG02970.hp2 NA19003.hp1 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0031 a0001c0001t0042 a0001c0002t0001	a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0003g0180 others(8): Show a0001c0001t0002g0111 a0001c0001t0002g0120 a0001c0001t0003g0180 a0001c0001t0006g0196 a0001c0001t0031g0150 a0001c0001t0042g0220 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0001g0108 a0001c0002t0001g0127 a0001c0002t0001g0149	11	220	0.0500	-48	c.551 others(67): Show c.551+30157_551+30204delTGCCCGCCTGCCCGCCTGCCCGCCTG CCCGCCTGCCTGCCCGCCTGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBF2_chr8_25836725_26050413	26002896	AGGCGGGC others(41): Show AGGCGGGCAGGCGGGCAGGCGGGCAGGCGGGCAGGCAGGCAGGCAGGCG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02055.hp1 HG02622.hp2 HG01081.hp2 HG02055.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0001c0001t0021 a0002c0003t0005 a0001c0001t0003 a0001c0001t0021 a0002c0003t0005	a0001c0001t0003g0207 a0001c0001t0021g0020 a0002c0003t0005g0102 a0001c0001t0003g0207 a0001c0001t0021g0020 a0002c0003t0005g0102	3	220	0.0136	-48	c.551 others(67): Show c.551+30141_551+30188delCGCCTGCCTGCCTGCCTGCCCGCCTG CCCGCCTGCCCGCCTGCCCGCC		EBF2	ENSG00000221818.9	transcript	ENST00000520164.6	protein_coding	6/15						chr8	TogoVar
EBI3_chr19_4224523_4242528	4232728	GAATGAAT others(41): Show GAATGAATGAATGAAGGGATGAATTAATGAATGAATGAAGGAATGAATT	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp2 HG00544.hp2 others(52): Show HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG01099.hp1 HG01358.hp1 HG01496.hp2 HG01952.hp1 HG02027.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02683.hp1 HG02738.hp2 HG02886.hp1 HG02976.hp2 HG03139.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18950.hp1 NA18957.hp2 NA18959.hp1 NA18967.hp1 NA18979.hp2 NA18981.hp2 NA18991.hp2 NA18997.hp2 NA18998.hp1 NA19001.hp1 NA19010.hp2 NA19012.hp1 NA19060.hp2 NA19067.hp2 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005	a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0014 others(27): Show a0002c0002t0002g0003 a0002c0002t0002g0007 a0002c0002t0002g0014 a0002c0002t0002g0019 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0063 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0105 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0145 a0002c0002t0002g0214 a0002c0002t0002g0216 a0002c0002t0002g0217 a0002c0002t0004g0003 a0002c0002t0005g0215	55	438	0.1256	-48	c.201 others(63): Show c.201-384_201-337delGATGAATTAATGAATGAATGAAGGAATGAA TTAATGAATGAATGAAGG		EBI3	ENSG00000105246.6	transcript	ENST00000221847.6	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
ECSCR_chr5_139443560_139467743	139446465	TTTTCTTT others(41): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG03579.hp2 NA20129.hp1 HG00741.hp2 HG03579.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0037 a0001c0001t0001g0038	3	369	0.0081	-48	c.23 others(59): Show c.2387_*2434delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAA		ECSCR	ENSG00000249751.4	transcript	ENST00000618155.3	protein_coding					2094		chr5	TogoVar
EEPD1_chr7_36148254_36306538	36178216	ACAACTGC others(41): Show ACAACTGCCATCCCCGCGGTTACTGTTCACTGTCACTTTCTTCTCCAGC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp2 HG03098.hp1 others(2): Show HG02615.hp2 HG02622.hp2 HG03098.hp1 HG03209.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 a0001c0004t0012	a0001c0001t0001g0102 a0001c0001t0002g0012 a0001c0004t0006g0013 others(2): Show a0001c0001t0001g0102 a0001c0001t0002g0012 a0001c0004t0006g0013 a0001c0004t0006g0258 a0001c0004t0012g0196	5	346	0.0145	-48	c.878 others(67): Show c.878+23016_878+23063delAACTGCCATCCCCGCGGTTACTGTTC ACTGTCACTTTCTTCTCCAGCC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36197241	GGGGGGGT others(41): Show GGGGGGGTCAGGCCCCCGCCCGGGCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0038 a0002c0003t0038	a0002c0003t0038g0001 a0002c0003t0038g0001	1	346	0.0029	-48	c.879 others(67): Show c.879-41737_879-41690delTCAGGCCCCCGCCCGGGCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36305359	TTCCCACT others(41): Show TTCCCACTCTCTCATGCTCCCGTGCTCCCCCTCTTCCATGCTCCCATGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	346	0.0029	-48	c.61 others(59): Show c.6154_*6201delTCCCACTCTCTCATGCTCCCGTGCTCCCCCTCTT CCATGCTCCCATGC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding					3822		chr7	TogoVar
EGFL7_chr9_136657916_136677678	136671139	AGGCAGGC others(41): Show AGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCGTCGGGGG	A A	intron_variant intron_variant	MODIFIER	HG04228.hp1 NA18974.hp1 NA18984.hp2 HG04228.hp1 NA18974.hp1 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0074 a0001c0001t0001g0039 a0001c0001t0001g0074	3	432	0.0069	-48	c.636 others(63): Show c.636+207_636+254delGTGAGGCGTCGGGGGGGCAGGCAGTCCAGG GTGGACCTGCTGGAGGAG		EGFL7	ENSG00000172889.16	transcript	ENST00000308874.12	protein_coding	9/10					INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF3H_chr8_116637130_116760823	116679121	GGGGTCAG others(41): Show GGGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGT	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG01123.hp2 others(46): Show HG00280.hp2 HG00323.hp1 HG01123.hp2 HG01243.hp1 HG01891.hp1 HG02055.hp2 HG02109.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03654.hp1 NA18522.hp1 NA18999.hp1 NA19030.hp1 NA19043.hp1 NA19064.hp2 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0010 a0001c0001t0001 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0196 others(46): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0196 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0329 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0202 a0001c0001t0005g0216 a0001c0001t0005g0218 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0224 a0001c0001t0005g0226 a0001c0001t0005g0227 a0001c0001t0005g0228 a0001c0001t0005g0233 a0001c0001t0005g0237 a0001c0001t0010g0247 a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0333	49	336	0.1458	-48	c.290 others(67): Show c.290-20189_290-20142delACCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGGGGGCTGACCC		EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	2/7						chr8	TogoVar
EIF4A1_chr17_7567825_7584006	7571864	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02723.hp1 HG03453.hp2 HG02486.hp1 HG02723.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0009t0003 a0001c0001t0001 a0001c0001t0003 a0001c0009t0003	a0001c0001t0001g0022 a0001c0001t0003g0015 a0001c0009t0003g0015 a0001c0001t0001g0022 a0001c0001t0003g0015 a0001c0009t0003g0015	3	436	0.0069	-48	c.-97 others(57): Show c.-977_-930delATATATATATATATATATATATATATATATATATAT ATATATATAAAA		EIF4A1	ENSG00000161960.16	transcript	ENST00000293831.13	protein_coding					960		chr17	TogoVar
EIF4G3_chr1_20801479_21181897	20815779	GGGGGGGT others(41): Show GGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCAGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	312	0.0032	-48	c.451 others(67): Show c.4515+1565_4515+1612delACCTCCCTCCCGGACTGGGCGGCTGG CCGGGTGGGGGGCTGACCCCCC		EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	34/36						chr1	TogoVar
EIPR1_chr2_3183970_3382818	3191169	CAAAGACA others(41): Show CAAAGACAGAGACAATCAGATGGGCCCATCGCCACTGCAGAGAGGGTCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp2 others(92): Show HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00544.hp1 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01255.hp1 HG01346.hp1 HG01515.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18963.hp2 NA18970.hp1 NA18979.hp1 NA18995.hp2 NA18999.hp2 NA19004.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19064.hp2 NA19066.hp1 NA19084.hp2 NA19085.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0005 a0001c0005t0001 a0001c0006t0003	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(92): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0175 a0001c0001t0001g0246 a0001c0001t0002g0010 a0001c0001t0002g0013 a0001c0001t0002g0174 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0025 a0001c0001t0003g0028 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0042 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0070 a0001c0001t0003g0075 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0196 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0209 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0215 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0234 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0244 a0001c0001t0003g0247 a0001c0001t0004g0008 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0002t0001g0092 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094 a0001c0005t0001g0104 a0001c0006t0003g0203	95	250	0.3800	-48	c.989 others(65): Show c.989+1197_989+1244delAGACCCTCTCTGCAGTGGCGATGGGCCC ATCTGATTGTCTCTGTCTTT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	8/8						chr2	TogoVar
EIPR1_chr2_3183970_3382818	3191170	AAAGACAG others(41): Show AAAGACAGAGACAATCAGATGGGCCCATCGCCACTGCAGAGAGGGTCTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00621.hp2 others(93): Show HG00140.hp2 HG00280.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp2 HG02145.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18952.hp1 NA18952.hp2 NA18957.hp1 NA18971.hp1 NA18983.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19030.hp1 NA19030.hp2 NA19079.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 others(93): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0197 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0245 a0001c0001t0003g0091 a0001c0001t0003g0131 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0001t0007g0249 a0001c0001t0007g0250 a0001c0001t0008g0076 a0001c0003t0001g0095 a0001c0003t0001g0193 a0001c0004t0001g0074	96	250	0.3840	-48	c.989 others(65): Show c.989+1196_989+1243delCAGACCCTCTCTGCAGTGGCGATGGGCC CATCTGATTGTCTCTGTCTT		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	8/8						chr2	TogoVar
ELL2_chr5_95880098_95966851	95927630	CACACACG others(41): Show CACACACGTGTGTATATAGACATACACACACACGTGTGTATATAGACAT	C C	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18994.hp2 NA19009.hp2 others(1): Show NA18973.hp2 NA18994.hp2 NA19009.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0191 others(1): Show a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0191 a0001c0001t0003g0192	4	314	0.0127	-48	c.196 others(65): Show c.196-8133_196-8086delATGTCTATATACACACGTGTGTGTGTAT GTCTATATACACACGTGTGT		ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11						chr5	TogoVar
ELOVL5_chr6_53262404_53353950	53306230	AGGGGAGA others(41): Show AGGGGAGAGGGAGAGGGGAGAGGGGAGAGGGAGAGGGGAGAGGGGAGAG	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01071.hp1 others(15): Show HG00423.hp1 HG01070.hp1 HG01071.hp1 HG02523.hp1 HG03139.hp1 HG03492.hp2 NA18941.hp1 NA18951.hp2 NA18978.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA19060.hp1 NA19067.hp2 NA19087.hp2 NA19090.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0088 others(14): Show a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0088 a0001c0001t0001g0092 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0003g0093 a0001c0001t0003g0101 a0001c0001t0003g0116	18	320	0.0563	-48	c.-8- others(65): Show c.-8-10571_-8-10524delCTCTCCCCTCTCCCCTCTCCCTCTCCCC TCTCCCCTCTCCCTCTCCCC		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60802073	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	258	0.0039	-48	c.-85 others(65): Show c.-85-2891_-85-2844delGTGTATATATATATATATATATATATAT ATATATATATATATATATAT		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELSPBP1_chr19_47989632_48030154	48016499	TCTTTCTT others(41): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0297 a0003c0003t0001g0297	1	388	0.0026	-48	c.355 others(63): Show c.355+464_355+511delTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TTCCTTCCTTCCTTCCTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
EMC10_chr19_50471507_50495871	50471642	ATATACGC others(41): Show ATATACGCATACATGCACGTGTGTGTATACGCATACATGCACGTGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0135 a0001c0001t0135	a0001c0001t0135g0002 a0001c0001t0135g0002	1	352	0.0028	-48	c.-49 others(59): Show c.-4902_-4855delTATACGCATACATGCACGTGTGTGTATACGCATA CATGCACGTGTGTG		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					4864		chr19	TogoVar
EMC10_chr19_50471507_50495871	50471707	CGTGTGTG others(41): Show CGTGTGTGTATACGCATACATGCACGTGTGTGTATACGCATACATGCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0132 a0001c0001t0132	a0001c0001t0132g0002 a0001c0001t0132g0002	1	352	0.0028	-48	c.-48 others(59): Show c.-4837_-4790delGTGTGTGTATACGCATACATGCACGTGTGTGTAT ACGCATACATGCAT		EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding					4799		chr19	TogoVar
ENDOV_chr17_80410167_80443086	80422377	TCGGCGCA others(41): Show TCGGCGCAACGGGGACGCGCAGTGCGCTCAGCCCCGCCTCCCCCACCGC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	420	0.0024	-48	c.403 others(63): Show c.403+136_403+183delCGCAACGGGGACGCGCAGTGCGCTCAGCCC CGCCTCCCCCACCGCCGG		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENKUR_chr10_24976985_25021158	24988664	GTATATAT others(41): Show GTATATATATATATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00408.hp1 others(179): Show HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01496.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18949.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp2 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18967.hp1 NA18971.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp2 NA18989.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0002c0002 a0004c0005 others(1): Show a0001c0001 a0002c0002 a0004c0005 a0006c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0002c0002t0002 a0002c0002t0017 a0004c0005t0001 a0006c0003t0003	a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 others(105): Show a0001c0001t0001g0028 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0077 a0001c0001t0001g0095 a0001c0001t0001g0123 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0009 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0025 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0227 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0003g0004 a0001c0001t0003g0016 a0001c0001t0003g0026 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0004g0056 a0001c0001t0004g0245 a0001c0001t0004g0246 a0001c0001t0004g0247 a0001c0001t0004g0249 a0001c0001t0004g0251 a0001c0001t0005g0248 a0001c0001t0005g0250 a0001c0001t0005g0252 a0001c0001t0005g0253 a0001c0001t0005g0254 a0001c0001t0008g0019 a0001c0001t0008g0096 a0001c0001t0009g0037 a0001c0001t0009g0119 a0001c0001t0009g0120 a0001c0001t0011g0015 a0001c0001t0012g0078 a0001c0001t0012g0102 a0001c0001t0012g0242 a0001c0001t0013g0021 a0001c0001t0018g0107 a0001c0001t0021g0258 a0002c0002t0002g0008 a0002c0002t0002g0255 a0002c0002t0002g0257 a0002c0002t0017g0256 a0004c0005t0001g0074 a0006c0003t0003g0057	182	384	0.4740	-48	c.594 others(65): Show c.594+1751_594+1798delTATATATATATATATATATATATATATA TATATATATATATATATATA		ENKUR	ENSG00000151023.17	transcript	ENST00000331161.9	protein_coding	4/5						chr10	TogoVar
ENOSF1_chr18_665318_717630	666939	AGATGGTG others(41): Show AGATGGTGATGGTGATGGAGATGGAGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 NA20300.hp2 HG02922.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0107 a0001c0001t0006g0226 a0001c0001t0006g0107 a0001c0001t0006g0226	2	418	0.0048	-48	c.73 others(59): Show c.7318_*7365delACCATCTCCATCTCCATCACCATCTCCATCTCCA TCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3378		chr18	TogoVar
ENOSF1_chr18_665318_717630	666951	TGATGGAG others(41): Show TGATGGAGATGGAGATGGTGATGGAGATGGAGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0227 a0001c0001t0002g0227	1	418	0.0024	-48	c.73 others(59): Show c.7306_*7353delTCCATCACCATCACCATCTCCATCTCCATCACCA TCTCCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3366		chr18	TogoVar
ENOSF1_chr18_665318_717630	667017	AGATGGAG others(41): Show AGATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGAGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0024	a0002c0002t0024g0061 a0002c0002t0024g0061	1	418	0.0024	-48	c.72 others(59): Show c.7240_*7287delACCATCTCCATCTCCATCACCATCACCATCTCCA TCACCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3300		chr18	TogoVar
ENOSF1_chr18_665318_717630	667095	AGATGGAG others(41): Show AGATGGAGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG02717.hp1 HG01433.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0034 a0002c0002t0005 a0001c0001t0034 a0002c0002t0005	a0001c0001t0034g0105 a0002c0002t0005g0003 a0001c0001t0034g0105 a0002c0002t0005g0003	2	418	0.0048	-48	c.71 others(59): Show c.7162_*7209delACCATCACCATCTCCATCACCATCACCATCACCA TCTCCATCTCCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3222		chr18	TogoVar
ENOSF1_chr18_665318_717630	667481	TGATGGTG others(41): Show TGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0340 a0001c0003t0001g0340	1	418	0.0024	-48	c.67 others(59): Show c.6776_*6823delTCCATCACCATCACCATCACCATCACCATCTCCA TCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2836		chr18	TogoVar
ENOSF1_chr18_665318_717630	667505	TGATGGTG others(41): Show TGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0341 a0001c0003t0001g0341	1	418	0.0024	-48	c.67 others(59): Show c.6752_*6799delTCCATCACCATCACCATCACCATCTCCATCACCA TCACCATCACCATC		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					2812		chr18	TogoVar
ENTR1_chr9_136396922_136415614	136403295	CCCAGGGA others(41): Show CCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAGGGTT	C C	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03492.hp2 HG00673.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0178 a0001c0001t0001g0123 a0001c0001t0001g0178	2	412	0.0049	-48	c.120 others(65): Show c.1209-456_1209-409delAACCCTGTCCCTTTCTCCCCCCGGCAAA CCCCACCCCTTGCTCCCTGG		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
ENTR1_chr9_136396922_136415614	136403416	CGGGGAAG others(41): Show CGGGGAAGAAAGGGACAGGGTTCCTGGGAGCAAGGGGTGGGGTTTGCCG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03540.hp1 HG02922.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0184 a0001c0001t0001g0165 a0001c0001t0001g0184	2	412	0.0049	-48	c.120 others(65): Show c.1209-577_1209-530delCGGCAAACCCCACCCCTTGCTCCCAGGA ACCCTGTCCCTTTCTTCCCC		ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9						chr9	TogoVar
EPB41L2_chr6_130834347_131068245	131066250	CCAAGAGA others(41): Show CCAAGAGAACAAAAACAAATGCTGCAAGGCCTGCAAGGGCTTTGCCCAG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	356	0.0028	-48	c.-31 others(59): Show c.-3158_-3111delCTGGGCAAAGCCCTTGCAGGCCTTGCAGCATTTG TTTTTGTTCTCTTG		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding					3006		chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112339471	TATCTATA others(41): Show TATCTATATATATATATATATATATCTATATATATATATAGATATATAG	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0011 a0004c0014t0011	a0004c0014t0011g0069 a0004c0014t0011g0069	1	228	0.0044	-48	c.100 others(67): Show c.100-32029_100-31982delCTATATATCTATATATATATATAGAT ATATATATATATATATATAGAT		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22						chr5	TogoVar
EPHA10_chr1_37710976_37770120	37753663	CGGGAGCA others(41): Show CGGGAGCAGGGGTGAGTGGGAGCAGGGGCGAGCGGGAGCAGGGGTGAGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(50): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00642.hp2 HG00741.hp2 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01175.hp2 HG01255.hp2 HG01346.hp2 HG01496.hp2 HG01928.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02083.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02738.hp1 HG02922.hp2 HG03486.hp1 HG03516.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 NA18944.hp1 NA18945.hp1 NA18962.hp1 NA18973.hp1 NA18979.hp1 NA18981.hp2 NA18984.hp2 NA18999.hp1 NA19000.hp2 NA19009.hp1 NA19064.hp1 NA19082.hp1 NA19085.hp1 NA20752.hp1 NA20905.hp2	a0001 a0004 a0005 others(4): Show a0001 a0004 a0005 a0006 a0017 a0024 a0026	a0001c0001 a0001c0036 a0004c0003 others(6): Show a0001c0001 a0001c0036 a0004c0003 a0004c0038 a0005c0010 a0006c0009 a0017c0046 a0024c0041 a0026c0039	a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0013 a0001c0001t0017 a0001c0036t0001 a0004c0003t0003 a0004c0038t0003 a0005c0010t0002 a0006c0009t0003 a0017c0046t0001 a0024c0041t0002 a0026c0039t0001	a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0053 others(49): Show a0001c0001t0001g0005 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0222 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0211 a0001c0001t0013g0058 a0001c0001t0013g0077 a0001c0001t0017g0082 a0001c0036t0001g0066 a0004c0003t0003g0072 a0004c0003t0003g0079 a0004c0003t0003g0117 a0004c0003t0003g0223 a0004c0038t0003g0227 a0005c0010t0002g0054 a0005c0010t0002g0089 a0005c0010t0002g0090 a0006c0009t0003g0060 a0006c0009t0003g0229 a0017c0046t0001g0122 a0024c0041t0002g0091 a0026c0039t0001g0061	53	382	0.1387	-48	c.100 others(65): Show c.1007-485_1007-438delACTCACCCCTGCTCCCGCTCGCCCCTGC TCCCACTCACCCCTGCTCCC		EPHA10	ENSG00000183317.17	transcript	ENST00000373048.9	protein_coding	4/16						chr1	TogoVar
EPSTI1_chr13_42881388_42997241	42965734	GTCTCCCT others(41): Show GTCTCCCTCTCCCTCGTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0243 a0006c0014t0002g0243	1	352	0.0028	-48	c.332 others(65): Show c.332-1643_332-1596delGGGAGAGGGAGAGGAGGGAGAGGGAGAG GGAGACGAGGGAGAGGGAGA		EPSTI1	ENSG00000133106.15	transcript	ENST00000313624.12	protein_coding	3/10						chr13	TogoVar
EPX_chr17_58187726_58210174	58203900	CCAGCCTG others(41): Show CCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0002 a0003c0014t0002	a0003c0014t0002g0047 a0003c0014t0002g0047	1	404	0.0025	-48	c.194 others(65): Show c.1947-321_1947-274delCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA		EPX	ENSG00000121053.6	transcript	ENST00000225371.6	protein_coding	11/12						chr17	TogoVar
ERBB4_chr2_211370717_212543802	212192755	CTGATATC others(41): Show CTGATATCTGAAAAGTTTGCCCAGTTACACTGAGGACCGATCAATAGTG	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp1 HG03225.hp2 others(5): Show HG01175.hp2 HG02258.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03579.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0017 a0001c0001t0026 a0001c0002t0001 a0002c0003t0001	a0001c0001t0002g0047 a0001c0001t0004g0008 a0001c0001t0005g0015 others(5): Show a0001c0001t0002g0047 a0001c0001t0004g0008 a0001c0001t0005g0015 a0001c0001t0011g0041 a0001c0001t0017g0029 a0001c0001t0026g0052 a0001c0002t0001g0048 a0002c0003t0001g0014	8	56	0.1429	-48	c.83- others(65): Show c.83-67900_83-67853delCACTATTGATCGGTCCTCAGTGTAACTG GGCAAACTTTTCAGATATCA		ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	1/27						chr2	TogoVar
ERBIN_chr5_65921575_66087546	65940428	CCCCCGCC others(41): Show CCCCCGCCCGGCCAGCTGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGT	C C	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	306	0.0033	-48	c.-58 others(67): Show c.-58+13627_-58+13674delGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGTCCCC		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERBIN_chr5_65921575_66087546	65977201	CCCCCCCA others(41): Show CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0007 a0005c0006t0007	a0005c0006t0007g0223 a0005c0006t0007g0223	1	306	0.0033	-48	c.-57 others(67): Show c.-57-11427_-57-11380delACCTCCCTCCCGGATGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCC		ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	1/25					INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC2_chr3_55503311_56473467	55864110	TATATATA others(41): Show TATATATATACACACACACATATATATATACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01099.hp1 HG01169.hp2 others(2): Show HG01071.hp2 HG01099.hp1 HG01169.hp2 HG02258.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0002g0008 others(2): Show a0001c0001t0001g0015 a0001c0001t0001g0048 a0001c0001t0002g0008 a0001c0001t0003g0069 a0001c0002t0002g0016	5	74	0.0676	-48	c.256 others(69): Show c.2564+24231_2564+24278delGTGTATATATATATATATGTATAT ATATATGTGTGTGTGTATATATAT		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	14/17						chr3	TogoVar
ERC2_chr3_55503311_56473467	56348919	GGAAGGAA others(41): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0072 a0001c0001t0009g0073 a0001c0001t0002g0072 a0001c0001t0009g0073	2	74	0.0270	-48	c.658 others(67): Show c.658-52532_658-52485delTTTCTTTCTTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTC		ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	2/17						chr3	TogoVar
ERCC6_chr10_49449470_49544121	49526091	TTATATAT others(41): Show TTATATATTTATATATTTATATATTTTTATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG02922.hp1 others(1): Show HG00642.hp1 HG00741.hp2 HG02922.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0012 a0002c0002t0009g0326 a0002c0002t0009g0328 a0002c0002t0009g0012 a0002c0002t0009g0326 a0002c0002t0009g0328	4	388	0.0103	-48	c.653 others(65): Show c.653-1362_653-1315delTATATATATATATATATATATAAAAATA TATAAATATATAAATATATA		ERCC6	ENSG00000225830.16	transcript	ENST00000355832.10	protein_coding	4/20						chr10	TogoVar

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Search Results (Total: 2076 hits)