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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
DYSF_chr2_71448561_71691763	71554933	ATGGATGG others(18): Show ATGGATGGGGACAGCTGGTGAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0116 a0001c0003t0001g0116	1	192	0.0052	-25	c.205 others(44): Show c.2055+1007_2056-1003delTGGGGACAGCTGGTGAGAAAGTGGA		DYSF	ENSG00000135636.16	transcript	ENST00000258104.8	protein_coding	21/54					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71543837	CAGAGGGA others(18): Show CAGAGGGAGACCGTGGAAAGAGAGGG	C C	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	208	0.0048	-25	c.157 others(44): Show c.1576+4614_1576+4638delAAAGAGAGGGAGAGGGAGACCGTGG		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	17/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
DYSF_chr2_71461699_71691763	71554933	ATGGATGG others(18): Show ATGGATGGGGACAGCTGGTGAGAAAG	A A	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0013 a0001c0003t0001g0013	1	208	0.0048	-25	c.210 others(44): Show c.2109+1007_2110-1003delTGGGGACAGCTGGTGAGAAAGTGGA		DYSF	ENSG00000135636.16	transcript	ENST00000410020.8	protein_coding	21/55					INFO_REALIGN_3_PRIME	chr2	TogoVar
E2F8_chr11_19219063_19245945	19221226	CTTGCTTT others(18): Show CTTGCTTTAAAGTCGATTAACAAATT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0205 a0001c0001t0024g0205	1	438	0.0023	-25	c.34 others(36): Show c.3407_*3431delAATTTGTTAATCGACTTTAAAGCAA		E2F8	ENSG00000129173.13	transcript	ENST00000250024.9	protein_coding					2836		chr11	TogoVar
EAF2_chr3_121830209_121891526	121841519	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(38): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG01071.hp2 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01361.hp1 HG01496.hp2 HG02055.hp1 HG02083.hp2 HG02148.hp2 HG02258.hp2 HG02280.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02922.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03225.hp1 HG03486.hp1 HG03688.hp1 HG04184.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18990.hp1 NA18997.hp2 NA18999.hp1 NA19067.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 others(33): Show a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0218 a0001c0001t0002g0237	41	318	0.1289	-25	c.107 others(42): Show c.107-2930_107-2906delAAAAAAAAAAAAAAAAAAAAAGAAA		EAF2	ENSG00000145088.9	transcript	ENST00000273668.7	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
ECM2_chr9_92490315_92540990	92533315	AAAAAAAA others(18): Show AAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0037 a0001c0005t0001g0037	1	400	0.0025	-25	c.-28 others(42): Show c.-28+2593_-28+2617delATATATATATATTTTTTTTTTTTTT		ECM2	ENSG00000106823.13	transcript	ENST00000344604.10	protein_coding	1/9						chr9	TogoVar
EDARADD_chr1_236389286_236489930	236405765	CTTTCTTT others(18): Show CTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01168.hp1 HG01192.hp2 others(4): Show HG00423.hp1 HG01168.hp1 HG01192.hp2 HG01256.hp1 HG03017.hp2 HG03669.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0002 a0001c0001 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021 a0001c0004t0005 a0002c0002t0001	a0001c0001t0001g0207 a0001c0001t0002g0096 a0001c0001t0003g0102 others(4): Show a0001c0001t0001g0207 a0001c0001t0002g0096 a0001c0001t0003g0102 a0001c0001t0003g0219 a0001c0001t0021g0217 a0001c0004t0005g0175 a0002c0002t0001g0268	7	294	0.0238	-25	c.62- others(40): Show c.62-3443_62-3419delCTTTCTTTCTTTCTTTCTTTTCTTT		EDARADD	ENSG00000186197.15	transcript	ENST00000334232.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr1	TogoVar
EDA_chrX_69611113_70044472	69612261	GTTTTATT others(18): Show GTTTTATTTTATTTTATTTTATTTTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00438.hp2 HG00733.hp2 others(24): Show HG00140.hp1 HG00438.hp2 HG00733.hp2 HG01074.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02004.hp2 HG02056.hp1 HG02683.hp1 HG02976.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03927.hp1 NA18906.hp1 NA18959.hp1 NA18967.hp1 NA18988.hp1 NA19088.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0005 a0001c0001 a0001c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0016 a0001c0004t0001 a0002c0005t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0097 a0001c0001t0001g0106 a0001c0001t0001g0118 a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0051 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0076 a0001c0001t0003g0066 a0001c0001t0003g0114 a0001c0001t0003g0116 a0001c0001t0005g0010 a0001c0001t0005g0011 a0001c0001t0005g0120 a0001c0001t0009g0007 a0001c0001t0016g0003 a0001c0004t0001g0005 a0002c0005t0001g0018	27	226	0.1195	-25	c.-40 others(36): Show c.-4047_-4023delTTTTATTTTATTTTATTTTATTTTA		EDA	ENSG00000158813.18	transcript	ENST00000374552.9	protein_coding					3851		chrX	TogoVar
EDIL3_chr5_83935554_84389880	84160744	TCTTTCCT others(18): Show TCTTTCCTTTCCTTTCCTTTCCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02896.hp1 HG02897.hp1 HG01109.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0020 a0001c0004t0010 a0001c0001t0020 a0001c0004t0010	a0001c0001t0020g0158 a0001c0004t0010g0156 a0001c0004t0010g0157 a0001c0001t0020g0158 a0001c0004t0010g0156 a0001c0004t0010g0157	3	158	0.0190	-25	c.355 others(44): Show c.355+19624_355+19648delGAAAGGAAAGGAAAGGAAAGGAAAG		EDIL3	ENSG00000164176.13	transcript	ENST00000296591.10	protein_coding	4/10						chr5	TogoVar
EDNRB_chr13_77890487_77923831	77923220	GGTCTACT others(18): Show GGTCTACTTTAATTAAAATTAGACAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0143 a0001c0004t0001g0143	1	406	0.0025	-25	c.-46 others(36): Show c.-4672_-4648delTTGTCTAATTTTAATTAAAGTAGAC		EDNRB	ENSG00000136160.17	transcript	ENST00000646607.2	protein_coding					4390		chr13	TogoVar
EEA1_chr12_92765637_92934295	92921883	AAAAGAAA others(18): Show AAAAGAAAAAAAGAAAAGAAAGCTAT	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	244	0.0041	-25	c.24+ others(40): Show c.24+7135_24+7159delATAGCTTTCTTTTCTTTTTTTCTTT		EEA1	ENSG00000102189.17	transcript	ENST00000322349.13	protein_coding	1/28						chr12	TogoVar
EEPD1_chr7_36148254_36306538	36196380	GTCTCCCT others(18): Show GTCTCCCTCTCCCATCTCCCTCTCCC	G G	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02486.hp1 HG02809.hp1 others(4): Show HG00741.hp2 HG02486.hp1 HG02809.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019	a0001c0001t0004g0191 a0001c0001t0006g0104 a0001c0001t0012g0197 others(4): Show a0001c0001t0004g0191 a0001c0001t0006g0104 a0001c0001t0012g0197 a0001c0001t0015g0182 a0001c0001t0015g0183 a0001c0001t0019g0004 a0001c0001t0019g0005	7	346	0.0202	-25	c.878 others(44): Show c.878+41209_878+41233delCTCTCCCATCTCCCTCTCCCTCTCC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36234939	GGCCTCCA others(18): Show GGCCTCCAGCCCAGGCCTCCCCCATA	G G	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG03540.hp1 HG01192.hp2 HG02109.hp1 HG03540.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0014 a0001c0001 a0001c0004 a0002c0014	a0001c0001t0057 a0001c0004t0019 a0002c0014t0031 a0001c0001t0057 a0001c0004t0019 a0002c0014t0031	a0001c0001t0057g0174 a0001c0004t0019g0010 a0002c0014t0031g0064 a0001c0001t0057g0174 a0001c0004t0019g0010 a0002c0014t0031g0064	3	346	0.0087	-25	c.879 others(42): Show c.879-4022_879-3998delTAGCCTCCAGCCCAGGCCTCCCCCA		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271798	CCTATTCT others(18): Show CCTATTCTATTCTATTCTATTCTATT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01358.hp2 HG01433.hp2 others(2): Show HG01175.hp2 HG01358.hp2 HG01433.hp2 HG02040.hp2 NA19005.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0009 a0001c0001 a0002c0003 a0002c0009	a0001c0001t0005 a0001c0001t0010 a0001c0001t0023 others(2): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0023 a0002c0003t0037 a0002c0009t0006	a0001c0001t0005g0026 a0001c0001t0010g0108 a0001c0001t0023g0087 others(2): Show a0001c0001t0005g0026 a0001c0001t0010g0108 a0001c0001t0023g0087 a0002c0003t0037g0304 a0002c0009t0006g0288	5	346	0.0145	-25	c.931 others(42): Show c.931-9256_931-9232delCTATTCTATTCTATTCTATTCTATT		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EEPD1_chr7_36148254_36306538	36271859	CTATTCTA others(18): Show CTATTCTATTCTATTCTATTCTATTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG01106.hp1 others(31): Show HG00099.hp2 HG00438.hp2 HG01106.hp1 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02486.hp2 HG02622.hp2 HG02647.hp1 HG03041.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03834.hp2 NA18944.hp2 NA18946.hp2 NA18951.hp2 NA18970.hp2 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19004.hp1 NA19011.hp1 NA19062.hp1 NA19240.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0003c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(15): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0032 a0001c0001t0037 a0001c0001t0049 a0001c0001t0055 a0001c0001t0064 a0001c0004t0006 a0001c0006t0002 a0003c0002t0034	a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 others(31): Show a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0002g0067 a0001c0001t0002g0074 a0001c0001t0002g0110 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0134 a0001c0001t0002g0139 a0001c0001t0002g0158 a0001c0001t0002g0187 a0001c0001t0002g0254 a0001c0001t0002g0283 a0001c0001t0003g0334 a0001c0001t0004g0201 a0001c0001t0004g0204 a0001c0001t0005g0047 a0001c0001t0006g0070 a0001c0001t0007g0024 a0001c0001t0007g0028 a0001c0001t0008g0198 a0001c0001t0010g0194 a0001c0001t0013g0203 a0001c0001t0032g0192 a0001c0001t0037g0106 a0001c0001t0049g0226 a0001c0001t0055g0154 a0001c0001t0064g0273 a0001c0004t0006g0258 a0001c0006t0002g0332 a0003c0002t0034g0071 a0003c0002t0034g0142	34	346	0.0983	-25	c.931 others(42): Show c.931-9240_931-9216delTATTCTATTGTATTCTATTCTATTC		EEPD1	ENSG00000122547.12	transcript	ENST00000242108.9	protein_coding	3/7					INFO_REALIGN_3_PRIME	chr7	TogoVar
EFCAB2_chr1_244964682_245092837	244968665	GACAGAGC others(18): Show GACAGAGCGAGACCCTGTCTCGAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0278 a0001c0001t0011g0278	1	290	0.0035	-25	c.-14 others(36): Show c.-1468_-1444delACAGAGCGAGACCCTGTCTCGAAAA		EFCAB2	ENSG00000203666.13	transcript	ENST00000366523.6	protein_coding					1016		chr1	TogoVar
EFCAB5_chr17_29936634_30113452	30097036	ACATATAC others(18): Show ACATATACATATACATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01346.hp2 others(12): Show HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG02132.hp2 HG02258.hp2 HG02615.hp2 HG02647.hp2 HG02965.hp2 HG03041.hp2 HG03486.hp2 HG03579.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0020 a0003c0003 a0001c0001 a0002c0020 a0003c0003	a0001c0001t0001 a0002c0020t0002 a0003c0003t0002 a0001c0001t0001 a0002c0020t0002 a0003c0003t0002	a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 others(12): Show a0001c0001t0001g0109 a0001c0001t0001g0114 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0149 a0001c0001t0001g0183 a0001c0001t0001g0197 a0002c0020t0002g0019 a0003c0003t0002g0140 a0003c0003t0002g0141 a0003c0003t0002g0142 a0003c0003t0002g0143 a0003c0003t0002g0145 a0003c0003t0002g0216	15	248	0.0605	-25	c.432 others(44): Show c.4321+4101_4321+4125delCATATACATATACATATATATATAT		EFCAB5	ENSG00000176927.16	transcript	ENST00000394835.8	protein_coding	22/22						chr17	TogoVar
EFCAB6_chr22_43523778_43817305	43589280	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03579.hp1 HG03041.hp2 HG03579.hp1	a0024 a0027 a0024 a0027	a0024c0033 a0027c0030 a0024c0033 a0027c0030	a0024c0033t0001 a0027c0030t0009 a0024c0033t0001 a0027c0030t0009	a0024c0033t0001g0181 a0027c0030t0009g0290 a0024c0033t0001g0181 a0027c0030t0009g0290	2	290	0.0069	-25	c.303 others(42): Show c.3032+769_3032+793delTTTTTTTTTTTTTTTTTTTTTTTTT		EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	24/31						chr22	TogoVar
EFHC2_chrX_44142872_44348672	44251597	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02280.hp2 HG02451.hp1 others(9): Show HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02615.hp2 HG02723.hp1 HG02970.hp1 HG02976.hp2 HG03486.hp1 HG06807.hp1 NA18966.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0006t0001 a0001c0006t0006	a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0103 others(9): Show a0001c0001t0001g0017 a0001c0001t0001g0076 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0111 a0001c0001t0001g0194 a0001c0001t0003g0138 a0001c0001t0009g0198 a0001c0006t0001g0018 a0001c0006t0001g0029 a0001c0006t0001g0030 a0001c0006t0006g0106	12	221	0.0543	-25	c.607 others(42): Show c.607-1177_607-1153delTTTTTTTTTTTTTTTTTTTTTTTTT		EFHC2	ENSG00000183690.13	transcript	ENST00000420999.2	protein_coding	4/14						chrX	TogoVar
EGFR_chr7_55014017_55216628	55043584	ACTCCTGG others(18): Show ACTCCTGGCCTCAAGAGAACCGCCCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG00639.hp1 others(39): Show HG00280.hp2 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01192.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01993.hp2 HG02055.hp1 HG02293.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02723.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03239.hp2 HG03486.hp2 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp1 NA18522.hp2 NA18945.hp1 NA18946.hp1 NA18965.hp1 NA19043.hp2 NA19056.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0010 a0001c0013 a0001c0019 a0001c0020 a0001c0023 a0001c0032 a0001c0034 a0002c0002 a0002c0009 a0002c0018 a0004c0029	a0001c0001t0001 a0001c0001t0022 a0001c0001t0029 others(28): Show a0001c0001t0001 a0001c0001t0022 a0001c0001t0029 a0001c0001t0055 a0001c0003t0005 a0001c0003t0010 a0001c0003t0015 a0001c0004t0004 a0001c0004t0006 a0001c0004t0010 a0001c0004t0025 a0001c0005t0003 a0001c0005t0004 a0001c0005t0025 a0001c0005t0032 a0001c0007t0003 a0001c0007t0013 a0001c0010t0031 a0001c0013t0051 a0001c0013t0053 a0001c0019t0006 a0001c0020t0001 a0001c0023t0024 a0001c0032t0003 a0001c0034t0036 a0002c0002t0021 a0002c0002t0030 a0002c0002t0033 a0002c0009t0007 a0002c0018t0007 a0004c0029t0040	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 others(39): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0170 a0001c0001t0022g0015 a0001c0001t0029g0232 a0001c0001t0055g0165 a0001c0003t0005g0047 a0001c0003t0010g0214 a0001c0003t0010g0220 a0001c0003t0010g0221 a0001c0003t0010g0226 a0001c0003t0015g0229 a0001c0003t0015g0230 a0001c0003t0015g0231 a0001c0004t0004g0142 a0001c0004t0006g0018 a0001c0004t0010g0235 a0001c0004t0025g0016 a0001c0005t0003g0186 a0001c0005t0004g0112 a0001c0005t0025g0246 a0001c0005t0032g0237 a0001c0007t0003g0216 a0001c0007t0013g0227 a0001c0007t0013g0228 a0001c0010t0031g0211 a0001c0013t0051g0204 a0001c0013t0053g0135 a0001c0019t0006g0115 a0001c0020t0001g0158 a0001c0023t0024g0208 a0001c0032t0003g0215 a0001c0034t0036g0240 a0002c0002t0021g0236 a0002c0002t0030g0234 a0002c0002t0033g0159 a0002c0009t0007g0109 a0002c0018t0007g0110 a0002c0018t0007g0134 a0004c0029t0040g0209	42	250	0.1680	-25	c.88+ others(42): Show c.88+24222_88+24246delCCTGGCCTCAAGAGAACCGCCCCCT		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	1/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EGFR_chr7_55014017_55216628	55203222	CATACACA others(18): Show CATACACACCACACACACATACATGT	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp1 others(19): Show HG02055.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp2 HG02647.hp2 HG02818.hp1 HG02896.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(6): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0012 a0001c0022 a0001c0023 a0001c0042 a0001c0044	a0001c0001t0001 a0001c0001t0055 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0055 a0001c0003t0001 a0001c0003t0004 a0001c0004t0001 a0001c0004t0004 a0001c0005t0001 a0001c0005t0004 a0001c0012t0004 a0001c0022t0001 a0001c0023t0001 a0001c0042t0004 a0001c0044t0004	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 others(19): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0081 a0001c0001t0001g0104 a0001c0001t0001g0170 a0001c0001t0001g0247 a0001c0001t0055g0165 a0001c0003t0001g0100 a0001c0003t0001g0241 a0001c0003t0001g0242 a0001c0003t0004g0174 a0001c0004t0001g0006 a0001c0004t0004g0142 a0001c0005t0001g0152 a0001c0005t0001g0153 a0001c0005t0004g0112 a0001c0005t0004g0129 a0001c0012t0004g0141 a0001c0022t0001g0019 a0001c0023t0001g0075 a0001c0042t0004g0150 a0001c0044t0004g0143	22	250	0.0880	-25	c.327 others(42): Show c.3271+606_3271+630delCACACACACATACATGTATACACAC		EGFR	ENSG00000146648.21	transcript	ENST00000275493.7	protein_coding	27/27					INFO_REALIGN_3_PRIME	chr7	TogoVar
EGF_chr4_109907883_110018766	109951146	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0024 a0003c0003t0005g0024	1	388	0.0026	-25	c.940 others(42): Show c.940+5902_940+5926delAAAATAAAATAAAATAAAATAAAAT		EGF	ENSG00000138798.13	transcript	ENST00000265171.10	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
EGLN1_chr1_231358756_231427287	231359085	TATATATA others(18): Show TATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0065 a0002c0002t0013g0065	1	338	0.0030	-25	c.73 others(36): Show c.7301_*7325delTATATATATATATATATATATATAT		EGLN1	ENSG00000135766.9	transcript	ENST00000366641.4	protein_coding					4670		chr1	TogoVar
EHBP1_chr2_62700713_63051487	62870487	GGTGGATC others(18): Show GGTGGATCACCTGAGGTCAGGAGTTT	G G	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02809.hp2 HG01167.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0118 a0001c0004t0001g0121 a0001c0004t0001g0118 a0001c0004t0001g0121	2	198	0.0101	-25	c.999 others(42): Show c.999-3857_999-3833delTGGATCACCTGAGGTCAGGAGTTTG		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	9/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHBP1_chr2_62700713_63051487	63043920	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0176 a0001c0001t0002g0176	1	198	0.0051	-25	c.327 others(44): Show c.3278-1119_3278-1095delTTTTTTTTTTTTTTTTTTTTTTTTT		EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	21/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EHMT1_chr9_137614005_137841127	137841098	CCCCGTAT others(18): Show CCCCGTATCGTCCACGCCACCTTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01257.hp1 HG01516.hp1 others(5): Show HG00099.hp1 HG01257.hp1 HG01516.hp1 HG01981.hp1 HG02145.hp2 HG02273.hp2 HG02735.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0131 others(5): Show a0001c0001t0001g0076 a0001c0001t0001g0089 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136	8	170	0.0471	-25	c.61 others(36): Show c.6146_*6170delCCCGTATCGTCCACGCCACCTTCCG		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding					4972		chr9	TogoVar
EIF2AK2_chr2_37094210_37161980	37161227	AAAAAAAA others(18): Show AAAAAAAAAAAGAAAGAAAGAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02976.hp2 HG02970.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0034 a0001c0001t0035	a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0001t0034g0018 a0001c0001t0035g0019	2	326	0.0061	-25	c.-45 others(36): Show c.-4528_-4504delCTTTCTCTTTCTTTCTTTTTTTTTT		EIF2AK2	ENSG00000055332.19	transcript	ENST00000233057.9	protein_coding					4248		chr2	TogoVar
EIF2B3_chr1_44845522_44991595	44977948	ATGCACTG others(18): Show ATGCACTGGGGGCCAGGCGTGATGGC	A A	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0167 a0001c0002t0001g0167	1	322	0.0031	-25	c.294 others(40): Show c.294+342_294+366delGCCATCACGCCTGGCCCCCAGTGCA		EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	3/11						chr1	TogoVar
EIF3CL_chr16_28374715_28408841	28386767	CACACACA others(18): Show CACACACACACACACCCCTAAAAGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02258.hp2 others(4): Show HG02109.hp1 HG02257.hp2 HG02258.hp2 HG02630.hp1 HG02647.hp2 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 others(4): Show a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125	7	172	0.0407	-25	c.182 others(44): Show c.1821+1266_1821+1290delATCTTTTAGGGGTGTGTGTGTGTGT		EIF3CL	ENSG00000205609.13	transcript	ENST00000380876.5	protein_coding	15/20						chr16	TogoVar
EIF3J_chr15_44532147_44567803	44559928	TTTTCAAG others(18): Show TTTTCAAGAGACAGGGTCTAGCTGTG	T T	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0023 a0002c0002t0013g0023	1	292	0.0034	-25	c.572 others(40): Show c.572-318_572-294delTCAAGAGACAGGGTCTAGCTGTGTT		EIF3J	ENSG00000104131.13	transcript	ENST00000261868.10	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF4A2_chr3_186778577_186794897	186787017	CAAAGGGC others(18): Show CAAAGGGCTGGGATTACAGGCATTAG	C C	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02280.hp1 HG02698.hp2 others(20): Show HG02155.hp2 HG02280.hp1 HG02698.hp2 HG02738.hp1 HG03704.hp2 NA18612.hp2 NA18940.hp2 NA18953.hp2 NA18959.hp2 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18975.hp1 NA18981.hp1 NA18987.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA19005.hp2 NA19064.hp1 NA19065.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0009 a0001c0003t0001g0009 a0001c0002t0001g0009 a0001c0003t0001g0009	23	456	0.0504	-25	c.772 others(39): Show c.772-109_772-85delAAAGGGCTGGGATTACAGGCATTAG		EIF4A2	ENSG00000156976.17	transcript	ENST00000323963.10	protein_coding	7/10						chr3	TogoVar
EIF4H_chr7_74169356_74202096	74186788	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01109.hp2 others(17): Show HG00642.hp2 HG00738.hp1 HG01109.hp2 HG01261.hp1 HG01993.hp1 HG02027.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02523.hp1 HG02559.hp1 HG02717.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp2 NA18963.hp2 NA18964.hp1 NA18967.hp1 NA18979.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0033 others(12): Show a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0033 a0001c0001t0001g0052 a0001c0001t0001g0101 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0159 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0210 a0001c0001t0001g0275	20	374	0.0535	-25	c.60- others(38): Show c.60-795_60-771delTTTTTTTTTTTTTTTTTTTTTTTTT		EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3349693	TGAGATGG others(18): Show TGAGATGGGGACAGGGAGCATGCTGG	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	250	0.0040	-25	c.126 others(42): Show c.126+4832_126+4856delCCAGCATGCTCCCTGTCCCCATCTC		EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	2/8						chr2	TogoVar
ELAC2_chr17_12986612_13023027	13019063	TTAAAGCC others(18): Show TTAAAGCCGCTAGAAATACAGGGAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0083 a0002c0002t0006g0083	1	400	0.0025	-25	c.-11 others(36): Show c.-1141_-1117delGCTCCCTGTATTTCTAGCGGCTTTA		ELAC2	ENSG00000006744.19	transcript	ENST00000338034.9	protein_coding					1037		chr17	TogoVar
ELAVL2_chr9_23685104_23831240	23779979	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01978.hp1 HG02055.hp1 others(23): Show HG01123.hp2 HG01978.hp1 HG02055.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG03041.hp1 HG03139.hp1 HG03225.hp2 HG03540.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG06807.hp1 NA18953.hp1 NA18955.hp1 NA18979.hp2 NA18980.hp2 NA19005.hp2 NA19056.hp1 NA19065.hp1 NA19077.hp1 NA19082.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0013 a0001c0001t0023 a0001c0002t0002	a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0001g0140 others(23): Show a0001c0001t0001g0053 a0001c0001t0001g0109 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0198 a0001c0001t0001g0211 a0001c0001t0001g0218 a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0280 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0002g0009 a0001c0001t0005g0228 a0001c0001t0013g0001 a0001c0001t0023g0352 a0001c0002t0002g0004 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0031 a0001c0002t0002g0037 a0001c0002t0002g0039 a0001c0002t0002g0043	26	352	0.0739	-25	c.-15 others(44): Show c.-15-17755_-15-17731delTTTTTTTTTTTTTTTTTTTTTTTTT		ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	1/6						chr9	TogoVar
ELK4_chr1_205602943_205637011	205627525	AGAAAATA others(18): Show AGAAAATATTATAAACTTAGATTGTG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0234 a0001c0002t0070g0234	1	424	0.0024	-25	c.-9- others(40): Show c.-9-3659_-9-3635delCACAATCTAAGTTTATAATATTTTC		ELK4	ENSG00000158711.14	transcript	ENST00000357992.9	protein_coding	1/4						chr1	TogoVar
ELL_chr19_18437663_18527070	18491249	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	244	0.0041	-25	c.136 others(44): Show c.136-18392_136-18368delAAAAAAAAAAAAAAAAAAAAAAAAA		ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	1/11						chr19	TogoVar
ELMO1_chr7_36847906_37453864	37256724	GGGGAAGG others(18): Show GGGGAAGGGAAGGGAAGGGAAGGGAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02630.hp2 HG02895.hp1 others(4): Show HG01934.hp1 HG02630.hp2 HG02895.hp1 HG02922.hp1 HG02965.hp2 HG03130.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 others(3): Show a0001c0001t0001 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0004t0002 a0001c0006t0004	a0001c0001t0001g0029 a0001c0002t0003g0013 a0001c0002t0005g0031 others(4): Show a0001c0001t0001g0029 a0001c0002t0003g0013 a0001c0002t0005g0031 a0001c0002t0006g0014 a0001c0004t0002g0003 a0001c0004t0002g0086 a0001c0006t0004g0058	7	92	0.0761	-25	c.413 others(42): Show c.413+2432_413+2456delTTCCCTTCCCTTCCCTTCCCTTCCC		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	6/21						chr7	TogoVar
ELMO1_chr7_36847906_37453864	37291949	CCCACGGT others(18): Show CCCACGGTCTCCCTCTCCCTCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp1 HG02717.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0007 a0001c0001t0005g0075 a0001c0001t0004g0007 a0001c0001t0005g0075	2	92	0.0217	-25	c.193 others(44): Show c.193-20092_193-20068delAAAGAGAGGGAGAGGGAGACCGTGG		ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	4/21						chr7	TogoVar
ELOVL5_chr6_53262404_53353950	53319270	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(103): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02273.hp1 HG02300.hp2 HG02451.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03195.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03942.hp1 NA18612.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp1 NA18954.hp1 NA18959.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp2 NA19007.hp1 NA19010.hp2 NA19012.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19077.hp1 NA19082.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0002c0003t0004	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0199 others(98): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0004g0258 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0010g0012 a0001c0001t0013g0235 a0001c0001t0016g0285 a0002c0003t0004g0267	106	320	0.3313	-25	c.-8- others(42): Show c.-8-23588_-8-23564delTTTTTTTTTTTTTTTTTTTTTTTTT		ELOVL5	ENSG00000012660.14	transcript	ENST00000304434.11	protein_coding	1/7						chr6	TogoVar
ELOVL7_chr5_60746791_60849269	60815551	TTTTATAA others(18): Show TTTTATAAATAAATAAAATTTATTTA	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0244 a0001c0001t0012g0244	1	258	0.0039	-25	c.-85 others(44): Show c.-85-16346_-85-16322delTAAATAAATTTTATTTATTTATAAA		ELOVL7	ENSG00000164181.14	transcript	ENST00000508821.6	protein_coding	1/8						chr5	TogoVar
ELP1_chr9_108862517_108939124	108869875	CTGTACAT others(18): Show CTGTACATATGAGCCATGCAGGCATG	C C	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0023 a0023	a0023c0037 a0023c0037	a0023c0037t0001 a0023c0037t0001	a0023c0037t0001g0037 a0023c0037t0001g0037	1	416	0.0024	-25	c.393 others(42): Show c.3932-718_3932-694delCATGCCTGCATGGCTCATATGTACA		ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	36/36						chr9	TogoVar
ELSPBP1_chr19_47989632_48030154	48003886	CTTCTATT others(18): Show CTTCTATTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01123.hp1 others(25): Show HG00738.hp2 HG01069.hp2 HG01123.hp1 HG01261.hp1 HG01928.hp1 HG01975.hp1 HG01993.hp2 HG02148.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02630.hp2 HG02895.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03486.hp2 HG06807.hp1 NA18906.hp2 NA18948.hp2 NA18974.hp2 NA18977.hp1 NA18992.hp2 NA19043.hp2 NA19056.hp1 NA19068.hp2 NA19085.hp1 NA19090.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0014	a0001c0001 a0001c0022 a0002c0002 others(5): Show a0001c0001 a0001c0022 a0002c0002 a0003c0003 a0003c0007 a0004c0004 a0005c0005 a0014c0017	a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0022t0001 a0002c0002t0001 a0003c0003t0001 a0003c0007t0001 a0004c0004t0001 a0005c0005t0004 a0014c0017t0003	a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0086 others(25): Show a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0102 a0001c0001t0001g0275 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0381 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0022t0001g0097 a0002c0002t0001g0091 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0087 a0003c0003t0001g0339 a0003c0007t0001g0378 a0003c0007t0001g0379 a0003c0007t0001g0380 a0004c0004t0001g0064 a0004c0004t0001g0304 a0005c0005t0004g0135 a0014c0017t0003g0026	28	388	0.0722	-25	c.-17 others(42): Show c.-17-4715_-17-4691delATTCTATTCTATTCTATTCTATTCT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48016506	TTCTTTCT others(18): Show TTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0013 a0013	a0013c0018 a0013c0018	a0013c0018t0002 a0013c0018t0002	a0013c0018t0002g0180 a0013c0018t0002g0180	1	388	0.0026	-25	c.355 others(40): Show c.355+468_355+492delTCTTTCTTTCTTTCTTTCTTTCTTC		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	4/6						chr19	TogoVar
EMCN_chr4_100390341_100523022	100473812	CGAAAATT others(18): Show CGAAAATTAAAAAATCCTCGTTTTGA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01361.hp1 HG00741.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0027 a0001c0001t0013 a0001c0001t0027	a0001c0001t0013g0246 a0001c0001t0027g0247 a0001c0001t0013g0246 a0001c0001t0027g0247	2	262	0.0076	-25	c.259 others(42): Show c.259+1201_259+1225delTCAAAACGAGGATTTTTTAATTTTC		EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	3/11						chr4	TogoVar
EML5_chr14_88607431_88797953	88607880	CCATCCCC others(18): Show CCATCCCCATCTCACCCTGCAAGTAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA18971.hp2 NA19084.hp2 HG02976.hp2 NA18971.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010	a0001c0001t0002g0137 a0001c0001t0005g0176 a0001c0001t0010g0035 a0001c0001t0002g0137 a0001c0001t0005g0176 a0001c0001t0010g0035	3	332	0.0090	-25	c.79 others(36): Show c.7913_*7937delATACTTGCAGGGTGAGATGGGGATG		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					4550		chr14	TogoVar
EML5_chr14_88607431_88797953	88610957	GTTTTTCT others(18): Show GTTTTTCTCATGTCAGTTCAAATTCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0188 a0001c0001t0006g0188	1	332	0.0030	-25	c.48 others(36): Show c.4836_*4860delAGAATTTGAACTGACATGAGAAAAA		EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding					1473		chr14	TogoVar
ENAH_chr1_225481829_225658123	225514620	TCCGGCAA others(18): Show TCCGGCAATTGCAGCTGCAAGTCCAG	T T	frameshift_variant frameshift_variant	HIGH	HG01243.hp1 HG01243.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0004 a0006c0009t0004	a0006c0009t0004g0283 a0006c0009t0004g0283	1	308	0.0033	-25	c.116 others(34): Show c.1169_1193delCTGGACTTGCAGCTGCAATTGCCGG	p.Thr others(5): Show p.Thr390fs	ENAH	ENSG00000154380.19	transcript	ENST00000366843.7	protein_coding	7/14	1626/13092	1169/1713	390/570			chr1	TogoVar
ENDOV_chr17_80410167_80443086	80432987	AAGCCAGT others(18): Show AAGCCAGTAGGACCCTTGGGAGGCTC	A A	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0152 a0001c0001t0020g0152	1	420	0.0024	-25	c.839 others(42): Show c.839-3142_839-3118delCAGTAGGACCCTTGGGAGGCTCAGC		ENDOV	ENSG00000173818.17	transcript	ENST00000518137.6	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr17	TogoVar
ENOSF1_chr18_665318_717630	667220	GTGATGGT others(18): Show GTGATGGTGATGGAGATGGAGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0154 a0001c0001t0006g0154	1	418	0.0024	-25	c.70 others(36): Show c.7060_*7084delACCATCTCCATCTCCATCACCATCA		ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding					3097		chr18	TogoVar

Search by Variant

Search

Search Results (Total: 4527 hits)