Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
DLGAP2_chr8_732628_1713476	1642303	CCCTCGAC others(85): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCC TCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0001 a0002c0007 a0001c0010 a0002c0001 a0002c0007	a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 others(1): Show a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 a0002c0007t0008	a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 others(1): Show a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0007t0008g0040	4	40	0.1000	-92	c.181 others(111): Show c.1810+9260_1810+9351delTCGACCCCGCCGGCCCTCACCTGTGT CACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGC CCTCACCTGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642520	CCCTCGAC others(85): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTCGACCCCGCCGGTCC TCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp2 HG03516.hp2 HG02258.hp1 HG02258.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0001 a0001c0003t0006 a0002c0001t0005 a0001c0003t0001 a0001c0003t0006 a0002c0001t0005	a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0005g0028 a0001c0003t0001g0026 a0001c0003t0006g0033 a0002c0001t0005g0028	3	40	0.0750	-92	c.181 others(111): Show c.1810+9477_1810+9568delTCGACCCCGCCGGCCCTCACCTGTGT CACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGT CCTCACCTGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1643172	CCCTCGAC others(85): Show CCCTCGACCCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCGGCCC TCACCTGTGTCACCCTGGAACCCGCCAGCCCTCACCTGTGTCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02895.hp2 HG02922.hp2 others(1): Show HG00639.hp2 HG02895.hp2 HG02922.hp2 HG02976.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0001 a0002c0007 a0001c0010 a0002c0001 a0002c0007	a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 others(1): Show a0001c0010t0025 a0002c0001t0002 a0002c0001t0019 a0002c0007t0008	a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 others(1): Show a0001c0010t0025g0012 a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0007t0008g0040	4	40	0.1000	-92	c.181 others(113): Show c.1810+10129_1810+10220delTCGACCCCGCCGGCCCTCACCTGT GTCACCCTGGAACCCGCCGGCCCTCACCTGTGTCACCCTGGAACCCGCCA GCCCTCACCTGTGTCACC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DMD_chrX_31114222_33216549	33009084	GTATATAT others(85): Show GTATATATACGTATATATGTATATATATGTGTATATATACGTATATATGT ATATATATGTGTATATATACGTATATATGTATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02015.hp1 HG02071.hp1 others(2): Show HG00738.hp1 HG02015.hp1 HG02071.hp1 HG03195.hp2 NA18994.hp1	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0002 a0002c0009 a0008c0010 a0001c0002 a0002c0009 a0008c0010	a0001c0002t0001 a0002c0009t0010 a0008c0010t0001 a0001c0002t0001 a0002c0009t0010 a0008c0010t0001	a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 others(2): Show a0001c0002t0001g0088 a0001c0002t0001g0104 a0001c0002t0001g0105 a0002c0009t0010g0023 a0008c0010t0001g0042	5	126	0.0397	-92	c.93+ others(109): Show c.93+10963_93+11054delTACACATATATATACATATATACGTATA TATACACATATATATACATATATACGTATATATACACATATATATACATA TATACGTATATATA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DNAH9_chr17_11593470_11974748	11694632	TGCTTTCT others(85): Show TGCTTTCTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCG CTTTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03041.hp2 HG02486.hp1 HG03041.hp2	a0033 a0034 a0033 a0034	a0033c0064 a0034c0091 a0033c0064 a0034c0091	a0033c0064t0001 a0034c0091t0001 a0033c0064t0001 a0034c0091t0001	a0033c0064t0001g0060 a0034c0091t0001g0150 a0033c0064t0001g0060 a0034c0091t0001g0150	2	178	0.0112	-92	c.487 others(109): Show c.4872+186_4872+277delGCTTTCTTGCTTTCTCGCTTTCTCGCTT TCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCTCTCTC TCTCTCTCTCTCTC	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68			chr17	TogoVar
DNAH9_chr17_11593470_11974748	11694633	GCTTTCTT others(85): Show GCTTTCTTGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCGC TTTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCTCTCTCTCT	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0001 a0002c0015t0001	a0002c0015t0001g0149 a0002c0015t0001g0149	1	178	0.0056	-92	c.487 others(109): Show c.4872+193_4872+284delTGCTTTCTCGCTTTCTCGCTTTCTCGCT TTCTCGCTTTCTCGCTTTCTCGCTTTCTCGCTTTCTCTCTCTCTCTCTCT CTCTCTCTCTTTCT	DNAH9	ENSG00000007174.18	transcript	ENST00000262442.9	protein_coding	22/68		INFO_REALIGN_3_PRIME	chr17	TogoVar
DOCK8_chr9_209865_470255	403902	ATATATAT others(85): Show ATATATATATATATACATATATATATATGTGTATATATATATGTGTATAT ATATATATGTATATATATATATATGTGTATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 NA19043.hp2 HG02615.hp1 NA19043.hp2	a0004 a0047 a0004 a0047	a0004c0039 a0047c0146 a0004c0039 a0047c0146	a0004c0039t0004 a0047c0146t0001 a0004c0039t0004 a0047c0146t0001	a0004c0039t0004g0056 a0047c0146t0001g0013 a0004c0039t0004g0056 a0047c0146t0001g0013	2	256	0.0078	-92	c.323 others(110): Show c.3235-1001_3235-910delCATATATATATATGTGTATATATATAT GTGTATATATATATATGTATATATATATATATGTGTATATATATATATGT GTATATATATATATA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DPH7_chr9_137549444_137583925	137565600	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02055.hp2 HG03704.hp2 HG02015.hp1 HG02055.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0133 a0001c0001t0001g0225 a0001c0001t0001g0090 a0001c0001t0001g0133 a0001c0001t0001g0225	3	340	0.0088	-92	c.641 others(107): Show c.641-538_641-447delAGTCATCCAGGGGAGCTTCCTCACAGACAG AGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137565630	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02970.hp1 HG02257.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0252 a0001c0001t0009g0253 a0001c0001t0002g0252 a0001c0001t0009g0253	2	340	0.0059	-92	c.641 others(107): Show c.641-568_641-477delAGTCACCCAGGGGAGCTTCCTCACAGACAG AGTCATCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTTCC TCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566277	CTCTGTCT others(85): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	340	0.0029	-92	c.641 others(109): Show c.641-1215_641-1124delCAGAGTCACCCAGGGGAGCTTCCTCACA GACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCT TCCTCACAGACAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566365	CTCTGTCT others(85): Show CTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTGTCTGTGAGGAAGCTCCC CTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 NA18955.hp2 NA19000.hp1 others(1): Show HG01081.hp2 NA18955.hp2 NA19000.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0015 a0001c0001t0001g0099 a0001c0001t0001g0138 a0001c0001t0001g0190	4	340	0.0118	-92	c.641 others(109): Show c.641-1303_641-1212delCAGAGTCACCCAGGGGAGCTTCCTCACA GACAGAGTCACCCAGGGGAGCTTCCTCACAGACAGTCACCCAGGGGAGCT TCCTCACAGACAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566512	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0031 a0005c0007t0001g0031	1	340	0.0029	-92	c.641 others(109): Show c.641-1450_641-1359delAGTCATCCAGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566542	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	340	0.0029	-92	c.641 others(109): Show c.641-1480_641-1389delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCATCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566632	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGGTGACTCTGTCTGTGAGGAAGCTCCCCTGGATGACT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	340	0.0029	-92	c.641 others(109): Show c.641-1570_641-1479delAGTCATCCAGGGGAGCTTCCTCACAGAC AGAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137566662	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTGTCTGTGAGGAAGCT CCCCTGGATGACTCTGTCTGTGAGGAAGCTCCCCTGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0145 a0001c0001t0001g0146	2	340	0.0059	-92	c.641 others(109): Show c.641-1600_641-1509delAGTCACCCAGGGGAGCTTCCTCACAGAC AGAGTCATCCAGGGGAGCTTCCTCACAGACAGAGTCACCCAGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567019	CTCTGTCT others(85): Show CTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCTC CCCTGGGTGACTGTCTGTGAGGAAGCTCCCCTGGGTGACTCTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	340	0.0029	-92	c.641 others(109): Show c.641-1957_641-1866delCAGAGTCACCCAGGGGAGCTTCCTCACA GACAGTCACCCAGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCT TCCTCACAGACAGA	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567844	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	340	0.0029	-92	c.641 others(109): Show c.641-2782_641-2691delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPH7_chr9_137549444_137583925	137567874	ACTCTGTC others(85): Show ACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACTCTGTCTGTGAGGAAGCT CCCCGGGGTGACTCTGTCTGTGAGGAAGCTCCCCGGGGTGACT	A A	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	340	0.0029	-92	c.641 others(109): Show c.641-2812_641-2721delAGTCACCCCGGGGAGCTTCCTCACAGAC AGAGTCACCCCGGGGAGCTTCCTCACAGACAGAGTCACCCCGGGGAGCTT CCTCACAGACAGAG	DPH7	ENSG00000148399.13	transcript	ENST00000277540.7	protein_coding	5/8			chr9	TogoVar
DPP9_chr19_4670227_4728842	4672284	CATATATA others(85): Show CATATATATATACTTATATTCATATATTCATATATATACTTATATTCATA TATTCATATATATACTTATATTCATATATTCATATATATACTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02630.hp1 HG02723.hp2 others(4): Show HG02145.hp2 HG02630.hp1 HG02723.hp2 HG03098.hp2 HG03225.hp1 HG03579.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0249 others(4): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0249 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0147 a0001c0001t0003g0148	7	314	0.0223	-92	c.41 others(103): Show c.4188_*4279delAAGTATATATATGAATATATGAATATAAGTATAT ATATGAATATATGAATATAAGTATATATATGAATATATGAATATAAGTAT ATATATAT	DPP9	ENSG00000142002.19	transcript	ENST00000262960.14	protein_coding		2942		chr19	TogoVar
DPY19L2_chr12_63553913_63673493	63556391	TATACATA others(85): Show TATACATATATACACGTGTATACATATGTATATACATATATACACGTGTA TATATGTATACATGTATATACATACATATATACACGTGTATAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01081.hp1 HG01081.hp2 others(48): Show HG00738.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp1 HG01884.hp2 HG02055.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03491.hp1 HG03540.hp1 HG03831.hp1 HG03834.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp2 NA19060.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0009 others(1): Show a0001 a0002 a0009 a0011	a0001c0006 a0001c0007 a0002c0002 others(2): Show a0001c0006 a0001c0007 a0002c0002 a0009c0014 a0011c0017	a0001c0006t0003 a0001c0006t0010 a0001c0007t0003 others(5): Show a0001c0006t0003 a0001c0006t0010 a0001c0007t0003 a0002c0002t0003 a0002c0002t0004 a0002c0002t0015 a0009c0014t0004 a0011c0017t0003	a0001c0006t0003g0009 a0001c0006t0003g0207 a0001c0006t0003g0245 others(46): Show a0001c0006t0003g0009 a0001c0006t0003g0207 a0001c0006t0003g0245 a0001c0006t0003g0278 a0001c0006t0003g0279 a0001c0006t0003g0280 a0001c0006t0003g0281 a0001c0006t0003g0282 a0001c0006t0003g0283 a0001c0006t0003g0284 a0001c0006t0003g0285 a0001c0006t0003g0287 a0001c0006t0003g0306 a0001c0006t0003g0307 a0001c0006t0003g0308 a0001c0006t0003g0309 a0001c0006t0010g0286 a0001c0007t0003g0312 a0001c0007t0003g0313 a0001c0007t0003g0314 a0001c0007t0003g0315 a0001c0007t0003g0316 a0001c0007t0003g0317 a0001c0007t0003g0318 a0001c0007t0003g0347 a0002c0002t0003g0089 a0002c0002t0003g0157 a0002c0002t0003g0158 a0002c0002t0004g0003 a0002c0002t0004g0016 a0002c0002t0004g0017 a0002c0002t0004g0018 a0002c0002t0004g0019 a0002c0002t0004g0020 a0002c0002t0004g0021 a0002c0002t0004g0022 a0002c0002t0004g0023 a0002c0002t0004g0024 a0002c0002t0004g0025 a0002c0002t0004g0026 a0002c0002t0004g0027 a0002c0002t0004g0109 a0002c0002t0004g0166 a0002c0002t0004g0167 a0002c0002t0004g0178 a0002c0002t0004g0180 a0002c0002t0015g0108 a0009c0014t0004g0186 a0011c0017t0003g0349	51	362	0.1409	-92	c.40 others(103): Show c.4029_*4120delGTATACACGTGTATATATGTATGTATATACATGT ATACATATATACACGTGTATATATGTATATACATATGTATACACGTGTAT ATATGTAT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding		2521		chr12	TogoVar
EEIG1_chr9_127935582_127985989	127961761	CGAGTGGC others(85): Show CGAGTGGCCACAGATATCTGGGGGAAGAGCAATCCGGGCACGAGGAACAG CAAGTGCAAAGGCCCCGGGGTGGGAATGTCTGTCGCGTTTGAG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp2 HG01975.hp1 others(29): Show HG00558.hp2 HG00621.hp2 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02523.hp1 HG03490.hp1 HG03492.hp1 NA18945.hp1 NA18950.hp1 NA18957.hp1 NA18963.hp1 NA18965.hp1 NA18969.hp1 NA18980.hp2 NA18992.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19003.hp2 NA19010.hp1 NA19011.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp2 NA19083.hp1 NA19085.hp2 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0027 a0001c0002t0031 a0001c0002t0003 a0001c0002t0027 a0001c0002t0031	a0001c0002t0003g0014 a0001c0002t0003g0028 a0001c0002t0003g0108 others(26): Show a0001c0002t0003g0014 a0001c0002t0003g0028 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0120 a0001c0002t0003g0121 a0001c0002t0003g0122 a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0128 a0001c0002t0003g0129 a0001c0002t0003g0130 a0001c0002t0003g0132 a0001c0002t0003g0133 a0001c0002t0003g0134 a0001c0002t0003g0135 a0001c0002t0003g0136 a0001c0002t0003g0137 a0001c0002t0003g0138 a0001c0002t0003g0139 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0161 a0001c0002t0003g0237 a0001c0002t0027g0131 a0001c0002t0031g0238	32	342	0.0936	-92	c.147 others(109): Show c.147-7928_147-7837delCTCAAACGCGACAGACATTCCCACCCCG GGGCCTTTGCACTTGCTGTTCCTCGTGCCCGGATTGCTCTTCCCCCAGAT ATCTGTGGCCACTC	EEIG1	ENSG00000167106.12	transcript	ENST00000373095.6	protein_coding	1/10			chr9	TogoVar
EIPR1_chr2_3183970_3382818	3305043	CTCCCGTC others(85): Show CTCCCGTCCAGTTCAACCCTCCACTCCCGTCCAGTTCAACCCTCCACTCC CAACCAGTTCAGCCCTCCACTCCCGTCCAGTTCAGCCCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp1 HG03209.hp2 others(1): Show HG02615.hp1 HG02717.hp1 HG03209.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	4	250	0.0160	-92	c.259 others(111): Show c.259+32882_259+32973delCTGGAGGGCTGAACTGGACGGGAGTG GAGGGCTGAACTGGTTGGGAGTGGAGGGTTGAACTGGACGGGAGTGGAGG GTTGAACTGGACGGGA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELFN1_chr7_1665277_1752946	1702446	ACCCTCCC others(85): Show ACCCTCCCTCACTCCACCTTGTTCTTTTTATTTAGTGACATTCTTGGCCT TTTTTTCTTCCATATACATTTTAGAATTAGTTTGTCAAGTTCC	A A	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03098.hp2 HG03225.hp2 others(3): Show HG02280.hp2 HG03098.hp2 HG03225.hp2 HG03516.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0003 a0001c0001 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0001t0055 a0001c0005t0010 others(1): Show a0001c0001t0001 a0001c0001t0055 a0001c0005t0010 a0002c0003t0024	a0001c0001t0001g0145 a0001c0001t0001g0298 a0001c0001t0055g0297 others(3): Show a0001c0001t0001g0145 a0001c0001t0001g0298 a0001c0001t0055g0297 a0001c0005t0010g0143 a0001c0005t0010g0146 a0002c0003t0024g0144	6	302	0.0199	-92	c.-45 others(111): Show c.-455-6644_-455-6553delCCCTCCCTCACTCCACCTTGTTCTTT TTATTTAGTGACATTCTTGGCCTTTTTTTCTTCCATATACATTTTAGAAT TAGTTTGTCAAGTTCC	ELFN1	ENSG00000225968.8	transcript	ENST00000424383.5	protein_coding	2/3			chr7	TogoVar
ELK1_chrX_47630521_47655563	47648050	AACAAAAT others(85): Show AACAAAATCAAATCACTCTTAGAAACATCTTTTACGCCTGTGCCTTTAAG AGAGTGTATTACACACACCACAGTGGTTGTTTTTTGGGTTTTT	A A	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	276	0.0036	-92	c.-35 others(109): Show c.-35+1779_-35+1870delAAAAACCCAAAAAACAACCACTGTGGTG TGTGTAATACACTCTCTTAAAGGCACAGGCGTAAAAGATGTTTCTAAGAG TGATTTGATTTTGT	ELK1	ENSG00000126767.18	transcript	ENST00000376983.8	protein_coding	2/6			chrX	TogoVar
EMC8_chr16_85773624_85804544	85791903	AATCCCTT others(85): Show AATCCCTTTTGCTACATAAGGCCTGGGGATTAGGATGTGGACATATTTGG GGGGTTATTACTCAGCTGACCATACCATACAACATTTTCTAGG	A A	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	408	0.0025	-92	c.232 others(109): Show c.232-2945_232-2854delCCTAGAAAATGTTGTATGGTATGGTCAG CTGAGTAATAACCCCCCAAATATGTCCACATCCTAATCCCCAGGCCTTAT GTAGCAAAAGGGAT	EMC8	ENSG00000131148.9	transcript	ENST00000253457.8	protein_coding	1/4			chr16	TogoVar
ENOSF1_chr18_665318_717630	667280	GGATGGTG others(85): Show GGATGGTGATGGAGATGGTGATGGTGATGGTGATGGAGATGGTGATGGTG ATGGAGATGGTGATGGAGATGGTGATGGTGATGGAGATGGTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0002 a0003c0007t0002	a0003c0007t0002g0379 a0003c0007t0002g0379	1	418	0.0024	-92	c.69 others(103): Show c.6933_*7024delTCACCATCTCCATCACCATCACCATCTCCATCAC CATCTCCATCACCATCACCATCTCCATCACCATCACCATCACCATCTCCA TCACCATC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3037		chr18	TogoVar
ENTPD8_chr9_137429364_137446357	137440412	CCCCCCAG others(85): Show CCCCCCAGACCAGGACAGCCCCCCAGACCAGGACAGCCCCCCCCCAGACC AGGAGAGCCCCCCAGGCCAGGACACCCCCTCAGACAGAACAGT	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0093	1	392	0.0026	-92	c.-21 others(107): Show c.-21+782_-21+873delACTGTTCTGTCTGAGGGGGTGTCCTGGCCT GGGGGGCTCTCCTGGTCTGGGGGGGGGCTGTCCTGGTCTGGGGGGCTGTC CTGGTCTGGGGG	ENTPD8	ENSG00000188833.10	transcript	ENST00000371506.7	protein_coding	1/9			chr9	TogoVar
ERBIN_chr5_65921575_66087546	66018475	ATATATTA others(85): Show ATATATTATATATTATATTATATAATATATATTATATATTATATAATATA TATTATATTATATAATATATATTATATATTATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp1 HG02896.hp1 others(1): Show HG02257.hp1 HG02647.hp1 HG02896.hp1 HG02976.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0007 a0005c0006t0002 a0005c0006t0007	a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 others(1): Show a0005c0006t0002g0229 a0005c0006t0002g0263 a0005c0006t0007g0026 a0005c0006t0007g0227	4	306	0.0131	-92	c.534 others(109): Show c.534-2835_534-2744delTTATATTATATAATATATATTATATATT ATATAATATATATTATATTATATAATATATATTATATATTATATAATATA TATTATATTATATA	ERBIN	ENSG00000112851.16	transcript	ENST00000284037.10	protein_coding	7/25		INFO_REALIGN_3_PRIME	chr5	TogoVar
ERC1_chr12_986223_1500931	1371573	CGGTACTG others(85): Show CGGTACTGATAATAGTAACTTCAAAGAATTGTTGGAAGGGGTGAATGATG CTGTTGGCGTTTGCTTTCTTGGTTTTATTACCCTCAAAATGGG	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01496.hp2 HG01891.hp1 others(6): Show HG01109.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp2 HG02922.hp2 HG03195.hp2 HG03209.hp2 NA19240.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0008 a0001c0001 a0002c0002 a0009c0008	a0001c0001t0005 a0001c0001t0074 a0002c0002t0036 others(6): Show a0001c0001t0005 a0001c0001t0074 a0002c0002t0036 a0002c0002t0048 a0002c0002t0065 a0002c0002t0080 a0002c0002t0084 a0002c0002t0127 a0009c0008t0041	a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0036g0158 others(6): Show a0001c0001t0005g0041 a0001c0001t0074g0039 a0002c0002t0036g0158 a0002c0002t0048g0070 a0002c0002t0065g0072 a0002c0002t0080g0127 a0002c0002t0084g0025 a0002c0002t0127g0155 a0009c0008t0041g0140	9	162	0.0556	-92	c.278 others(109): Show c.2781-213_2781-122delATGCTGTTGGCGTTTGCTTTCTTGGTTT TATTACCCTCAAAATGGGGGTACTGATAATAGTAACTTCAAAGAATTGTT GGAAGGGGTGAATG	ERC1	ENSG00000082805.21	transcript	ENST00000360905.9	protein_coding	15/18		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERGIC3_chr20_35537078_35562634	35539186	CATATATA others(85): Show CATATATAATATATATAACAGTTTATATATATATATAACAGTTTATATAT ATAATATATATAACAGTTTATATATATATATATAACAGTTTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01167.hp1 others(4): Show HG00099.hp2 HG00639.hp2 HG01167.hp1 HG01168.hp1 HG03017.hp1 HG03471.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0080 a0001c0002t0001g0123 others(2): Show a0001c0002t0001g0026 a0001c0002t0001g0080 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0179	7	364	0.0192	-92	c.-29 others(103): Show c.-2911_-2820delATATATAATATATATAACAGTTTATATATATATA TAACAGTTTATATATATAATATATATAACAGTTTATATATATATATATAA CAGTTTAT	ERGIC3	ENSG00000125991.21	transcript	ENST00000348547.7	protein_coding		2891		chr20	TogoVar
ERICH1_chr8_659200_736224	659281	CCATCCTG others(85): Show CCATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCAT CCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	378	0.0027	-92	c.52 others(103): Show c.5230_*5321delCTCAGTGCACACCGGAGATCTCGATGGTCACCCC CTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTCC CCAGGATG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4918		chr8	TogoVar
ERICH1_chr8_659200_736224	659573	GTGACCAT others(85): Show GTGACCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGGTGA CCATCGAGATCTCCGGTGTGCACTGAGCATCCTGGGGAGGGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0229 a0001c0003t0004g0229	1	378	0.0027	-92	c.49 others(103): Show c.4938_*5029delTCCCCTCCCCAGGATGCTCAGTGCACACCGGAGA TCTCGATGGTCACCCCCTCCCCAGGATGCTCAGTGCACACCGGAGATCTC GATGGTCA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4626		chr8	TogoVar
ERICH1_chr8_659200_736224	659788	CATCCTGG others(85): Show CATCCTGGGGAGGGGGTGACCATCGAGATCTCCGGTGTGCACTGACCATC CTGGGGAGGGGGTGACCATCGAGATCTCCAGTGTGCACTGAAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01175.hp2 HG01975.hp1 others(16): Show HG00609.hp1 HG01175.hp2 HG01975.hp1 HG01981.hp1 HG02818.hp1 HG03098.hp2 HG04204.hp2 NA18942.hp2 NA18945.hp1 NA18955.hp1 NA18964.hp2 NA18982.hp2 NA18983.hp2 NA18992.hp2 NA19030.hp2 NA19060.hp2 NA19068.hp1 NA19080.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0032 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0164 a0001c0001t0001g0182 a0001c0001t0001g0193 a0001c0001t0001g0203 a0001c0001t0001g0242	19	378	0.0503	-92	c.47 others(103): Show c.4723_*4814delATTCAGTGCACACTGGAGATCTCGATGGTCACCC CCTCCCCAGGATGGTCAGTGCACACCGGAGATCTCGATGGTCACCCCCTC CCCAGGAT	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding		4411		chr8	TogoVar
ETNPPL_chr4_108737053_108768053	108747164	TTATATAT others(85): Show TTATATATATATATATAATATATATATATATTATATATATATATAATATA TATATATATATTATATATATATATATAATATATATATATATTA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02723.hp1 HG02723.hp2 others(2): Show HG01175.hp1 HG02723.hp1 HG02723.hp2 HG03139.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0107 a0002c0002t0001g0304 a0002c0002t0001g0309	5	378	0.0132	-92	c.108 others(109): Show c.1083-405_1083-314delTAATATATATATATATTATATATATATA TATAATATATATATATATATTATATATATATATAATATATATATATATTA TATATATATATATA	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
ETS1_chr11_128453765_128592558	128584984	AAGAAAGG others(85): Show AAGAAAGGAAGGAAGGAAGGAAAGAAAGGAAAGAAAGAAGAAAGAAAGAA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02486.hp2 HG02897.hp2 others(12): Show HG02015.hp1 HG02486.hp2 HG02897.hp2 HG03195.hp2 HG03453.hp2 HG04204.hp1 NA18944.hp1 NA18944.hp2 NA18953.hp2 NA18970.hp2 NA18994.hp2 NA19001.hp2 NA19010.hp2 NA19043.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 others(5): Show a0001c0001t0001 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0003t0004	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0014g0025 others(12): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0014g0025 a0001c0001t0015g0043 a0001c0001t0015g0046 a0001c0001t0018g0044 a0001c0002t0002g0039 a0001c0002t0002g0188 a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0135 a0001c0002t0007g0004 a0001c0002t0007g0026 a0001c0003t0004g0065	15	286	0.0525	-92	c.-15 others(109): Show c.-15+2412_-15+2503delCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTCTTTCCTTTCTTTCCTTC CTTCCTTCCTTTCT	ETS1	ENSG00000134954.14	transcript	ENST00000392668.8	protein_coding	1/9			chr11	TogoVar
ETV6_chr12_11644674_11900377	11874544	ACACACAT others(85): Show ACACACATATATGTGTATGTGCGTGTGTACACATATATGTGTGTATACAC ATATATGTGTATGTGCGTGTGTACACACATATGTGTATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03041.hp1 HG03130.hp1 others(1): Show HG02809.hp2 HG03041.hp1 HG03130.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0026 others(1): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0026 a0001c0001t0111	a0001c0001t0004g0109 a0001c0001t0013g0084 a0001c0001t0026g0108 others(1): Show a0001c0001t0004g0109 a0001c0001t0013g0084 a0001c0001t0026g0108 a0001c0001t0111g0113	4	262	0.0153	-92	c.100 others(111): Show c.1009+4576_1009+4667delCACACATATATGTGTATGTGCGTGTG TACACATATATGTGTGTATACACATATATGTGTATGTGCGTGTGTACACA CATATGTGTATGTGTG	ETV6	ENSG00000139083.11	transcript	ENST00000396373.9	protein_coding	5/7			chr12	TogoVar
EXOC3_chr5_438176_472290	467420	CTGTCTGA others(85): Show CTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG01070.hp2 others(36): Show HG00558.hp2 HG00642.hp2 HG01070.hp2 HG01106.hp1 HG01123.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG02015.hp2 HG02132.hp1 HG02148.hp2 HG02280.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02886.hp2 HG03225.hp2 HG03471.hp2 HG03516.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp2 NA18957.hp2 NA18962.hp1 NA18965.hp2 NA18970.hp1 NA18985.hp1 NA18998.hp2 NA19060.hp2 NA19079.hp2 NA19081.hp1 NA20300.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0001t0041 a0001c0004t0002	a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0004 others(17): Show a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0004g0004 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0106 a0001c0001t0004g0111 a0001c0001t0004g0169 a0001c0001t0004g0171 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0016g0050 a0001c0001t0041g0176 a0001c0004t0002g0024 a0001c0004t0002g0025 a0001c0004t0002g0104	39	418	0.0933	-92	c.52 others(101): Show c.523_*614delTGTCTGACATCCCCTCAGCCTAGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCTTCCTGATC CCCTCA	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		131		chr5	TogoVar
EXOC3_chr5_438176_472290	467650	CTGTCTGA others(85): Show CTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCCCCTCCTGT CTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATCCCCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0093 a0001c0002t0019g0093	1	418	0.0024	-92	c.75 others(101): Show c.753_*844delTGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGATC CCCTCA	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		361		chr5	TogoVar
EXOC3_chr5_438176_472290	467734	ATCCCCTC others(85): Show ATCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCCTCCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01167.hp2 HG01169.hp2 others(5): Show HG01099.hp2 HG01167.hp2 HG01169.hp2 HG01257.hp2 HG01258.hp2 HG01981.hp1 HG01993.hp1 HG02273.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0008 a0001c0003t0002g0053 a0001c0003t0002g0008 a0001c0003t0002g0053	8	418	0.0191	-92	c.83 others(101): Show c.837_*928delTCCCCTCATGTCTGACATCCCCTCAGCCTGGATGGC GCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTAGAGGGTGCCC TCCTGG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		445		chr5	TogoVar
EXOC3_chr5_438176_472290	467918	GTCCCCTC others(85): Show GTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCC CCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp2 HG01515.hp1 HG00323.hp2 HG00741.hp2 HG01515.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0005 a0001c0002t0006g0005	3	418	0.0072	-92	c.10 others(103): Show c.1021_*1112delTCCCCTCGTATCTGACATCCCCTCAGCCTGGAGG GCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGC CCTCCTGA	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		629		chr5	TogoVar
EXOC3_chr5_438176_472290	467928	ATCTGACA others(85): Show ATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	1	418	0.0024	-92	c.10 others(103): Show c.1031_*1122delTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATC CCCTCCTG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		639		chr5	TogoVar
EXOC3_chr5_438176_472290	468066	ATCTGACA others(85): Show ATCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGGTCCCCTCCTGTCT GACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATCCCCTCCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG01978.hp2 HG01516.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0170 a0001c0001t0004g0174 a0001c0001t0004g0170 a0001c0001t0004g0174	2	418	0.0048	-92	c.11 others(103): Show c.1169_*1260delTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCT GGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAGGGCGCCCTCCTGATC CCCTCCTG	EXOC3	ENSG00000180104.16	transcript	ENST00000512944.6	protein_coding		777		chr5	TogoVar
EXOC6B_chr2_72170984_72831033	72401513	ATACATAT others(85): Show ATACATATATACATATATATATATATATATATGTGTATATATATATATAT ATACATATATATATATATACATATATATATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0101 a0001c0002t0005g0101	1	104	0.0096	-92	c.198 others(113): Show c.1981-21735_1981-21644delCACATATATATATATATATATATG TATATATATATATATGTATATATATATATATATACACATATATATATATA TATATATGTATATATGTA	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EYS_chr6_63714980_65712226	64304506	TTTTCCAG others(85): Show TTTTCCAGGATAGACTATATGTTAGGCCACAAATTAAATCTCAATAGATG GAAGGACATATGTCATATAAATTATCTTTTCTGATCACAATGG	T T	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG01169.hp2 HG02451.hp1 others(13): Show HG01169.hp1 HG01169.hp2 HG02451.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03195.hp2 HG03209.hp1	a0001 a0003 a0005 others(11): Show a0001 a0003 a0005 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0019 a0020 a0021	a0001c0009 a0001c0012 a0003c0002 others(13): Show a0001c0009 a0001c0012 a0003c0002 a0003c0019 a0005c0010 a0009c0006 a0010c0003 a0011c0001 a0012c0005 a0013c0020 a0014c0004 a0015c0011 a0017c0013 a0019c0023 a0020c0015 a0021c0024	a0001c0009t0001 a0001c0012t0002 a0003c0002t0002 others(13): Show a0001c0009t0001 a0001c0012t0002 a0003c0002t0002 a0003c0019t0001 a0005c0010t0001 a0009c0006t0001 a0010c0003t0001 a0011c0001t0001 a0012c0005t0001 a0013c0020t0002 a0014c0004t0002 a0015c0011t0002 a0017c0013t0001 a0019c0023t0001 a0020c0015t0002 a0021c0024t0001	a0001c0009t0001g0012 a0001c0012t0002g0021 a0003c0002t0002g0019 others(13): Show a0001c0009t0001g0012 a0001c0012t0002g0021 a0003c0002t0002g0019 a0003c0019t0001g0006 a0005c0010t0001g0015 a0009c0006t0001g0004 a0010c0003t0001g0016 a0011c0001t0001g0013 a0012c0005t0001g0014 a0013c0020t0002g0022 a0014c0004t0002g0024 a0015c0011t0002g0018 a0017c0013t0001g0017 a0019c0023t0001g0010 a0020c0015t0002g0023 a0021c0024t0001g0001	16	24	0.6667	-92	c.619 others(111): Show c.6191+2372_6191+2463delCCATTGTGATCAGAAAAGATAATTTA TATGACATATGTCCTTCCATCTATTGAGATTTAATTTGTGGCCTAACATA TAGTCTATCCTGGAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	65204918	CTTTATAT others(85): Show CTTTATATATTCTAGAAGAATATATTTATATATTCTAGAAGAATATATTT ATATATTCTAGAAGAATATATTTATATATTCTAGAAGAATATA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0005 a0016c0014t0001g0005	1	24	0.0417	-92	c.202 others(113): Show c.2023+90853_2023+90944delTATATTCTTCTAGAATATATAAAT ATATTCTTCTAGAATATATAAATATATTCTTCTAGAATATATAAATATAT TCTTCTAGAATATATAAA	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	12/42			chr6	TogoVar
EZR_chr6_158760748_158824368	158803544	TGTATATA others(85): Show TGTATATATATATATATATATATATATATATATATATACATATATATATA TATATATATATACATATATATATATATATATACATATACATAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp1 HG00735.hp2 others(7): Show HG00642.hp1 HG00735.hp1 HG00735.hp2 HG01993.hp2 HG03017.hp2 HG03195.hp1 HG03654.hp1 NA18522.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006	a0001c0001t0002g0177 a0001c0001t0002g0226 a0001c0001t0002g0238 others(7): Show a0001c0001t0002g0177 a0001c0001t0002g0226 a0001c0001t0002g0238 a0001c0001t0002g0248 a0001c0001t0002g0257 a0001c0001t0004g0273 a0001c0001t0004g0281 a0001c0001t0006g0233 a0001c0001t0006g0239 a0001c0001t0006g0240	10	312	0.0321	-92	c.13- others(109): Show c.13-14265_13-14174delGTATGTATATGTATATATATATATATAT ATGTATATATATATATATATATATATGTATATATATATATATATATATAT ATATATATATATAC	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAAH2_chrX_57281706_57494193	57352046	ATGTGTAT others(85): Show ATGTGTATATATATATATATACACATATATATATGTGTATATATATGCAC ATATATATATATGTGTATATATATGCACATATATATATATGTG	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	282	0.0036	-92	c.742 others(111): Show c.742+10658_742+10749delGTGTATATATATATATATACACATAT ATATATGTGTATATATATGCACATATATATATATGTGTATATATATGCAC ATATATATATATGTGT	FAAH2	ENSG00000165591.7	transcript	ENST00000374900.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
FAM174B_chr15_92612448_92660775	92631163	TATAATAA others(85): Show TATAATAATTTATATATTATATTATATATTATATATATTACATATATTAT ATATTATATTATATATAATATATTATATATTATATTATATATA	T T	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19006.hp2 NA19055.hp1 NA18947.hp1 NA19006.hp2 NA19055.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0011 a0001c0001 a0008c0011	a0001c0001t0002 a0001c0001t0057 a0008c0011t0025 a0001c0001t0002 a0001c0001t0057 a0008c0011t0025	a0001c0001t0002g0148 a0001c0001t0057g0200 a0008c0011t0025g0365 a0001c0001t0002g0148 a0001c0001t0057g0200 a0008c0011t0025g0365	3	394	0.0076	-92	c.345 others(107): Show c.345-910_345-819delTATATATAATATAATATATAATATATTATA TATAATATAATATATAATATATGTAATATATATAATATATAATATAATAT ATAAATTATTAT	FAM174B	ENSG00000185442.13	transcript	ENST00000327355.6	protein_coding	1/2			chr15	TogoVar
FAM210A_chr18_13658347_13731558	13675747	TGGCTTCT others(85): Show TGGCTTCTTTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGC TTCATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCA	T T	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01891.hp1 HG01934.hp2 others(7): Show HG01169.hp2 HG01891.hp1 HG01934.hp2 HG02559.hp1 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0014 a0001c0001t0026	a0001c0001t0001g0222 a0001c0001t0006g0026 a0001c0001t0006g0260 others(6): Show a0001c0001t0001g0222 a0001c0001t0006g0026 a0001c0001t0006g0260 a0001c0001t0006g0263 a0001c0001t0009g0042 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0014g0006 a0001c0001t0026g0029	10	326	0.0307	-92	c.474 others(109): Show c.474-3866_474-3775delTGGGCTCAGGAATGTTAATAATCAGGAA ACTGGAAATAATGAAGCCAGGGCTCAGGAATGTTAATAATCAGGAAACTG GAAATAAAGAAGCC	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar
FAM210A_chr18_13658347_13731558	13675800	ATTATTTC others(85): Show ATTATTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCAGGCTTCTTTA TTTCCAGTTTCCTGATTATTAACATTCCTGAGCCCTGGCTTCT	A A	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	326	0.0031	-92	c.474 others(109): Show c.474-3919_474-3828delAGAAGCCAGGGCTCAGGAATGTTAATAA TCAGGAAACTGGAAATAAAGAAGCCTGGGCTCAGGAATGTTAATAATCAG GAAACTGGAAATAA	FAM210A	ENSG00000177150.13	transcript	ENST00000651643.1	protein_coding	2/3			chr18	TogoVar

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Search Results (Total: 10000 hits)