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
DPP10_chr2_114437641_115850780	115317226	A A	AATCTACT others(14): Show AATCTACTTCTGTTCTCTGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 NA18906.hp1 others(1): Show HG00639.hp1 HG01243.hp1 NA18906.hp1 NA19043.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0005 a0001c0002 a0001c0004 a0004c0005	a0001c0002t0001 a0001c0004t0004 a0004c0005t0003 a0001c0002t0001 a0001c0004t0004 a0004c0005t0003	a0001c0002t0001g0041 a0001c0004t0004g0013 a0001c0004t0004g0021 others(1): Show a0001c0002t0001g0041 a0001c0004t0004g0013 a0001c0004t0004g0021 a0004c0005t0003g0007	4	56	0.0714	21	c.175 others(38): Show c.175+7882_175+7902dupCTGTTCTCTGAAGATCTACTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115334230	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03139.hp1 HG02145.hp2 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0004 a0001c0002t0001 a0001c0004t0004	a0001c0002t0001g0035 a0001c0004t0004g0043 a0001c0002t0001g0035 a0001c0004t0004g0043	2	56	0.0357	21	c.176 others(38): Show c.176-9571_176-9570insTTTTTTTTTTTTTTTTTTTTT	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP10_chr2_114437641_115850780	115384707	A A	AAAGAAGA others(14): Show AAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0048 a0003c0003t0003g0048	1	56	0.0179	21	c.271 others(40): Show c.271+40803_271+40823dupAGAAGAAGAAGAAGAAGAAGA	DPP10	ENSG00000175497.17	transcript	ENST00000410059.6	protein_coding	3/25		INFO_REALIGN_3_PRIME	chr2	TogoVar
DPP4_chr2_161987245_162079215	161987840	T T	TATATATA others(14): Show TATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	292	0.0034	21	c.54 others(32): Show c.5442_*5443insTATATATATATATATATATAT	DPP4	ENSG00000197635.11	transcript	ENST00000360534.8	protein_coding		4404		chr2	TogoVar
DPP6_chr7_154047398_154899285	154575442	G G	GTGTGTGT others(14): Show GTGTGTGTATGTGTGTGTGGTA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp2 HG01433.hp1 others(17): Show HG00558.hp2 HG00673.hp2 HG01433.hp1 HG01433.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02922.hp2 HG02965.hp2 HG03453.hp1 HG03579.hp1 HG03579.hp2 NA18747.hp1 NA19043.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0006 a0001c0010 others(14): Show a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0018 a0001c0020 a0001c0021 a0001c0024 a0001c0025 a0002c0002 a0002c0004 a0002c0005 a0002c0008 a0002c0014 a0002c0019 a0002c0022 a0002c0028	a0001c0003t0007 a0001c0006t0002 a0001c0006t0003 others(17): Show a0001c0003t0007 a0001c0006t0002 a0001c0006t0003 a0001c0010t0010 a0001c0011t0003 a0001c0018t0009 a0001c0020t0001 a0001c0021t0011 a0001c0024t0028 a0001c0025t0001 a0002c0002t0022 a0002c0004t0004 a0002c0004t0006 a0002c0005t0024 a0002c0008t0006 a0002c0008t0012 a0002c0014t0025 a0002c0019t0001 a0002c0022t0023 a0002c0028t0002	a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0006t0003g0013 others(17): Show a0001c0003t0007g0024 a0001c0006t0002g0015 a0001c0006t0003g0013 a0001c0010t0010g0009 a0001c0011t0003g0012 a0001c0018t0009g0023 a0001c0020t0001g0010 a0001c0021t0011g0022 a0001c0024t0028g0003 a0001c0025t0001g0018 a0002c0002t0022g0030 a0002c0004t0004g0008 a0002c0004t0006g0028 a0002c0005t0024g0031 a0002c0008t0006g0034 a0002c0008t0012g0001 a0002c0014t0025g0029 a0002c0019t0001g0021 a0002c0022t0023g0027 a0002c0028t0002g0016	20	38	0.5263	21	c.627 others(38): Show c.627+8542_627+8543insTGGTATGTGTGTATGTGTGTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	5/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
DPP8_chr15_65437467_65522689	65470919	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0331 a0001c0002t0013g0331	1	336	0.0030	21	c.153 others(40): Show c.1536+3289_1536+3290insTTTTTTTTTTTTTTTTTTTTT	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	12/19			chr15	TogoVar
DPP8_chr15_65437467_65522689	65494149	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02895.hp1 HG02055.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0015 a0001c0003t0005g0019 a0001c0003t0005g0015 a0001c0003t0005g0019	2	336	0.0060	21	c.715 others(38): Show c.715+3714_715+3715insAAAAAAAAAAAAAAAAAAAAA	DPP8	ENSG00000074603.19	transcript	ENST00000300141.11	protein_coding	5/19			chr15	TogoVar
DPPA3_chr12_7706433_7722559	7712076	C C	CCGGCTAT others(14): Show CCGGCTATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	466	0.0022	21	c.82+ others(34): Show c.82+424_82+425insCGGCTATTTTTTTTTTTTTTT	DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding	1/3			chr12	TogoVar
DPPA3_chr12_7706433_7722559	7712077	G G	GGCTATTT others(14): Show GGCTATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp1 HG01496.hp1 others(22): Show HG00423.hp2 HG00621.hp1 HG01496.hp1 HG02071.hp1 HG02074.hp1 HG02293.hp1 HG02523.hp1 HG02523.hp2 HG03927.hp2 NA18945.hp1 NA18949.hp2 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18980.hp2 NA18984.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19065.hp1 NA19075.hp2 NA19085.hp2 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0018 a0001c0001t0001g0105 a0001c0001t0001g0106 a0002c0002t0001g0068	25	466	0.0537	21	c.82+ others(34): Show c.82+425_82+426insGCTATTTTTTTTTTTTTTTTT	DPPA3	ENSG00000187569.3	transcript	ENST00000345088.3	protein_coding	1/3			chr12	TogoVar
DPY19L1_chr7_34923881_35042485	35017501	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	328	0.0031	21	c.411 others(36): Show c.411+360_411+380dupTTTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	3/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35027668	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02698.hp2 HG02896.hp2 others(2): Show HG01934.hp2 HG02698.hp2 HG02896.hp2 NA19003.hp2 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 others(2): Show a0002c0002t0003g0217 a0002c0002t0003g0218 a0002c0002t0003g0219 a0002c0002t0003g0220 a0002c0002t0003g0240	5	328	0.0152	21	c.299 others(38): Show c.299-9073_299-9072insTTTTTTTTTTTTTTTTTTTTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding	1/21			chr7	TogoVar
DPY19L1_chr7_34923881_35042485	35040593	G G	GAACCTGA others(14): Show GAACCTGAAAGGGCAACCACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	328	0.0031	21	c.-32 others(32): Show c.-3200_-3199insAAGTGGTTGCCCTTTCAGGTT	DPY19L1	ENSG00000173852.16	transcript	ENST00000638088.2	protein_coding		3109		chr7	TogoVar
DPY19L2_chr12_63553913_63673493	63592006	G G	GAGGGGAG others(14): Show GAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp1 HG02622.hp2 others(3): Show HG01891.hp2 HG02615.hp1 HG02622.hp2 HG03130.hp1 HG03486.hp2 HG03540.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 others(3): Show a0003c0004t0003g0093 a0003c0004t0003g0095 a0003c0004t0003g0096 a0003c0004t0003g0097 a0003c0004t0003g0098 a0003c0004t0003g0099	6	362	0.0166	21	c.158 others(40): Show c.1580+2080_1580+2081insACCCCTCCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63592011	G G	GAGGGGAG others(14): Show GAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02280.hp1 HG02717.hp1 others(6): Show HG00673.hp1 HG02280.hp1 HG02717.hp1 HG03834.hp1 NA18942.hp1 NA18960.hp2 NA18982.hp2 NA19058.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0003 a0001c0001t0001 a0001c0006t0003	a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 others(6): Show a0001c0001t0001g0192 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0001g0250 a0001c0006t0003g0207	9	362	0.0249	21	c.158 others(40): Show c.1580+2075_1580+2076insACCCCTCCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63592021	G G	GAGGGGAG others(14): Show GAGGGGAGGGGAGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01168.hp1 others(13): Show HG01081.hp1 HG01099.hp1 HG01168.hp1 HG01169.hp2 HG01361.hp2 HG02109.hp1 HG02559.hp1 HG02615.hp2 HG02723.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03209.hp1 HG03491.hp1 NA18522.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0007	a0001c0006 a0002c0002 a0005c0009 others(1): Show a0001c0006 a0002c0002 a0005c0009 a0007c0012	a0001c0006t0003 a0002c0002t0003 a0005c0009t0003 others(1): Show a0001c0006t0003 a0002c0002t0003 a0005c0009t0003 a0007c0012t0003	a0001c0006t0003g0009 a0001c0006t0003g0278 a0001c0006t0003g0279 others(12): Show a0001c0006t0003g0009 a0001c0006t0003g0278 a0001c0006t0003g0279 a0001c0006t0003g0280 a0001c0006t0003g0281 a0001c0006t0003g0282 a0001c0006t0003g0283 a0001c0006t0003g0284 a0001c0006t0003g0285 a0002c0002t0003g0169 a0002c0002t0003g0170 a0002c0002t0003g0172 a0005c0009t0003g0171 a0005c0009t0003g0174 a0007c0012t0003g0168	16	362	0.0442	21	c.158 others(40): Show c.1580+2065_1580+2066insACCCCTCCCCTCCCCTCCCCT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	16/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63610841	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp1 NA18941.hp1 others(1): Show HG01255.hp1 HG06807.hp1 NA18941.hp1 NA18945.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0225 a0002c0003t0001g0011	4	362	0.0111	21	c.121 others(40): Show c.1219-2187_1219-2167dupTTTTTTTTTTTTTTTTTTTTT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	11/21			chr12	TogoVar
DPY19L2_chr12_63553913_63673493	63647415	C C	CATAATAA others(14): Show CATAATAATAATAATAATAATA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0027 a0002c0002t0004g0027	1	362	0.0028	21	c.589 others(34): Show c.589-71_589-51dupTATTATTATTATTATTATTAT	DPY19L2	ENSG00000177990.12	transcript	ENST00000324472.9	protein_coding	4/21			chr12	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(14): Show ATATATACTATATATATATAGT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0071 a0001c0001t0010g0071	1	316	0.0032	21	c.355 others(40): Show c.355-25704_355-25703insTATATACTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAT others(14): Show ATATATATACTATATATATAGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01496.hp1 HG02055.hp1 others(12): Show HG00597.hp2 HG01496.hp1 HG02055.hp1 HG02818.hp2 HG03017.hp1 HG03486.hp1 HG03491.hp1 HG03579.hp2 HG03710.hp2 HG03834.hp1 HG04204.hp1 NA18950.hp1 NA18992.hp1 NA19062.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0051 a0001c0002t0001 a0001c0008t0005	a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 others(12): Show a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0090 a0001c0001t0004g0075 a0001c0001t0005g0078 a0001c0001t0007g0073 a0001c0001t0007g0086 a0001c0001t0007g0091 a0001c0001t0008g0305 a0001c0001t0010g0306 a0001c0001t0051g0085 a0001c0002t0001g0080 a0001c0002t0001g0084 a0001c0008t0005g0088	15	316	0.0475	21	c.355 others(40): Show c.355-25704_355-25703insTATATATACTATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
DPYSL4_chr10_132181948_132210759	132205122	A A	AGGGCTGA others(14): Show AGGGCTGAACCTGGGGAGATGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02647.hp1 HG02965.hp1 HG02257.hp2 HG02647.hp1 HG02965.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0021 a0002c0005t0032 a0001c0001t0021 a0002c0005t0032	a0001c0001t0021g0024 a0002c0005t0032g0067 a0001c0001t0021g0024 a0002c0005t0032g0067	3	418	0.0072	21	c.19 others(30): Show c.193_*213dupGGGCTGAACCTGGGGAGATGT	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding	14/14	214	INFO_REALIGN_3_PRIME	chr10	TogoVar
DPYSL4_chr10_132181948_132210759	132205982	G G	GGCCCCCC others(14): Show GGCCCCCCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0042 a0001c0004t0003g0042	1	418	0.0024	21	c.10 others(32): Show c.1052_*1053insGCCCCCCCCCCCCCCCCCCCC	DPYSL4	ENSG00000151640.13	transcript	ENST00000338492.9	protein_coding		224		chr10	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03710.hp2 HG02735.hp1 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0283 a0001c0001t0001g0274 a0001c0001t0001g0283	2	396	0.0051	21	c.132 others(38): Show c.132-2663_132-2662insGTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101895186	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02074.hp2 HG02129.hp1 others(10): Show HG02040.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp2 NA18950.hp1 NA18960.hp1 NA18985.hp1 NA19000.hp1 NA19003.hp2 NA19057.hp2 NA19079.hp1 NA19081.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0021 a0001c0001t0001 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0292 others(10): Show a0001c0001t0001g0269 a0001c0001t0001g0282 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0308 a0001c0001t0001g0311 a0001c0001t0003g0081 a0001c0001t0021g0243	13	396	0.0328	21	c.132 others(38): Show c.132-2667_132-2647dupTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRAM1_chr12_101872580_101928612	101920297	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0083 a0001c0001t0002g0083	1	396	0.0025	21	c.672 others(36): Show c.672+115_672+116insTTTTTTTTTTTTTTTTTTTTT	DRAM1	ENSG00000136048.14	transcript	ENST00000258534.13	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
DRC1_chr2_26396920_26461711	26414115	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01106.hp1 others(1): Show HG01069.hp2 HG01071.hp1 HG01106.hp1 HG02922.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0003 a0001c0001t0001 a0003c0005t0003	a0001c0001t0001g0017 a0001c0001t0001g0332 a0003c0005t0003g0331 a0001c0001t0001g0017 a0001c0001t0001g0332 a0003c0005t0003g0331	4	384	0.0104	21	c.156 others(36): Show c.156-219_156-199dupATTATTATTATTATTATTATT	DRC1	ENSG00000157856.12	transcript	ENST00000288710.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
DRC3_chr17_17967862_18021889	18019186	C C	CACACACA others(14): Show CACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	324	0.0031	21	c.25 others(32): Show c.2515_*2516insACACACACACACACACACACA	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding		2298		chr17	TogoVar
DSC1_chr18_31124236_31167856	31150267	T T	TCACCACT others(14): Show TCACCACTACCATCACCACCAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03139.hp2 HG03471.hp2 HG01891.hp1 HG03139.hp2 HG03471.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0305 a0001c0009t0001g0306 a0001c0009t0001g0307 a0001c0009t0001g0305 a0001c0009t0001g0306 a0001c0009t0001g0307	3	378	0.0079	21	c.628 others(38): Show c.628-1646_628-1626dupGTGGTGGTGATGGTAGTGGTG	DSC1	ENSG00000134765.10	transcript	ENST00000257198.6	protein_coding	5/15			chr18	TogoVar
DSC2_chr18_31053840_31107421	31083489	T T	TAAAATTG others(14): Show TAAAATTGCCTGGTAATTAATC	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG03492.hp1 HG02735.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0093 a0001c0001t0029g0149 a0001c0001t0029g0093 a0001c0001t0029g0149	2	380	0.0053	21	c.943 others(36): Show c.943-450_943-430dupGATTAATTACCAGGCAATTTT	DSC2	ENSG00000134755.18	transcript	ENST00000280904.11	protein_coding	7/15			chr18	TogoVar
DSC3_chr18_30984365_31047742	31006292	G G	GTATTATT others(14): Show GTATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03491.hp2 NA20752.hp1 HG03490.hp2 HG03491.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0140 a0002c0002t0001g0050 a0002c0002t0001g0063 a0001c0001t0001g0140 a0002c0002t0001g0050 a0002c0002t0001g0063	3	392	0.0077	21	c.188 others(38): Show c.1888+594_1888+614dupATAATAATAATAATAATAATA	DSC3	ENSG00000134762.17	transcript	ENST00000360428.9	protein_coding	12/15			chr18	TogoVar
DSCAML1_chr11_117422772_117802216	117582992	A A	ATATTATT others(14): Show ATATTATTATTATTATTATTAT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02280.hp2 HG00741.hp2 HG02280.hp2	a0002 a0002	a0002c0006 a0002c0010 a0002c0006 a0002c0010	a0002c0006t0002 a0002c0010t0004 a0002c0006t0002 a0002c0010t0004	a0002c0006t0002g0093 a0002c0010t0004g0058 a0002c0006t0002g0093 a0002c0010t0004g0058	2	194	0.0103	21	c.512 others(40): Show c.512-50491_512-50471dupATAATAATAATAATAATAATA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117762868	G G	GTAATAAT others(14): Show GTAATAATAATAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0043 a0001c0043	a0001c0043t0003 a0001c0043t0003	a0001c0043t0003g0184 a0001c0043t0003g0184	1	194	0.0052	21	c.511 others(40): Show c.511+13902_511+13922dupTTATTATTATTATTATTATTA	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	3/32			chr11	TogoVar
DSCAML1_chr11_117422772_117802216	117780231	G G	GAAAGGAA others(14): Show GAAAGGAAAGAAAGGAAAGAAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	194	0.0052	21	c.364 others(36): Show c.364+261_364+262insTTTCTTTCCTTTCTTTCCTTT	DSCAML1	ENSG00000177103.15	transcript	ENST00000651296.2	protein_coding	2/32			chr11	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02451.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0053 a0001c0001t0052 a0001c0001t0053	a0001c0001t0052g0301 a0001c0001t0053g0289 a0001c0001t0052g0301 a0001c0001t0053g0289	2	366	0.0055	21	c.417 others(38): Show c.417-5110_417-5109insATATATATATATATATATATT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421463	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0309 a0001c0001t0021g0309	1	366	0.0027	21	c.417 others(38): Show c.417-5110_417-5109insATATATATATATATTTTTTTT	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
DSE_chr6_116365947_116449861	116421464	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0246 a0001c0001t0007g0246	1	366	0.0027	21	c.417 others(38): Show c.417-5110_417-5109insATATATATATATATATATATA	DSE	ENSG00000111817.19	transcript	ENST00000644252.3	protein_coding	2/5			chr6	TogoVar
DSP_chr6_7536671_7591714	7554126	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0236 a0001c0011t0001g0236	1	396	0.0025	21	c.171 others(38): Show c.171-1592_171-1591insACACACACACACACACACACA	DSP	ENSG00000096696.16	transcript	ENST00000379802.8	protein_coding	1/23			chr6	TogoVar
DSTN_chr20_17565075_17614919	17583735	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19090.hp2 NA18906.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0034 a0001c0001t0003 a0001c0001t0034	a0001c0001t0003g0153 a0001c0001t0034g0195 a0001c0001t0003g0153 a0001c0001t0034g0195	2	348	0.0058	21	c.3+1 others(36): Show c.3+13527_3+13547dupTTTTTTTTTTTTTTTTTTTTT	DSTN	ENSG00000125868.16	transcript	ENST00000246069.12	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr20	TogoVar
DST_chr6_56452996_56959830	56712100	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0008 a0008	a0008c0052 a0008c0052	a0008c0052t0001 a0008c0052t0001	a0008c0052t0001g0022 a0008c0052t0001g0022	1	84	0.0119	21	c.688 others(38): Show c.688-7732_688-7731insGTTTTTTTTTTTTTTTTTTTT	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	5/103			chr6	TogoVar
DST_chr6_56452996_56959830	56858192	T T	TGAGAGGA others(14): Show TGAGAGGAAGGGGGATCAGAGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 NA20752.hp2 HG01433.hp1 NA20752.hp2	a0011 a0026 a0011 a0026	a0011c0015 a0026c0014 a0011c0015 a0026c0014	a0011c0015t0001 a0026c0014t0001 a0011c0015t0001 a0026c0014t0001	a0011c0015t0001g0058 a0026c0014t0001g0059 a0011c0015t0001g0058 a0026c0014t0001g0059	2	84	0.0238	21	c.418 others(38): Show c.418-6609_418-6589dupCCTCTGATCCCCCTTCCTCTC	DST	ENSG00000151914.22	transcript	ENST00000680361.1	protein_coding	3/103			chr6	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(14): Show ATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03453.hp1 HG02280.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0087 a0001c0002t0002g0022 a0001c0001t0001g0087 a0001c0002t0002g0022	2	112	0.0179	21	c.149 others(38): Show c.149-3469_149-3468insATATATATATATATATTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34790567	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19240.hp1 HG03516.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0004 a0001c0001t0005g0024 a0001c0001t0003g0004 a0001c0001t0005g0024	2	112	0.0179	21	c.149 others(38): Show c.149-3469_149-3468insATATATATATATATTTTTTTT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34844555	A A	AACTAATA others(14): Show AACTAATAATGCTTTCTCAAGT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp1 HG03139.hp1 HG02257.hp1 HG02258.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0003g0012 a0001c0001t0002g0008 a0001c0001t0002g0011 a0001c0001t0003g0012	3	112	0.0268	21	c.134 others(40): Show c.1347-3735_1347-3734insAATGCTTTCTCAAGTACTAAT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNA_chr18_34705298_34896844	34844555	A A	AACTAATA others(14): Show AACTAATAATGCTTTCTCAGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp2 HG01070.hp1 others(49): Show HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG02055.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02523.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp2 NA19240.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0010 a0001c0005t0010 a0002c0003t0007 a0003c0004t0002	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0034 others(48): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0003g0004 a0001c0001t0003g0025 a0001c0001t0003g0082 a0001c0001t0003g0091 a0001c0001t0004g0039 a0001c0001t0004g0095 a0001c0001t0004g0096 a0001c0001t0004g0097 a0001c0001t0005g0021 a0001c0001t0005g0024 a0001c0001t0006g0098 a0001c0001t0006g0109 a0001c0001t0007g0023 a0001c0001t0008g0041 a0001c0001t0010g0009 a0001c0001t0011g0010 a0001c0001t0015g0046 a0001c0001t0017g0088 a0001c0001t0020g0092 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0002g0022 a0001c0002t0003g0017 a0001c0002t0005g0002 a0001c0002t0010g0059 a0001c0005t0010g0089 a0002c0003t0007g0075 a0003c0004t0002g0035	52	112	0.4643	21	c.134 others(40): Show c.1347-3735_1347-3734insAATGCTTTCTCAGGTACTAAT	DTNA	ENSG00000134769.23	transcript	ENST00000444659.6	protein_coding	13/22		INFO_REALIGN_3_PRIME	chr18	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0158 a0001c0002t0001g0158	1	168	0.0060	21	c.100 others(40): Show c.1001+5077_1001+5078insAAAAAAATATATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25526395	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	168	0.0060	21	c.100 others(40): Show c.1001+5077_1001+5078insAAAAAAAAAAATATATATATA	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	9/20			chr2	TogoVar
DTNB_chr2_25372243_25678577	25616630	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02717.hp1 HG03453.hp2 HG02572.hp2 HG02717.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0002t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0104 a0001c0002t0001g0004	3	168	0.0179	21	c.363 others(38): Show c.363-9310_363-9309insTTTTTTTTTTTTTTTTTTTTT	DTNB	ENSG00000138101.20	transcript	ENST00000406818.8	protein_coding	4/20			chr2	TogoVar
DTX2_chr7_76456709_76510991	76468758	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG01175.hp2 others(8): Show HG00408.hp1 HG00597.hp2 HG01175.hp2 HG01952.hp1 HG01975.hp2 HG02273.hp1 HG03098.hp1 HG03516.hp2 NA18952.hp2 NA19068.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 others(8): Show a0001c0003t0001g0128 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0003t0001g0131 a0001c0003t0001g0147 a0001c0003t0001g0148 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0157 a0001c0003t0001g0158	11	280	0.0393	21	c.-90 others(38): Show c.-90+5051_-90+5071dupTTTTTTTTTTTTTTTTTTTTT	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76486846	G G	GGCGGCGG others(14): Show GGCGGCGGCTGCTGCTGCTGCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0010 a0010	a0010c0030 a0010c0030	a0010c0030t0003 a0010c0030t0003	a0010c0030t0003g0263 a0010c0030t0003g0263	1	280	0.0036	21	c.908 others(38): Show c.908+3701_908+3702insGGCGGCTGCTGCTGCTGCTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DTX2_chr7_76456709_76510991	76486884	C C	CTGCTGCT others(14): Show CTGCTGCTGCTGCTGCTGCTTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0013 a0003c0005t0001g0014 a0003c0005t0001g0013 a0003c0005t0001g0014	2	280	0.0071	21	c.908 others(38): Show c.908+3740_908+3741insTGCTGCTGCTGCTGCTTTTGC	DTX2	ENSG00000091073.20	transcript	ENST00000430490.7	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
DUS3L_chr19_5780140_5796163	5796129	G G	GTCTTCTT others(14): Show GTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0001 a0002c0001t0002g0001	1	364	0.0028	21	c.-49 others(32): Show c.-4989_-4988insAGAAGAAGAAGAAGAAGAAGA	DUS3L	ENSG00000141994.16	transcript	ENST00000309061.12	protein_coding		4967		chr19	TogoVar

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Search Results (Total: 10000 hits)