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
ZSWIM9_chr19_48165680_48202620	48187465	A A	ATATATTA others(101): Show ATATATTATATATATTATATATTATATTATAATATATTATATTATATATA TTATATATTATATTATAATATATTATATTATATATATTATATATTATATT ATAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 NA20752.hp2 HG00280.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0205 a0001c0001t0001g0179 a0001c0001t0001g0205	2	388	0.0052	108	c.588 others(125): Show c.588+4744_588+4745insATATTATATATTATATTATAATATATTA TATTATATATATTATATATTATATTATAATATATTATATTATATATATTA TATATTATATTATAATATATTATATTATAT	ZSWIM9	ENSG00000185453.13	transcript	ENST00000614654.2	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ABCA1_chr9_104776006_104933155	104862701	G G	GGCAGGGC others(102): Show GGCAGGGCAGGGCAGGGCCGGGCCGGGCCGGCCCCCCACCCCCACCCCCA CCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACCCCCACC CCCACCCCCA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0005 a0005	a0005c0022 a0005c0022	a0005c0022t0002 a0005c0022t0002	a0005c0022t0002g0284 a0005c0022t0002g0284	1	318	0.0031	109	c.422 others(124): Show c.422-902_422-901insTGGGGGTGGGGGTGGGGGTGGGGGTGGGGG TGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGTGGGGGGC CGGCCCGGCCCGGCCCTGCCCTGCCCTGC	ABCA1	ENSG00000165029.17	transcript	ENST00000374736.8	protein_coding	5/49			chr9	TogoVar
ABCC4_chr13_95014835_95306451	95244644	A A	AGGAAGGA others(102): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0203 a0001c0001t0002g0203	1	248	0.0040	109	c.306 others(126): Show c.306+2330_306+2331insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(102): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0013 a0001c0021t0013	a0001c0021t0013g0015 a0001c0021t0013g0015	1	248	0.0040	109	c.306 others(126): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244648	A A	AGGAAGGA others(102): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0007 a0007	a0007c0070 a0007c0070	a0007c0070t0005 a0007c0070t0005	a0007c0070t0005g0054 a0007c0070t0005g0054	1	248	0.0040	109	c.306 others(126): Show c.306+2326_306+2327insCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGAAAGGA others(102): Show AGAAAGGAAGGGAGGGAGGGAGGGAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0009 a0001c0041t0009	a0001c0041t0009g0127 a0001c0041t0009g0127	1	248	0.0040	109	c.306 others(126): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTCCCTCCCTCCCTCCCTTCCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGGAAGGA others(102): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAACGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA AGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0019 a0001c0003t0005g0019	1	248	0.0040	109	c.306 others(126): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCGTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABHD18_chr4_127960406_128044953	128028300	G G	GGATTTCC others(102): Show GGATTTCCTTTTAAGGAATCCTTTTATTTATTTATTTATTTATTTATTTA TTTATTTATTTATTATTTATTATTTATTTATTTATTTATTTATTATTATT TATTTATTTA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp1 HG02055.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0263 a0001c0001t0025g0265 a0001c0001t0025g0263 a0001c0001t0025g0265	2	344	0.0058	109	c.802 others(124): Show c.802-175_802-174insGATTTCCTTTTAAGGAATCCTTTTATTTAT TTATTTATTTATTTATTTATTTATTTATTTATTATTTATTATTTATTTAT TTATTTATTTATTATTATTTATTTATTTA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	10/12			chr4	TogoVar
ABR_chr17_998519_1184981	1164048	T T	TAGGACGG others(102): Show TAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CTAGGTAGGA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	337	0.0030	109	c.61+ others(126): Show c.61+15618_61+15619insTCCTACCTAGATGCTCCGACATCCATGT TCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTG CTGTGTGTGACACTTTGCCAGGGTCCGTCCT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACSF3_chr16_89088852_89161233	89137288	T T	TCGGGAGG others(102): Show TCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGAAGAGCCCCG GGTCTCGGGAGGACCACCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAG CCCCAGGTCC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0045 a0003c0007t0007g0045	1	368	0.0027	109	c.136 others(128): Show c.1366+4065_1366+4066insAAGAGCCCCGGGTCTCGGGAGGACCA CCAGGAGCTCACGGGGAAGGATTGAGGGGAAGAGCCCCAGGTCCCGGGAG GACCACCAGGAGCTCACGGGGAAGGATTGAGGG	ACSF3	ENSG00000176715.17	transcript	ENST00000614302.5	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ADAMTS6_chr5_65143738_65486920	65230668	C C	CATTATAT others(102): Show CATTATATATATGAAATATATATAATACATTATATATATGAAATATATAT AATACATTATATATATGAAATATATATAATACATTATATATATGAAATAT ATAATACATT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	204	0.0049	109	c.193 others(128): Show c.1934-4450_1934-4449insAATGTATTATATATTTCATATATATA ATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATATA TATAATGTATTATATATATTTCATATATATAAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADAMTS6_chr5_65143738_65486920	65230692	C C	CATTATAT others(102): Show CATTATATATATGAAATATATATAATACATTATATATATGAAATATATAT AATACATTATATATATGAAATATATATAATACATTATATATATGAAATAT ATAATACATG	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02630.hp2 HG01074.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0157 a0001c0001t0003g0065 a0001c0001t0002g0157 a0001c0001t0003g0065	2	204	0.0098	109	c.193 others(128): Show c.1934-4474_1934-4473insCATGTATTATATATTTCATATATATA ATGTATTATATATATTTCATATATATAATGTATTATATATATTTCATATA TATAATGTATTATATATATTTCATATATATAAT	ADAMTS6	ENSG00000049192.15	transcript	ENST00000381055.8	protein_coding	15/24			chr5	TogoVar
ADGRG6_chr6_142297007_142451261	142318064	A A	ATATATAT others(102): Show ATATATATTTATATTATATATTTATATTATATATTTATATATATTATATA TTTATATTTATATATTATATATTTATATAATATATATTTATATAATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0179 a0002c0003t0002g0179	1	260	0.0039	109	c.103 others(126): Show c.103+8433_103+8434insTATATATTTATATTATATATTTATATAT ATTATATATTTATATTTATATATTATATATTTATATAATATATATTTATA TAATATATATTTATATATTATATATTTATAT	ADGRG6	ENSG00000112414.15	transcript	ENST00000367609.8	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRL3_chr4_61195326_62083335	61847604	T T	TAATATAT others(102): Show TAATATATTATATATAATATAAAATATATTATATATAATATAAAATATAT TATATATAATATAAAATATATTATATATATAATATAAAATATATTATATA TATAATATAA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0022 a0001c0006t0010 a0001c0001t0022 a0001c0006t0010	a0001c0001t0022g0017 a0001c0006t0010g0024 a0001c0001t0022g0017 a0001c0006t0010g0024	2	58	0.0345	109	c.148 others(130): Show c.1480+33730_1480+33731insATATAAAATATATTATATATAATA TAAAATATATTATATATAATATAAAATATATTATATATATAATATAAAAT ATATTATATATATAATATAAAATATATTATATATA	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	9/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADRA1D_chr20_4215630_4254287	4224714	T T	TGTTCCAT others(102): Show TGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGGGCCA GGGGTGTTCCATCCTGGATAGAGGCTGCAGGTGCCTGTGAGACCAAGCGG GCCAGGGGTA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0041 a0001c0003t0002g0041	1	452	0.0022	109	c.111 others(128): Show c.1112-2585_1112-2584insTACCCCTGGCCCGCTTGGTCTCACAG GCACCTGCAGCCTCTATCCAGGATGGAACACCCCTGGCCCGCTTGGTCTC ACAGGCACCTGCAGCCTCTATCCAGGATGGAAC	ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1			chr20	TogoVar
AGPAT2_chr9_136668143_136692457	136671036	G G	GGGCAGGC others(102): Show GGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCATTGGTGGG GGGGGGGGCAGGCAGTCCAGGGTGGACCTGCTGGAGGAGGTGAGGCATTG GTGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	374	0.0027	109	c.27 others(120): Show c.2715_*2716insGCCCCCCCACCAATGCCTCACCTCCTCCAGCAGG TCCACCCTGGACTGCCTGCCCCCCCCCCCACCAATGCCTCACCTCCTCCA GCAGGTCCACCCTGGACTGCCTGCC	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding		2106		chr9	TogoVar
AHI1_chr6_135278532_135502740	135390487	C C	CCACTTAG others(102): Show CCACTTAGCAATGTGGCAGGACAACGAATGAAGGAGTGGCTCTAGACAGT CTCCCTGAGGGCTGTGAGCAGGGAGCCCACTTCATCTCCCTAAACATGTA CCGTCGTCTA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0017 a0001c0003t0004g0017	1	220	0.0046	109	c.310 others(128): Show c.3109+4180_3109+4288dupTAGACGACGGTACATGTTTAGGGAGA TGAAGTGGGCTCCCTGCTCACAGCCCTCAGGGAGACTGTCTAGAGCCACT CCTTCATTCGTTGTCCTGCCACATTGCTAAGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	23/28			chr6	TogoVar
AHRR_chr5_316714_443285	318194	C C	CACCTCCC others(102): Show CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02273.hp1 HG02809.hp1 HG02818.hp1 others(5): Show HG02273.hp1 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG03041.hp2 HG03195.hp2 HG03540.hp1 HG06807.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0002c0002 a0004c0003 others(1): Show a0001c0001 a0002c0002 a0004c0003 a0007c0007	a0001c0001t0022 a0002c0002t0007 a0004c0003t0007 others(4): Show a0001c0001t0022 a0002c0002t0007 a0004c0003t0007 a0004c0003t0009 a0004c0003t0022 a0007c0007t0007 a0007c0007t0023	a0001c0001t0022g0238 a0002c0002t0007g0028 a0004c0003t0007g0235 others(5): Show a0001c0001t0022g0238 a0002c0002t0007g0028 a0004c0003t0007g0235 a0004c0003t0009g0232 a0004c0003t0009g0248 a0004c0003t0022g0243 a0007c0007t0007g0247 a0007c0007t0023g0225	8	268	0.0299	109	c.-36 others(120): Show c.-3636_-3635insACCTCCCCCATCCTTCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3519		chr5	TogoVar
AHRR_chr5_316714_443285	318246	C C	CACCTCCC others(102): Show CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCC CCCATCCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 NA18966.hp2 NA19000.hp1 others(1): Show HG00621.hp1 NA18966.hp2 NA19000.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 others(1): Show a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0132	4	268	0.0149	109	c.-35 others(120): Show c.-3584_-3583insACCTCCCCCATCCTTCACCTCCCCCACTCACCCT CCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT CACCCTGCACCTCCCCCCATCCTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3467		chr5	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(102): Show TATATATATATATGTATGTATATATATATATATATATATATATGTGTGTG TATATATATGTATACATATATATATGTGTGTGTATATATATGTATATATA TATATATATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0224 a0002c0001t0002g0224	1	314	0.0032	109	c.416 others(130): Show c.4162-25661_4162-25660insATATATATATATGTATGTATATAT ATATATATATATATATATGTGTGTGTATATATATGTATACATATATATAT GTGTGTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
ANKH_chr5_14699800_14876778	14811181	C C	CAAGAGTC others(102): Show CAAGAGTCTCGGCTCTGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03516.hp2 HG02630.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0024 a0001c0004t0009 a0001c0001t0024 a0001c0004t0009	a0001c0001t0024g0222 a0001c0004t0009g0051 a0001c0001t0024g0222 a0001c0004t0009g0051	2	232	0.0086	109	c.97- others(126): Show c.97-41991_97-41990insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGA CTGCAGTGGCGCAATCAGAGCCGAGACTCTT	ANKH	ENSG00000154122.14	transcript	ENST00000284268.8	protein_coding	1/11			chr5	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(102): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0022 a0022	a0022c0038 a0022c0038	a0022c0038t0002 a0022c0038t0002	a0022c0038t0002g0291 a0022c0038t0002g0291	1	356	0.0028	109	c.37- others(124): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANKRD24_chr19_4177689_4229814	4195060	T T	TTTTGTTT others(102): Show TTTTGTTTGTTTGTTTGTTTGTTTGTTTTTAGAGAGGGAGTCTCGCTGTG TCTCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCGTGAGCCACCACGCC CAGGTTTTTG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 HG01168.hp1 HG01169.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0121 a0003c0003t0001g0231 a0003c0003t0001g0121 a0003c0003t0001g0231	2	356	0.0056	109	c.37- others(124): Show c.37-4580_37-4579insGCTGTGTCTCCCAGGCTGGAGTGCAGTGGT GCGATCTCGGCGTGAGCCACCACGCCCAGGTTTTTGTTTGTTTGTTTGTT TGTTTGTTTGTTTTTAGAGAGGGAGTCTC	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO2_chr12_5557655_5950259	5812589	A A	AAGAGGAA others(102): Show AAGAGGAAGGAAGAAGAAAAAGGAAGGAAGGTGGAAGGAAAGGAAGGAAG GAAGGGAAGGAGGAAGGGAGGAAGAGAGGGAGGGAAGGCAGACAAGAGAA AGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	162	0.0062	109	c.893 others(126): Show c.893-5222_893-5221insCTTTCTTTCTTTCTCTTGTCTGCCTTCC CTCCCTCTCTTCCTCCCTTCCTCCTTCCCTTCCTTCCTTCCTTTCCTTCC ACCTTCCTTCCTTTTTCTTCTTCCTTCCTCT	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	7/24			chr12	TogoVar
ANO2_chr12_5557655_5950259	5902850	G G	GGAGAGGG others(102): Show GGAGAGGGGAGGGGAGGGGAGGAGCGGGGAGGGGAGGAGAAGGGAGGGGA GGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGA AGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0056 a0006c0012t0001g0056	1	162	0.0062	109	c.534 others(128): Show c.534+18189_534+18190insTCCCCTCCCTTCTCCTCCCCTCCCCT CCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCT CCCCTCCCCGCTCCTCCCCTCCCCTCCCCTCTC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
ARFRP1_chr20_63693647_63712976	63693666	A A	ACCACCAC others(102): Show ACCACCACCACCTCCACCTCCACCACCACCACCTCCACCACCACCACCTC CACCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCACCACCA CCACCACCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0031 a0001c0002t0002g0031	1	296	0.0034	109	c.67 others(120): Show c.6776_*6777insAGGGTGGTGGTGGTGGTGGAGGTGGTGGTGGAGG TGGTGGTGGTGGAGGTGGAGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTGGAGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4980		chr20	TogoVar
ARFRP1_chr20_63693647_63712976	63693675	A A	ACCTCCAC others(102): Show ACCTCCACCACCTCCACCTCCACCACCACCACCTCCACCACCACCTCCAC CACCACCACCCACCTCCACCACCACCACCTCCACCACCACCCTCCACCAC CCCTCCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0011 a0001c0002t0002g0011	1	296	0.0034	109	c.67 others(120): Show c.6767_*6768insAGGTGGAGGGGTGGTGGAGGGTGGTGGTGGAGGT GGTGGTGGTGGAGGTGGGTGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTG GTGGTGGAGGTGGAGGTGGTGGAGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4971		chr20	TogoVar
ARHGAP10_chr4_147727088_148077776	147784806	A A	AATATATT others(102): Show AATATATTATAAAATATATATTATAAATATATATTATAAAATATATATTA TAAATATAATATATTATAAAATATATATTAAAAATATATATTATAAATAT ATTATAAAAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0078 a0001c0002t0001g0078	1	106	0.0094	109	c.155 others(128): Show c.155-37890_155-37889insATTATAAAATATATATTATAAATATA ATATATTATAAAATATATATTAAAAATATATATTATAAATATATTATAAA ATATATATTATAAAATATATATTATAAATATAT	ARHGAP10	ENSG00000071205.12	transcript	ENST00000336498.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr4	TogoVar
ARHGAP35_chr19_46855997_47010077	46879587	A A	AAAATAAA others(102): Show AAAATAAATAAATAAATAAAGGTTGCAGTGAGCCAAGATCGCGCCACTGC ACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAATAAATAA ATAAATAAAT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG04115.hp1 NA19030.hp2 HG02004.hp2 HG04115.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0018 a0001c0001t0003 a0001c0001t0010 a0001c0001t0018	a0001c0001t0003g0061 a0001c0001t0010g0222 a0001c0001t0018g0227 a0001c0001t0003g0061 a0001c0001t0010g0222 a0001c0001t0018g0227	3	298	0.0101	109	c.-18 others(130): Show c.-189+18397_-189+18398insGGTTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAAT AAATAAATAAATAAATAAATAAATAAATAAATAAA	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687263	A A	ACCCCCGT others(102): Show ACCCCCGTGACCACACACTGGCGGCGACCATTTCCCACCCCCGTGACCAC GCACTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAG CACTTCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	246	0.0041	109	c.-16 others(120): Show c.-1660_-1659insGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAG GGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGGTGGGAAATGGT CGCCGCCAGTGTGTGGTCACGGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1418		chr8	TogoVar
ARHGAP6_chrX_11132544_11670920	11590862	A A	AGAAGAGA others(102): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAAAAGAAAAGAAAAGAAAAGAAGGAAAGAA GGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	144	0.0069	109	c.588 others(128): Show c.588+73378_588+73379insCTTTCTTTCCTTCTTTCCTTCTTTTC TTTTCTTTTCTTTTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTC	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGDIG_chr16_275591_288010	285949	C C	CCCCAACC others(102): Show CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	442	0.0023	109	c.31 others(120): Show c.3135_*3136insCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCA ACCCCAACCCCAACCCCGCGGTTCT	ARHGDIG	ENSG00000242173.10	transcript	ENST00000219409.8	protein_coding		2940		chr16	TogoVar
ARHGEF1_chr19_41878184_41912452	41894123	A A	AGAGAGAG others(102): Show AGAGAGAGAGAGAGTGTGTGTGTGTGTGCGCGCGCGTGTGTGTGTGTGGG GGGGGCGGGGGCCGGGCCTCTGCCTCTAGGGGGAGAGAGAGAGAGAGTGT GTGTGTGAGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0023 a0001c0003t0001g0023	1	234	0.0043	109	c.645 others(122): Show c.645-83_645-82insAGAGAGAGAGAGTGTGTGTGTGTGTGCGCGCG CGTGTGTGTGTGTGGGGGGGGCGGGGGCCGGGCCTCTGCCTCTAGGGGGA GAGAGAGAGAGAGTGTGTGTGTGAGTG	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	8/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF1_chr19_41878184_41912452	41896849	C C	CTCCTCTC others(102): Show CTCCTCTCTCACCTACCCCCTCCTCTCACCTCCCCCCCCCCTCACCTCCC CTCTCTTCTCTCACCTCCCTCTTCCTCTCTCACCTCCCCCCTCCTCTCTC ACCTCCCCCA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0022 a0001c0003t0001g0022	1	234	0.0043	109	c.112 others(126): Show c.1121+401_1121+402insCCCCCCTCACCTCCCCTCTCTTCTCTCA CCTCCCTCTTCCTCTCTCACCTCCCCCCTCCTCTCTCACCTCCCCCATCC TCTCTCACCTACCCCCTCCTCTCACCTCCCC	ARHGEF1	ENSG00000076928.20	transcript	ENST00000354532.8	protein_coding	13/28		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGEF33_chr2_38884875_38980454	38934557	C C	CCTCCCCC others(102): Show CCTCCCCCTTTTCTCCCTTCCTCCCGCTTCTCTCCCTCCCTCCCCCCTCT CTCCCGCTTCTCTCCCTCCCTCCCCCCTCTCTCCCGCTTCTCTCCCTCCC TCCCCCCTCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	278	0.0036	109	c.506 others(126): Show c.506-1213_506-1212insCCTTTTCTCCCTTCCTCCCGCTTCTCTC CCTCCCTCCCCCCTCTCTCCCGCTTCTCTCCCTCCCTCCCCCCTCTCTCC CGCTTCTCTCCCTCCCTCCCCCCTCTCTCCC	ARHGEF33	ENSG00000214694.13	transcript	ENST00000409978.7	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
ATP11A_chr13_112685038_112892168	112803887	A A	ATTCCCCT others(102): Show ATTCCCCTCATTCCCCTCCTTCCCTCCTTCACCTCCCTCCCCCCATCCCC TCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTGCTTCCCTTCCTTCCCTC ATTCCCCTCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0005 a0005	a0005c0032 a0005c0032	a0005c0032t0001 a0005c0032t0001	a0005c0032t0001g0234 a0005c0032t0001g0234	1	254	0.0039	109	c.163 others(126): Show c.163-1062_163-1061insATTCCCCTCCTTCCCTCCTTCACCTCCC TCCCCCCATCCCCTCTCTGCCCTCCTTCCCCTCCTTTTCCTCCTTGCTTC CCTTCCTTCCCTCATTCCCCTCCTTCCCCTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864180	C C	CAGGCCTG others(102): Show CAGGCCTGCGCAGCTTCCCAGCGGGGTCCATCACCACCTGCACAGTAATT CAGTGCAGCCCGCGCAGCTTCCCAGTGGGGACCATCACCACGTGCGCAAT AATTCAGCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	109	c.299 others(128): Show c.2991+1607_2991+1608insGCCTGCGCAGCTTCCCAGCGGGGTCC ATCACCACCTGCACAGTAATTCAGTGCAGCCCGCGCAGCTTCCCAGTGGG GACCATCACCACGTGCGCAATAATTCAGCGTAG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112864720	C C	CAGCCCAT others(102): Show CAGCCCATGCAGCTTCCCAGCGGGATCCATCACCACCTGCGCAGTAATTC AGTGCAGGCCCGCGCAGCTTCCCAGTGGGGATCATCACCACGTGCGCCAT AATTCAGCGT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0050 a0001c0004t0050	a0001c0004t0050g0033 a0001c0004t0050g0033	1	254	0.0039	109	c.299 others(128): Show c.2991+2148_2991+2149insCCATGCAGCTTCCCAGCGGGATCCAT CACCACCTGCGCAGTAATTCAGTGCAGGCCCGCGCAGCTTCCCAGTGGGG ATCATCACCACGTGCGCCATAATTCAGCGTAGC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP8A2_chr13_25366974_26030851	25465685	T T	TTCTTTCT others(102): Show TTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTTTCTC TCTTTCTCTC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0020 a0001c0002t0020	a0001c0002t0020g0097 a0001c0002t0020g0097	1	122	0.0082	109	c.77- others(124): Show c.77-3283_77-3282insTCTTTCTTTCTTTCTTTCTTTCTTTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCTCTCTCTCTCTCTCTCTTTCTCTCTT TCTCTTTCTCTCTTTCTCTCTCTTTCTTT	ATP8A2	ENSG00000132932.19	transcript	ENST00000381655.7	protein_coding	1/36		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP9B_chr18_79064394_79383283	79236980	A A	ATCAGTGT others(102): Show ATCAGTGTCCACACCTGCCCCTTCCCCACTGTGTACACGGTCCGTGCACG AGTCAGTGTCCACACCTGCCCCTTCCCCCTTCCCCACTGTGTACACAGTC CGTGCACGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0182 a0002c0002t0002g0182	1	298	0.0034	109	c.110 others(130): Show c.1108-16265_1108-16157dupACTGTGTACACGGTCCGTGCACGA GTCAGTGTCCACACCTGCCCCTTCCCCCTTCCCCACTGTGTACACAGTCC GTGCACGAGTCAGTGTCCACACCTGCCCCTTCCCC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	11/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
AXIN1_chr16_282440_357723	285949	C C	CCCCAACC others(102): Show CCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCAACC CCGCGGTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0139 a0001c0002t0001g0139	1	378	0.0027	109	c.21 others(120): Show c.2172_*2173insAGAACCGCGGGGTTGGGGTTGGGGTTGGGGTTGG GGTTGGGAGAACCGCGGGGTTGGGAGAACCGCGGGGTTGGGAGAACCGCG GGGTTGGGAGAACCGCGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1490		chr16	TogoVar
B3GNTL1_chr17_82937149_83056770	82971776	A A	ACAGGGGC others(102): Show ACAGGGGCTAGAAGGACCTGGTGCCGACACACCACACCAGGGGCCAGAAG GACCTGGTGCCGACCACACCACACCACAGGCCAGAAGGACCTGGAGCCGA CACACCACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0197 a0001c0003t0034g0197	1	266	0.0038	109	c.460 others(126): Show c.460-6031_460-6030insGTGTGGTGTGTCGGCTCCAGGTCCTTCT GGCCTGTGGTGTGGTGTGGTCGGCACCAGGTCCTTCTGGCCCCTGGTGTG GTGTGTCGGCACCAGGTCCTTCTAGCCCCTG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
B3GNTL1_chr17_82937149_83056770	83032189	A A	ACCAGGTC others(102): Show ACCAGGTCAGACCAGGCCAGGCCTCCGACCCAGACCGAGCTCCGGAGCTG AACAACCAGGTCAGACCAGGCCAGGCCTCCGACGCAGACCGAACTCGGGA GCTGAACAAC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0121 a0002c0009t0003g0121	1	266	0.0038	109	c.297 others(126): Show c.297+2845_297+2846insGTTGTTCAGCTCCCGAGTTCGGTCTGCG TCGGAGGCCTGGCCTGGTCTGACCTGGTTGTTCAGCTCCGGAGCTCGGTC TGGGTCGGAGGCCTGGCCTGGTCTGACCTGG	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	375112	G G	GGAGGGAG others(102): Show GGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGAGGAAGGGAGGGAG GAGGAAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0017 a0017	a0017c0025 a0017c0025	a0017c0025t0001 a0017c0025t0001	a0017c0025t0001g0110 a0017c0025t0001g0110	1	184	0.0054	109	c.784 others(124): Show c.784-348_784-347insAGGGAGGTGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAG GGAGAGGAAGGGAGGGAGGAGGAAGGGAG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BDH1_chr3_197504783_197560968	197517936	C C	CCCCCCCA others(102): Show CCCCCCCATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCTCATCAGGC TGACCCCCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTC AGGCCGACTG	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18964.hp1 HG00597.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0058 a0001c0001t0166 a0001c0001t0058 a0001c0001t0166	a0001c0001t0058g0164 a0001c0001t0166g0120 a0001c0001t0058g0164 a0001c0001t0166g0120	2	319	0.0063	109	c.410 others(126): Show c.410-3521_410-3520insCAGTCGGCCTGAGGGGGGATGGAGACCA TAGAGCAGGAAGTGACTGATTGGGGGGGGTCAGCCTGATGAGGAGATGGA GACCATAGAGCAGGAAGTGACTGATGGGGGG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197517942	A A	ATCAGTCA others(102): Show ATCAGTCACTTCCTGCTCTATGGTCTCCATCTCCTCATCAGGCTGACCCC CCCCCAATCAGTCACTTCCTGCTCTATGGTCTCCATCCCCCCTCAGGCCG ACTGCCCCCC	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0075 a0001c0001t0004g0075	1	319	0.0031	109	c.410 others(126): Show c.410-3527_410-3526insGGGGGGCAGTCGGCCTGAGGGGGGATGG AGACCATAGAGCAGGAAGTGACTGATTGGGGGGGGGTCAGCCTGATGAGG AGATGGAGACCATAGAGCAGGAAGTGACTGA	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BDH1_chr3_197504783_197560968	197518183	T T	TCTCCATC others(102): Show TCTCCATCTTCCCCTCAGGCTGACCCCCCCAATCAGTCACTTCCTGCTCT ATGGTCTCCATCTCCCCCTCAGGCTGACCCCCCCCAATCAGTCACTTCCT GCTCTATGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0061 a0005c0007t0061	a0005c0007t0061g0052 a0005c0007t0061g0052	1	319	0.0031	109	c.410 others(126): Show c.410-3768_410-3767insTCCATAGAGCAGGAAGTGACTGATTGGG GGGGGTCAGCCTGAGGGGGAGATGGAGACCATAGAGCAGGAAGTGACTGA TTGGGGGGGTCAGCCTGAGGGGAAGATGGAG	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	6/7			chr3	TogoVar
BEST3_chr12_69648609_69704303	69665000	C C	CTAAAAGG others(102): Show CTAAAAGGGATGCCAAGTCACACAGTGGACAGCACTACAGCGAACACCAG AGGGAGTCTTAATGGCTCTGTCCAAACAAGGCCAGGGTACAGCAGCAAAG TGAAATTCAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02615.hp1 HG02622.hp2 others(4): Show HG00639.hp1 HG02615.hp1 HG02622.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0101 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0010g0314	7	366	0.0191	109	c.110 others(128): Show c.1100+6319_1100+6427dupCTGAATTTCACTTTGCTGCTGTACCC TGGCCTTGTTTGGACAGAGCCATTAAGACTCCCTCTGGTGTTCGCTGTAG TGCTGTCCACTGTGTGACTTGGCATCCCTTTTA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9			chr12	TogoVar
BEST3_chr12_69648609_69704303	69665016	G G	GTCACACA others(102): Show GTCACACAGTGGACAGCACTACAGCGAACACCAGAGGGAGTCTTAATGGC TCTGTCCAAACAAGGCCAGGGTACAGCAGCAAAGTGAAATTCAGTAAAAG GGATGCCAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	366	0.0027	109	c.110 others(128): Show c.1100+6411_1100+6412insTTTGGCATCCCTTTTACTGAATTTCA CTTTGCTGCTGTACCCTGGCCTTGTTTGGACAGAGCCATTAAGACTCCCT CTGGTGTTCGCTGTAGTGCTGTCCACTGTGTGA	BEST3	ENSG00000127325.19	transcript	ENST00000330891.10	protein_coding	9/9			chr12	TogoVar
BPIFC_chr22_32408845_32469446	32424692	C C	CTTCTTCT others(102): Show CTTCTTCTTCTTCTTCTTCTTCTCCTCCTCCTCCTCCTCCTCCTCCCCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCT TCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	422	0.0024	109	c.121 others(128): Show c.1218-5289_1218-5288insAAGAAGAAGAAGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAGGA GGAGGAGGAGGAGAAGAAGAAGAAGAAGAAGAA	BPIFC	ENSG00000184459.10	transcript	ENST00000300399.9	protein_coding	13/16			chr22	TogoVar

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Search Results (Total: 10000 hits)