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
ABCC4_chr13_95014835_95306451	95244652	A A	AGAAAGGA others(98): Show AGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0006 a0001c0013t0006	a0001c0013t0006g0031 a0001c0013t0006g0031	1	248	0.0040	105	c.306 others(122): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCGTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTTC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABCC4_chr13_95014835_95306451	95244652	A A	AGGAAGGA others(98): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAGGAAGGAAGGAAGGAAGGAACGAAGGAAGGAAGGAAGGAAGGA AGGAAG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0023 a0001c0003t0002g0023	1	248	0.0040	105	c.306 others(122): Show c.306+2322_306+2323insCTTCCTTCCTTCCTTCCTTCCTTCCTTC GTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCC	ABCC4	ENSG00000125257.16	transcript	ENST00000645237.2	protein_coding	3/30			chr13	TogoVar
ABHD18_chr4_127960406_128044953	128028300	G G	GGATTTCC others(98): Show GGATTTCCTTTTAAGGAATCCTTTTATTTATTTATTTATTTATTTATTTA TTTATTTATTATTTATTATTTATTTATTTATTTATTTATTATTATTTATT TATTTA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0264 a0001c0001t0025g0264	1	344	0.0029	105	c.802 others(120): Show c.802-175_802-174insGATTTCCTTTTAAGGAATCCTTTTATTTAT TTATTTATTTATTTATTTATTTATTTATTATTTATTATTTATTTATTTAT TTATTTATTATTATTTATTTATTTA	ABHD18	ENSG00000164074.17	transcript	ENST00000645843.2	protein_coding	10/12			chr4	TogoVar
ABR_chr17_998519_1184981	1072355	G G	GTGCCGCC others(98): Show GTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGT GAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACGA GGGACC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG02818.hp2 others(3): Show HG00280.hp2 HG00323.hp1 HG02818.hp2 NA18950.hp2 NA18955.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0087 a0001c0001t0001g0194 a0001c0001t0001g0195 others(3): Show a0001c0001t0001g0087 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0006g0086 a0001c0001t0006g0096 a0001c0001t0007g0280	6	337	0.0178	105	c.894 others(120): Show c.894+154_894+258dupGGTCCCTCGTCCCCTTCTCTCACACACGGG CGGCAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGT CCCCTTCTCTCACACACGGGCGGCA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1072564	C C	CCTGCCGC others(98): Show CCTGCCGCCCGTGTGTGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTG TGAGAGAAGGGGACGAGGGACCTGCCGCCCGTGTGTGAGAGAAGGGGACG AGGGAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0085 a0001c0001t0002g0085	1	337	0.0030	105	c.894 others(118): Show c.894+49_894+50insATCCCTCGTCCCCTTCTCTCACACACGGGCGG CAGGTCCCTCGTCCCCTTCTCTCACACACGGGCGGCAGGTCCCTCGTCCC CTTCTCTCACACACGGGCGGCAG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	8/22			chr17	TogoVar
ABR_chr17_998519_1184981	1163555	A A	AAAGTGTC others(98): Show AAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACCCCAGATAAACT GCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGGTAGGACAGACC CTGGCC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp2 HG01261.hp2 others(2): Show HG00733.hp2 HG01099.hp2 HG01261.hp2 HG03669.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0082 a0001c0001t0001g0135 a0001c0001t0002g0081 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0135 a0001c0001t0002g0081 a0001c0001t0003g0060 a0001c0001t0004g0268	5	337	0.0148	105	c.61+ others(122): Show c.61+16111_61+16112insGGCCAGGGTCTGTCCTACCTAGATGCTC CGACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGT CTGGATTCAGTGCTGTGTGTGACACTT	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ABR_chr17_998519_1184981	1163995	G G	GCCCCAGA others(98): Show GCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGGATCT AGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACG CAGGGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA19060.hp1 NA18940.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0158 a0001c0001t0006g0206 a0001c0001t0001g0158 a0001c0001t0006g0206	2	337	0.0059	105	c.61+ others(122): Show c.61+15671_61+15672insTCCCTGCGTCTGGATTCAGTGCTGTGTG TGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACACA_chr17_37079992_37411836	37099530	A A	AGGAGGGC others(98): Show AGGAGGGCTGATGGGAGGAGGGCTGATGGCGGGAGGGCTGAGGGATGGAG GGCTGATGGCGGGAGGGCTGATGGCGGGAGGGCTGATGGCAGGAGGGCTG ATGGCG	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 NA18966.hp1 others(6): Show HG03491.hp2 HG03492.hp2 NA18966.hp1 NA18970.hp1 NA18980.hp2 NA18991.hp1 NA18999.hp1 NA19068.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0003 a0001c0007t0003 a0001c0001t0003 a0001c0007t0003	a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 others(6): Show a0001c0001t0003g0112 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0145 a0001c0001t0003g0181 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0007t0003g0067	9	299	0.0301	105	c.656 others(124): Show c.6566-1547_6566-1546insCGCCATCAGCCCTCCTGCCATCAGCC CTCCCGCCATCAGCCCTCCCGCCATCAGCCCTCCATCCCTCAGCCCTCCC GCCATCAGCCCTCCTCCCATCAGCCCTCC	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	52/55			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75967671	C C	CGTATATA others(98): Show CGTATATATACACGTATATATATATACTATATATATACGTGTATATATAT ATACATATATATATACACGTGTATATATATACACGTATATATATATACAC GTATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0310 a0001c0001t0005g0310	1	344	0.0029	105	c.270 others(122): Show c.270-7297_270-7296insATATACGTGTATATATATATACGTGTAT ATATATACACGTGTATATATATATGTATATATATATACACGTATATATAT AGTATATATATATACGTGTATATATAC	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACOX1_chr17_75936507_75984166	75967671	C C	CGTATATA others(98): Show CGTATATATACACGTATATATATATACTATATATATACGTGTATATATAT ATACATATATATATACACGTGTATATATATACGTATATATATATACACGT ATATAT	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19240.hp1 HG01934.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0054 a0001c0001t0002 a0003c0005t0054	a0001c0001t0002g0314 a0003c0005t0054g0315 a0001c0001t0002g0314 a0003c0005t0054g0315	2	344	0.0058	105	c.270 others(122): Show c.270-7297_270-7296insATATATACGTGTATATATATATACGTAT ATATATACACGTGTATATATATATGTATATATATATACACGTATATATAT AGTATATATATATACGTGTATATATAC	ACOX1	ENSG00000161533.12	transcript	ENST00000293217.10	protein_coding	2/13			chr17	TogoVar
ACSM2B_chr16_20531226_20581367	20566658	A A	AGTATATA others(98): Show AGTATATATATACTATATATACTATATATACTATATATAATATATACTAT ATATAGTATATATACTATATATAGTATATACTATATATACTATATATAGT ATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0122 a0003c0008t0003g0122	1	388	0.0026	105	c.-8- others(120): Show c.-8-1806_-8-1805insATATATACTATATATAGTATATATAGTATA TACTATATATAGTATATATACTATATATAGTATATATTATATATAGTATA TATAGTATATATAGTATATATATAC	ACSM2B	ENSG00000066813.14	transcript	ENST00000329697.10	protein_coding	1/13			chr16	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCAGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp1 NA18993.hp2 NA19010.hp2 others(3): Show NA18970.hp1 NA18993.hp2 NA19010.hp2 NA19011.hp2 NA19012.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0001t0004g0265 others(3): Show a0001c0001t0004g0255 a0001c0001t0004g0262 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0267 a0001c0001t0004g0285	6	314	0.0191	105	c.64 others(116): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC AGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGC GGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735883	G G	GGGGCGGG others(98): Show GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGGGCGGGGCGGTGG TTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGG TTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02071.hp1 HG02132.hp2 others(5): Show HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02738.hp2 HG03831.hp2 HG03942.hp1 HG04184.hp1 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0019 a0001c0001t0004 a0001c0001t0006 a0001c0001t0019	a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0263 others(5): Show a0001c0001t0004g0257 a0001c0001t0004g0260 a0001c0001t0004g0263 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0019g0297	8	314	0.0255	105	c.64 others(116): Show c.6451_*6452insGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGC GGGGCGGGGCGGTGGTTCTGCGGGCGGGGCGGGGCGGTGGTTCTGCGGGC GGGGCGGGGCGGTGGTTCTGC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4295		chr19	TogoVar
ACYP2_chr2_53966113_54310300	54197935	A A	ATGTATTG others(98): Show ATGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA TTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTA TTGTAT	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	272	0.0037	105	c.404 others(124): Show c.404+59193_404+59194insGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACYP2_chr2_53966113_54310300	54197942	A A	ATATTGTA others(98): Show ATATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATT GTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATT GTATTG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0018 a0001c0002t0002g0018	1	272	0.0037	105	c.404 others(124): Show c.404+59288_404+59289insGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTGTATTG TATTGTATTGTATTGTATTGTATTGTATT	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADAMTS3_chr4_72275969_72574221	72400324	G G	GTGTATAT others(98): Show GTGTATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACG GTGTGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACG TGTGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02523.hp1 HG02027.hp2 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0140 a0001c0001t0001g0141	2	182	0.0110	105	c.661 others(124): Show c.661+14490_661+14491insTGCACACGTATATATACACACCGTGT GTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGCACA CGTATATATACACACCGTGTGTATATACA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADAMTS3_chr4_72275969_72574221	72400327	T T	TATATACA others(98): Show TATATACACACGGTGTGTATATATACGTGTGCATAGATATACACACGGTG TGTATATATACGTGTGCATAGATATACACACGGTGTGTATATATACGTGT GCATAG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG03834.hp1 others(12): Show HG00140.hp2 HG00408.hp2 HG03834.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18960.hp1 NA18995.hp1 NA18998.hp1 NA19007.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0002c0002t0002	a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0052 others(12): Show a0001c0001t0002g0034 a0001c0001t0002g0043 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0003g0044 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0142 a0001c0001t0005g0016 a0001c0001t0016g0013 a0002c0002t0002g0055	15	182	0.0824	105	c.661 others(124): Show c.661+14487_661+14488insCTATGCACACGTATATATACACACCG TGTGTATATCTATGCACACGTATATATACACACCGTGTGTATATCTATGC ACACGTATATATACACACCGTGTGTATAT	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	4/21			chr4	TogoVar
ADARB2_chr10_1172313_1742525	1327233	G G	GGCACAGC others(98): Show GGCACAGCGCCTCCCCACGGCACAGCGCCTCCCCACTGCCCAGCGCCTCC CCACTGCCCAGCGCCTCCCCACGGCCCAGCGCCTCCCCACGGCACAGCGC CTCACT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0070 a0001c0003t0001g0070	1	106	0.0094	105	c.107 others(126): Show c.1077+35794_1077+35795insAGTGAGGCGCTGTGCCGTGGGGAG GCGCTGGGCCGTGGGGAGGCGCTGGGCAGTGGGGAGGCGCTGGGCAGTGG GGAGGCGCTGTGCCGTGGGGAGGCGCTGTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	3/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1575976	A A	AGGGGGGC others(98): Show AGGGGGGCTCAGGGCCACGGGAGGGGGTTCAGGATCCATGGGAGGGGGCT CAGAGCCCCCTATCCAATAGGATAAGCCTATTGGAGGGGGTTCAAGGCCA CTGGAG	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0079 a0001c0001t0035g0079	1	106	0.0094	105	c.100 others(126): Show c.100+161074_100+161075insCTCCAGTGGCCTTGAACCCCCTCC AATAGGCTTATCCTATTGGATAGGGGGCTCTGAGCCCCCTCCCATGGATC CTGAACCCCCTCCCGTGGCCCTGAGCCCCCC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1672735	G G	GCTCCTGC others(98): Show GCTCCTGCCTCCCTCCACGCACGCACTTCCCTTTCCTCCTTCCAGGCCCC CCGCCTGCCTCCTCCACGCACCGCAAGGCTCCTGCCTCCCTCCACGCATG GAAAGT	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18983.hp2 NA18984.hp2 others(3): Show HG03540.hp1 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA19011.hp1 NA20805.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0008	a0001c0001 a0002c0004 a0005c0015 others(1): Show a0001c0001 a0002c0004 a0005c0015 a0008c0013	a0001c0001t0010 a0001c0001t0035 a0001c0001t0057 others(3): Show a0001c0001t0010 a0001c0001t0035 a0001c0001t0057 a0002c0004t0028 a0005c0015t0014 a0008c0013t0020	a0001c0001t0010g0013 a0001c0001t0035g0079 a0001c0001t0057g0103 others(3): Show a0001c0001t0010g0013 a0001c0001t0035g0079 a0001c0001t0057g0103 a0002c0004t0028g0020 a0005c0015t0014g0008 a0008c0013t0020g0037	6	106	0.0566	105	c.100 others(124): Show c.100+64315_100+64316insACTTTCCATGCGTGGAGGGAGGCAGG AGCCTTGCGGTGCGTGGAGGAGGCAGGCGGGGGGCCTGGAAGGAGGAAAG GGAAGTGCGTGCGTGGAGGGAGGCAGGAG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113412849	G G	GCAGAACT others(98): Show GCAGAACTCGGTTCACCCACCGCCAACAGTACCCCACAGAACTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC ACCCCA	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA20905.hp2 NA18999.hp1 NA20905.hp2	a0013 a0014 a0013 a0014	a0013c0016 a0014c0048 a0013c0016 a0014c0048	a0013c0016t0014 a0014c0048t0037 a0013c0016t0014 a0014c0048t0037	a0013c0016t0014g0100 a0014c0048t0037g0127 a0013c0016t0014g0100 a0014c0048t0037g0127	2	262	0.0076	105	c.106 others(124): Show c.1062-4630_1062-4629insTGGGGTGCTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGTTCTGTGGGGT ACTGTTGGCGGTGGGTGAACCGAGTTCTG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113412849	G G	GCAGAACT others(98): Show GCAGAACTCGGTTCACCCACCGCCAACAGTACCCCACAGAGCTCGGTTCA CCCACCGCCAACAGCGCCCCGCAGAGCTCGGTTCACCCACCGCCAACAGC ACCCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0014 a0013c0016t0014	a0013c0016t0014g0101 a0013c0016t0014g0101	1	262	0.0038	105	c.106 others(124): Show c.1062-4630_1062-4629insTGGGGTGCTGTTGGCGGTGGGTGAAC CGAGCTCTGCGGGGCGCTGTTGGCGGTGGGTGAACCGAGCTCTGTGGGGT ACTGTTGGCGGTGGGTGAACCGAGTTCTG	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
ADSS1_chr14_104719229_104752310	104720443	T T	TCTCGTGT others(98): Show TCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGC GTCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0220 a0001c0002t0001g0220	1	402	0.0025	105	c.-38 others(116): Show c.-3828_-3827insCTCGTGTGGATGCTGCTGTGCACGTCTGCGTCGT CCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCT GCTGTGGACGTCTGCGTCGTC	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3785		chr14	TogoVar
ADSS1_chr14_104719229_104752310	104720601	C C	CACGTCTG others(98): Show CACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTCCTCGTGTGGATGCTG CTGTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	402	0.0025	105	c.-36 others(116): Show c.-3670_-3669insACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTG GACGTCTGCGTCGTCCTCGTGTGGATGCTGCTGTGGACGTCTGCGTCGTC CTCGTGTGGATGCTGCTGTGG	ADSS1	ENSG00000185100.12	transcript	ENST00000330877.7	protein_coding		3627		chr14	TogoVar
AHNAK2_chr14_104932253_104983374	104934036	C C	CGGCTGAG others(98): Show CGGCTGAGGGGACGGGGAGGGCGGGAGGCGACCCGGGGCTGAGGGGACGG GGAGGGCGGGAGGCGACCCGGGGCTGAGGGGACGGGGAGGGCGGGAGGCG ACCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 NA20129.hp1 HG03195.hp2 NA20129.hp1	a0069 a0080 a0069 a0080	a0069c0184 a0080c0180 a0069c0184 a0080c0180	a0069c0184t0002 a0080c0180t0002 a0069c0184t0002 a0080c0180t0002	a0069c0184t0002g0209 a0080c0180t0002g0181 a0069c0184t0002g0209 a0080c0180t0002g0181	2	356	0.0056	105	c.40 others(116): Show c.4026_*4027insCCGGGTCGCCTCCCGCCCTCCCCGTCCCCTCAGC CCCGGGTCGCCTCCCGCCCTCCCCGTCCCCTCAGCCCCGGGTCGCCTCCC GCCCTCCCCGTCCCCTCAGCC	AHNAK2	ENSG00000185567.7	transcript	ENST00000333244.6	protein_coding		3216		chr14	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATATATATGTATGTATATATATATATATATATGTGTGTGTATA TATATGTATACATATATATATGTGTGTGTATATATATGTATATATATATA TATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0043 a0009c0011t0043	a0009c0011t0043g0132 a0009c0011t0043g0132	1	314	0.0032	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATATATATGTATGTATAT ATATATATATATATGTGTGTGTATATATATGTATACATATATATATGTGT GTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATATATGTATGTATATATATATATATATATATGTGTGTGTATA TATATGTATACATATATATATGTGTGTGTATATATATGTATATATATATA TATATA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0048 a0002c0001t0048	a0002c0001t0048g0164 a0002c0001t0048g0164	1	314	0.0032	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATATATGTATGTATATAT ATATATATATATATGTGTGTGTATATATATGTATACATATATATATGTGT GTGTATATATATGTATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(98): Show TATATATATGTATGTATATATATATATATATATATGTGTGTGTATATATA TGTATACATATATATATGTGTGTGTATATATATGTATATATATATATATA TATATA	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0060 a0002c0001t0060	a0002c0001t0060g0055 a0002c0001t0060g0055	1	314	0.0032	105	c.416 others(126): Show c.4162-25661_4162-25660insATATATATGTATGTATATATATAT ATATATATATGTGTGTGTATATATATGTATACATATATATATGTGTGTGT ATATATATGTATATATATATATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKR1D1_chr7_138071459_138123305	138091926	A A	AACCATGA others(98): Show AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATA GCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAG CTCTGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02615.hp1 HG02886.hp2 others(2): Show HG02109.hp1 HG02615.hp1 HG02886.hp2 HG03579.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0030 a0001c0001t0031 a0001c0001t0013 a0001c0001t0030 a0001c0001t0031	a0001c0001t0013g0108 a0001c0001t0013g0360 a0001c0001t0013g0361 others(2): Show a0001c0001t0013g0108 a0001c0001t0013g0360 a0001c0001t0013g0361 a0001c0001t0030g0353 a0001c0001t0031g0116	5	426	0.0117	105	c.378 others(119): Show c.378+74_378+178dupCTGCACCATGAGCCAATAGCTATGTGCATGA AGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGA GCCAATAGCTATGTGCATGAAGCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138091932	G G	GAGCCAAT others(98): Show GAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATG TGCATGAAGCTCTGCACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02809.hp1 others(2): Show HG02258.hp1 HG02615.hp2 HG02809.hp1 HG03098.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0035 a0001c0001t0063 a0001c0001t0020 a0001c0001t0035 a0001c0001t0063	a0001c0001t0020g0316 a0001c0001t0020g0317 a0001c0001t0020g0318 others(2): Show a0001c0001t0020g0316 a0001c0001t0020g0317 a0001c0001t0020g0318 a0001c0001t0035g0213 a0001c0001t0063g0260	5	426	0.0117	105	c.378 others(120): Show c.378+152_378+153insCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATGAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAG CTATGTGCATGAAGCTCTGCACCAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKR1D1_chr7_138071459_138123305	138091967	G G	GAGCCAAT others(98): Show GAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAGCTATG TGCATGAAGCTCTGCACCATCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0348 a0001c0001t0035g0348	1	426	0.0024	105	c.378 others(120): Show c.378+152_378+153insCAGCCAATAGCTATGTGCATGAAGCTCTGC ACCATCAGCCAATAGCTATGTGCATGAAGCTCTGCACCATGAGCCAATAG CTATGTGCATGAAGCTCTGCACCAT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
ALLC_chr2_3653200_3707671	3690402	C C	CCCCTCCC others(98): Show CCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCC TCCCCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0030 a0002c0013t0002g0030	1	274	0.0037	105	c.512 others(122): Show c.512-5312_512-5311insTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALX3_chr1_110054870_110075672	110062610	T T	TGTGTGTG others(98): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGCGCGCGCGTGCGCGCGCGCGCG CTGGGAGTCACAACAGAAGAAAGCTGTGTGTGTGTGTGTGTCACAACAGA AGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0106 a0001c0001t0003g0106	1	422	0.0024	105	c.595 others(122): Show c.595-1048_595-1047insCTTTCTTCTGTTGTGACACACACACACA CACAGCTTTCTTCTGTTGTGACTCCCAGCGCGCGCGCGCGCACGCGCGCG CACACACACACACACACACACACACAC	ALX3	ENSG00000156150.9	transcript	ENST00000647563.2	protein_coding	2/3			chr1	TogoVar
AMPH_chr7_38378704_38636373	38441770	G G	GATATATA others(98): Show GATATATATCATATATCTATCATATATATGATATATATCATATATCTATC ATATATATCATATATCTGATATATATCATATATCTGATATATATCATATA TCTATC	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	288	0.0035	105	c.101 others(124): Show c.1018-5383_1018-5382insGATAGATATATGATATATATCAGATA TATGATATATATCAGATATATGATATATATGATAGATATATGATATATAT CATATATATGATAGATATATGATATATAT	AMPH	ENSG00000078053.17	transcript	ENST00000356264.7	protein_coding	11/20			chr7	TogoVar
ANKRD24_chr19_4177689_4229814	4193846	A A	AGGGAGGG others(98): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGG AGGGAG	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18983.hp2 NA18955.hp2 NA18983.hp2	a0002 a0004 a0002 a0004	a0002c0031 a0004c0004 a0002c0031 a0004c0004	a0002c0031t0002 a0004c0004t0002 a0002c0031t0002 a0004c0004t0002	a0002c0031t0002g0266 a0004c0004t0002g0288 a0002c0031t0002g0266 a0004c0004t0002g0288	2	356	0.0056	105	c.37- others(120): Show c.37-5835_37-5834insGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGGGAGGGAGGGAGGGAGGG	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	2/21		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO2_chr12_5557655_5950259	5902845	G G	GGGGAGGA others(98): Show GGGGAGGAGAGGGGAGGGGAGGGGAGGAGCGGGGAGGGGAGGAGAAGGGA GGGGAGGGGAGGAGAAGGGAGGGGAGGGGAGGAGAAGGGAGGGGAGGGGA GGAGAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0009 a0009	a0009c0026 a0009c0026	a0009c0026t0001 a0009c0026t0001	a0009c0026t0001g0047 a0009c0026t0001g0047	1	162	0.0062	105	c.534 others(124): Show c.534+18194_534+18195insTTCTCCTCCCCTCCCCTCCCTTCTCC TCCCCTCCCCTCCCTTCTCCTCCCCTCCCCTCCCTTCTCCTCCCCTCCCC GCTCCTCCCCTCCCCTCCCCTCTCCTCCC	ANO2	ENSG00000047617.18	transcript	ENST00000682330.1	protein_coding	3/24			chr12	TogoVar
APOB_chr2_20996429_21049073	21001236	T T	TTAATTAT others(98): Show TTAATTATAAATATTTTAATTATAAAATATTTAATTATAAATATTTTAAT TATAAAAATTTTAATTATAAAATATTTAATTATAAATATTTTAATTATAA AATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0220 a0005c0004t0001g0220	1	350	0.0029	105	c.49 others(114): Show c.493_*494insCATATTTTATAATTAAAATATTTATAATTAAATATT TTATAATTAAAATTTTTATAATTAAAATATTTATAATTAAATATTTTATA ATTAAAATATTTATAATTA	APOB	ENSG00000084674.15	transcript	ENST00000233242.5	protein_coding		192		chr2	TogoVar
ARFRP1_chr20_63693647_63712976	63693651	T T	TCCACCAC others(98): Show TCCACCACCACCACCTCCACCACCACCTCCACCACCACCTCCACCTCCAC CACCACCACCTGCACCACCACCTCCACCTCCACCACCACCACCACCTCCA CCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	296	0.0034	105	c.67 others(116): Show c.6791_*6792insTGGAGGTGGAGGTGGTGGTGGTGGTGGAGGTGGA GGTGGTGGTGCAGGTGGTGGTGGTGGAGGTGGAGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGTGG	ARFRP1	ENSG00000101246.20	transcript	ENST00000622789.5	protein_coding		4995		chr20	TogoVar
ARHGAP35_chr19_46855997_47010077	46879587	A A	AAAATAAA others(98): Show AAAATAAATAAATAAATAAAGGTTGCAGTGAGCCAAGATCGCGCCACTGC ACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAATAAATAA ATAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00639.hp1 others(19): Show HG00099.hp2 HG00280.hp2 HG00639.hp1 HG00642.hp2 HG01257.hp1 HG01928.hp1 HG02027.hp1 HG02056.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG04204.hp2 NA18906.hp2 NA18953.hp2 NA18962.hp1 NA18971.hp1 NA18982.hp2 NA18994.hp1 NA19007.hp2 NA19057.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0004 a0001c0001 a0001c0009 a0002c0004	a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 others(6): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0045 a0001c0001t0047 a0001c0009t0010 a0002c0004t0003	a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 others(19): Show a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 a0001c0001t0003g0031 a0001c0001t0003g0048 a0001c0001t0003g0054 a0001c0001t0003g0065 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0007g0019 a0001c0001t0010g0035 a0001c0001t0010g0052 a0001c0001t0013g0047 a0001c0001t0013g0049 a0001c0001t0013g0223 a0001c0001t0018g0040 a0001c0001t0045g0053 a0001c0001t0047g0230 a0001c0009t0010g0228 a0002c0004t0003g0008	22	298	0.0738	105	c.-18 others(126): Show c.-189+18397_-189+18398insGGTTGCAGTGAGCCAAGATCGCGC CACTGCACTCCAGCCAGGACAACAGAGTGAGACTCCATCTCAAAATAAAT AAATAAATAAATAAATAAATAAATAAATAAA	ARHGAP35	ENSG00000160007.20	transcript	ENST00000672722.1	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ARHGAP39_chr8_144524179_144690846	144687049	C C	CCCCGTGA others(98): Show CCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACTCA TTTACAGCGAGCACTTCCCACCCCCGTGACCACTCATTTACAGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	246	0.0041	105	c.-14 others(116): Show c.-1446_-1445insTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGG GGTGGGAAGTGCTCGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCA CCGCTAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1204		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687120	C C	CCCCCGTG others(98): Show CCCCCGTGACCACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCACTGGCGGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	246	0.0041	105	c.-15 others(116): Show c.-1517_-1516insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCAC TGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1275		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687153	C C	CCACCCCG others(98): Show CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCTCACCCCGTGACCACACACTAGCGGTGAGC ACTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0114	1	246	0.0041	105	c.-15 others(116): Show c.-1550_-1549insAGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGT GAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CCAGTGTGTGGTCACGGGGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1308		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCGTGA others(98): Show CCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACGCA CTGGCGGCGAGCACTTCCCACCCCTGTGACCACGCACTGGCGGCGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0002 a0005c0013t0002	a0005c0013t0002g0195 a0005c0013t0002g0195	1	246	0.0041	105	c.-15 others(116): Show c.-1553_-1552insTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACAGG GGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGGTGGGAAGTGCTCG CCGCCAGTGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687192	C C	CCCCGTGA others(98): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACTAGCAGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	246	0.0041	105	c.-15 others(116): Show c.-1589_-1588insTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCG CTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1347		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687476	C C	CCCCGTGA others(98): Show CCCCGTGACCACACATTTACAGTGAGCACTTCCCACCCCCGTGACCACAC ACTGGCGGCGACCATTTCCCACCCCGTGACCACGCACTGGCGGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0063 a0001c0001t0003g0063	1	246	0.0041	105	c.-18 others(116): Show c.-1873_-1872insTGGGAAGTGCTCACCGCCAGTGCGTGGTCACGGG GTGGGAAATGGTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCA CTGTAAATGTGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1631		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687639	T T	TGAGCACT others(98): Show TGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACC CCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACACT GGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	246	0.0041	105	c.-20 others(116): Show c.-2036_-2035insGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1794		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687652	C C	CCCCCGTG others(98): Show CCCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCAC TTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	246	0.0041	105	c.-20 others(116): Show c.-2049_-2048insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCTAGTGTGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1807		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687700	A A	ACACTGGC others(98): Show ACACTGGCGGCGAGCACTTCCCACCCCGTGACCACACATTTACAGTGAGC ACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTG ACCACG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0017 a0001c0007t0001g0017	1	246	0.0041	105	c.-20 others(116): Show c.-2097_-2096insCGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGT GTGTGGTCACGGGGTGGGAAGTGCTCACTGTAAATGTGTGGTCACGGGGT GGGAAGTGCTCGCCGCCAGTG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1855		chr8	TogoVar
ARHGAP6_chrX_11132544_11670920	11590862	A A	AGAAGAGA others(98): Show AGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAG AGAAGAGAAGAGAAGAGAAGAAAAGAAAAGAAAAGAAAAGAAGGAAAGAA GGAAAG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	144	0.0069	105	c.588 others(124): Show c.588+73378_588+73379insCTTTCCTTCTTTCCTTCTTTTCTTTT CTTTTCTTTTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTTCTCTTC	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	1/12			chrX	TogoVar
ARHGEF38_chr4_105547620_105685914	105561459	A A	AGAATGGA others(98): Show AGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAAT GGAATG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0010 a0004c0006t0010	a0004c0006t0010g0139 a0004c0006t0010g0139	1	186	0.0054	105	c.196 others(122): Show c.196+8502_196+8503insGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGAATGGA ATGGAATGGAATGGAATGGAATGGAAT	ARHGEF38	ENSG00000236699.9	transcript	ENST00000420470.3	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr4	TogoVar

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