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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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
ABTB3_chr12_107313434_107664642	107441774	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01169.hp1 HG02818.hp2 HG03139.hp1 HG01169.hp1 HG02818.hp2 HG03139.hp1	a0001 a0003 a0001 a0003	a0001c0011 a0003c0004 a0003c0020 a0001c0011 a0003c0004 a0003c0020	a0001c0011t0004 a0003c0004t0001 a0003c0020t0001 a0001c0011t0004 a0003c0004t0001 a0003c0020t0001	a0001c0011t0004g0051 a0003c0004t0001g0024 a0003c0020t0001g0028 a0001c0011t0004g0051 a0003c0004t0001g0024 a0003c0020t0001g0028	3	186	0.0161	27	c.113 others(48): Show c.1136-78696_1136-78695insAAAAAAAAAAAAAAAAAAAAAAAA AAA	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ABTB3_chr12_107313434_107664642	107508438	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA18983.hp2 HG00099.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0002 a0001c0001t0006 a0001c0003t0002	a0001c0001t0006g0074 a0001c0003t0002g0145 a0001c0001t0006g0074 a0001c0003t0002g0145	2	186	0.0108	27	c.113 others(48): Show c.1136-12045_1136-12019dupTTTTTTTTTTTTTTTTTTTTTTTT TTT	ABTB3	ENSG00000151136.15	transcript	ENST00000280758.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(20): Show ATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0153 a0001c0004t0005g0153	1	299	0.0033	27	c.507 others(46): Show c.5079+5239_5079+5240insAAAAATATATATATATATATATATAT A	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174020	A A	ATATATAT others(20): Show ATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0118 a0001c0004t0005g0118	1	299	0.0033	27	c.507 others(46): Show c.5079+5239_5079+5240insAAAAAAAAATATATATATATATATAT A	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37174021	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0249 a0001c0002t0001g0249	1	299	0.0033	27	c.507 others(46): Show c.5079+5238_5079+5239insTATATATATATATATATATATATATA T	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	41/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(20): Show TTTTATATATATATATATTATATATATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	299	0.0033	27	c.38+ others(44): Show c.38+15957_38+15958insTATATATATAATATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACA_chr17_37079992_37411836	37390304	T T	TTTTATAT others(20): Show TTTTATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	299	0.0033	27	c.38+ others(44): Show c.38+15957_38+15958insTATATATATATAATATATATATATAAA	ACACA	ENSG00000278540.5	transcript	ENST00000616317.5	protein_coding	1/55			chr17	TogoVar
ACACB_chr12_109111587_109273226	109167621	G G	GATATATA others(20): Show GATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0158 a0003c0001t0001g0158	1	308	0.0033	27	c.787 others(42): Show c.787-275_787-274insATATATATATATATATATATATATATA	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	3/52			chr12	TogoVar
ACADM_chr1_75719709_75768679	75753795	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0294 a0001c0004t0005g0294	1	364	0.0028	27	c.945 others(44): Show c.945+3268_945+3269insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACADM	ENSG00000117054.15	transcript	ENST00000370841.9	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289847	G G	GTCTCTGC others(20): Show GTCTCTGCTCCGTCCCCCGTGTCTCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	295	0.0034	27	c.37 others(38): Show c.3716_*3717insGCAGAGACACGGGGGACGGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2543		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289848	T T	TCTCTGCC others(20): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp1 NA19081.hp2 HG02004.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0115 a0001c0001t0002g0132 a0001c0001t0002g0115 a0001c0001t0002g0132	2	295	0.0068	27	c.37 others(38): Show c.3715_*3716insGGCAGAGACACGGGGGACGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2542		chr1	TogoVar
ACAT1_chr11_108116567_108152603	108131354	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01123.hp1 HG02071.hp2 others(12): Show HG00733.hp1 HG01123.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02155.hp2 HG03139.hp1 HG03654.hp2 HG03669.hp2 HG04115.hp1 HG04115.hp2 NA18941.hp2 NA18945.hp2 NA18984.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0002c0002t0002 a0001c0001t0001 a0001c0001t0006 a0002c0002t0002	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0105 others(12): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0156 a0001c0001t0006g0059 a0002c0002t0002g0226 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0282 a0002c0002t0002g0305	15	386	0.0389	27	c.73- others(40): Show c.73-535_73-534insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACAT1	ENSG00000075239.14	transcript	ENST00000265838.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
ACBD5_chr10_27190214_27245797	27228815	A A	ATATATAT others(20): Show ATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	384	0.0026	27	c.375 others(44): Show c.375+2932_375+2933insAAAAAAAAAAAAAAATATATATATATA	ACBD5	ENSG00000107897.20	transcript	ENST00000396271.8	protein_coding	4/12			chr10	TogoVar
ACER2_chr9_19404009_19457505	19427652	C C	CTTCTCTT others(20): Show CTTCTCTTCTCTTCTCTTCTCTTCTCTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01884.hp2 HG01891.hp1 others(3): Show HG00639.hp1 HG01884.hp2 HG01891.hp1 HG02572.hp1 HG02976.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0005 a0001c0003t0018 a0001c0001t0002 a0001c0003t0005 a0001c0003t0018	a0001c0001t0002g0127 a0001c0001t0002g0308 a0001c0003t0005g0080 others(3): Show a0001c0001t0002g0127 a0001c0001t0002g0308 a0001c0003t0005g0080 a0001c0003t0005g0128 a0001c0003t0005g0129 a0001c0003t0018g0303	6	358	0.0168	27	c.365 others(44): Show c.365+2828_365+2829insCTCTTCTCTTTTCTCTTCTCTTCTCTT	ACER2	ENSG00000177076.6	transcript	ENST00000340967.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
ACLY_chr17_41861918_41923951	41900069	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0282 a0002c0002t0003g0282	1	294	0.0034	27	c.118 others(46): Show c.1184-1311_1184-1285dupTTTTTTTTTTTTTTTTTTTTTTTTTT T	ACLY	ENSG00000131473.17	transcript	ENST00000352035.7	protein_coding	11/28			chr17	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(20): Show ATTATTATTATTATTATTATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0351 a0001c0001t0001g0351	1	382	0.0026	27	c.850 others(46): Show c.850-12093_850-12092insATTATTATTATTATTATTTTTTTTTT T	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(20): Show ATTATTATTATTATTATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0356 a0001c0001t0001g0356	1	382	0.0026	27	c.850 others(46): Show c.850-12093_850-12092insATTATTATTATTATTTTTTTTTTTTT T	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134886246	A A	ATTATTAT others(20): Show ATTATTATTATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0353 a0001c0001t0001g0353	1	382	0.0026	27	c.850 others(46): Show c.850-12093_850-12092insATTATTATTTTTTTTTTTTTTTTTTT T	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
ACMSD_chr2_134833616_134907034	134895316	A A	ATATATAT others(20): Show ATATATATATGTTACATATATAATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	382	0.0026	27	c.850 others(44): Show c.850-3025_850-3024insTATATATATGTTACATATATAATATAT	ACMSD	ENSG00000153086.14	transcript	ENST00000356140.10	protein_coding	8/9			chr2	TogoVar
ACOD1_chr13_76943511_76963638	76944257	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0005 a0001c0002t0001g0005	1	434	0.0023	27	c.-43 others(38): Show c.-4302_-4301insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACOD1	ENSG00000102794.11	transcript	ENST00000377462.6	protein_coding		4253		chr13	TogoVar
ACOXL_chr2_110727573_111123548	111120979	T T	TGCCGCTG others(20): Show TGCCGCTGCCGCCGCCGCCGCCGCCGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	150	0.0067	27	c.31 others(38): Show c.3163_*3164insGCCGCTGCCGCCGCCGCCGCCGCCGCC	ACOXL	ENSG00000153093.21	transcript	ENST00000439055.6	protein_coding		2432		chr2	TogoVar
ACP3_chr3_132312407_132363841	132349014	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0103 a0001c0003t0006g0103	1	368	0.0027	27	c.782 others(42): Show c.782-906_782-905insACACACACACACACACACACACACACA	ACP3	ENSG00000014257.17	transcript	ENST00000336375.10	protein_coding	7/9			chr3	TogoVar
ACP5_chr19_11569660_11582645	11576006	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG04228.hp1 HG01069.hp2 HG01071.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	3	444	0.0068	27	c.735 others(42): Show c.735+236_735+237insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ACP5	ENSG00000102575.14	transcript	ENST00000648477.1	protein_coding	4/4			chr19	TogoVar
ACP7_chr19_39079368_39116493	39102715	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18984.hp2 NA20300.hp2 HG02280.hp1 NA18984.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0009 a0001c0002 a0001c0005 a0001c0009	a0001c0002t0021 a0001c0005t0010 a0001c0009t0005 a0001c0002t0021 a0001c0005t0010 a0001c0009t0005	a0001c0002t0021g0189 a0001c0005t0010g0144 a0001c0009t0005g0220 a0001c0002t0021g0189 a0001c0005t0010g0144 a0001c0009t0005g0220	3	402	0.0075	27	c.111 others(46): Show c.1113+1180_1113+1181insCTTTCTTTCTTTCTTTCTTTCTTTCT T	ACP7	ENSG00000183760.11	transcript	ENST00000331256.10	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACR_chr22_50733204_50750339	50748639	A A	AGGGGTGT others(20): Show AGGGGTGTGCCCACCTAGACAATCTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	464	0.0022	27	c.34 others(38): Show c.3432_*3433insGGGGTGTGCCCACCTAGACAATCTGAG	ACR	ENSG00000100312.11	transcript	ENST00000216139.10	protein_coding		3301		chr22	TogoVar
ACSBG2_chr19_6130667_6198091	6166280	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0010 a0003c0004t0002g0010	1	262	0.0038	27	c.738 others(42): Show c.738+265_738+266insGTGTGTGTGTGTGTGTGTGTGTGTGTG	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14			chr19	TogoVar
ACSBG2_chr19_6130667_6198091	6166331	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0197 a0003c0012t0002g0197	1	262	0.0038	27	c.738 others(42): Show c.738+316_738+317insGTGTGTGTGTGTGTGTGTGTGTGTGTG	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	7/14			chr19	TogoVar
ACSL5_chr10_112369116_112433376	112423219	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19062.hp1 NA19083.hp2 NA19058.hp1 NA19062.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0280 a0001c0001t0001g0239 a0001c0001t0001g0263 a0001c0001t0001g0280	3	364	0.0082	27	c.159 others(44): Show c.1593+778_1593+779insTATATATATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	364	0.0028	27	c.159 others(44): Show c.1593+781_1593+782insATATATATATATATATATATATATATA	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr10	TogoVar
ACSL5_chr10_112369116_112433376	112423221	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19066.hp1 HG00609.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0287 a0001c0001t0001g0203 a0001c0001t0001g0287	2	364	0.0055	27	c.159 others(44): Show c.1593+780_1593+781insTATATATATATATATATATATATATAT	ACSL5	ENSG00000197142.11	transcript	ENST00000354655.9	protein_coding	17/20			chr10	TogoVar
ACSM5_chr16_20404534_20446336	20431945	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02129.hp1 NA18960.hp2 others(3): Show HG01257.hp2 HG02129.hp1 NA18960.hp2 NA18975.hp2 NA18981.hp2 NA19083.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0234 a0003c0003t0003g0016 a0003c0003t0003g0114 others(2): Show a0003c0003t0001g0234 a0003c0003t0003g0016 a0003c0003t0003g0114 a0003c0003t0003g0137 a0003c0003t0003g0168	6	434	0.0138	27	c.130 others(44): Show c.1308+626_1308+627insTAATAATAATAATAATAATAATAATAA	ACSM5	ENSG00000183549.10	transcript	ENST00000331849.8	protein_coding	10/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACTG2_chr2_73888008_73924865	73923662	A A	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0396 a0001c0003t0001g0396	1	416	0.0024	27	c.40 others(38): Show c.4087_*4088insAGAAAAGAAAAGAAAAGAAAAGAAAAG	ACTG2	ENSG00000163017.14	transcript	ENST00000345517.8	protein_coding		3798		chr2	TogoVar
ACTL6A_chr3_179557926_179593407	179571917	G G	GTTTCCAG others(20): Show GTTTCCAGACACCAGCTAAGAGTCAGCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp1 HG01070.hp2 others(49): Show HG00280.hp1 HG00408.hp1 HG01070.hp2 HG01071.hp2 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01516.hp2 HG01517.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp1 HG02165.hp2 HG02273.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02809.hp1 HG03195.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18943.hp2 NA18947.hp1 NA18949.hp2 NA18953.hp1 NA18959.hp1 NA18967.hp2 NA18972.hp2 NA18983.hp1 NA18991.hp2 NA18994.hp2 NA18995.hp2 NA19006.hp2 NA19007.hp1 NA19011.hp1 NA19068.hp2 NA19070.hp2 NA19075.hp1 NA19079.hp1 NA19087.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 others(23): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0038 a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0178 a0001c0001t0001g0182	52	380	0.1368	27	c.278 others(44): Show c.278-1449_278-1423dupTCCAGACACCAGCTAAGAGTCAGCCTT	ACTL6A	ENSG00000136518.17	transcript	ENST00000429709.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACTL9_chr19_8692400_8703795	8694853	A A	AGAGAGAG others(20): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	356	0.0028	27	c.25 others(38): Show c.2597_*2598insCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTL9	ENSG00000181786.6	transcript	ENST00000324436.5	protein_coding		2546		chr19	TogoVar
ACTN1_chr14_68869128_68984302	68881936	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18980.hp1 NA18992.hp1 NA18940.hp1 NA18980.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0001g0174 a0001c0001t0002g0018 a0001c0001t0002g0035	3	284	0.0106	27	c.195 others(44): Show c.1953+521_1953+522insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN1_chr14_68869128_68984302	68881955	T T	TTTTTTTT others(20): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	284	0.0035	27	c.195 others(44): Show c.1953+502_1953+503insTCAAAAAAAAAAAAAAAAAAAAAAAAA	ACTN1	ENSG00000072110.16	transcript	ENST00000394419.9	protein_coding	16/21			chr14	TogoVar
ACTN2_chr1_236681499_236769631	236721015	G G	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	344	0.0029	27	c.448 others(42): Show c.448+824_448+825insGTTTTTTTTTTTTTTTTTTTTTTTTTT	ACTN2	ENSG00000077522.15	transcript	ENST00000366578.6	protein_coding	4/20			chr1	TogoVar
ACTN4_chr19_38642649_38736589	38673636	T T	TTTATATA others(20): Show TTTATATATATTTATATATTTATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00597.hp1 others(16): Show HG00423.hp2 HG00558.hp1 HG00597.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp1 HG02135.hp1 NA18612.hp1 NA18940.hp2 NA18953.hp2 NA18955.hp1 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA18975.hp2 NA18993.hp1 NA19079.hp2 NA19087.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0015 a0001c0001t0019 a0001c0017t0002	a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 others(16): Show a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0109 a0001c0001t0002g0113 a0001c0001t0002g0119 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0167 a0001c0001t0002g0207 a0001c0001t0014g0120 a0001c0001t0015g0118 a0001c0001t0015g0124 a0001c0001t0019g0299 a0001c0017t0002g0121	19	314	0.0605	27	c.162 others(46): Show c.162+25783_162+25809dupATTATATATATTTATATATTTATATA T	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr19	TogoVar
ACTN4_chr19_38642649_38736589	38735639	G G	GGTAGGGA others(20): Show GGTAGGGACCGTAGGGACCGTAGGGACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA20129.hp2 HG03516.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0269 a0001c0001t0020g0277 a0001c0001t0020g0269 a0001c0001t0020g0277	2	314	0.0064	27	c.62 others(38): Show c.6207_*6208insGTAGGGACCGTAGGGACCGTAGGGACC	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4051		chr19	TogoVar
ACTN4_chr19_38642649_38736589	38736008	A A	AGGTCTCG others(20): Show AGGTCTCGGGGGTCTCGGGGGTCTCGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0040 a0001c0002t0040	a0001c0002t0040g0203 a0001c0002t0040g0203	1	314	0.0032	27	c.65 others(38): Show c.6576_*6577insGGTCTCGGGGGTCTCGGGGGTCTCGGG	ACTN4	ENSG00000130402.14	transcript	ENST00000252699.7	protein_coding		4420		chr19	TogoVar
ACTR3C_chr7_150242212_150328545	150244067	G G	GTATAGTC others(20): Show GTATAGTCTTAGAATATTGAATATTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG01192.hp2 others(15): Show HG00642.hp1 HG00741.hp1 HG01192.hp2 HG02071.hp1 HG02280.hp2 HG02738.hp2 HG02922.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03654.hp2 HG03834.hp1 NA18948.hp1 NA18975.hp2 NA18991.hp1 NA19090.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0006 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0006c0005 a0007c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0003c0003t0001 a0003c0003t0002 a0006c0005t0002 a0007c0007t0002	a0001c0001t0001g0102 a0001c0001t0001g0230 a0001c0001t0002g0091 others(15): Show a0001c0001t0001g0102 a0001c0001t0001g0230 a0001c0001t0002g0091 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0145 a0001c0001t0002g0201 a0001c0001t0002g0206 a0001c0001t0002g0250 a0001c0001t0002g0265 a0002c0002t0002g0017 a0002c0002t0002g0143 a0003c0003t0001g0186 a0003c0003t0002g0187 a0003c0003t0002g0212 a0006c0005t0002g0110 a0006c0005t0002g0111 a0007c0007t0002g0184	18	294	0.0612	27	c.35 others(38): Show c.3514_*3540dupTTGAATATTCAATATTCTAAGACTATA	ACTR3C	ENSG00000106526.12	transcript	ENST00000683684.1	protein_coding		3144		chr7	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATATA others(20): Show AATATATAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00741.hp1 HG00741.hp2 others(40): Show HG00597.hp1 HG00741.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01255.hp1 HG01496.hp1 HG02015.hp2 HG02056.hp1 HG02523.hp2 HG02615.hp1 HG02723.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp1 HG03942.hp1 HG04204.hp1 NA18522.hp1 NA18946.hp2 NA18951.hp2 NA18959.hp2 NA18965.hp2 NA18974.hp1 NA18981.hp2 NA18985.hp1 NA18988.hp1 NA18989.hp2 NA18999.hp2 NA19004.hp2 NA19009.hp2 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19075.hp2 NA19078.hp1 NA19083.hp1 NA19087.hp2 NA20129.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0010 a0001c0001 a0004c0006 a0006c0010	a0001c0001t0001 a0004c0006t0001 a0006c0010t0001 a0001c0001t0001 a0004c0006t0001 a0006c0010t0001	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0026 a0004c0006t0001g0017 a0006c0010t0001g0035	43	418	0.1029	27	c.-10 others(38): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169770651	T T	TATATCAT others(20): Show TATATCATATATAAAAATTTATATTTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02965.hp2 HG02970.hp1 others(1): Show HG02280.hp2 HG02965.hp2 HG02970.hp1 NA19072.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	4	418	0.0096	27	c.-11 others(38): Show c.-1132_-1131insCTAAATATAAATTTTTATATATGATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1091		chr3	TogoVar
ACTRT3_chr3_169761921_169774561	169771300	T T	TATAAAAA others(20): Show TATAAAAAATTATGTTTATATATCATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02622.hp1 HG02451.hp2 HG02622.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0012 a0002c0004t0001g0012	2	418	0.0048	27	c.-17 others(38): Show c.-1781_-1780insTTATGATATATAAACATAATTTTTTAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1740		chr3	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAAGA others(20): Show GAGAAAGAAAGAAAGAAAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0036 a0002c0003t0009g0036	1	216	0.0046	27	c.544 others(44): Show c.544+1891_544+1892insTTCTTTCTTCTTTCTTTCTTTCTTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR1C_chr2_157521767_157633864	157554201	G G	GAGAAGAA others(20): Show GAGAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0191 a0001c0001t0012g0191	1	216	0.0046	27	c.544 others(44): Show c.544+1891_544+1892insTTCTTTCTTTCTTTCTTTCTTTCTTCT	ACVR1C	ENSG00000123612.16	transcript	ENST00000243349.13	protein_coding	3/8			chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844400	G G	GGCCGCCG others(20): Show GGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 NA19006.hp1 HG02055.hp1 NA19006.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0022 a0001c0002t0006g0099 a0001c0002t0006g0022 a0001c0002t0006g0099	2	338	0.0059	27	c.-75 others(36): Show c.-753_-752insGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		628		chr2	TogoVar
ACVR2A_chr2_147840029_147935822	147844409	T T	TGCCGCCG others(20): Show TGCCGCCGCCGCCGCCGCCGCCGCCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	338	0.0030	27	c.-74 others(36): Show c.-744_-743insGCCGCCGCCGCCGCCGCCGCCGCCGCC	ACVR2A	ENSG00000121989.15	transcript	ENST00000241416.12	protein_coding		619		chr2	TogoVar
ACYP2_chr2_53966113_54310300	54201632	C C	CTTTCTTT others(20): Show CTTTCTTTTTTCTTTCTTTCTTTCTTTG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	272	0.0037	27	c.404 others(46): Show c.404+62889_404+62890insTTTTTCTTTCTTTCTTTCTTTGTTTC T	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ADA2_chr22_17173790_17224435	17188868	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0282 a0002c0009t0002g0282	1	408	0.0025	27	c.973 others(42): Show c.973-422_973-421insATATATATATATATTTTTTTTTTTTTT	ADA2	ENSG00000093072.19	transcript	ENST00000399837.8	protein_coding	6/9			chr22	TogoVar

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