JoGo: Joint Open Genome and Omics Platform

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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
GLG1_chr16_74442440_74612114	74542756	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0047	1	342	0.0029	29	c.439 others(48): Show c.439-10632_439-10604dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542758	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0075 a0001c0003t0010g0075	1	342	0.0029	29	c.439 others(48): Show c.439-10634_439-10606dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542760	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02280.hp2 HG02735.hp1 others(4): Show HG00408.hp1 HG02280.hp2 HG02735.hp1 NA18962.hp2 NA18975.hp2 NA19083.hp2 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0034 a0001c0002t0003g0035 others(4): Show a0001c0002t0003g0005 a0001c0002t0003g0034 a0001c0002t0003g0035 a0001c0002t0003g0037 a0001c0002t0003g0045 a0001c0002t0003g0046 a0001c0002t0003g0050	7	342	0.0205	29	c.439 others(48): Show c.439-10636_439-10608dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542762	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0054 a0001c0003t0054	a0001c0003t0054g0076 a0001c0003t0054g0076	1	342	0.0029	29	c.439 others(48): Show c.439-10638_439-10610dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542766	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA19009.hp2 NA19090.hp1 HG02451.hp1 NA19009.hp2 NA19090.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0010 a0001c0003t0003 a0001c0003t0010	a0001c0003t0003g0066 a0001c0003t0003g0072 a0001c0003t0010g0071 a0001c0003t0003g0066 a0001c0003t0003g0072 a0001c0003t0010g0071	3	342	0.0088	29	c.439 others(48): Show c.439-10642_439-10614dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542768	A A	AGGAAGGA others(22): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01361.hp1 HG00741.hp2 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0049 a0001c0003t0003 a0001c0002t0049 a0001c0003t0003	a0001c0002t0049g0054 a0001c0003t0003g0064 a0001c0002t0049g0054 a0001c0003t0003g0064	2	342	0.0059	29	c.439 others(48): Show c.439-10644_439-10616dupCTTCCTTCCTTCCTTCCTTCCTTCCT TCC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542770	G G	GAAGGAAG others(22): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0068 a0001c0003t0003g0068	1	342	0.0029	29	c.439 others(48): Show c.439-10646_439-10618dupTCCTTCCTTCCTTCCTTCCTTCCTTC CTT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLI1_chr12_57454785_57477268	57465242	T T	TGCAACTA others(22): Show TGCAACTAGCCAGGAATTCAGCAGCGCAAA	frameshift_variant frameshift_variant	HIGH	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0022 a0014c0022	a0014c0022t0001 a0014c0022t0001	a0014c0022t0001g0065 a0014c0022t0001g0065	1	414	0.0024	29	c.521 others(36): Show c.521_522insGCAACTAGCCAGGAATTCAGCAGCGCAAA	p.Phe others(5): Show p.Phe174fs	GLI1	ENSG00000111087.10	transcript	ENST00000228682.7	protein_coding	5/12	966/3972	522/3321	174/1106			chr12	TogoVar
GLO1_chr6_38670925_38708145	38687957	T T	TTACTTTG others(22): Show TTACTTTGGAGCCACATGCCATCTTTCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA20905.hp1 HG04199.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0113 a0001c0001t0002g0099 a0001c0001t0002g0113	2	410	0.0049	29	c.85- others(43): Show c.85-1012_85-984dupGGAGAAAGATGGCATGTGGCTCCAAAGTA		GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5						chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG01515.hp1 others(13): Show HG00408.hp2 HG00738.hp1 HG01515.hp1 HG01943.hp1 HG02055.hp1 HG03239.hp1 HG06807.hp2 NA18943.hp1 NA18948.hp1 NA18960.hp1 NA18971.hp1 NA18977.hp1 NA18993.hp1 NA19030.hp2 NA19067.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0061 others(9): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0078 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0123 a0001c0001t0001g0131 a0001c0001t0002g0135 a0001c0001t0002g0140	16	269	0.0595	29	c.201 others(46): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A		GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLP2R_chr17_9820924_9897099	9873556	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0135 a0002c0002t0003g0135	1	380	0.0026	29	c.114 others(48): Show c.1145+2744_1145+2745insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLP2R_chr17_9820924_9897099	9879291	T T	TAAAATAA others(22): Show TAAAATAAAATAAAATAAAATAAAATAATA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01993.hp1 HG00544.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0048 a0001c0001t0001g0051	2	380	0.0053	29	c.114 others(48): Show c.1146-1084_1146-1083insATAAAATAAAATAAAATAAAATAATA AAA		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	10/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLRA1_chr5_151817513_151929851	151849163	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	284	0.0035	29	c.912 others(46): Show c.912+2226_912+2227insGAAAGAAAGAAAGAAAGAAAGAAAAGAA A		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849452	T T	TTTCCTTT others(22): Show TTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03209.hp1 HG02818.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0003g0284 a0001c0001t0001g0072 a0001c0001t0003g0284	2	284	0.0070	29	c.912 others(46): Show c.912+1937_912+1938insGGAAAGGAAAGGAAAGGAAAGGAAAGGA A		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849458	T T	TCCCTCCC others(22): Show TCCCTCCCTCCCTCCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	284	0.0035	29	c.912 others(46): Show c.912+1931_912+1932insGAGGGAGGGAGGGAGGGAGGGAGGGAGG G		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0002 a0001c0002t0005g0002	1	232	0.0043	29	c.931 others(46): Show c.931-8799_931-8798insAAAAAAATATATATATATATATATATAT A		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8					INFO_REALIGN_3_PRIME	chrX	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0000 a0002c0002t0008g0000	1	452	0.0022	29	c.-17 others(38): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding					105		chr5	TogoVar
GMDS_chr6_1618806_2250605	1652596	A A	ATTATATA others(22): Show ATTATATATAATATATATAATATATATTAT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG03017.hp2 HG03704.hp1 others(2): Show HG02698.hp1 HG03017.hp2 HG03704.hp1 NA20752.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0034 a0001c0001t0001g0107 a0001c0002t0001g0109 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0156 a0001c0002t0006g0166	5	166	0.0301	29	c.988 others(48): Show c.988-28085_988-28057dupATAATATATATTATATATATTATATA TAA		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1927118	T T	TTTTTATT others(22): Show TTTTTATTCAGAGGGTAGCGTGTTGATGTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	166	0.0060	29	c.771 others(46): Show c.771+2956_771+2984dupTACATCAACACGCTACCCTCTGAATAAA A		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	1927227	G G	GTGTTGGT others(22): Show GTGTTGGTGTATTTTATTCGGAGGGTAGCA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02109.hp2 HG02258.hp2 others(6): Show HG00639.hp2 HG02109.hp2 HG02258.hp2 HG02886.hp2 HG03098.hp1 HG03195.hp2 NA19240.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0084 others(6): Show a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0160 a0001c0001t0002g0071 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0151	9	166	0.0542	29	c.771 others(46): Show c.771+2875_771+2876insTGCTACCCTCCGAATAAAATACACCAAC A		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10						chr6	TogoVar
GMDS_chr6_1618806_2250605	2059707	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	166	0.0060	29	c.345 others(48): Show c.345+56063_345+56064insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	4/10						chr6	TogoVar
GMEB2_chr20_63582605_63632101	63599177	C C	CCCGCTCC others(22): Show CCCGCTCCTGACCCCCCGGAGCTAACGCGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 NA18522.hp2 HG01081.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0118 a0001c0001t0001g0119	2	330	0.0061	29	c.358 others(46): Show c.358-1318_358-1317insCCGCGTTAGCTCCGGGGGGTCAGGAGCG G		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	4/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63626230	A A	ATCACTGT others(22): Show ATCACTGTGGGTCTCGTCCCTGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00741.hp2 others(14): Show HG00280.hp2 HG00323.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG02970.hp1 HG03486.hp1 HG06807.hp2 NA19043.hp1 NA19043.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0005 a0001c0014 a0001c0005 a0001c0014	a0001c0005t0005 a0001c0005t0010 a0001c0005t0012 others(1): Show a0001c0005t0005 a0001c0005t0010 a0001c0005t0012 a0001c0014t0010	a0001c0005t0005g0008 a0001c0005t0005g0270 a0001c0005t0005g0271 others(12): Show a0001c0005t0005g0008 a0001c0005t0005g0270 a0001c0005t0005g0271 a0001c0005t0005g0272 a0001c0005t0005g0273 a0001c0005t0005g0274 a0001c0005t0005g0275 a0001c0005t0005g0276 a0001c0005t0005g0277 a0001c0005t0005g0278 a0001c0005t0005g0279 a0001c0005t0010g0280 a0001c0005t0012g0036 a0001c0005t0012g0037 a0001c0014t0010g0281	17	330	0.0515	29	c.-58 others(44): Show c.-58+725_-58+726insCCACCCCACAGGGACGAGACCCACAGTGA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63626230	A A	ATCCCTGT others(22): Show ATCCCTGTGGGTCTCGTCCCTGTGGGGTGG	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02109.hp2 HG02809.hp1 others(7): Show HG01255.hp2 HG02109.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03516.hp1 NA18522.hp1 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0007 a0001c0003 a0001c0005 a0001c0007	a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 others(2): Show a0001c0003t0002 a0001c0005t0003 a0001c0005t0008 a0001c0005t0025 a0001c0007t0007	a0001c0003t0002g0263 a0001c0005t0003g0112 a0001c0005t0008g0264 others(7): Show a0001c0003t0002g0263 a0001c0005t0003g0112 a0001c0005t0008g0264 a0001c0005t0008g0265 a0001c0005t0008g0266 a0001c0005t0025g0267 a0001c0007t0007g0038 a0001c0007t0007g0039 a0001c0007t0007g0040 a0001c0007t0007g0041	10	330	0.0303	29	c.-58 others(44): Show c.-58+725_-58+726insCCACCCCACAGGGACGAGACCCACAGGGA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	1/9						chr20	TogoVar
GML_chr8_142829801_142851851	142831876	C C	CACCCCCA others(22): Show CACCCCCATTGCCATATGAGCTATTCGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0012 a0002c0002t0003g0012	1	422	0.0024	29	c.-30 others(40): Show c.-3015_-3014insACCCCCATTGCCATATGAGCTATTCGACA		GML	ENSG00000104499.7	transcript	ENST00000220940.2	protein_coding					2924		chr8	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	450	0.0022	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATATTT T		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145359	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	450	0.0022	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATTTTT T		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
GNA15_chr19_3131033_3168749	3145360	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	450	0.0022	29	c.146 others(46): Show c.146-3231_146-3230insATATATATATATATATATATATATATAT A		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6						chr19	TogoVar
GNAQ_chr9_77711097_78036811	77761036	A A	AGCCCCTC others(22): Show AGCCCCTCCGCCCGGCAGCCACCCCATCTG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	282	0.0036	29	c.736 others(48): Show c.736-32398_736-32370dupCAGATGGGGTGGCTGCCGGGCGGAGG GGC		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	5/6						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77828059	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0213 a0001c0001t0003g0213	1	282	0.0036	29	c.322 others(48): Show c.322-12318_322-12290dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNAQ_chr9_77711097_78036811	77894387	A A	AAATATAT others(22): Show AAATATATATTTTATATATATATTTAATAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0277 a0001c0001t0032g0278 a0001c0001t0019g0277 a0001c0001t0032g0278	2	282	0.0071	29	c.321 others(48): Show c.321+27773_321+27774insCTATTAAATATATATATAAAATATAT ATT		GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6						chr9	TogoVar
GNB1L_chr22_19778223_19859874	19798153	G G	GCCAGCAC others(22): Show GCCAGCACCTGCTGCGCGGGGCCGTCAAGT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0288 a0005c0006t0003g0288	1	326	0.0031	29	c.732 others(46): Show c.732+3819_732+3847dupACTTGACGGCCCCGCGCAGCAGGTGCTG G		GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	7/7						chr22	TogoVar
GNB1L_chr22_19778223_19859874	19847803	G G	GAAAAAAA others(22): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0005 a0004c0004t0005	a0004c0004t0005g0046 a0004c0004t0005g0046	1	326	0.0031	29	c.-21 others(46): Show c.-21+6639_-21+6640insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T		GNB1L	ENSG00000185838.14	transcript	ENST00000329517.11	protein_coding	2/7						chr22	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02622.hp2 HG03669.hp1 HG04228.hp1 others(3): Show HG02622.hp2 HG03669.hp1 HG04228.hp1 NA18966.hp1 NA18970.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0153 a0001c0001t0008 a0001c0001t0153	a0001c0001t0008g0099 a0001c0001t0008g0140 a0001c0001t0008g0142 others(3): Show a0001c0001t0008g0099 a0001c0001t0008g0140 a0001c0001t0008g0142 a0001c0001t0008g0152 a0001c0001t0008g0176 a0001c0001t0153g0244	6	366	0.0164	29	c.56 others(40): Show c.5654_*5655insAAAAATATATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18956.hp2 NA18960.hp2 NA18981.hp2 others(1): Show NA18956.hp2 NA18960.hp2 NA18981.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0092 a0001c0001t0015 a0001c0001t0092	a0001c0001t0015g0143 a0001c0001t0015g0145 a0001c0001t0015g0146 others(1): Show a0001c0001t0015g0143 a0001c0001t0015g0145 a0001c0001t0015g0146 a0001c0001t0092g0137	4	366	0.0109	29	c.56 others(40): Show c.5654_*5655insAAAAAAATATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02698.hp2 HG03490.hp2 HG03704.hp2 others(4): Show HG02698.hp2 HG03490.hp2 HG03704.hp2 NA18946.hp1 NA18969.hp2 NA18978.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0086 a0001c0002t0150 a0001c0001t0007 a0001c0001t0086 a0001c0002t0150	a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 others(4): Show a0001c0001t0007g0139 a0001c0001t0007g0144 a0001c0001t0007g0148 a0001c0001t0007g0153 a0001c0001t0007g0169 a0001c0001t0086g0161 a0001c0002t0150g0264	7	366	0.0191	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAATATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATATATATTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0080	a0001c0001t0080g0147 a0001c0001t0080g0147	1	366	0.0027	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAAAATATATATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNB5_chr15_52110100_52196392	52117102	A A	ATATATAT others(22): Show ATATATATATATATTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0098 a0001c0003t0098	a0001c0003t0098g0088 a0001c0003t0098g0088	1	366	0.0027	29	c.56 others(40): Show c.5654_*5655insAAAAAAAAAAAAAAAAATATATATATATA		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding	13/13				5654		chr15	TogoVar
GNG2_chr14_51855612_51974795	51942589	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18989.hp2 NA18966.hp1 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0062 a0001c0001t0005 a0001c0002t0062	a0001c0001t0005g0302 a0001c0002t0062g0367 a0001c0001t0005g0302 a0001c0002t0062g0367	2	380	0.0053	29	c.-29 others(46): Show c.-29-8058_-29-8057insCTTTCTTTCTTTCTTTCTTTCTTTCTTT T		GNG2	ENSG00000186469.9	transcript	ENST00000556766.6	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr14	TogoVar
GNG4_chr1_235542685_235654784	235596248	A A	ACACACAC others(22): Show ACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0237 a0001c0001t0066g0237	1	330	0.0030	29	c.-12 others(46): Show c.-122-738_-122-737insGTGTGTGTGTGTGTGTGTGTGTGTGTGT G		GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding	1/3						chr1	TogoVar
GNG7_chr19_2506219_2707694	2592741	A A	AAGGGGAG others(22): Show AAGGGGAGGGGAGGGGAGGGAAGGAAGGGG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03471.hp1 HG02922.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0088 a0001c0001t0017 a0001c0001t0088	a0001c0001t0017g0042 a0001c0001t0088g0131 a0001c0001t0017g0042 a0001c0001t0088g0131	2	206	0.0097	29	c.-77 others(48): Show c.-77-37554_-77-37553insCCCCTTCCTTCCCTCCCCTCCCCTCC CCT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2602897	T T	TTTTCTTT others(22): Show TTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0023 a0001c0001t0060g0023	1	206	0.0049	29	c.-78 others(48): Show c.-78+43326_-78+43327insGAAAGAAAGAAAAGAAAGAAAGAAAG AAA		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2638446	G G	GAGGGGGA others(22): Show GAGGGGGAGGGGGAGGGGAGGGGGAGGGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	206	0.0049	29	c.-78 others(46): Show c.-78+7777_-78+7778insTTCCCTCCCCCTCCCCTCCCCCTCCCCC T		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2638452	A A	AGGGGGAG others(22): Show AGGGGGAGGGGAGGGGGAGGGAAAGGGGAG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0008 a0001c0001t0025g0008	1	206	0.0049	29	c.-78 others(46): Show c.-78+7771_-78+7772insCTCCCCTTTCCCTCCCCCTCCCCTCCCC C		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	2/4						chr19	TogoVar
GNPTAB_chr12_101740499_101835959	101824433	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18977.hp2 NA19011.hp1 NA19066.hp2 NA18977.hp2 NA19011.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0251 a0001c0003t0003g0134 a0001c0003t0003g0142 a0001c0001t0004g0251 a0001c0003t0003g0134 a0001c0003t0003g0142	3	392	0.0077	29	c.117 others(46): Show c.117+6125_117+6126insTATATATATATATATATATATATATATA T		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding	1/20						chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833180	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG03710.hp1 HG00558.hp2 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0129 a0001c0003t0003g0160 a0001c0002t0002g0129 a0001c0003t0003g0160	2	392	0.0051	29	c.-25 others(40): Show c.-2506_-2505insATATATATATATATATATATATATATATA		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2222		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19065.hp1 NA18960.hp2 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0003 a0001c0008	a0001c0003t0003 a0001c0008t0004 a0001c0003t0003 a0001c0008t0004	a0001c0003t0003g0177 a0001c0008t0004g0254 a0001c0003t0003g0177 a0001c0008t0004g0254	2	392	0.0051	29	c.-25 others(40): Show c.-2508_-2507insATATATATATATATATATATATATATATT		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG03239.hp2 NA18945.hp1 others(2): Show HG02165.hp2 HG03239.hp2 NA18945.hp1 NA18987.hp2 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0247 a0001c0001t0004g0259 others(2): Show a0001c0001t0004g0004 a0001c0001t0004g0247 a0001c0001t0004g0259 a0001c0001t0004g0266 a0001c0001t0004g0273	5	392	0.0128	29	c.-25 others(40): Show c.-2508_-2507insATATATATATATATATATATATATATATA		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GOLGA8B_chr15_34520095_34588651	34584748	C C	CGGGGGGG others(22): Show CGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0086 a0003c0003t0003g0086	1	198	0.0051	29	c.-23 others(40): Show c.-2356_-2355insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC		GOLGA8B	ENSG00000215252.12	transcript	ENST00000683415.1	protein_coding					1098		chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23361170	T T	TTTTCTTT others(22): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 homoSapiens_chm13v2.hp1 HG02055.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0032 a0004c0004t0002 a0004c0004t0032	a0004c0004t0002g0101 a0004c0004t0032g0120 a0004c0004t0002g0101 a0004c0004t0032g0120	2	430	0.0047	29	c.914 others(42): Show c.914-48_914-47insCTTTTCTTTTCTTTTCTTTTCTTTTCTTT		GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	11/18					INFO_REALIGN_3_PRIME	chr15	TogoVar

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