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	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
GK_chrX_30648423_30736462	30664119	T T	TATATATA others(28): Show TATATATATCTATATATATTTATAGATATATATAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	1	286	0.0035	35	c.79- others(50): Show c.79-1387_79-1386insTATCTATATATATTTATAGATATATATAAA ATATA		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GK_chrX_30648423_30736462	30664125	G G	GATATATA others(28): Show GATATATAGATATTTATAGATATATATTTTATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	286	0.0035	35	c.79- others(50): Show c.79-1384_79-1383insATATAGATATTTATAGATATATATTTTATA TATAT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLDN_chr15_51336655_51413000	51353734	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0050 a0002c0002t0002g0050	1	412	0.0024	35	c.363 others(54): Show c.363+11687_363+11688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAC		GLDN	ENSG00000186417.15	transcript	ENST00000335449.11	protein_coding	1/9						chr15	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(28): Show AAGTATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02698.hp2 HG03654.hp2 others(2): Show HG00408.hp2 HG02698.hp2 HG03654.hp2 HG03710.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0135 others(2): Show a0001c0001t0002g0118 a0001c0001t0002g0125 a0001c0001t0002g0135 a0001c0001t0002g0152 a0001c0001t0002g0223	5	342	0.0146	35	c.775 others(52): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ATATACT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTATAT others(28): Show AAGTATATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0293 a0001c0001t0002g0293	1	342	0.0029	35	c.775 others(52): Show c.775-1804_775-1803insATATATATATATATATATATATATATAC ATATACT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAGTGTAT others(28): Show AAGTGTATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0067 a0001c0003t0003g0067	1	342	0.0029	35	c.775 others(52): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ATACACT		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(28): Show GGAAGGGAGGAAGGAAGGAAGGAAGGGAGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0279 a0001c0001t0006g0279	1	342	0.0029	35	c.439 others(54): Show c.439-10556_439-10555insTTCCTCCCTCCCTTCCTTCCTTCCTT CCTCCCTTC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLG1_chr16_74442440_74612114	74542708	G G	GGAAGGGA others(28): Show GGAAGGGAGGAAGGAAGGAAGGGAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00733.hp1 HG01123.hp2 others(22): Show HG00140.hp1 HG00733.hp1 HG01123.hp2 HG01358.hp1 HG01516.hp1 HG01981.hp2 HG02109.hp1 HG02109.hp2 HG02615.hp2 HG02970.hp2 HG03225.hp2 HG03486.hp2 HG03516.hp2 NA18948.hp1 NA18967.hp1 NA18975.hp1 NA18984.hp2 NA19009.hp1 NA19055.hp1 NA19056.hp2 NA19062.hp1 NA19066.hp2 NA19082.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0024 a0001c0001t0035 a0001c0001t0036 a0001c0001t0056 a0001c0004t0001 a0001c0004t0015 a0001c0004t0017 a0001c0004t0018 a0001c0006t0001 a0001c0008t0014	a0001c0001t0001g0091 a0001c0001t0001g0230 a0001c0001t0001g0238 others(22): Show a0001c0001t0001g0091 a0001c0001t0001g0230 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0263 a0001c0001t0002g0175 a0001c0001t0002g0214 a0001c0001t0024g0266 a0001c0001t0024g0267 a0001c0001t0035g0186 a0001c0001t0036g0320 a0001c0001t0056g0246 a0001c0004t0001g0188 a0001c0004t0001g0202 a0001c0004t0001g0203 a0001c0004t0001g0209 a0001c0004t0001g0213 a0001c0004t0015g0212 a0001c0004t0017g0191 a0001c0004t0018g0337 a0001c0006t0001g0095 a0001c0006t0001g0148 a0001c0008t0014g0178	25	342	0.0731	35	c.439 others(54): Show c.439-10556_439-10555insTTCCTTCCTTCCTCCCTTCCTTCCTT CCTCCCTTC		GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	1/25						chr16	TogoVar
GLO1_chr6_38670925_38708145	38705348	C C	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTATTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG02683.hp2 HG01074.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0100 a0001c0001t0002g0093 a0001c0001t0002g0100	2	410	0.0049	35	c.-22 others(46): Show c.-2295_-2294insCAAATAAAGAAAGAAGAAAGAAAGAAAGAAAGAA A		GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding					2204		chr6	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp1 NA18747.hp1 NA18956.hp2 HG03490.hp1 NA18747.hp1 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0099 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0099	3	269	0.0112	35	c.201 others(52): Show c.201+1033_201+1034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLOD5_chrX_48756747_48778648	48766985	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	269	0.0037	35	c.201 others(52): Show c.201+1033_201+1034insACAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA		GLOD5	ENSG00000171433.12	transcript	ENST00000303227.11	protein_coding	2/3					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLRA1_chr5_151817513_151929851	151849367	C C	CTTCCTTT others(28): Show CTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA18747.hp2 HG02027.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0280 a0001c0001t0002g0268 a0001c0001t0002g0280	2	284	0.0070	35	c.912 others(52): Show c.912+2022_912+2023insAGGAAAGGAAAGGAAAGGAAAGGAAAGG AAAGGAA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA1_chr5_151817513_151929851	151849376	G G	GTTTCCTT others(28): Show GTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18975.hp1 NA19009.hp2 others(1): Show NA18962.hp2 NA18975.hp1 NA19009.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 others(1): Show a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0238 a0001c0001t0002g0258	4	284	0.0141	35	c.912 others(52): Show c.912+1979_912+2013dupGGAAAGGAAAGGAAAGGAAAGGAAAGGA AAGGAAA		GLRA1	ENSG00000145888.11	transcript	ENST00000274576.9	protein_coding	7/8						chr5	TogoVar
GLRA2_chrX_14524536_14736812	14681910	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0038 a0001c0001t0003g0038	1	232	0.0043	35	c.931 others(52): Show c.931-8800_931-8799insTATATATATATATATATATATATATATA TATATAT		GLRA2	ENSG00000101958.14	transcript	ENST00000218075.9	protein_coding	7/8						chrX	TogoVar
GLRB_chr4_157071150_157177090	157173886	G G	GTGTGTGC others(28): Show GTGTGTGCATGAGATATTTTATGTTGAAATATTAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	306	0.0033	35	c.31 others(46): Show c.3158_*3159insTGTGTGCATGAGATATTTTATGTTGAAATATTAA A		GLRB	ENSG00000109738.11	transcript	ENST00000264428.9	protein_coding					1797		chr4	TogoVar
GMCL2_chr5_178179505_178192371	178187475	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp1 HG02040.hp1 others(4): Show HG00642.hp1 HG00741.hp1 HG02040.hp1 HG02071.hp1 HG02818.hp2 NA18747.hp2 NA19009.hp2	a0002 a0010 a0002 a0010	a0002c0002 a0010c0010 a0002c0002 a0010c0010	a0002c0002t0002 a0010c0010t0002 a0002c0002t0002 a0010c0010t0002	a0002c0002t0002g0000 a0010c0010t0002g0000 a0002c0002t0002g0000 a0010c0010t0002g0000	7	452	0.0155	35	c.-17 others(44): Show c.-177_-176insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA		GMCL2	ENSG00000244234.3	transcript	ENST00000463439.3	protein_coding					105		chr5	TogoVar
GMEB2_chr20_63582605_63632101	63607574	C C	CCACATCC others(28): Show CCACATCCATTTCTAGAAACATGTCCCTCTGACCCA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0137 a0001c0003t0002g0137	1	330	0.0030	35	c.132 others(52): Show c.132-2735_132-2734insTGGGTCAGAGGGACATGTTTCTAGAAAT GGATGTG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607746	C C	CACACATC others(28): Show CACACATCCATTTCTAGAAACATGCCCCTGTGACCT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp2 HG02896.hp1 others(2): Show HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0008 a0001c0005t0025 a0001c0005t0003 a0001c0005t0008 a0001c0005t0025	a0001c0005t0003g0112 a0001c0005t0008g0264 a0001c0005t0008g0265 others(2): Show a0001c0005t0003g0112 a0001c0005t0008g0264 a0001c0005t0008g0265 a0001c0005t0008g0266 a0001c0005t0025g0267	5	330	0.0152	35	c.132 others(52): Show c.132-2907_132-2906insAGGTCACAGGGGCATGTTTCTAGAAATG GATGTGT		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63607777	A A	ACCTCACC others(28): Show ACCTCACCTCCATTTCTAGAAACATGCCCCTCTGAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA18522.hp1 HG02109.hp2 NA18522.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0039 a0001c0007t0007g0040 a0001c0007t0007g0039 a0001c0007t0007g0040	2	330	0.0061	35	c.132 others(52): Show c.132-2938_132-2937insGTCAGAGGGGCATGTTTCTAGAAATGGA GGTGAGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608009	C C	CCCCTCTG others(28): Show CCCCTCTGACCCACACATCCATTTCTAGAAACATGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0002 a0003c0013t0002	a0003c0013t0002g0131 a0003c0013t0002g0131	1	330	0.0030	35	c.132 others(52): Show c.132-3170_132-3169insACATGTTTCTAGAAATGGATGTGTGGGT CAGAGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608113	C C	CCTCTGAC others(28): Show CCTCTGACCCACCTCCATTTCTAGAAACATGCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03516.hp1 HG02895.hp2 HG03516.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0008 a0001c0005t0003 a0001c0005t0008	a0001c0005t0003g0112 a0001c0005t0008g0265 a0001c0005t0003g0112 a0001c0005t0008g0265	2	330	0.0061	35	c.132 others(52): Show c.132-3274_132-3273insAGGGGCATGTTTCTAGAAATGGAGGTGG GTCAGAG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608185	A A	ACCCCACA others(28): Show ACCCCACATCCATTTCTAGAAACATGCCCCTCTGAC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	330	0.0030	35	c.132 others(52): Show c.132-3346_132-3345insGTCAGAGGGGCATGTTTCTAGAAATGGA TGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608329	A A	ACATCCAT others(28): Show ACATCCATTTCTAGAAACATGCCCCTCTGACCCACC	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19043.hp2 HG02970.hp1 NA19043.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0012 a0001c0005t0012	a0001c0005t0012g0036 a0001c0005t0012g0037 a0001c0005t0012g0036 a0001c0005t0012g0037	2	330	0.0061	35	c.132 others(52): Show c.132-3490_132-3489insGGTGGGTCAGAGGGGCATGTTTCTAGAA ATGGATG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608359	C C	CACACCTC others(28): Show CACACCTCCATTTCTAGAAACATGCCCCTGACCCCA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0084 a0001c0004t0004g0084	1	330	0.0030	35	c.132 others(52): Show c.132-3520_132-3519insTGGGGTCAGGGGCATGTTTCTAGAAATG GAGGTGT		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608418	C C	CCTCTGAC others(28): Show CCTCTGACCCACCTCCATTTCTAGAAACATGCCCCT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0091 a0001c0004t0004g0091	1	330	0.0030	35	c.132 others(52): Show c.132-3579_132-3578insAGGGGCATGTTTCTAGAAATGGAGGTGG GTCAGAG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608456	A A	ACTCACCT others(28): Show ACTCACCTCCATTTCTAGAAACGTGCCACTCTGACC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0084 a0001c0004t0004g0084	1	330	0.0030	35	c.132 others(52): Show c.132-3617_132-3616insGGTCAGAGTGGCACGTTTCTAGAAATGG AGGTGAG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608765	C C	CCACCTCC others(28): Show CCACCTCCATTTCTAGAAACATGCCCCTCTGACCCA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0038 a0001c0007t0007g0038	1	330	0.0030	35	c.132 others(52): Show c.132-3926_132-3925insTGGGTCAGAGGGGCATGTTTCTAGAAAT GGAGGTG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCACAC others(28): Show ACCCACACATCCATTTCTAGAAACATGCCCTCTGAC	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0133 a0001c0003t0002g0133	1	330	0.0030	35	c.132 others(52): Show c.132-4128_132-4127insGTCAGAGGGCATGTTTCTAGAAATGGAT GTGTGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63608967	A A	ACCCCACC others(28): Show ACCCCACCTCCATTTCCAGAAACATGCCCCTCTGAC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp1 HG02572.hp2 others(8): Show HG01496.hp2 HG02055.hp1 HG02572.hp2 HG02622.hp1 HG02886.hp2 HG03041.hp1 HG03130.hp2 HG03471.hp1 HG03540.hp2 HG06807.hp1 NA21309.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0018 a0001c0004t0019 a0001c0004t0004 a0001c0004t0018 a0001c0004t0019	a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0087 others(8): Show a0001c0004t0004g0080 a0001c0004t0004g0086 a0001c0004t0004g0087 a0001c0004t0004g0088 a0001c0004t0004g0090 a0001c0004t0004g0093 a0001c0004t0004g0094 a0001c0004t0004g0095 a0001c0004t0004g0099 a0001c0004t0018g0092 a0001c0004t0019g0081	11	330	0.0333	35	c.132 others(52): Show c.132-4128_132-4127insGTCAGAGGGGCATGTTTCTGGAAATGGA GGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609387	C C	CTCCATTT others(28): Show CTCCATTTCCAGAAACATGCCCCTCTGACCCACACA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0144 a0001c0003t0002g0144	1	330	0.0030	35	c.132 others(52): Show c.132-4548_132-4547insTGTGTGGGTCAGAGGGGCATGTTTCTGG AAATGGA		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609417	C C	CCACACAT others(28): Show CCACACATCCATTTCTAGAAACATGTCCCTCTGACT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02647.hp2 others(4): Show HG02451.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG03540.hp1 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0002 a0001c0001t0001 a0001c0003t0002	a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0122 others(3): Show a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0003t0002g0176	7	330	0.0212	35	c.132 others(52): Show c.132-4578_132-4577insAGTCAGAGGGACATGTTTCTAGAAATGG ATGTGTG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMEB2_chr20_63582605_63632101	63609550	A A	ACCCCACC others(28): Show ACCCCACCTCCATTTCTAGAAACATGCCCCTCTGAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp2 HG03195.hp2 others(1): Show HG01891.hp2 HG02897.hp2 HG03195.hp2 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085 a0001c0004t0004g0013 a0001c0004t0004g0082 a0001c0004t0004g0085	4	330	0.0121	35	c.132 others(52): Show c.132-4711_132-4710insGTCAGAGGGGCATGTTTCTAGAAATGGA GGTGGGG		GMEB2	ENSG00000101216.11	transcript	ENST00000370077.2	protein_coding	2/9						chr20	TogoVar
GMFG_chr19_39323359_39341043	39326702	A A	AGGGGGGG others(28): Show AGGGGGGGGAGGGGGAGGGGGAGAGGGGAAGGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	374	0.0027	35	c.17 others(46): Show c.1774_*1775insCTCCCCTTCCCCTCTCCCCCTCCCCCTCCCCCCC C		GMFG	ENSG00000130755.13	transcript	ENST00000597595.6	protein_coding					1656		chr19	TogoVar
GNA12_chr7_2723105_2849308	2812636	A A	AACATCAC others(28): Show AACATCACATCACATCACATCACATCACATCACATC	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0311 a0001c0001t0005g0311	1	322	0.0031	35	c.310 others(54): Show c.310-17528_310-17494dupGATGTGATGTGATGTGATGTGATGTG ATGTGATGT		GNA12	ENSG00000146535.14	transcript	ENST00000275364.8	protein_coding	1/3						chr7	TogoVar
GNA15_chr19_3131033_3168749	3140044	A A	AAAAATCT others(28): Show AAAAATCTATCTATCTATCTATCTATCTATCTATGT	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0350 a0001c0002t0001g0350	1	450	0.0022	35	c.145 others(52): Show c.145+3450_145+3451insAAATCTATCTATCTATCTATCTATCTAT CTATGTA		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr19	TogoVar
GNB5_chr15_52110100_52196392	52111173	A A	ACACACAC others(28): Show ACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0164 a0001c0001t0164	a0001c0001t0164g0235 a0001c0001t0164g0235	1	366	0.0027	35	c.11 others(48): Show c.11583_*11584insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTG		GNB5	ENSG00000069966.19	transcript	ENST00000261837.12	protein_coding					3926		chr15	TogoVar
GNG13_chr16_793041_805734	795536	C C	CCCCCCGT others(28): Show CCCCCCGTGCTGCCCGTGTGGCTGCCCCCTCCCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG02080.hp2 HG02602.hp1 others(13): Show HG00642.hp1 HG02080.hp2 HG02602.hp1 HG03669.hp1 HG03927.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18956.hp1 NA18969.hp2 NA18986.hp1 NA19006.hp1 NA19009.hp1 NA19055.hp2 NA19057.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0005 a0001c0002t0003g0032 a0001c0002t0003g0005 a0001c0002t0003g0032	16	422	0.0379	35	c.31 others(46): Show c.3182_*3183insATGGGGAGGGGGCAGCCACACGGGCAGCACGGGG G		GNG13	ENSG00000127588.5	transcript	ENST00000248150.5	protein_coding					2504		chr16	TogoVar
GNG4_chr1_235542685_235654784	235650265	G G	GGGTCTGG others(28): Show GGGTCTGGGGGACCGAGCCGTGGGGGAATCACTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG00597.hp2 others(137): Show HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18957.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18981.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp2 NA19065.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp2 NA19084.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(71): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0055 a0001c0001t0058 a0001c0001t0065 a0001c0001t0068 a0001c0001t0069 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0084 a0001c0001t0086 a0001c0001t0090 a0001c0001t0102 a0001c0001t0105 a0001c0001t0107 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0013 a0001c0002t0016 a0001c0002t0024 a0001c0002t0025 a0001c0002t0027 a0001c0002t0031 a0001c0002t0033 a0001c0002t0034 a0001c0002t0037 a0001c0002t0044 a0001c0002t0045 a0001c0002t0046 a0001c0002t0053 a0001c0002t0054 a0001c0002t0060 a0001c0002t0062 a0001c0002t0094 a0001c0002t0095 a0001c0002t0096 a0001c0002t0097 a0001c0002t0098 a0001c0002t0106	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 others(137): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0081 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0257 a0001c0001t0001g0266 a0001c0001t0001g0271 a0001c0001t0003g0050 a0001c0001t0003g0071 a0001c0001t0003g0077 a0001c0001t0003g0151 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0005g0039 a0001c0001t0005g0254 a0001c0001t0006g0100 a0001c0001t0006g0105 a0001c0001t0006g0239 a0001c0001t0007g0096 a0001c0001t0007g0097 a0001c0001t0008g0030 a0001c0001t0008g0241 a0001c0001t0008g0265 a0001c0001t0010g0048 a0001c0001t0010g0094 a0001c0001t0012g0250 a0001c0001t0012g0258 a0001c0001t0012g0259 a0001c0001t0014g0014 a0001c0001t0014g0110 a0001c0001t0014g0256 a0001c0001t0017g0238 a0001c0001t0018g0089 a0001c0001t0018g0272 a0001c0001t0019g0004 a0001c0001t0019g0008 a0001c0001t0019g0013 a0001c0001t0021g0075 a0001c0001t0021g0084 a0001c0001t0022g0263 a0001c0001t0023g0074 a0001c0001t0024g0005 a0001c0001t0025g0260 a0001c0001t0026g0247 a0001c0001t0026g0248 a0001c0001t0032g0052 a0001c0001t0032g0262 a0001c0001t0038g0029 a0001c0001t0039g0028 a0001c0001t0040g0324 a0001c0001t0041g0025 a0001c0001t0047g0068 a0001c0001t0049g0037 a0001c0001t0050g0062 a0001c0001t0051g0264 a0001c0001t0052g0053 a0001c0001t0055g0041 a0001c0001t0058g0107 a0001c0001t0065g0090 a0001c0001t0068g0098 a0001c0001t0069g0085 a0001c0001t0072g0246 a0001c0001t0074g0083 a0001c0001t0075g0060 a0001c0001t0076g0076 a0001c0001t0077g0042 a0001c0001t0078g0061 a0001c0001t0079g0082 a0001c0001t0081g0240 a0001c0001t0082g0027 a0001c0001t0084g0036 a0001c0001t0086g0026 a0001c0001t0090g0255 a0001c0001t0102g0031 a0001c0001t0105g0330 a0001c0001t0107g0327 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0040 a0001c0002t0002g0066 a0001c0002t0002g0067 a0001c0002t0002g0078 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0174 a0001c0002t0002g0269 a0001c0002t0002g0275 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0092 a0001c0002t0003g0102 a0001c0002t0004g0007 a0001c0002t0004g0009 a0001c0002t0004g0051 a0001c0002t0004g0249 a0001c0002t0013g0091 a0001c0002t0013g0242 a0001c0002t0013g0244 a0001c0002t0013g0245 a0001c0002t0016g0095 a0001c0002t0024g0243 a0001c0002t0025g0019 a0001c0002t0027g0010 a0001c0002t0031g0006 a0001c0002t0031g0108 a0001c0002t0033g0326 a0001c0002t0033g0329 a0001c0002t0034g0001 a0001c0002t0037g0018 a0001c0002t0044g0261 a0001c0002t0045g0024 a0001c0002t0046g0015 a0001c0002t0053g0003 a0001c0002t0054g0103 a0001c0002t0060g0093 a0001c0002t0062g0274 a0001c0002t0094g0038 a0001c0002t0095g0055 a0001c0002t0096g0069 a0001c0002t0097g0270 a0001c0002t0098g0045 a0001c0002t0106g0328	140	330	0.4242	35	c.-72 others(44): Show c.-727_-726insTCCAGTGATTCCCCCACGGCTCGGTCCCCCAGACC		GNG4	ENSG00000168243.11	transcript	ENST00000391854.7	protein_coding					482		chr1	TogoVar
GNG7_chr19_2506219_2707694	2655859	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0010 a0001c0001t0030g0010	1	206	0.0049	35	c.-13 others(54): Show c.-134-9580_-134-9579insATATATATATATATATATATATATAT ATATATTTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNL3_chr3_52681032_52699497	52683812	T T	TCTCCAAA others(28): Show TCTCCAAAAAAAACAAAAAAAAAGTGCACTTGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00438.hp1 HG00544.hp1 others(180): Show HG00323.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp2 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18966.hp2 NA18967.hp1 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0002 a0003 a0004 others(5): Show a0002 a0003 a0004 a0007 a0008 a0009 a0011 a0012	a0002c0002 a0002c0006 a0003c0003 others(8): Show a0002c0002 a0002c0006 a0003c0003 a0003c0004 a0003c0007 a0004c0005 a0007c0010 a0008c0011 a0009c0012 a0011c0013 a0012c0014	a0002c0002t0002 a0002c0006t0002 a0003c0003t0003 others(8): Show a0002c0002t0002 a0002c0006t0002 a0003c0003t0003 a0003c0004t0002 a0003c0007t0002 a0004c0005t0002 a0007c0010t0002 a0008c0011t0002 a0009c0012t0002 a0011c0013t0002 a0012c0014t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0012 others(48): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0028 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0033 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0068 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0006t0002g0002 a0003c0003t0003g0004 a0003c0003t0003g0009 a0003c0003t0003g0038 a0003c0004t0002g0007 a0003c0004t0002g0015 a0003c0004t0002g0016 a0003c0004t0002g0020 a0003c0004t0002g0024 a0003c0004t0002g0034 a0003c0004t0002g0035 a0003c0004t0002g0036 a0003c0004t0002g0037 a0003c0007t0002g0027 a0003c0007t0002g0049 a0004c0005t0002g0015 a0004c0005t0002g0016 a0004c0005t0002g0017 a0004c0005t0002g0025 a0007c0010t0002g0013 a0008c0011t0002g0069 a0009c0012t0002g0002 a0011c0013t0002g0015 a0012c0014t0002g0020	183	394	0.4645	35	c.-22 others(46): Show c.-2281_-2280insCTCCAAAAAAAACAAAAAAAAAGTGCACTTGAGA C		GNL3	ENSG00000163938.17	transcript	ENST00000418458.6	protein_coding					2219		chr3	TogoVar
GNPTAB_chr12_101740499_101835959	101833180	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA19060.hp1 NA18974.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0246 a0001c0003t0003g0146 a0001c0001t0004g0246 a0001c0003t0003g0146	2	392	0.0051	35	c.-25 others(46): Show c.-2506_-2505insATATATATATATATATATATATATATATATATAT A		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2222		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 NA18747.hp2 HG00597.hp1 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0004 a0001c0008t0004 a0001c0001t0004 a0001c0008t0004	a0001c0001t0004g0234 a0001c0008t0004g0217 a0001c0001t0004g0234 a0001c0008t0004g0217	2	392	0.0051	35	c.-25 others(46): Show c.-2508_-2507insATATATATATATATATATATATATATATATATAT T		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GNPTAB_chr12_101740499_101835959	101833182	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	392	0.0026	35	c.-25 others(46): Show c.-2508_-2507insATATATATATATATATATATATATATATATATAT A		GNPTAB	ENSG00000111670.16	transcript	ENST00000299314.12	protein_coding					2224		chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132768466	T T	TTAATGAC others(28): Show TTAATGACCAAAATCAAAGTATGGATGAAAAAGACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 NA18956.hp1 NA18957.hp2 others(4): Show HG02155.hp2 NA18956.hp1 NA18957.hp2 NA19058.hp2 NA19064.hp2 NA19087.hp2 NA19088.hp1	a0001 a0001	a0001c0003 a0001c0023 a0001c0003 a0001c0023	a0001c0003t0004 a0001c0003t0011 a0001c0023t0004 a0001c0003t0004 a0001c0003t0011 a0001c0023t0004	a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0158 others(4): Show a0001c0003t0004g0144 a0001c0003t0004g0145 a0001c0003t0004g0158 a0001c0003t0004g0162 a0001c0003t0011g0147 a0001c0003t0011g0157 a0001c0023t0004g0160	7	308	0.0227	35	c.46 others(46): Show c.4638_*4639insCGTCTTTTTCATCCATACTTTGATTTTGGTCATT A		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding					447		chr12	TogoVar
GOLGA8A_chr15_34374068_34442808	34422730	C C	CTTCGCTC others(28): Show CTTCGCTCATTTTTTCTCTACTTTTACTTCTTATTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0082 a0001c0001t0007g0082	1	245	0.0041	35	c.-11 others(58): Show c.-1123+12652_-1123+12653insAAATAAGAAGTAAAAGTAGAGA AAAAATGAGCGAA		GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	2/24						chr15	TogoVar
GOLGA8O_chr15_32436914_32460634	32445679	A A	ATATTAGC others(28): Show ATATTAGCACAAGGCCTTTATAACTGCATACACACG	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	HG02976.hp1 HG02976.hp1	a0030 a0030	a0030c0051 a0030c0051	a0030c0051t0007 a0030c0051t0007	a0030c0051t0007g0170 a0030c0051t0007g0170	1	214	0.0047	35	c.150 others(44): Show c.1505_1506insCGTGTGTATGCAGTTATAAAGGCCTTGTGCTAATA	p.Ala others(5): Show p.Ala503fs	GOLGA8O	ENSG00000206127.11	transcript	ENST00000509311.7	protein_coding	17/19	1603/5189	1505/1899	502/632			chr15	TogoVar
GPAT3_chr4_83531108_83610875	83562214	T T	TATATATA others(28): Show TATATATATATAATATATATATATTATATATATATA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0310 a0001c0001t0004g0310	1	334	0.0030	35	c.208 others(54): Show c.208+17634_208+17635insTTATATATATATAATATATATATAAT ATATATATA		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPAT3_chr4_83531108_83610875	83578948	T T	TTTCTTTC others(28): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	334	0.0030	35	c.209 others(52): Show c.209-2612_209-2611insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTT		GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr4	TogoVar
GPATCH2_chr1_217421992_217636090	217524904	G G	GGGGGAGG others(28): Show GGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	188	0.0053	35	c.109 others(56): Show c.1099-10016_1099-10015insTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCC		GPATCH2	ENSG00000092978.11	transcript	ENST00000366935.8	protein_coding	5/9						chr1	TogoVar
GPATCH8_chr17_44390281_44508406	44483176	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0218 a0001c0004t0001g0218	1	326	0.0031	35	c.46- others(50): Show c.46-8274_46-8273insATATATATATATATATATATATTTTTTTTT TTTTT		GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	1/7						chr17	TogoVar

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