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
GALNTL6_chr4_171808404_173046559	172405423	ATATATAT others(24): Show ATATATATATATATATATATATTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	40	0.0250	-31	c.553 others(50): Show c.553+56736_553+56766delATATATATATATATATATATTTTTTT TTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GALNTL6_chr4_171808404_173046559	172405425	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp2 HG02451.hp1 others(10): Show HG02145.hp1 HG02145.hp2 HG02451.hp1 HG02647.hp2 HG02735.hp2 HG02965.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03516.hp2 NA18906.hp1 NA18906.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0034 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0003g0019 a0001c0001t0009g0024 a0001c0002t0001g0016 a0001c0002t0002g0007 a0001c0003t0001g0005	13	40	0.3250	-31	c.553 others(50): Show c.553+56738_553+56768delATATATATATATATATATTTTTTTTT TTTTT	GALNTL6	ENSG00000174473.17	transcript	ENST00000506823.6	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
GARIN5B_chr19_55349908_55368260	55361826	CTCCTCCC others(24): Show CTCCTCCCTCAGACCCAGGAGAGTTCAGACTG	C C	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	356	0.0028	-31	c.564 others(46): Show c.564+388_565-393delCAGTCTGAACTCTCCTGGGTCTGAGGGAGG A	GARIN5B	ENSG00000180043.11	transcript	ENST00000424985.3	protein_coding	3/10			chr19	TogoVar
GATD1_chr11_762222_782487	763283	CCCCCGCC others(24): Show CCCCCGCCCTCACCTGTCCCCGCCCTCACCTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02165.hp2 others(5): Show HG01891.hp1 HG02145.hp1 HG02165.hp2 HG02258.hp2 HG02572.hp2 HG02723.hp2 HG02896.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0003 a0001c0002t0037 a0001c0003t0003 others(1): Show a0001c0002t0003 a0001c0002t0037 a0001c0003t0003 a0001c0004t0049	a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0037g0075 others(2): Show a0001c0002t0003g0006 a0001c0002t0003g0007 a0001c0002t0037g0075 a0001c0003t0003g0019 a0001c0004t0049g0084	8	430	0.0186	-31	c.75 others(42): Show c.7583_*7613delCAGGTGAGGGCGGGGACAGGTGAGGGCGGGG	GATD1	ENSG00000177225.17	transcript	ENST00000319863.13	protein_coding		3938		chr11	TogoVar
GCH1_chr14_54837017_54907826	54880692	CATATATA others(24): Show CATATATATATACTCCATATATATATACTCAT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(59): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00673.hp1 HG00735.hp1 HG01099.hp1 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01981.hp2 HG01993.hp2 HG02071.hp1 HG02074.hp1 HG02258.hp1 HG02523.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03579.hp1 HG03834.hp1 HG06807.hp2 NA18612.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18947.hp2 NA18949.hp2 NA18952.hp1 NA18954.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18973.hp1 NA18977.hp2 NA18980.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA19000.hp1 NA19010.hp1 NA19055.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19074.hp1 NA19074.hp2 NA19082.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0016 a0001c0002t0002	a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0115 others(59): Show a0001c0001t0001g0055 a0001c0001t0001g0070 a0001c0001t0001g0115 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0002g0019 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0131 a0001c0001t0002g0157 a0001c0001t0002g0301 a0001c0001t0012g0324 a0001c0001t0012g0325 a0001c0001t0012g0326 a0001c0001t0016g0063 a0001c0001t0016g0085 a0001c0002t0002g0303	62	346	0.1792	-31	c.344 others(50): Show c.344-15287_344-15257delATGAGTATATATATATGGAGTATATA TATAT	GCH1	ENSG00000131979.20	transcript	ENST00000491895.7	protein_coding	1/5			chr14	TogoVar
GCNT1_chr9_76454182_76512416	76509725	TGCCTCAG others(24): Show TGCCTCAGCCTCCCGAGTAGCTGGGACTACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0064 a0002c0002t0001g0064	1	370	0.0027	-31	c.60 others(42): Show c.6058_*6088delGCCTCAGCCTCCCGAGTAGCTGGGACTACAG	GCNT1	ENSG00000187210.14	transcript	ENST00000376730.5	protein_coding		2310		chr9	TogoVar
GET1_chr21_39375326_39402889	39378596	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	338	0.0030	-31	c.-17 others(42): Show c.-1788_-1758delTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	GET1	ENSG00000182093.16	transcript	ENST00000649170.1	protein_coding		1729		chr21	TogoVar
GFRAL_chr6_55322469_55407493	55383258	TAAGGATC others(24): Show TAAGGATCACATTTTAAATAGCAATTACCTCA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02486.hp2 others(5): Show HG01891.hp1 HG02280.hp2 HG02486.hp2 HG02559.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp1 HG03471.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0004 a0002c0002t0006 a0003c0003t0002 a0002c0002t0004 a0002c0002t0006 a0003c0003t0002	a0002c0002t0004g0111 a0002c0002t0004g0125 a0002c0002t0004g0148 others(5): Show a0002c0002t0004g0111 a0002c0002t0004g0125 a0002c0002t0004g0148 a0002c0002t0004g0149 a0002c0002t0004g0150 a0002c0002t0004g0151 a0002c0002t0006g0115 a0003c0003t0002g0135	8	386	0.0207	-31	c.953 others(50): Show c.953-15920_953-15890delAGGATCACATTTTAAATAGCAATTAC CTCAA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GGT1_chr22_24598193_24633996	24605099	GTATTATA others(24): Show GTATTATATTATATATTATATAATATGTAATA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	426	0.0024	-31	c.-42 others(50): Show c.-429+1581_-429+1611delTATATATTATATAATATGTAATATAT TATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605177	GTAATATA others(24): Show GTAATATATTATATAATATATAATATGTATTA	G G	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03704.hp1 NA18964.hp2 HG03688.hp2 HG03704.hp1 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0002 a0001c0006 a0002c0002	a0001c0006t0002 a0002c0002t0002 a0001c0006t0002 a0002c0002t0002	a0001c0006t0002g0411 a0001c0006t0002g0412 a0002c0002t0002g0288 a0001c0006t0002g0411 a0001c0006t0002g0412 a0002c0002t0002g0288	3	426	0.0070	-31	c.-42 others(50): Show c.-429+1653_-429+1683delATATATTATATAATATATAATATGTA TTATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605440	ATATATAA others(24): Show ATATATAATGTGTATTATATATAATATAATAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18955.hp2 NA18962.hp1 NA18948.hp2 NA18955.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232	3	426	0.0070	-31	c.-42 others(50): Show c.-429+1935_-429+1965delAATATAATATTATATAATGTGTATTA TATAT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605878	ATATATGA others(24): Show ATATATGATGTGTATTATATATTATATAATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03831.hp1 HG01167.hp2 HG01169.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0009 a0002c0002 a0001c0009 a0002c0002	a0001c0009t0001 a0002c0002t0001 a0001c0009t0001 a0002c0002t0001	a0001c0009t0001g0005 a0002c0002t0001g0083 a0001c0009t0001g0005 a0002c0002t0001g0083	3	426	0.0070	-31	c.-42 others(50): Show c.-428-2048_-428-2018delATATTATATGATGTGTATTATATATT ATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT6_chr17_4551927_4565577	4564670	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01884.hp1 others(20): Show HG00639.hp1 HG01243.hp1 HG01884.hp1 HG01891.hp2 HG02109.hp1 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp2 HG02818.hp2 HG02970.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03516.hp2 HG03579.hp2 HG03688.hp1 NA18956.hp1 NA18994.hp1 NA19057.hp2 NA19078.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0004c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0004 a0001c0002t0006 a0001c0002t0017 a0003c0004t0005 a0004c0007t0010	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0005g0029 others(7): Show a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0001t0005g0029 a0001c0001t0007g0006 a0001c0002t0002g0002 a0001c0002t0004g0003 a0001c0002t0006g0009 a0001c0002t0017g0042 a0003c0004t0005g0014 a0004c0007t0010g0017	23	458	0.0502	-31	c.-41 others(42): Show c.-4180_-4150delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding		4094		chr17	TogoVar
GH2_chr17_63875215_63886944	63875569	TTTCTTTC others(24): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	426	0.0024	-31	c.47 others(42): Show c.4721_*4751delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	GH2	ENSG00000136487.18	transcript	ENST00000423893.7	protein_coding		4645		chr17	TogoVar
GHR_chr5_42418439_42726878	42579124	TAGATAGA others(24): Show TAGATAGATAGATAGATGATAGATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0049 a0002c0002t0006g0049	1	210	0.0048	-31	c.70+ others(48): Show c.70+13182_70+13212delGATAGATAGATAGATGATAGATAGATAT AGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42579128	TAGATAGA others(24): Show TAGATAGATAGATGATAGATAGATATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0019 a0006c0010t0019	a0006c0010t0019g0102 a0006c0010t0019g0102	1	210	0.0048	-31	c.70+ others(48): Show c.70+13186_70+13216delGATAGATAGATGATAGATAGATATAGAT AGA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GINM1_chr6_149561375_149596748	149562283	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02970.hp1 HG03579.hp1 others(2): Show HG02922.hp2 HG02970.hp1 HG03579.hp1 HG06807.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0020 a0001c0001t0001 a0001c0001t0006 a0001c0001t0020	a0001c0001t0001g0006 a0001c0001t0006g0015 a0001c0001t0020g0042 a0001c0001t0001g0006 a0001c0001t0006g0015 a0001c0001t0020g0042	5	380	0.0132	-31	c.-41 others(42): Show c.-4131_-4101delATATATATATATATATATATATATATATATA	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		4091		chr6	TogoVar
GJA10_chr6_89889469_89901120	89900165	TCTGGATG others(24): Show TCTGGATGTACCGCAGTTTATTTACCCATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	386	0.0026	-31	c.40 others(42): Show c.4066_*4096delCTGGATGTACCGCAGTTTATTTACCCATTTA	GJA10	ENSG00000135355.4	transcript	ENST00000369352.1	protein_coding		4046		chr6	TogoVar
GJA9_chr1_38869069_38886587	38882300	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(116): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00642.hp2 HG00733.hp2 HG00738.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01515.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18978.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19004.hp2 NA19005.hp2 NA19054.hp2 NA19055.hp2 NA19059.hp1 NA19062.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19075.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0005 a0006 others(1): Show a0002 a0005 a0006 a0011	a0002c0002 a0005c0008 a0006c0009 others(1): Show a0002c0002 a0005c0008 a0006c0009 a0011c0010	a0002c0002t0001 a0002c0002t0003 a0005c0008t0001 others(2): Show a0002c0002t0001 a0002c0002t0003 a0005c0008t0001 a0006c0009t0001 a0011c0010t0001	a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 others(47): Show a0002c0002t0001g0006 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0014 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0023 a0002c0002t0001g0038 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0098 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0113 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0122 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0003g0039 a0002c0002t0003g0108 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0120 a0005c0008t0001g0123 a0005c0008t0001g0125 a0005c0008t0001g0127 a0005c0008t0001g0138 a0006c0009t0001g0114 a0006c0009t0001g0117 a0011c0010t0001g0111	119	444	0.2680	-31	c.-99 others(40): Show c.-995_-965delATATATATATATATATATATATATATATATA	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		714		chr1	TogoVar
GJB6_chr13_20216962_20237319	20236957	TCATGATC others(24): Show TCATGATCTGCCCGTCTCGGCCTCCCAAAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	460	0.0022	-31	c.-52 others(42): Show c.-5214_-5184delCACTTTGGGAGGCCGAGACGGGCAGATCATG	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		4639		chr13	TogoVar
GJC2_chr1_228144930_228164826	228157117	GGTGGAGG others(24): Show GGTGGAGGGACCCCGACGCCCCTGTCCAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp1 HG00621.hp2 others(27): Show HG00544.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01884.hp1 HG01884.hp2 HG02074.hp2 HG02109.hp2 HG02280.hp2 HG02717.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp1 HG06807.hp1 NA18522.hp1 NA18964.hp1 NA18970.hp1 NA18993.hp2 NA19012.hp1 NA19066.hp1 NA19089.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0005 a0002c0007 others(1): Show a0001c0001 a0001c0005 a0002c0007 a0003c0006	a0001c0001t0002 a0001c0005t0002 a0002c0007t0005 others(2): Show a0001c0001t0002 a0001c0005t0002 a0002c0007t0005 a0002c0007t0009 a0003c0006t0002	a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0021 others(8): Show a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0035 a0001c0001t0002g0066 a0001c0005t0002g0015 a0002c0007t0005g0043 a0002c0007t0005g0086 a0002c0007t0009g0087 a0003c0006t0002g0008 a0003c0006t0002g0067	30	414	0.0725	-31	c.-19 others(46): Show c.-19-582_-19-552delCCCCGACGCCCCTGTCCAGGGTGTGGAGGG A	GJC2	ENSG00000198835.4	transcript	ENST00000366714.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
GLB1L3_chr11_134271379_134324564	134308475	TACCACCA others(24): Show TACCACCACCACCATCACCACCAAATACCACC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01069.hp2 HG01071.hp1 others(14): Show HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01978.hp1 HG02055.hp2 HG02698.hp1 HG02818.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03579.hp2 HG03688.hp2 HG03927.hp2 HG06807.hp2 NA18978.hp2 NA19075.hp2 NA20752.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0007 a0001c0002 a0003c0007	a0001c0002t0001 a0001c0002t0002 a0003c0007t0001 a0001c0002t0001 a0001c0002t0002 a0003c0007t0001	a0001c0002t0001g0019 a0001c0002t0001g0127 a0001c0002t0001g0163 others(12): Show a0001c0002t0001g0019 a0001c0002t0001g0127 a0001c0002t0001g0163 a0001c0002t0001g0271 a0001c0002t0001g0283 a0001c0002t0002g0033 a0001c0002t0002g0260 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0275 a0001c0002t0002g0279 a0001c0002t0002g0357 a0001c0002t0002g0369 a0003c0007t0001g0117	17	422	0.0403	-31	c.962 others(48): Show c.962-1136_962-1106delCACCACCAAATACCACCACCACCACCAC CAT	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLRX3_chr10_130131391_130184672	130184106	GCACGTGC others(24): Show GCACGTGCACTGACTCACTGGCTGCAGCAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01109.hp1 others(25): Show HG00642.hp1 HG00741.hp2 HG01109.hp1 HG01175.hp2 HG01255.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG01943.hp2 HG01978.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp2 HG02809.hp2 HG02922.hp2 HG03453.hp1 NA18522.hp2 NA18960.hp2 NA18962.hp2 NA18971.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0036 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0385 a0001c0004t0001g0029	28	424	0.0660	-31	c.47 others(42): Show c.4715_*4745delCACGTGCACTGACTCACTGGCTGCAGCAGAA	GLRX3	ENSG00000108010.12	transcript	ENST00000331244.10	protein_coding		4435		chr10	TogoVar
GLT1D1_chr12_128848478_128989968	128881544	AAAAAAAA others(24): Show AAAAAAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0318 a0003c0005t0002g0318	1	320	0.0031	-31	c.217 others(48): Show c.217+5484_217+5514delAAAAAAAAAAAAAAAAATATATATATAT ATA	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	103990076	CAAATATA others(24): Show CAAATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0191 a0001c0001t0003g0191	1	416	0.0024	-31	c.881 others(46): Show c.881-530_881-500delTATATATATATATATATATATATATATATT T	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	10/10			chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021981	GAGGAAGA others(24): Show GAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	G G	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0270 a0002c0002t0001g0270	1	416	0.0024	-31	c.-16 others(48): Show c.-163-521_-163-491delTCTTCTTCTTCTTCTTCTTCTTCTTCTT CCT	GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10			chr12	TogoVar
GLYATL2_chr11_58829065_58849704	58830963	TCCCACTG others(24): Show TCCCACTGCGTGGCTTCTCTCCGCTGTCAGCG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00408.hp2 others(165): Show HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp2 HG02647.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp1 HG03540.hp2 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp2 NA19004.hp1 NA19006.hp1 NA19007.hp2 NA19009.hp1 NA19011.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp2 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA20129.hp1	a0002 a0005 a0009 others(1): Show a0002 a0005 a0009 a0010	a0002c0002 a0002c0006 a0005c0004 others(2): Show a0002c0002 a0002c0006 a0005c0004 a0009c0007 a0010c0011	a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 others(8): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0002t0009 a0002c0006t0002 a0005c0004t0001 a0005c0004t0002 a0009c0007t0010 a0010c0011t0002	a0002c0002t0001g0080 a0002c0002t0002g0003 a0002c0002t0002g0004 others(54): Show a0002c0002t0001g0080 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0006 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0021 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0004g0022 a0002c0002t0006g0047 a0002c0002t0008g0104 a0002c0002t0009g0081 a0002c0006t0002g0095 a0005c0004t0001g0077 a0005c0004t0002g0113 a0009c0007t0010g0101 a0010c0011t0002g0085	168	380	0.4421	-31	c.34 others(42): Show c.3435_*3465delCGCTGACAGCGGAGAGAAGCCACGCAGTGGG	GLYATL2	ENSG00000156689.7	transcript	ENST00000287275.6	protein_coding		3101		chr11	TogoVar
GMDS_chr6_1618806_2250605	1652669	TATAATAT others(24): Show TATAATATATATTATTTATATATAATATATTA	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01106.hp2 others(30): Show HG00544.hp1 HG01069.hp1 HG01106.hp2 HG01175.hp1 HG01261.hp1 HG01934.hp1 HG02027.hp1 HG02027.hp2 HG02109.hp1 HG02135.hp2 HG02258.hp1 HG02273.hp1 HG02559.hp1 HG02717.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03471.hp1 HG03491.hp2 HG03710.hp1 HG03834.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp2 NA18950.hp2 NA18979.hp1 NA19003.hp1 NA19010.hp1 NA19043.hp2 NA19063.hp2 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005	a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0063 others(30): Show a0001c0001t0001g0006 a0001c0001t0001g0031 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0089 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0135 a0001c0001t0002g0040 a0001c0001t0002g0072 a0001c0001t0002g0119 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0026 a0001c0002t0001g0032 a0001c0002t0001g0048 a0001c0002t0001g0054 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0112 a0001c0002t0001g0116 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0141 a0001c0002t0001g0147 a0001c0002t0001g0164 a0001c0002t0002g0009 a0001c0002t0002g0077 a0001c0002t0002g0111 a0001c0002t0005g0019	33	166	0.1988	-31	c.988 others(50): Show c.988-28160_988-28130delTAATATATTATATATAAATAATATAT ATTAT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	9/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1897918	CGGCCACC others(24): Show CGGCCACCCTTGCCATCCTGGACACCTATCCT	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	166	0.0060	-31	c.771 others(50): Show c.771+32154_771+32184delAGGATAGGTGTCCAGGATGGCAAGGG TGGCC	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1897946	TCCTGGCC others(24): Show TCCTGGCCACCCTTGCCATCCTGGACACCTAC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01071.hp1 others(23): Show HG00544.hp1 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01433.hp2 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02273.hp1 HG02280.hp2 HG02965.hp2 HG03017.hp2 HG03491.hp1 HG03669.hp2 NA18941.hp1 NA18948.hp1 NA18979.hp2 NA18998.hp2 NA19003.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19079.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0023 a0001c0001t0001g0102 a0001c0001t0001g0123 others(23): Show a0001c0001t0001g0023 a0001c0001t0001g0102 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0135 a0001c0001t0001g0161 a0001c0001t0002g0062 a0001c0002t0001g0013 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0100 a0001c0002t0001g0109 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0147 a0001c0002t0001g0152 a0001c0002t0002g0008	26	166	0.1566	-31	c.771 others(50): Show c.771+32126_771+32156delGTAGGTGTCCAGGATGGCAAGGGTGG CCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898070	CCCTGGCC others(24): Show CCCTGGCCTCCCTTGCCATCCTGGACACCTAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 NA20129.hp2 NA21309.hp2 HG02615.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0002t0002g0059 a0001c0001t0001g0058 a0001c0001t0001g0084 a0001c0002t0002g0059	3	166	0.0181	-31	c.771 others(50): Show c.771+32002_771+32032delATAGGTGTCCAGGATGGCAAGGGAGG CCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GMDS_chr6_1618806_2250605	1898101	TCCTGGCC others(24): Show TCCTGGCCTCCCTTGCCATCCTGGACACCTAC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01106.hp2 others(15): Show HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01175.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG03491.hp1 HG06807.hp2 NA18948.hp1 NA18950.hp2 NA18979.hp2 NA18994.hp1 NA19003.hp1 NA19009.hp2 NA19010.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0070 others(15): Show a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0070 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0135 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0048 a0001c0002t0001g0053 a0001c0002t0001g0067 a0001c0002t0001g0132 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0152 a0001c0002t0005g0019	18	166	0.1084	-31	c.771 others(50): Show c.771+31971_771+32001delGTAGGTGTCCAGGATGGCAAGGGAGG CCAGG	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNA14_chr9_77418079_77653322	77641100	GGAAGGAA others(24): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 NA19088.hp2 HG02257.hp1 NA19088.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0002 a0001c0012t0004 a0001c0002t0002 a0001c0012t0004	a0001c0002t0002g0215 a0001c0012t0004g0165 a0001c0002t0002g0215 a0001c0012t0004g0165	2	240	0.0083	-31	c.124 others(48): Show c.124+6539_124+6569delTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTC	GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6			chr9	TogoVar
GNA15_chr19_3131033_3168749	3135836	AAAAAAAA others(24): Show AAAAAAAAATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0267 a0001c0001t0001g0157 a0001c0001t0001g0267	2	450	0.0044	-31	c.-61 others(40): Show c.-614_-584delAAAAAAAATATATATATATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		196		chr19	TogoVar
GNA15_chr19_3131033_3168749	3135838	AAAAAAAT others(24): Show AAAAAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(79): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01993.hp1 HG02083.hp1 HG02148.hp2 HG02293.hp2 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp2 HG03516.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04115.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18944.hp1 NA18951.hp2 NA18962.hp1 NA18967.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19054.hp2 NA19070.hp2 NA20129.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0008 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0003t0015 a0001c0004t0001 a0001c0008t0001	a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0064 others(76): Show a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0254 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0289 a0001c0001t0003g0221 a0001c0001t0003g0223 a0001c0001t0003g0233 a0001c0001t0010g0098 a0001c0001t0011g0274 a0001c0002t0001g0090 a0001c0002t0001g0137 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0273 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0008g0360 a0001c0003t0001g0011 a0001c0003t0001g0012 a0001c0003t0001g0089 a0001c0003t0001g0133 a0001c0003t0001g0135 a0001c0003t0001g0136 a0001c0003t0001g0212 a0001c0003t0001g0226 a0001c0003t0001g0229 a0001c0003t0001g0231 a0001c0003t0001g0232 a0001c0003t0001g0235 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0246 a0001c0003t0001g0253 a0001c0003t0001g0257 a0001c0003t0001g0259 a0001c0003t0001g0280 a0001c0003t0003g0010 a0001c0003t0003g0055 a0001c0003t0003g0220 a0001c0003t0003g0225 a0001c0003t0003g0234 a0001c0003t0008g0326 a0001c0003t0015g0239 a0001c0004t0001g0143 a0001c0004t0001g0189 a0001c0004t0001g0190 a0001c0008t0001g0056	82	450	0.1822	-31	c.-61 others(40): Show c.-612_-582delAAAAAATATATATATATATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		194		chr19	TogoVar
GNA15_chr19_3131033_3168749	3135840	AAAAATAT others(24): Show AAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	450	0.0022	-31	c.-61 others(40): Show c.-610_-580delAAAATATATATATATATATATATATATATAT	GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding		192		chr19	TogoVar
GNB4_chr3_179391088_179456470	179425639	TTTTCTAT others(24): Show TTTTCTATTTTTAGTAGAGACAGAGTTTCACC	T T	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0126 a0002c0005t0002g0126	1	400	0.0025	-31	c.57+ others(44): Show c.57+474_57+504delGGTGAAACTCTGTCTCTACTAAAAATAGAAA	GNB4	ENSG00000114450.11	transcript	ENST00000232564.8	protein_coding	2/9			chr3	TogoVar
GNG11_chr7_93916735_93933610	93930205	CCTTCCTT others(24): Show CCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00738.hp1 others(15): Show HG00423.hp1 HG00438.hp1 HG00738.hp1 HG01255.hp1 HG01255.hp2 HG01943.hp2 HG01952.hp2 HG02135.hp1 NA18954.hp2 NA18957.hp2 NA19004.hp2 NA19009.hp1 NA19058.hp2 NA19062.hp1 NA19074.hp2 NA19079.hp2 NA19088.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0026 a0001c0001t0001 a0001c0001t0006 a0001c0001t0026	a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0006g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0026g0002	18	438	0.0411	-31	c.39 others(42): Show c.3990_*4020delCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTT	GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding		1596		chr7	TogoVar
GNG11_chr7_93916735_93933610	93930209	CCTTCCTT others(24): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01361.hp1 others(21): Show HG01243.hp1 HG01243.hp2 HG01361.hp1 HG01884.hp2 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02717.hp2 HG02886.hp1 HG02922.hp2 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 NA18906.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0019 a0001c0001t0007 a0001c0001t0008 a0001c0001t0019	a0001c0001t0007g0008 a0001c0001t0007g0013 a0001c0001t0007g0026 others(2): Show a0001c0001t0007g0008 a0001c0001t0007g0013 a0001c0001t0007g0026 a0001c0001t0008g0009 a0001c0001t0019g0022	24	438	0.0548	-31	c.39 others(42): Show c.3994_*4024delCTTCCTTCCTTCCTTCCTTTCTTTCTTCTTT	GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding		1600		chr7	TogoVar
GNG7_chr19_2506219_2707694	2657348	AAAAAAAA others(24): Show AAAAAAAAAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	206	0.0049	-31	c.-13 others(52): Show c.-134-11099_-134-11069delATATATATATATATATATTTTTTT TTTTTTT	GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4			chr19	TogoVar
GOLGA3_chr12_132763914_132833869	132817590	TCCACGCT others(24): Show TCCACGCTCTAAGGTGAACTCACCCTCCACAC	T T	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	308	0.0033	-31	c.134 others(46): Show c.134-809_134-779delGTGTGGAGGGTGAGTTCACCTTAGAGCGTG G	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GP6_chr19_55008705_55043264	55029343	TATATATA others(24): Show TATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18969.hp1 NA18971.hp1 others(1): Show NA18952.hp1 NA18969.hp1 NA18971.hp1 NA18988.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0042 a0003c0003t0003g0070 a0003c0003t0003g0246 others(1): Show a0003c0003t0003g0042 a0003c0003t0003g0070 a0003c0003t0003g0246 a0003c0003t0003g0247	4	441	0.0091	-31	c.326 others(48): Show c.326-1512_326-1482delTATATATATATATATATATATATATATA TAT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029344	ATATATAT others(24): Show ATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02135.hp1 HG04204.hp1 others(3): Show HG00621.hp1 HG02135.hp1 HG04204.hp1 NA18963.hp1 NA19075.hp2 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0021 a0003c0003t0003g0028 a0003c0003t0003g0030 others(3): Show a0003c0003t0003g0021 a0003c0003t0003g0028 a0003c0003t0003g0030 a0003c0003t0003g0033 a0003c0003t0003g0056 a0003c0003t0003g0248	6	441	0.0136	-31	c.326 others(48): Show c.326-1513_326-1483delATATATATATATATATATATATATATAT ATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029346	ATATATAT others(24): Show ATATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18956.hp1 NA19060.hp1 others(1): Show HG02630.hp1 NA18956.hp1 NA19060.hp1 NA19088.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0035 a0003c0003t0003g0064 a0003c0003t0003g0069 others(1): Show a0003c0003t0003g0035 a0003c0003t0003g0064 a0003c0003t0003g0069 a0003c0003t0003g0314	4	441	0.0091	-31	c.326 others(48): Show c.326-1515_326-1485delAAATATATATATATATATATATATATAT ATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029348	ATATATAT others(24): Show ATATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp1 NA18906.hp1 NA18966.hp1 HG02922.hp1 NA18906.hp1 NA18966.hp1	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0003 a0005c0006t0001 a0003c0003t0003 a0005c0006t0001	a0003c0003t0003g0043 a0005c0006t0001g0122 a0005c0006t0001g0201 a0003c0003t0003g0043 a0005c0006t0001g0122 a0005c0006t0001g0201	3	441	0.0068	-31	c.326 others(48): Show c.326-1517_326-1487delAAAAATATATATATATATATATATATAT ATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029356	ATATATAT others(24): Show ATATATATATATATATATATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02735.hp1 HG04115.hp2 others(1): Show HG01978.hp2 HG02735.hp1 HG04115.hp2 HG04199.hp1	a0002 a0027 a0002 a0027	a0002c0002 a0002c0018 a0027c0021 a0002c0002 a0002c0018 a0027c0021	a0002c0002t0001 a0002c0018t0001 a0027c0021t0001 a0002c0002t0001 a0002c0018t0001 a0027c0021t0001	a0002c0002t0001g0349 a0002c0002t0001g0423 a0002c0018t0001g0350 others(1): Show a0002c0002t0001g0349 a0002c0002t0001g0423 a0002c0018t0001g0350 a0027c0021t0001g0413	4	441	0.0091	-31	c.326 others(48): Show c.326-1525_326-1495delAAAAAAAAAAAAATATATATATATATAT ATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029360	ATATATAT others(24): Show ATATATATATATATATTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0022 a0022	a0022c0032 a0022c0032	a0022c0032t0002 a0022c0032t0002	a0022c0032t0002g0270 a0022c0032t0002g0270	1	441	0.0023	-31	c.326 others(48): Show c.326-1529_326-1499delAAAAAAAAAAAAAAAAATATATATATAT ATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GPAT3_chr4_83531108_83610875	83562190	TATATATA others(24): Show TATATATATAATATATATATATTATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18984.hp1 HG00642.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0181 a0001c0001t0001g0048 a0001c0001t0003g0181	2	334	0.0060	-31	c.208 others(50): Show c.208+17589_208+17619delATATATATAATATATATATATTATAT ATATA	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11			chr4	TogoVar
GPAT3_chr4_83531108_83610875	83574624	ATTTTTTT others(24): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02809.hp1 HG03041.hp2 others(10): Show HG02055.hp1 HG02809.hp1 HG03041.hp2 HG03579.hp2 NA18522.hp2 NA18948.hp1 NA18965.hp2 NA18966.hp2 NA18975.hp1 NA18989.hp1 NA19058.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0004t0004	a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 others(10): Show a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0002g0323 a0001c0001t0005g0179 a0001c0001t0005g0319 a0001c0001t0008g0065 a0001c0001t0012g0245 a0001c0001t0014g0004 a0001c0001t0015g0003 a0001c0004t0004g0306	13	334	0.0389	-31	c.209 others(48): Show c.209-6915_209-6885delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPATCH8_chr17_44390281_44508406	44448521	GGAGGAAG others(24): Show GGAGGAAGAAGAAGAAGGAAGAAGAAGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0164 a0001c0008t0013g0164	1	326	0.0031	-31	c.194 others(50): Show c.194-12007_194-11977delTTCCTCTTCTTCTTCCTTCTTCTTCT TCCTC	GPATCH8	ENSG00000186566.13	transcript	ENST00000591680.6	protein_coding	3/7			chr17	TogoVar

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Search Results (Total: 2615 hits)