Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
GFOD1_chr6_13352830_13492600	13447087	TATTAGTG others(20): Show TATTAGTGTCCTAGGACTGCTGTAAGAA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG02723.hp2 others(2): Show HG02572.hp2 HG02630.hp1 HG02723.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0006 a0001c0001t0021 a0001c0002t0008 others(1): Show a0001c0001t0006 a0001c0001t0021 a0001c0002t0008 a0001c0003t0055	a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0021g0163 others(2): Show a0001c0001t0006g0160 a0001c0001t0006g0162 a0001c0001t0021g0163 a0001c0002t0008g0060 a0001c0003t0055g0161	5	230	0.0217	-27	c.253 others(46): Show c.253+39524_253+39550delTTCTTACAGCAGTCCTAGGACACTAA T		GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1						chr6	TogoVar
GGA3_chr17_75231599_75266606	75248794	ACAAAAAC others(20): Show ACAAAAACAAAAACAAAAAAAACAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG01070.hp1 others(55): Show HG00733.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01243.hp1 HG01358.hp2 HG01884.hp1 HG01943.hp1 HG01975.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02723.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03710.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18945.hp2 NA18946.hp1 NA18967.hp1 NA19002.hp2 NA19064.hp1 NA19240.hp2 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0002 a0001c0004 a0007c0010 a0001c0002 a0001c0004 a0007c0010	a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 others(3): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0010 a0001c0002t0015 a0001c0004t0001 a0007c0010t0003	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0019 others(34): Show a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0036 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0080 a0001c0002t0001g0197 a0001c0002t0001g0238 a0001c0002t0001g0240 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0253 a0001c0002t0001g0267 a0001c0002t0003g0254 a0001c0002t0003g0255 a0001c0002t0003g0256 a0001c0002t0003g0257 a0001c0002t0003g0259 a0001c0002t0003g0260 a0001c0002t0003g0261 a0001c0002t0003g0262 a0001c0002t0003g0266 a0001c0002t0010g0252 a0001c0002t0015g0263 a0001c0004t0001g0018 a0001c0004t0001g0236 a0001c0004t0001g0239 a0001c0004t0001g0241 a0001c0004t0001g0243 a0001c0004t0001g0244 a0001c0004t0001g0247 a0007c0010t0003g0264	58	364	0.1593	-27	c.41- others(42): Show c.41-2025_41-1999delGTTTTGTTTTTTTTGTTTTTGTTTTTG		GGA3	ENSG00000125447.18	transcript	ENST00000537686.6	protein_coding	1/16						chr17	TogoVar
GGT1_chr22_24598193_24633996	24604809	ACATGTCC others(20): Show ACATGTCCTTTGATAAAGTGCCTCCCCT	A A	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	426	0.0024	-27	c.-42 others(46): Show c.-429+1284_-429+1310delATGTCCTTTGATAAAGTGCCTCCCCT C		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605585	TATAATAT others(20): Show TATAATATTATATAATGTGTATTATATA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0016 a0002c0005t0003g0016	1	426	0.0024	-27	c.-42 others(46): Show c.-429+2059_-429+2085delATAATATTATATAATGTGTATTATAT A		GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15						chr22	TogoVar
GGT6_chr17_4551927_4565577	4564666	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02922.hp2 HG03486.hp2 HG02559.hp1 HG02922.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0001c0001t0001 a0001c0001t0002 a0001c0002t0004	a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0002t0004g0003 a0001c0001t0001g0001 a0001c0001t0002g0005 a0001c0002t0004g0003	3	458	0.0066	-27	c.-41 others(38): Show c.-4172_-4146delGAAAGAAAGAAAGAAAGAAAGAAAGAA		GGT6	ENSG00000167741.11	transcript	ENST00000381550.8	protein_coding					4090		chr17	TogoVar
GHR_chr5_42418439_42726878	42579136	TAGATGAT others(20): Show TAGATGATAGATAGATATAGATAGATAG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03710.hp2 HG00642.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0030 a0002c0002t0008g0170 a0002c0002t0008g0030 a0002c0002t0008g0170	2	210	0.0095	-27	c.70+ others(44): Show c.70+13194_70+13220delGATGATAGATAGATATAGATAGATAGA		GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9					INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100694312	ACCGCCGC others(20): Show ACCGCCGCCGCCGCCGCCGCCGCCGCCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp1 HG01361.hp2 HG01891.hp2 others(4): Show HG01106.hp1 HG01361.hp2 HG01891.hp2 HG03239.hp1 HG04199.hp1 NA18998.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0055 a0002c0002t0016	a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0079 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0117 a0001c0001t0004g0013 a0001c0001t0055g0083 a0002c0002t0016g0036	7	398	0.0176	-27	c.-13 others(38): Show c.-1328_-1302delCGGCGGCGGCGGCGGCGGCGGCGGCGG		GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding					63		chr7	TogoVar
GINM1_chr6_149561375_149596748	149562289	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0302 a0001c0001t0001g0302	1	380	0.0026	-27	c.-41 others(38): Show c.-4125_-4099delATATATATATATATATATATATATATA		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4085		chr6	TogoVar
GINM1_chr6_149561375_149596748	149562296	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	380	0.0026	-27	c.-41 others(38): Show c.-4118_-4092delTATATATATATATATATATATTTTTTT		GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding					4078		chr6	TogoVar
GINS1_chr20_25402673_25453563	25428969	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(147): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18962.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18980.hp1 NA18985.hp2 NA18998.hp2 NA19011.hp2 NA19043.hp2 NA19057.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 others(4): Show a0001c0001t0002 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0002c0002t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(138): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0333 a0001c0001t0011g0037 a0001c0001t0011g0038 a0001c0001t0012g0315 a0001c0001t0013g0045 a0001c0001t0014g0314 a0001c0001t0015g0148 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0071 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 a0002c0002t0002g0078 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0085 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0112 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0146 a0002c0002t0002g0147	150	360	0.4167	-27	c.447 others(44): Show c.447+3653_447+3679delTTTTTTTTTTTTTTTTTTTTTTTTTTT		GINS1	ENSG00000101003.12	transcript	ENST00000262460.5	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr20	TogoVar
GIPC1_chr19_14472762_14501127	14483748	CAATAATA others(20): Show CAATAATAATAATAATAATAATAATAAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0041 a0002c0005t0041	a0002c0005t0041g0148 a0002c0005t0041g0148	1	444	0.0023	-27	c.-30 others(42): Show c.-30-769_-30-743delATTATTATTATTATTATTATTATTATT		GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8						chr19	TogoVar
GIPR_chr19_45663221_45688722	45671539	TTCTCCTG others(20): Show TTCTCCTGTCTGTCCAACCCTGCCTATC	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0100 a0002c0002t0001g0100	1	416	0.0024	-27	c.280 others(42): Show c.280+150_280+176delTCCTGTCTGTCCAACCCTGCCTATCTC		GIPR	ENSG00000010310.9	transcript	ENST00000590918.6	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr19	TogoVar
GJA9_chr1_38869069_38886587	38884578	AAATAAAT others(20): Show AAATAAATAAATAAATAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0025 a0001c0003t0004g0025	1	444	0.0023	-27	c.-32 others(38): Show c.-3269_-3243delATTTATTTATTTATTTATTTATTTATT		GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding					2992		chr1	TogoVar
GK_chrX_30648423_30736462	30699214	TACATGTT others(20): Show TACATGTTATATATACATGTTATGTATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01884.hp1 others(3): Show HG01515.hp1 HG01517.hp2 HG01884.hp1 HG02559.hp1 HG03209.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0003 a0001c0001t0005 a0001c0004t0017 a0001c0001t0003 a0001c0001t0005 a0001c0004t0017	a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 others(3): Show a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0009 a0001c0001t0005g0105 a0001c0001t0005g0107 a0001c0004t0017g0111	6	286	0.0210	-27	c.748 others(44): Show c.748-1166_748-1140delTATATATACATGTTATGTATAACATGT		GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	9/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
GLIPR1L2_chr12_75386089_75437688	75409702	TATATATA others(20): Show TATATATATAAGATGTATATCTAATCCG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00280.hp2 others(188): Show HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp2 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18948.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19054.hp1 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19062.hp2 NA19063.hp1 NA19064.hp1 NA19070.hp2 NA19075.hp2 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19089.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0002c0005 a0003c0006	a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 others(9): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0002 a0001c0002t0007 a0001c0002t0011 a0001c0003t0003 a0001c0003t0009 a0001c0009t0010 a0002c0005t0003 a0003c0006t0003 a0003c0006t0008	a0001c0001t0002g0097 a0001c0001t0002g0182 a0001c0001t0002g0217 others(127): Show a0001c0001t0002g0097 a0001c0001t0002g0182 a0001c0001t0002g0217 a0001c0001t0005g0094 a0001c0001t0005g0095 a0001c0001t0006g0153 a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0011 a0001c0002t0002g0013 a0001c0002t0002g0014 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0031 a0001c0002t0002g0032 a0001c0002t0002g0033 a0001c0002t0002g0101 a0001c0002t0002g0102 a0001c0002t0002g0103 a0001c0002t0002g0104 a0001c0002t0002g0106 a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0125 a0001c0002t0002g0126 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0139 a0001c0002t0002g0140 a0001c0002t0002g0141 a0001c0002t0002g0142 a0001c0002t0002g0143 a0001c0002t0002g0148 a0001c0002t0002g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0007g0123 a0001c0002t0011g0105 a0001c0003t0003g0008 a0001c0003t0003g0009 a0001c0003t0003g0010 a0001c0003t0003g0018 a0001c0003t0003g0019 a0001c0003t0003g0020 a0001c0003t0003g0021 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0024 a0001c0003t0003g0025 a0001c0003t0003g0026 a0001c0003t0003g0044 a0001c0003t0003g0048 a0001c0003t0003g0049 a0001c0003t0003g0050 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0003g0056 a0001c0003t0003g0057 a0001c0003t0003g0058 a0001c0003t0003g0060 a0001c0003t0003g0062 a0001c0003t0003g0063 a0001c0003t0003g0064 a0001c0003t0003g0065 a0001c0003t0003g0066 a0001c0003t0003g0067 a0001c0003t0003g0069 a0001c0003t0003g0070 a0001c0003t0003g0071 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0003g0076 a0001c0003t0003g0077 a0001c0003t0003g0078 a0001c0003t0003g0079 a0001c0003t0003g0080 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0003t0003g0083 a0001c0003t0003g0084 a0001c0003t0003g0085 a0001c0003t0003g0086 a0001c0003t0003g0087 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0090 a0001c0003t0003g0091 a0001c0003t0003g0092 a0001c0003t0003g0093 a0001c0003t0003g0230 a0001c0003t0009g0045 a0001c0009t0010g0124 a0002c0005t0003g0046 a0002c0005t0003g0047 a0002c0005t0003g0061 a0003c0006t0003g0068 a0003c0006t0008g0059	191	360	0.5306	-27	c.235 others(42): Show c.235-679_235-653delCGATATATATAAGATGTATATCTAATC		GLIPR1L2	ENSG00000180481.11	transcript	ENST00000550916.6	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLO1_chr6_38670925_38708145	38701551	CTTTACAC others(20): Show CTTTACACTGAGTGACTCAATTTACATT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	410	0.0024	-27	c.84+ others(42): Show c.84+1393_84+1419delAATGTAAATTGAGTCACTCAGTGTAAA		GLO1	ENSG00000124767.7	transcript	ENST00000373365.5	protein_coding	1/5						chr6	TogoVar
GLP2R_chr17_9820924_9897099	9844668	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp1 HG02886.hp2 others(4): Show HG01884.hp2 HG02280.hp1 HG02886.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 NA19240.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0001c0001t0007 a0008c0010t0001 a0001c0001t0001 a0001c0001t0007 a0008c0010t0001	a0001c0001t0001g0136 a0001c0001t0001g0364 a0001c0001t0001g0366 others(4): Show a0001c0001t0001g0136 a0001c0001t0001g0364 a0001c0001t0001g0366 a0001c0001t0001g0368 a0001c0001t0007g0298 a0001c0001t0007g0303 a0008c0010t0001g0354	7	380	0.0184	-27	c.504 others(44): Show c.504+2064_504+2090delTTTTTTTTTTTTTTTTTTTTTTTTTTT		GLP2R	ENSG00000065325.13	transcript	ENST00000262441.10	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
GLS_chr2_190875821_190970552	190880872	CGCAGCAG others(20): Show CGCAGCAGCAGCAGCAGCAGCAGCAGCA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0037 a0001c0012t0037	a0001c0012t0037g0245 a0001c0012t0037g0245	1	380	0.0026	-27	c.-19 others(36): Show c.-191_-165delGCAGCAGCAGCAGCAGCAGCAGCAGCA		GLS	ENSG00000115419.14	transcript	ENST00000320717.8	protein_coding	1/18				165	INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128874120	CTCTCTCT others(20): Show CTCTCTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0092 a0001c0001t0005g0092	1	320	0.0031	-27	c.69- others(42): Show c.69-1792_69-1766delCTCTCTTTCTTTCTTTCTTTCTTTCTT		GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104016752	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18940.hp1 NA18956.hp2 others(2): Show HG02015.hp1 NA18940.hp1 NA18956.hp2 NA18967.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0002 a0001c0001t0002 a0001c0003t0002	a0001c0001t0002g0336 a0001c0001t0002g0349 a0001c0001t0002g0356 others(2): Show a0001c0001t0002g0336 a0001c0001t0002g0349 a0001c0001t0002g0356 a0001c0001t0002g0371 a0001c0003t0002g0385	5	416	0.0120	-27	c.20- others(42): Show c.20-1674_20-1648delCCTTCTTTCTTTCTTTCTTTCTTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	3/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021929	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01257.hp1 HG01261.hp1 others(2): Show HG00099.hp2 HG01257.hp1 HG01261.hp1 HG02148.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 others(2): Show a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0062 a0001c0001t0001g0150	5	416	0.0120	-27	c.-16 others(44): Show c.-163-465_-163-439delCTCTTCTTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021938	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAGGAAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01516.hp1 HG03239.hp1 HG01081.hp1 HG01516.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0002c0004t0001 a0001c0001t0001 a0001c0001t0003 a0002c0004t0001	a0001c0001t0001g0038 a0001c0001t0003g0171 a0002c0004t0001g0266 a0001c0001t0001g0038 a0001c0001t0003g0171 a0002c0004t0001g0266	3	416	0.0072	-27	c.-16 others(44): Show c.-163-474_-163-448delCTCTTCTTCCTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021950	AGAAGAGG others(20): Show AGAAGAGGAAGAAGAGGAAGAGGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0159 a0001c0001t0003g0159	1	416	0.0024	-27	c.-16 others(44): Show c.-163-486_-163-460delCTCTTCCTCTTCCTCTTCTTCCTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021971	GGAAGAGG others(20): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG03579.hp1 NA20905.hp2 HG03579.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0133 a0001c0001t0001g0091 a0001c0001t0001g0133	2	416	0.0048	-27	c.-16 others(44): Show c.-163-507_-163-481delTTCTTCTTCTTCTTCCTCTTCCTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104021996	GAAGAAGA others(20): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04228.hp2 NA18952.hp2 others(3): Show HG02155.hp1 HG04228.hp2 NA18952.hp2 NA18968.hp2 NA19012.hp2 NA19067.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0009 a0002c0002t0001g0228 a0002c0002t0001g0239 others(3): Show a0002c0002t0001g0009 a0002c0002t0001g0228 a0002c0002t0001g0239 a0002c0002t0001g0244 a0002c0002t0001g0246 a0002c0002t0001g0264	6	416	0.0144	-27	c.-16 others(44): Show c.-163-532_-163-506delTTTCTTCTTCTTCTTCTTCTTCTTCTT		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GLT8D2_chr12_103983987_104055187	104022031	AGAAGAAG others(20): Show AGAAGAAGAAGAAGAAGAAGAAGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG03195.hp2 others(1): Show HG02572.hp2 HG02647.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 others(1): Show a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116	4	416	0.0096	-27	c.-16 others(44): Show c.-163-567_-163-541delCCCTTCTTCTTCTTCTTCTTCTTCTTC		GLT8D2	ENSG00000120820.13	transcript	ENST00000360814.9	protein_coding	1/10						chr12	TogoVar
GMPR2_chr14_24227929_24244242	24237172	CCACTGGC others(20): Show CCACTGGCTACCCCCCTTCAGTGGCAAA	C C	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	420	0.0024	-27	c.547 others(40): Show c.547+24_548-43delTGGCTACCCCCCTTCAGTGGCAAACAC		GMPR2	ENSG00000100938.19	transcript	ENST00000399440.7	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr14	TogoVar
GNA14_chr9_77418079_77653322	77479604	TACCTTGG others(20): Show TACCTTGGGCAGTATGGCCATTTTCACG	T T	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	240	0.0042	-27	c.310 others(46): Show c.310-45109_310-45083delCGTGAAAATGGCCATACTGCCCAAGG T		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	2/6						chr9	TogoVar
GNA14_chr9_77418079_77653322	77641100	GGAAGGAA others(20): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0124 a0001c0002t0001g0124	1	240	0.0042	-27	c.124 others(44): Show c.124+6543_124+6569delTTCCTTCCTTCCTTCCTTCCTTCCTTC		GNA14	ENSG00000156049.7	transcript	ENST00000341700.7	protein_coding	1/6						chr9	TogoVar
GNA15_chr19_3131033_3168749	3135838	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01081.hp1 HG01081.hp2 others(10): Show HG00639.hp2 HG01081.hp1 HG01081.hp2 HG01261.hp2 NA18747.hp1 NA18940.hp1 NA18946.hp2 NA18950.hp2 NA18960.hp1 NA18971.hp2 NA18990.hp1 NA19012.hp2 NA19079.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0002 a0001c0003 a0003c0006 others(1): Show a0001c0002 a0001c0003 a0003c0006 a0007c0013	a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 others(1): Show a0001c0002t0001 a0001c0003t0001 a0003c0006t0001 a0007c0013t0001	a0001c0002t0001g0007 a0001c0002t0001g0199 a0001c0002t0001g0200 others(9): Show a0001c0002t0001g0007 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0205 a0001c0002t0001g0251 a0001c0003t0001g0112 a0001c0003t0001g0113 a0003c0006t0001g0009 a0003c0006t0001g0201 a0007c0013t0001g0186	13	450	0.0289	-27	c.-61 others(36): Show c.-612_-586delAAAAAATATATATATATATATATATAT		GNA15	ENSG00000060558.4	transcript	ENST00000262958.4	protein_coding					194		chr19	TogoVar
GNAS_chr20_58834748_58916192	58854492	AGATCCCG others(20): Show AGATCCCGACTCCGGGACAGCACCAGCC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0127 a0001c0001t0004g0127	1	302	0.0033	-27	c.42 others(46): Show c.42+13612_*42+13638delCGACTCCGGGACAGCACCAGCCGATC C		GNAS	ENSG00000087460.29	transcript	ENST00000371075.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr20	TogoVar
GNAS_chr20_58847716_58916192	58854492	AGATCCCG others(20): Show AGATCCCGACTCCGGGACAGCACCAGCC	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02055.hp1 HG02055.hp1	a0007 a0007	a0007c0026 a0007c0026	a0007c0026t0006 a0007c0026t0006	a0007c0026t0006g0232 a0007c0026t0006g0232	1	302	0.0033	-27	c.123 others(36): Show c.1233_1259delCGACTCCGGGACAGCACCAGCCGATCC	p.Asp others(13): Show p.Asp412_Pro420del	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding	1/13	1783/4027	1233/3114	411/1037		INFO_REALIGN_3_PRIME	chr20	TogoVar
GNB1_chr1_1780286_1896087	1809707	AAGCTGTC others(20): Show AAGCTGTCCACTGATCCTCCAGAAGGTG	A A	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	336	0.0030	-27	c.204 others(44): Show c.204-3196_204-3170delCACCTTCTGGAGGATCAGTGGACAGCT		GNB1	ENSG00000078369.19	transcript	ENST00000378609.9	protein_coding	5/11						chr1	TogoVar
GNG11_chr7_93916735_93933610	93930209	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTCCTTTCTTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00738.hp2 others(30): Show HG00544.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01891.hp2 HG02027.hp1 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02258.hp1 HG02622.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG03654.hp1 NA18522.hp2 NA18612.hp2 NA18950.hp2 NA19010.hp1 NA19030.hp2 NA19063.hp2 NA19064.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0022 a0002c0002t0004	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 others(11): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0001 a0001c0001t0003g0004 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0004g0010 a0001c0001t0004g0015 a0001c0001t0004g0017 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0039 a0001c0001t0022g0036 a0002c0002t0004g0021	33	438	0.0753	-27	c.39 others(38): Show c.3994_*4020delCTTCCTTCCTTCCTTCCTTTCTTTCTT		GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding					1600		chr7	TogoVar
GNG11_chr7_93916735_93933610	93930213	CCTTCCTT others(20): Show CCTTCCTTCCTTCCTTTCTTTCTTCTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02559.hp2 HG02630.hp1 others(2): Show HG02280.hp1 HG02559.hp2 HG02630.hp1 HG02723.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0015 a0001c0001t0023 a0001c0001t0007 a0001c0001t0015 a0001c0001t0023	a0001c0001t0007g0008 a0001c0001t0015g0023 a0001c0001t0023g0038 a0001c0001t0007g0008 a0001c0001t0015g0023 a0001c0001t0023g0038	5	438	0.0114	-27	c.39 others(38): Show c.3998_*4024delCTTCCTTCCTTCCTTTCTTTCTTCTTT		GNG11	ENSG00000127920.6	transcript	ENST00000248564.6	protein_coding					1604		chr7	TogoVar
GNG7_chr19_2506219_2707694	2657346	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0080 a0001c0001t0008g0080	1	206	0.0049	-27	c.-13 others(48): Show c.-134-11093_-134-11067delATATATATATATTTTTTTTTTTTT TTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNG7_chr19_2506219_2707694	2657348	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19082.hp2 NA19012.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0073 a0001c0001t0004g0071 a0001c0001t0001g0073 a0001c0001t0004g0071	2	206	0.0097	-27	c.-13 others(48): Show c.-134-11095_-134-11069delATATATATATATATTTTTTTTTTT TTT		GNG7	ENSG00000176533.13	transcript	ENST00000382159.8	protein_coding	1/4						chr19	TogoVar
GNRH1_chr8_25414258_25429261	25420632	GTGGCTTG others(20): Show GTGGCTTGCACCTTTAATCCCAGCACTT	G G	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	398	0.0025	-27	c.237 others(42): Show c.237+914_237+940delAAGTGCTGGGATTAAAGGTGCAAGCCA		GNRH1	ENSG00000147437.10	transcript	ENST00000421054.7	protein_coding	3/3						chr8	TogoVar
GOLGA6B_chr15_72649697_72674599	72674418	TGTATAGA others(20): Show TGTATAGAGCATAATATACCACAGACAG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	333	0.0030	-27	c.80 others(38): Show c.8077_*8103delGTATAGAGCATAATATACCACAGACAG		GOLGA6B	ENSG00000215186.7	transcript	ENST00000421285.4	protein_coding					4820		chr15	TogoVar
GOLGA8A_chr15_34374068_34442808	34437422	GGTCCGCC others(20): Show GGTCCGCCGCCGTCCTCGCCGCGCCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0004 a0001c0001t0043g0004	1	245	0.0041	-27	c.-12 others(38): Show c.-1263_-1237delGGCGGCGCGGCGAGGACGGCGGCGGAC		GOLGA8A	ENSG00000175265.19	transcript	ENST00000359187.5	protein_coding	1/25				47732		chr15	TogoVar
GOLGB1_chr3_121658201_121754741	121752970	GGGGAAAG others(20): Show GGGGAAAGGGGAAAGAAGAGGGATGGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0153 a0003c0004t0001g0153	1	370	0.0027	-27	c.-33 others(38): Show c.-3368_-3342delTACCATCCCTCTTCTTTCCCCTTTCCC		GOLGB1	ENSG00000173230.17	transcript	ENST00000614479.5	protein_coding					3230		chr3	TogoVar
GON4L_chr1_155744659_155862214	155809714	CTTATATA others(20): Show CTTATATATACTTATAAATTATATACTT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0142 a0002c0002t0001g0142	1	218	0.0046	-27	c.145 others(46): Show c.1452+3893_1452+3919delAAGTATATAATTTATAAGTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GON4L_chr1_155744659_155862214	155809739	CTTATATA others(20): Show CTTATATATACTTATAAATTATATACTT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01243.hp1 HG02486.hp1 others(6): Show HG00735.hp2 HG01243.hp1 HG02486.hp1 HG02970.hp2 HG03453.hp2 HG03831.hp1 HG03831.hp2 HG04228.hp2 NA18612.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0022 others(1): Show a0001c0001 a0001c0003 a0001c0022 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0022t0001 a0002c0002t0001	a0001c0001t0001g0079 a0001c0001t0002g0086 a0001c0003t0001g0024 others(6): Show a0001c0001t0001g0079 a0001c0001t0002g0086 a0001c0003t0001g0024 a0001c0022t0001g0107 a0002c0002t0001g0110 a0002c0002t0001g0135 a0002c0002t0001g0146 a0002c0002t0001g0154 a0002c0002t0001g0170	9	218	0.0413	-27	c.145 others(46): Show c.1452+3868_1452+3894delAAGTATATAATTTATAAGTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GON4L_chr1_155744659_155862214	155809764	CTTATATA others(20): Show CTTATATATAATTATAAATTATATACTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00621.hp1 others(39): Show HG00408.hp2 HG00609.hp2 HG00621.hp1 HG01069.hp1 HG01175.hp2 HG01261.hp2 HG01516.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02129.hp1 HG02165.hp2 HG02293.hp1 HG02559.hp1 HG03490.hp2 HG03579.hp1 HG03688.hp1 HG03942.hp2 HG04199.hp2 NA18939.hp2 NA18943.hp1 NA18959.hp1 NA18962.hp1 NA18986.hp1 NA18986.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp1 NA19012.hp2 NA19062.hp1 NA19068.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(4): Show a0001 a0002 a0005 a0009 a0010 a0011 a0014	a0001c0001 a0002c0002 a0002c0005 others(6): Show a0001c0001 a0002c0002 a0002c0005 a0002c0010 a0005c0024 a0009c0015 a0010c0020 a0011c0016 a0014c0014	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0005c0024t0001 a0009c0015t0001 a0010c0020t0001 a0011c0016t0001 a0014c0014t0001	a0001c0001t0001g0006 a0001c0001t0002g0085 a0001c0001t0002g0160 others(39): Show a0001c0001t0001g0006 a0001c0001t0002g0085 a0001c0001t0002g0160 a0001c0001t0002g0161 a0002c0002t0001g0028 a0002c0002t0001g0058 a0002c0002t0001g0081 a0002c0002t0001g0099 a0002c0002t0001g0104 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0140 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0151 a0002c0002t0001g0158 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0002t0001g0173 a0002c0005t0001g0115 a0002c0005t0001g0117 a0002c0005t0001g0118 a0002c0005t0001g0119 a0002c0010t0001g0132 a0005c0024t0001g0155 a0009c0015t0001g0169 a0010c0020t0001g0133 a0011c0016t0001g0148 a0014c0014t0001g0178	42	218	0.1927	-27	c.145 others(46): Show c.1452+3843_1452+3869delAAGTATATAATTTATAATTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GON4L_chr1_155744659_155862214	155809814	CTTATATA others(20): Show CTTATATATAATTATAAATTATATACTT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01074.hp2 others(3): Show HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG02083.hp1 HG03834.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0012 a0002c0002 a0007c0012	a0002c0002t0001 a0007c0012t0001 a0002c0002t0001 a0007c0012t0001	a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0152 others(3): Show a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0213 a0007c0012t0001g0113	6	218	0.0275	-27	c.145 others(46): Show c.1452+3793_1452+3819delAAGTATATAATTTATAATTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GON4L_chr1_155744659_155862214	155809839	CTTATATA others(20): Show CTTATATATAATTATAAATTATATACTT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG01069.hp1 others(22): Show HG00408.hp2 HG00609.hp2 HG01069.hp1 HG01175.hp2 HG01952.hp2 HG01981.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02165.hp2 HG02293.hp1 HG03453.hp2 HG03688.hp1 HG03942.hp2 NA18943.hp1 NA18959.hp1 NA18962.hp1 NA18986.hp1 NA19012.hp2 NA19062.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0009 a0010	a0001c0022 a0002c0002 a0002c0005 others(4): Show a0001c0022 a0002c0002 a0002c0005 a0002c0010 a0005c0024 a0009c0015 a0010c0020	a0001c0022t0001 a0002c0002t0001 a0002c0005t0001 others(4): Show a0001c0022t0001 a0002c0002t0001 a0002c0005t0001 a0002c0010t0001 a0005c0024t0001 a0009c0015t0001 a0010c0020t0001	a0001c0022t0001g0107 a0002c0002t0001g0028 a0002c0002t0001g0058 others(22): Show a0001c0022t0001g0107 a0002c0002t0001g0028 a0002c0002t0001g0058 a0002c0002t0001g0081 a0002c0002t0001g0106 a0002c0002t0001g0108 a0002c0002t0001g0112 a0002c0002t0001g0114 a0002c0002t0001g0124 a0002c0002t0001g0127 a0002c0002t0001g0129 a0002c0002t0001g0134 a0002c0002t0001g0143 a0002c0002t0001g0147 a0002c0002t0001g0151 a0002c0002t0001g0158 a0002c0002t0001g0168 a0002c0002t0001g0171 a0002c0005t0001g0115 a0002c0005t0001g0117 a0002c0005t0001g0118 a0002c0010t0001g0132 a0005c0024t0001g0155 a0009c0015t0001g0169 a0010c0020t0001g0133	25	218	0.1147	-27	c.145 others(46): Show c.1452+3768_1452+3794delAAGTATATAATTTATAATTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GON4L_chr1_155744659_155862214	155809864	CTTATATA others(20): Show CTTATATATAATTATAAATTATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02523.hp1 NA18984.hp1 others(1): Show HG01099.hp1 HG02523.hp1 NA18984.hp1 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0002 a0002c0002t0001 a0002c0005t0001 a0001c0001t0002 a0002c0002t0001 a0002c0005t0001	a0001c0001t0002g0060 a0001c0001t0002g0061 a0002c0002t0001g0095 others(1): Show a0001c0001t0002g0060 a0001c0001t0002g0061 a0002c0002t0001g0095 a0002c0005t0001g0150	4	218	0.0184	-27	c.145 others(46): Show c.1452+3743_1452+3769delATGTATATAATTTATAATTATATATA A		GON4L	ENSG00000116580.20	transcript	ENST00000368331.6	protein_coding	10/31						chr1	TogoVar
GP6_chr19_55008705_55043264	55029347	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG02080.hp2 NA18967.hp2 HG01358.hp1 HG02080.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0280 a0002c0002t0001g0339 a0002c0002t0001g0387 a0002c0002t0001g0280 a0002c0002t0001g0339 a0002c0002t0001g0387	3	441	0.0068	-27	c.326 others(44): Show c.326-1512_326-1486delTATATATATATATATATATATATATAT		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029348	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02273.hp2 NA18994.hp2 HG01934.hp2 HG02273.hp2 NA18994.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0005c0006 a0002c0002 a0005c0006	a0002c0002t0001 a0005c0006t0001 a0002c0002t0001 a0005c0006t0001	a0002c0002t0001g0282 a0002c0002t0001g0341 a0005c0006t0001g0183 a0002c0002t0001g0282 a0002c0002t0001g0341 a0005c0006t0001g0183	3	441	0.0068	-27	c.326 others(44): Show c.326-1513_326-1487delATATATATATATATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar
GP6_chr19_55008705_55043264	55029354	ATATATAT others(20): Show ATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0342 a0002c0002t0006g0342	1	441	0.0023	-27	c.326 others(44): Show c.326-1519_326-1493delAAAAAAATATATATATATATATATATA		GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7						chr19	TogoVar

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