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
GP6_chr19_55008705_55043264	55029337	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0310 a0006c0007t0002g0310	1	441	0.0023	-35	c.326 others(52): Show c.326-1510_326-1476delTATATATATATATATATATATATATATA TATATAT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029339	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03130.hp1 HG03453.hp1 HG02965.hp2 HG03130.hp1 HG03453.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0303 a0006c0007t0002g0311 a0006c0007t0002g0371 a0006c0007t0002g0303 a0006c0007t0002g0311 a0006c0007t0002g0371	3	441	0.0068	-35	c.326 others(52): Show c.326-1512_326-1478delTATATATATATATATATATATATATATA TATATAT	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GP6_chr19_55008705_55043264	55029340	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0002 a0006c0007t0002	a0006c0007t0002g0372 a0006c0007t0002g0372	1	441	0.0023	-35	c.326 others(52): Show c.326-1513_326-1479delATATATATATATATATATATATATATAT ATATATA	GP6	ENSG00000088053.11	transcript	ENST00000310373.7	protein_coding	3/7			chr19	TogoVar
GPAT3_chr4_83531108_83610875	83603739	AAGATTGT others(28): Show AAGATTGTGCCATTGCACTCCAGCCTGGACAACAAG	A A	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	334	0.0030	-35	c.120 others(52): Show c.1206-926_1206-892delATTGTGCCATTGCACTCCAGCCTGGACA ACAAGAG	GPAT3	ENSG00000138678.11	transcript	ENST00000264409.5	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
GPC1_chr2_240430663_240473076	240440534	ACTCCTCC others(28): Show ACTCCTCCTGGCCTCCCTGCCTCCGGTCCTGCCCAG	A A	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA21309.hp2 HG02976.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0002 a0002c0007t0005 a0001c0002t0002 a0002c0007t0005	a0001c0002t0002g0274 a0002c0007t0005g0229 a0001c0002t0002g0274 a0002c0007t0005g0229	2	398	0.0050	-35	c.166 others(52): Show c.166+4688_166+4722delCTGCCCAGCTCCTCCTGGCCTCCCTGCC TCCGGTC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC1_chr2_240430663_240473076	240453340	CCCCGCTC others(28): Show CCCCGCTCCCACCGCCCGCCCCGCTCCCTCCGCCCG	C C	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0062 a0002c0001t0001g0062	1	398	0.0025	-35	c.167 others(52): Show c.167-5686_167-5652delGCTCCCACCGCCCGCCCCGCTCCCTCCG CCCGCCC	GPC1	ENSG00000063660.9	transcript	ENST00000264039.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
GPC4_chrX_133295103_133420489	133344191	GTTTTTTT others(28): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG01496.hp1 others(13): Show HG01109.hp1 HG01243.hp1 HG01496.hp1 HG02027.hp1 HG02109.hp2 HG02258.hp1 HG02622.hp1 HG02895.hp1 HG02965.hp1 HG03098.hp1 HG03225.hp1 HG03831.hp2 HG04184.hp1 HG04204.hp1 NA20300.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0125 a0002c0002t0002g0126 others(12): Show a0002c0002t0002g0002 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0144 a0002c0002t0002g0154 a0002c0002t0002g0155 a0002c0002t0002g0156 a0002c0002t0002g0174 a0002c0002t0002g0182 a0002c0002t0002g0183 a0002c0002t0002g0185 a0002c0002t0002g0205 a0002c0002t0002g0209	16	221	0.0724	-35	c.161 others(52): Show c.161-4885_161-4851delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	GPC4	ENSG00000076716.9	transcript	ENST00000370828.4	protein_coding	1/8			chrX	TogoVar
GPC5_chr13_91393621_92872237	92527156	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAGAAAGAAAGAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0013 a0001c0001t0001g0023	2	42	0.0476	-35	c.156 others(58): Show c.1562-339124_1562-339090delAAGAAAGAAAGAAAGAGAAAGA AAGAAGAAAGAAA	GPC5	ENSG00000179399.16	transcript	ENST00000377067.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPC6_chr13_93221807_94413020	93640759	CCCTCCTC others(28): Show CCCTCCTCCCCACTTTCCTTCCCTCCCTCCCTTCCT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0035 a0001c0001t0016g0035	1	76	0.0132	-35	c.319 others(54): Show c.319+95342_319+95376delCCTCCCCACTTTCCTTCCCTCCCTCC CTTCCTCCT	GPC6	ENSG00000183098.12	transcript	ENST00000377047.9	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
GPIHBP1_chr8_143208218_143222170	143217637	CTGAGTTC others(28): Show CTGAGTTCGCCAAATGCTTCCTTCAAACTGATGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	106	0.0094	-35	c.21 others(46): Show c.2120_*2154delTGAGTTCGCCAAATGCTTCCTTCAAACTGATGCC T	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		468		chr8	TogoVar
GPR61_chr1_109534872_109552260	109550184	GACTTATT others(28): Show GACTTATTTTGTACATTCTAAGTGCCCCTGTTAGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	386	0.0026	-35	c.58 others(46): Show c.5807_*5841delACTTATTTTGTACATTCTAAGTGCCCCTGTTAGT C	GPR61	ENSG00000156097.13	transcript	ENST00000527748.5	protein_coding		2925		chr1	TogoVar
GPR61_chr1_109534872_109552260	109550420	ACCTAGTA others(28): Show ACCTAGTAGGTGCTCCTTAAATATTTACTGTTAACC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	386	0.0026	-35	c.60 others(46): Show c.6043_*6077delCCTAGTAGGTGCTCCTTAAATATTTACTGTTAAC C	GPR61	ENSG00000156097.13	transcript	ENST00000527748.5	protein_coding		3161		chr1	TogoVar
GPSM2_chr1_108871985_108939545	108873414	ACGTATAT others(28): Show ACGTATATATATATACATATATATATATACGTATTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0034 a0004c0004t0034	a0004c0004t0034g0032 a0004c0004t0034g0032	1	260	0.0039	-35	c.-40 others(46): Show c.-4062_-4028delCGTATATATATATACATATATATATATACGTATT T	GPSM2	ENSG00000121957.15	transcript	ENST00000264126.9	protein_coding		3570		chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46628507	GGGTGGAC others(28): Show GGGTGGACTGAGTGTGTGCGTGGTGTCTGAGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(100): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00423.hp2 HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp1 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02486.hp2 HG02615.hp2 HG02698.hp2 HG02818.hp2 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03486.hp2 HG03540.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp2 NA18955.hp2 NA18959.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18970.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19057.hp1 NA19059.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19081.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0006 others(1): Show a0001c0001 a0001c0005 a0001c0006 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0025 a0001c0001t0026 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0043 a0001c0001t0044 a0001c0001t0048 a0001c0001t0049 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0064 a0001c0005t0002 a0001c0006t0042 a0001c0009t0062	a0001c0001t0001g0115 a0001c0001t0001g0196 a0001c0001t0001g0197 others(98): Show a0001c0001t0001g0115 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0002g0007 a0001c0001t0002g0081 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0203 a0001c0001t0002g0209 a0001c0001t0002g0249 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0272 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0307 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0003g0283 a0001c0001t0004g0295 a0001c0001t0005g0001 a0001c0001t0005g0039 a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0188 a0001c0001t0005g0258 a0001c0001t0006g0076 a0001c0001t0006g0102 a0001c0001t0006g0170 a0001c0001t0006g0174 a0001c0001t0006g0192 a0001c0001t0006g0193 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0006g0198 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0202 a0001c0001t0006g0302 a0001c0001t0011g0057 a0001c0001t0013g0055 a0001c0001t0017g0045 a0001c0001t0025g0256 a0001c0001t0025g0265 a0001c0001t0026g0082 a0001c0001t0026g0292 a0001c0001t0032g0046 a0001c0001t0034g0201 a0001c0001t0035g0263 a0001c0001t0036g0173 a0001c0001t0043g0311 a0001c0001t0044g0316 a0001c0001t0048g0191 a0001c0001t0049g0042 a0001c0001t0056g0313 a0001c0001t0057g0304 a0001c0001t0058g0277 a0001c0001t0059g0284 a0001c0001t0060g0280 a0001c0001t0061g0289 a0001c0001t0064g0306 a0001c0005t0002g0294 a0001c0006t0042g0318 a0001c0009t0062g0303	103	328	0.3140	-35	c.162 others(52): Show c.162+1616_162+1650delAGGTGGACTGAGTGTGTGCGTGGTGTCT GAGGGGC	GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
GREB1_chr2_11529045_11647788	11598041	TGGGTGTT others(28): Show TGGGTGTTGACACTGTTCTTTGCTATAGAGTGAATA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02647.hp1 HG02723.hp1 others(9): Show HG00639.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03471.hp2 NA19240.hp1 NA20300.hp2	a0008 a0011 a0016 others(2): Show a0008 a0011 a0016 a0033 a0034	a0008c0006 a0011c0008 a0016c0021 others(2): Show a0008c0006 a0011c0008 a0016c0021 a0033c0047 a0034c0046	a0008c0006t0012 a0008c0006t0017 a0008c0006t0019 others(6): Show a0008c0006t0012 a0008c0006t0017 a0008c0006t0019 a0008c0006t0024 a0011c0008t0012 a0016c0021t0001 a0016c0021t0017 a0033c0047t0031 a0034c0046t0012	a0008c0006t0012g0112 a0008c0006t0017g0015 a0008c0006t0017g0259 others(9): Show a0008c0006t0012g0112 a0008c0006t0017g0015 a0008c0006t0017g0259 a0008c0006t0019g0076 a0008c0006t0024g0143 a0011c0008t0012g0093 a0011c0008t0012g0094 a0016c0021t0001g0137 a0016c0021t0017g0092 a0016c0021t0017g0099 a0033c0047t0031g0107 a0034c0046t0012g0097	12	308	0.0390	-35	c.215 others(51): Show c.2152+67_2152+101delTGTTGACACTGTTCTTTGCTATAGAGTGA ATAGGG	GREB1	ENSG00000196208.14	transcript	ENST00000381486.7	protein_coding	14/32		INFO_REALIGN_3_PRIME	chr2	TogoVar
GRIA3_chrX_123179278_123495915	123479888	GTTGCTGT others(28): Show GTTGCTGTAGTGTTAACTTTTTATAAGGTAATGCTC	G G	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	207	0.0048	-35	c.232 others(52): Show c.2325-174_2325-140delTTGCTGTAGTGTTAACTTTTTATAAGGT AATGCTC	GRIA3	ENSG00000125675.20	transcript	ENST00000620443.2	protein_coding	13/15			chrX	TogoVar
GRID1_chr10_85594552_86371795	86080404	AAGGGAAG others(28): Show AAGGGAAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02622.hp2 HG03130.hp2 others(1): Show HG01891.hp1 HG02622.hp2 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0035 a0001c0004t0008 a0001c0004t0015 others(1): Show a0001c0002t0035 a0001c0004t0008 a0001c0004t0015 a0001c0004t0049	a0001c0002t0035g0095 a0001c0004t0008g0072 a0001c0004t0015g0094 others(1): Show a0001c0002t0035g0095 a0001c0004t0008g0072 a0001c0004t0015g0094 a0001c0004t0049g0082	4	96	0.0417	-35	c.726 others(54): Show c.726+58380_726+58414delCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTTCCCT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GRID1_chr10_85594552_86371795	86080434	GAGGGGAG others(28): Show GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02896.hp1 HG03017.hp1 others(3): Show HG02572.hp1 HG02896.hp1 HG03017.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0011 a0001c0001 a0001c0004 a0001c0011	a0001c0001t0002 a0001c0001t0016 a0001c0001t0037 others(2): Show a0001c0001t0002 a0001c0001t0016 a0001c0001t0037 a0001c0004t0003 a0001c0011t0006	a0001c0001t0002g0047 a0001c0001t0016g0042 a0001c0001t0016g0043 others(3): Show a0001c0001t0002g0047 a0001c0001t0016g0042 a0001c0001t0016g0043 a0001c0001t0037g0033 a0001c0004t0003g0076 a0001c0011t0006g0068	6	96	0.0625	-35	c.726 others(54): Show c.726+58350_726+58384delTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCT	GRID1	ENSG00000182771.19	transcript	ENST00000327946.12	protein_coding	4/15			chr10	TogoVar
GRID2_chr4_92298966_93779566	92740672	CATAGATA others(28): Show CATAGATAGATAGATAGATGATAGATAGATAGATAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	34	0.0294	-35	c.244 others(56): Show c.244+150405_244+150439delGATAGATAGATAGATAGATAGATA GATAGATAGAT	GRID2	ENSG00000152208.13	transcript	ENST00000282020.9	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
GRIK1_chr21_29531933_29944996	29734391	CTTTTCTT others(28): Show CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02970.hp1 HG03239.hp1 others(4): Show HG01515.hp2 HG02970.hp1 HG03239.hp1 HG03471.hp2 NA18941.hp2 NA18982.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0012 a0001c0001 a0001c0002 a0001c0012	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0012t0001	a0001c0001t0001g0128 a0001c0002t0001g0023 a0001c0002t0001g0101 others(4): Show a0001c0001t0001g0128 a0001c0002t0001g0023 a0001c0002t0001g0101 a0001c0002t0001g0116 a0001c0002t0001g0158 a0001c0002t0003g0160 a0001c0012t0001g0045	7	162	0.0432	-35	c.119 others(54): Show c.119-40363_119-40329delAAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAA	GRIK1	ENSG00000171189.18	transcript	ENST00000327783.9	protein_coding	1/17			chr21	TogoVar
GRIN2B_chr12_13532337_13986602	13678961	GGAGGAAG others(28): Show GGAGGAAGGAAAGAAGGAAAAAGGAAGAAAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02965.hp2 HG02896.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0068 a0001c0007t0142 a0001c0002t0068 a0001c0007t0142	a0001c0002t0068g0028 a0001c0007t0142g0125 a0001c0002t0068g0028 a0001c0007t0142g0125	2	194	0.0103	-35	c.101 others(54): Show c.1011-3137_1011-3103delTTTCCTTTTCTTCCTTTTTCCTTCTT TCCTTCCTC	GRIN2B	ENSG00000273079.7	transcript	ENST00000609686.4	protein_coding	4/13			chr12	TogoVar
GRIN2D_chr19_48388668_48449931	48392118	GCTCAGAC others(28): Show GCTCAGACCCAGGAGTCCAGGCCCCCAGCCTCCTCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0250 a0001c0001t0002g0251	2	366	0.0055	-35	c.-20 others(46): Show c.-2055_-2021delCTCAGACCCAGGAGTCCAGGCCCCCAGCCTCCTC C	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding		1549		chr19	TogoVar
GRIP1_chr12_66342431_66684076	66531249	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0194 a0002c0002t0007g0194	1	224	0.0045	-35	c.419 others(52): Show c.419-1370_419-1336delATATATATATATATATATATATATATAT ATATTTT	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	4/24			chr12	TogoVar
GRIP1_chr12_66342431_66684076	66531251	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp2 HG03130.hp2 others(5): Show HG02083.hp1 HG02165.hp2 HG03130.hp2 HG03491.hp2 HG04228.hp2 NA18612.hp2 NA19004.hp2 NA19066.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0008 a0001c0001 a0006c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0006c0008t0018	a0001c0001t0001g0081 a0001c0001t0002g0083 a0001c0001t0002g0157 others(5): Show a0001c0001t0001g0081 a0001c0001t0002g0083 a0001c0001t0002g0157 a0001c0001t0002g0181 a0001c0001t0002g0224 a0001c0001t0008g0114 a0001c0001t0011g0078 a0006c0008t0018g0052	8	224	0.0357	-35	c.419 others(52): Show c.419-1372_419-1338delATATATATATATATATATATATATATAT ATATATT	GRIP1	ENSG00000155974.14	transcript	ENST00000359742.9	protein_coding	4/24			chr12	TogoVar
GRM1_chr6_146024062_146442601	146267655	GGGCTGGG others(28): Show GGGCTGGGCTGGGCTGGGCTGGGCTGGGCTCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0115 a0002c0005t0007g0115	1	158	0.0063	-35	c.951 others(54): Show c.951-36951_951-36917delGGGCTGGGCTGGGCTGGGCTGGGCTC GGCTCGGCT	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM1_chr6_146024062_146442601	146267665	GGGCTGGG others(28): Show GGGCTGGGCTGGGCTGGGCTCGGCTCGGCTCGGCTC	G G	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0133 a0001c0004t0005g0133	1	158	0.0063	-35	c.951 others(54): Show c.951-36941_951-36907delGGGCTGGGCTGGGCTCGGCTCGGCTC GGCTCGGCT	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM1_chr6_146024062_146442601	146267677	GCTGGGCT others(28): Show GCTGGGCTCGGCTCGGCTCGGCTCGGCTCGTCTCGT	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0009 a0001c0008t0009	a0001c0008t0009g0001 a0001c0008t0009g0001	1	158	0.0063	-35	c.951 others(54): Show c.951-36931_951-36897delGGGCTCGGCTCGGCTCGGCTCGGCTC GTCTCGTCT	GRM1	ENSG00000152822.15	transcript	ENST00000282753.6	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
GRM7_chr3_6856115_7746533	7099469	ATACACAT others(28): Show ATACACATATATGTATATGTACACGCATTATACATG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03831.hp1 HG00738.hp1 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0001 a0001c0005t0003 a0001c0002t0001 a0001c0005t0003	a0001c0002t0001g0080 a0001c0005t0003g0039 a0001c0002t0001g0080 a0001c0005t0003g0039	2	80	0.0250	-35	c.520 others(54): Show c.520-46911_520-46877delACACATATATGTATATGTACACGCAT TATACATGT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7099541	ACACATAT others(28): Show ACACATATATGTATATGTACACGCATTATACATGTG	A A	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01981.hp2 HG02145.hp1 others(3): Show HG01433.hp1 HG01981.hp2 HG02145.hp1 HG02559.hp1 HG03710.hp2 NA18974.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0010 a0002c0006	a0001c0001t0002 a0001c0003t0001 a0001c0005t0008 others(3): Show a0001c0001t0002 a0001c0003t0001 a0001c0005t0008 a0001c0009t0001 a0001c0010t0002 a0002c0006t0007	a0001c0001t0002g0064 a0001c0003t0001g0052 a0001c0005t0008g0028 others(3): Show a0001c0001t0002g0064 a0001c0003t0001g0052 a0001c0005t0008g0028 a0001c0009t0001g0049 a0001c0010t0002g0077 a0002c0006t0007g0027	6	80	0.0750	-35	c.520 others(54): Show c.520-46764_520-46730delTATGTATATGTACACGCATTATACAT GTGCACATA	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7162729	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03579.hp2 NA18522.hp2 HG02572.hp1 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0002g0025 a0001c0001t0003g0006 a0001c0002t0002g0030 a0001c0001t0002g0025 a0001c0001t0003g0006 a0001c0002t0002g0030	3	80	0.0375	-35	c.736 others(54): Show c.736+16075_736+16109delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GRM7_chr3_6856115_7746533	7572824	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02280.hp2 HG02976.hp2 others(1): Show HG02145.hp2 HG02280.hp2 HG02976.hp2 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0012 a0001c0002 a0001c0008 a0001c0012	a0001c0002t0001 a0001c0002t0003 a0001c0008t0002 others(1): Show a0001c0002t0001 a0001c0002t0003 a0001c0008t0002 a0001c0012t0002	a0001c0002t0001g0004 a0001c0002t0003g0017 a0001c0008t0002g0020 others(1): Show a0001c0002t0001g0004 a0001c0002t0003g0017 a0001c0008t0002g0020 a0001c0012t0002g0073	4	80	0.0500	-35	c.151 others(54): Show c.1516-5597_1516-5563delTATATATATATATATATATATATATA TATATATAT	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	7/9			chr3	TogoVar
GRP_chr18_59215158_59235771	59233222	AATCTAAG others(28): Show AATCTAAGTAGAATGTAGAGATTGCATTATTCACTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0170 a0004c0005t0001g0170	1	408	0.0025	-35	c.27 others(46): Show c.2755_*2789delATCTAAGTAGAATGTAGAGATTGCATTATTCACT T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		2452		chr18	TogoVar
GRP_chr18_59215158_59235771	59234029	ATATTATA others(28): Show ATATTATATATATAGTATATTATATATATAGTATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 NA19090.hp1 NA20905.hp2 HG03669.hp2 NA19090.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005	3	408	0.0074	-35	c.35 others(46): Show c.3562_*3596delTATTATATATATAGTATATTATATATATAGTATA T	GRP	ENSG00000134443.10	transcript	ENST00000256857.7	protein_coding		3259		chr18	TogoVar
GSE1_chr16_85608322_85681200	85637474	TGCAGCAG others(28): Show TGCAGCAGTGGCTATGTATCGAGTCCCCCCTTGATC	T T	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02055.hp2 HG02056.hp1 HG01099.hp1 HG02055.hp2 HG02056.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0041 a0001c0001 a0015c0041	a0001c0001t0012 a0001c0001t0058 a0015c0041t0001 a0001c0001t0012 a0001c0001t0058 a0015c0041t0001	a0001c0001t0012g0210 a0001c0001t0058g0051 a0015c0041t0001g0095 a0001c0001t0012g0210 a0001c0001t0058g0051 a0015c0041t0001g0095	3	290	0.0103	-35	c.226 others(52): Show c.226+3345_226+3379delAGCAGTGGCTATGTATCGAGTCCCCCCT TGATCGC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSE1_chr16_85608322_85681200	85646025	TCTATGCA others(28): Show TCTATGCATGCATTCTACCTGCTTCTACCACGCTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00738.hp2 others(34): Show HG00140.hp1 HG00639.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01167.hp2 HG01243.hp2 HG01358.hp2 HG01891.hp1 HG02055.hp2 HG02165.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02683.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03486.hp1 HG03492.hp2 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp1 NA19043.hp1 NA19066.hp1 NA19079.hp2 NA20129.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0007 a0008 a0011 a0018 a0020 a0025 a0029	a0001c0001 a0001c0002 a0001c0021 others(12): Show a0001c0001 a0001c0002 a0001c0021 a0001c0037 a0002c0004 a0002c0008 a0002c0045 a0003c0009 a0007c0012 a0008c0013 a0011c0052 a0018c0043 a0020c0042 a0025c0033 a0029c0024	a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 others(24): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0020 a0001c0001t0067 a0001c0002t0001 a0001c0002t0005 a0001c0021t0033 a0001c0037t0060 a0002c0004t0002 a0002c0004t0003 a0002c0004t0004 a0002c0004t0008 a0002c0004t0025 a0002c0004t0045 a0002c0008t0001 a0002c0008t0070 a0002c0045t0047 a0003c0009t0005 a0007c0012t0021 a0007c0012t0034 a0008c0013t0021 a0008c0013t0055 a0011c0052t0002 a0018c0043t0003 a0020c0042t0008 a0025c0033t0038 a0029c0024t0023	a0001c0001t0002g0146 a0001c0001t0012g0010 a0001c0001t0012g0210 others(34): Show a0001c0001t0002g0146 a0001c0001t0012g0010 a0001c0001t0012g0210 a0001c0001t0020g0156 a0001c0001t0020g0217 a0001c0001t0067g0111 a0001c0002t0001g0066 a0001c0002t0005g0043 a0001c0002t0005g0078 a0001c0002t0005g0079 a0001c0002t0005g0118 a0001c0002t0005g0126 a0001c0002t0005g0143 a0001c0002t0005g0197 a0001c0021t0033g0225 a0001c0037t0060g0114 a0002c0004t0002g0124 a0002c0004t0003g0226 a0002c0004t0003g0276 a0002c0004t0004g0001 a0002c0004t0008g0068 a0002c0004t0008g0093 a0002c0004t0025g0048 a0002c0004t0045g0252 a0002c0008t0001g0218 a0002c0008t0070g0060 a0002c0045t0047g0056 a0003c0009t0005g0244 a0007c0012t0021g0239 a0007c0012t0034g0214 a0008c0013t0021g0284 a0008c0013t0055g0119 a0011c0052t0002g0122 a0018c0043t0003g0098 a0020c0042t0008g0042 a0025c0033t0038g0209 a0029c0024t0023g0055	37	290	0.1276	-35	c.227 others(52): Show c.227-2354_227-2320delTTCCTATGCATGCATTCTACCTGCTTCT ACCACGC	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr16	TogoVar
GSG1L_chr16_27782528_28068714	27842160	CCAGTAGC others(28): Show CCAGTAGCACGATGTCGCGCGTGCCGAATTTCACAT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0039 a0001c0001t0005g0039	1	240	0.0042	-35	c.662 others(52): Show c.662+2755_662+2789delATGTGAAATTCGGCACGCGCGACATCGT GCTACTG	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	4/6			chr16	TogoVar
GSG1L_chr16_27782528_28068714	27888491	CTTTCTTT others(28): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0225 a0001c0002t0001g0225	1	240	0.0042	-35	c.398 others(52): Show c.398-3888_398-3854delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAA	GSG1L	ENSG00000169181.13	transcript	ENST00000447459.7	protein_coding	2/6			chr16	TogoVar
GSK3B_chr3_119816321_120099447	119954222	GAGAATAG others(28): Show GAGAATAGAATAGAATAGAATAGAATAGAATAGAAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0077 a0001c0001t0023g0077	1	300	0.0033	-35	c.283 others(52): Show c.283-6906_283-6872delATTCTATTCTATTCTATTCTATTCTATT CTATTCT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119954272	TAGAATAG others(28): Show TAGAATAGAATAGAATAGAATAGAATAGAATAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0066 a0001c0001t0027g0066	1	300	0.0033	-35	c.283 others(52): Show c.283-6956_283-6922delTTTCTATTCTATTCTATTCTATTCTATT CTATTCT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	2/10			chr3	TogoVar
GSTM4_chr1_109651099_109666700	109654181	AGAAAGAA others(28): Show AGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0088 a0001c0001t0012g0088	1	364	0.0028	-35	c.-22 others(46): Show c.-2208_-2174delGAAAGAAAGGAAAGAAAGAAAAGAAAGAAAGAAA G	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1917		chr1	TogoVar
GUCY2C_chr12_14607632_14701599	14684582	TTCCTTCC others(28): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp2 HG02486.hp2 HG01884.hp1 HG02258.hp2 HG02486.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0133 a0001c0005t0002g0131 a0001c0005t0002g0132 a0001c0005t0002g0133	3	236	0.0127	-35	c.396 others(52): Show c.396-1360_396-1326delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	3/26			chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14684590	TTCCTTCC others(28): Show TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp2 HG01261.hp1 others(9): Show HG00140.hp2 HG00673.hp2 HG01261.hp1 HG01517.hp1 HG02040.hp1 HG03491.hp2 HG04184.hp2 HG04228.hp1 NA18952.hp1 NA18974.hp2 NA18998.hp1 NA19011.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0057 a0001c0001t0001g0174 a0001c0001t0001g0184 others(9): Show a0001c0001t0001g0057 a0001c0001t0001g0174 a0001c0001t0001g0184 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0005c0010t0001g0194	12	236	0.0509	-35	c.396 others(52): Show c.396-1368_396-1334delGGAAGGAAGGAAGGAAGGAAGGAAGGAA GGAAGGA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding	3/26			chr12	TogoVar
GUCY2C_chr12_14607632_14701599	14696962	GTATATAT others(28): Show GTATATATATATATATATATATATATATAAAGTGTA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp2 HG00642.hp1 others(10): Show HG00099.hp1 HG00609.hp2 HG00642.hp1 HG00738.hp1 HG01109.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp2 HG02004.hp1 HG04199.hp2 NA18522.hp2 NA20129.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0017 a0001c0001 a0001c0017	a0001c0001t0001 a0001c0017t0001 a0001c0001t0001 a0001c0017t0001	a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 others(10): Show a0001c0001t0001g0035 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0017t0001g0112	13	236	0.0551	-35	c.-54 others(44): Show c.-549_-515delTACACTTTATATATATATATATATATATATATATA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		364		chr12	TogoVar
GZMM_chr19_539053_554922	550613	CGAAAACA others(28): Show CGAAAACAGGCCTGTCCCCTGTCACCCCAGCACCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00544.hp2 HG00673.hp2 others(57): Show HG00280.hp2 HG00544.hp2 HG00673.hp2 HG00733.hp1 HG01099.hp2 HG01192.hp2 HG01258.hp2 HG01261.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG03098.hp1 HG03239.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp2 NA18522.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18956.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18977.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18983.hp1 NA18988.hp2 NA19000.hp1 NA19005.hp1 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(3): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0002c0003 a0002c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0006t0001 a0001c0006t0002 a0001c0007t0002 a0002c0003t0001 a0002c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(44): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0051 a0001c0001t0001g0077 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0194 a0001c0001t0001g0209 a0001c0001t0001g0232 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0002t0001g0003 a0001c0002t0001g0017 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0109 a0001c0002t0004g0239 a0001c0006t0001g0016 a0001c0006t0002g0016 a0001c0006t0002g0025 a0001c0006t0002g0066 a0001c0006t0002g0178 a0001c0007t0002g0025 a0001c0007t0002g0068 a0001c0007t0002g0075 a0001c0007t0002g0223 a0002c0003t0001g0216 a0002c0010t0001g0030	60	398	0.1508	-35	c.82 others(44): Show c.823_*857delGAAAACAGGCCTGTCCCCTGTCACCCCAGCACCCT	GZMM	ENSG00000197540.8	transcript	ENST00000264553.6	protein_coding		692		chr19	TogoVar
HACE1_chr6_104723094_104864919	104831965	GAAGAGAA others(28): Show GAAGAGAAGAGAAGAGAGGAAGGAAGGAAGGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0121 a0001c0001t0001g0122	2	346	0.0058	-35	c.534 others(52): Show c.534+1042_534+1076delTCCTTCCTTCCTTCCTTCCTCTCTTCTC TTCTCTT	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	6/23			chr6	TogoVar
HADHB_chr2_26239939_26295465	26292647	CAAAACTA others(28): Show CAAAACTAAGTATCTAAGATGCCTACAGACGAGGTA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	290	0.0035	-35	c.26 others(46): Show c.2695_*2729delAAAACTAAGTATCTAAGATGCCTACAGACGAGGT A	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding		2183		chr2	TogoVar
HAUS8_chr19_17044729_17080452	17055130	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0375 a0001c0004t0003g0375	1	400	0.0025	-35	c.787 others(50): Show c.787+696_787+730delATATATATATATATATATATATTTTTTTTT TTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HDAC5_chr17_44071753_44128641	44098129	CTACTCTG others(28): Show CTACTCTGCCTGAGTCAGGGAAAGGAGGGGCATGGA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0243 a0001c0001t0011g0243	1	296	0.0034	-35	c.95- others(50): Show c.95-4330_95-4296delTCCATGCCCCTCCTTTCCCTGACTCAGGCA GAGTA	HDAC5	ENSG00000108840.16	transcript	ENST00000682912.1	protein_coding	3/26			chr17	TogoVar
HEATR9_chr17_35849955_35873891	35868269	GTTTCCTA others(28): Show GTTTCCTAGAGTAAACTCCACAAGCTGAGTCTTCAA	G G	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	379	0.0026	-35	c.88+ others(48): Show c.88+351_88+385delTTGAAGACTCAGCTTGTGGAGTTTACTCTAGG AAA	HEATR9	ENSG00000270379.6	transcript	ENST00000604834.6	protein_coding	1/14			chr17	TogoVar
HECW1_chr7_43107647_43571001	43336105	TCTTTCTT others(28): Show TCTTTCTTTCTTTCTTTCTTTCTCTCTCTCTCTCTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	182	0.0055	-35	c.460 others(54): Show c.460+15364_460+15398delCTTTCTTTCTTTCTTTCTTTCTCTCT CTCTCTCTC	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	5/29			chr7	TogoVar

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