Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
GSK3B_chr3_119816321_120099447	119865454	ATATATAT others(11): Show ATATATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0065 a0001c0001t0027g0065	1	300	0.0033	-18	c.910 others(35): Show c.910-1867_910-1850delAAAAAATATATATATATA	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	8/10			chr3	TogoVar
GSK3B_chr3_119816321_120099447	119875498	GACACACA others(11): Show GACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp2 HG00544.hp2 others(87): Show HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00639.hp1 HG00733.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01346.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG01993.hp2 HG02015.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02602.hp1 HG02683.hp2 HG02738.hp1 HG03017.hp2 HG03453.hp2 HG03491.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp1 NA18747.hp2 NA18942.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp1 NA18980.hp1 NA18984.hp2 NA18987.hp2 NA18989.hp1 NA18991.hp1 NA18992.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19057.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp2 NA20805.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0039 a0001c0001t0045 a0001c0001t0046 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066	a0001c0001t0001g0154 a0001c0001t0002g0221 a0001c0001t0002g0222 others(87): Show a0001c0001t0001g0154 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0242 a0001c0001t0002g0244 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0272 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0280 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0005g0243 a0001c0001t0005g0245 a0001c0001t0005g0274 a0001c0001t0005g0277 a0001c0001t0005g0278 a0001c0001t0005g0279 a0001c0001t0005g0281 a0001c0001t0005g0287 a0001c0001t0005g0294 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0073 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0017g0001 a0001c0001t0017g0002 a0001c0001t0017g0003 a0001c0001t0019g0241 a0001c0001t0019g0256 a0001c0001t0019g0269 a0001c0001t0021g0273 a0001c0001t0021g0290 a0001c0001t0021g0291 a0001c0001t0031g0253 a0001c0001t0031g0270 a0001c0001t0032g0258 a0001c0001t0033g0225 a0001c0001t0033g0226 a0001c0001t0039g0028 a0001c0001t0045g0068 a0001c0001t0046g0069 a0001c0001t0056g0217 a0001c0001t0057g0218 a0001c0001t0060g0286 a0001c0001t0061g0239 a0001c0001t0062g0229 a0001c0001t0063g0268 a0001c0001t0064g0262 a0001c0001t0065g0298 a0001c0001t0066g0299	90	300	0.3000	-18	c.909 others(33): Show c.909+897_909+914delGTGTGTGTGTGTGTGTGT	GSK3B	ENSG00000082701.17	transcript	ENST00000264235.13	protein_coding	8/10			chr3	TogoVar
GSN_chr9_121263162_121337842	121334772	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp2 HG02486.hp1 HG02738.hp1 others(1): Show HG01071.hp2 HG02486.hp1 HG02738.hp1 HG04199.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0001 a0004c0006t0004 a0001c0001t0001 a0004c0006t0004	a0001c0001t0001g0169 a0004c0006t0004g0224 a0004c0006t0004g0225 others(1): Show a0001c0001t0001g0169 a0004c0006t0004g0224 a0004c0006t0004g0225 a0004c0006t0004g0240	4	322	0.0124	-18	c.21 others(29): Show c.2170_*2187delTGTGTGTGTGTGTGTGTG	GSN	ENSG00000148180.22	transcript	ENST00000432226.7	protein_coding		1931		chr9	TogoVar
GSPT1_chr16_11863128_11920956	11894155	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 HG01952.hp1 others(38): Show HG01081.hp1 HG01258.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02148.hp1 HG02257.hp1 HG02602.hp2 HG02622.hp2 HG02886.hp1 HG02970.hp1 HG03041.hp2 HG03209.hp1 HG03239.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG03927.hp1 HG04184.hp2 HG04228.hp1 NA18945.hp2 NA18948.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18987.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19057.hp2 NA19058.hp1 NA19066.hp1 NA19070.hp2 NA19074.hp2 NA19076.hp1 NA19080.hp2 NA19085.hp2 NA19090.hp1 NA20905.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0004 a0001c0001t0017 a0001c0001t0030 others(2): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0030 a0001c0001t0031 a0003c0006t0034	a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0015 others(35): Show a0001c0001t0004g0001 a0001c0001t0004g0003 a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0035 a0001c0001t0004g0038 a0001c0001t0004g0040 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0017g0019 a0001c0001t0017g0025 a0001c0001t0030g0046 a0001c0001t0031g0039 a0003c0006t0034g0072	41	372	0.1102	-18	c.698 others(33): Show c.698+781_698+798delTTTTTTTTTTTTTTTTTT	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	5/14			chr16	TogoVar
GSPT1_chr16_11863128_11920956	11895629	CCTTTTTT others(11): Show CCTTTTTTTCCCCACGAGA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0190 a0001c0001t0008g0190	1	372	0.0027	-18	c.665 others(33): Show c.665-660_665-643delTCTCGTGGGGAAAAAAAG	GSPT1	ENSG00000103342.13	transcript	ENST00000434724.7	protein_coding	4/14			chr16	TogoVar
GSR_chr8_30673066_30732846	30712607	AAGGCTGC others(11): Show AAGGCTGCAGTAAGCCATG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0328 a0001c0004t0005g0328	1	348	0.0029	-18	c.307 others(33): Show c.307-537_307-520delCATGGCTTACTGCAGCCT	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding	1/12			chr8	TogoVar
GSR_chr8_30673066_30732846	30728456	TTTTTTAT others(11): Show TTTTTTATTTTTTTTATTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp2 HG02886.hp1 others(7): Show HG01891.hp1 HG01891.hp2 HG02886.hp1 HG02886.hp2 HG02970.hp1 HG03139.hp1 HG03225.hp1 HG03942.hp2 NA18522.hp2 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0001c0004 a0002c0002 others(1): Show a0001c0003 a0001c0004 a0002c0002 a0004c0006	a0001c0003t0005 a0001c0003t0012 a0001c0003t0025 others(6): Show a0001c0003t0005 a0001c0003t0012 a0001c0003t0025 a0001c0003t0042 a0001c0004t0003 a0002c0002t0001 a0002c0002t0019 a0002c0002t0020 a0004c0006t0018	a0001c0003t0005g0008 a0001c0003t0012g0012 a0001c0003t0025g0010 others(7): Show a0001c0003t0005g0008 a0001c0003t0012g0012 a0001c0003t0025g0010 a0001c0003t0042g0007 a0001c0004t0003g0339 a0002c0002t0001g0324 a0002c0002t0001g0331 a0002c0002t0019g0321 a0002c0002t0020g0322 a0004c0006t0018g0344	10	348	0.0287	-18	c.-63 others(27): Show c.-639_-622delTAATAAAAAAAATAAAAA	GSR	ENSG00000104687.14	transcript	ENST00000221130.11	protein_coding		611		chr8	TogoVar
GSTA2_chr6_52745087_52768475	52759563	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19078.hp1 NA18975.hp2 NA19078.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0056 a0003c0003t0001g0056	2	440	0.0046	-18	c.-30 others(35): Show c.-30-1604_-30-1587delAAAAAAAAAAAAAAAAAA	GSTA2	ENSG00000244067.3	transcript	ENST00000493422.3	protein_coding	1/6			chr6	TogoVar
GSTK1_chr7_143258441_143274115	143263451	CAGCCTCT others(11): Show CAGCCTCTGCCGGGTTCCG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0029	1	382	0.0026	-18	c.-62 others(25): Show c.-62_-45delAGCCTCTGCCGGGTTCCG	GSTK1	ENSG00000197448.14	transcript	ENST00000358406.10	protein_coding	1/8	45		chr7	TogoVar
GSTM4_chr1_109651099_109666700	109654195	GAAAGAAA others(11): Show GAAAGAAAAGAAAGAAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	364	0.0028	-18	c.-21 others(29): Show c.-2194_-2177delAAAGAAAAGAAAGAAAGA	GSTM4	ENSG00000168765.19	transcript	ENST00000369836.9	protein_coding		1903		chr1	TogoVar
GSTO2_chr10_104264184_104309950	104272587	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp2 HG02040.hp1 others(15): Show HG01074.hp2 HG01243.hp2 HG02040.hp1 HG02615.hp2 HG02723.hp1 HG02818.hp1 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03579.hp1 HG03834.hp1 NA18988.hp2 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0001c0007 others(1): Show a0001c0002 a0001c0003 a0001c0007 a0002c0001	a0001c0002t0001 a0001c0003t0003 a0001c0003t0009 others(3): Show a0001c0002t0001 a0001c0003t0003 a0001c0003t0009 a0001c0007t0023 a0002c0001t0001 a0002c0001t0028	a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0001g0088 others(12): Show a0001c0002t0001g0076 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0222 a0001c0003t0003g0018 a0001c0003t0003g0072 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0075 a0001c0003t0009g0079 a0001c0003t0009g0220 a0001c0007t0023g0071 a0002c0001t0001g0007 a0002c0001t0001g0026 a0002c0001t0028g0026	18	300	0.0600	-18	c.-23 others(37): Show c.-231-2071_-231-2054delTTTTTTTTTTTTTTTTTT	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
GSTO2_chr10_104264184_104309950	104306052	TGTGCGCG others(11): Show TGTGCGCGCGCGCGCGCGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02109.hp1 HG02165.hp1 others(3): Show HG02015.hp1 HG02109.hp1 HG02165.hp1 HG03486.hp1 NA18957.hp1 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 others(1): Show a0001c0002 a0001c0003 a0002c0001 a0002c0005	a0001c0002t0039 a0001c0003t0003 a0002c0001t0001 others(1): Show a0001c0002t0039 a0001c0003t0003 a0002c0001t0001 a0002c0005t0008	a0001c0002t0039g0014 a0001c0003t0003g0004 a0001c0003t0003g0017 others(2): Show a0001c0002t0039g0014 a0001c0003t0003g0004 a0001c0003t0003g0017 a0002c0001t0001g0029 a0002c0005t0008g0144	6	300	0.0200	-18	c.67 others(29): Show c.6769_*6786delGTGCGCGCGCGCGCGCGC	GSTO2	ENSG00000065621.15	transcript	ENST00000338595.7	protein_coding		1103		chr10	TogoVar
GTF2H2_chr5_71030347_71072676	71030448	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	79	0.0127	-18	c.52 others(29): Show c.5211_*5228delTTTTTTTTTTTTTTTTTT	GTF2H2	ENSG00000145736.15	transcript	ENST00000274400.10	protein_coding		4898		chr5	TogoVar
GTF2H5_chr6_158163350_158204344	158169636	TACATATA others(11): Show TACATATATTGTATATTAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG03486.hp2 HG02622.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0108 a0001c0001t0109 a0001c0001t0108 a0001c0001t0109	a0001c0001t0108g0071 a0001c0001t0109g0072 a0001c0001t0108g0071 a0001c0001t0109g0072	2	384	0.0052	-18	c.-34 others(33): Show c.-34-832_-34-815delCATATATTGTATATTACA	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr6	TogoVar
GTF2H5_chr6_158163350_158204344	158201363	TTTTGTGT others(11): Show TTTTGTGTGTGTGTGTGTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0100 a0001c0001t0100	a0001c0001t0100g0194 a0001c0001t0100g0194	1	384	0.0026	-18	c.92 others(29): Show c.9207_*9224delTTTGTGTGTGTGTGTGTG	GTF2H5	ENSG00000272047.4	transcript	ENST00000607778.2	protein_coding		2020		chr6	TogoVar
GTF2I_chr7_74652718_74765692	74761631	TACACACA others(11): Show TACACACACACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02897.hp1 HG02622.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007	3	174	0.0172	-18	c.21 others(29): Show c.2102_*2119delACACACACACACACACAC	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding		940		chr7	TogoVar
GTF2I_chr7_74652718_74765692	74761653	CACACACA others(11): Show CACACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02886.hp2 HG03041.hp1 others(1): Show HG02622.hp2 HG02886.hp2 HG03041.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058	4	174	0.0230	-18	c.21 others(29): Show c.2124_*2141delACACACACACACACACAT	GTF2I	ENSG00000263001.8	transcript	ENST00000573035.6	protein_coding		962		chr7	TogoVar
GTF3C2_chr2_27320854_27361764	27338446	GCACGCGC others(11): Show GCACGCGCACGCGCGCACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(88): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp2 NA18955.hp1 NA18966.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA18990.hp2 NA19000.hp2 NA19076.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(65): Show a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0188 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0196 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0240 a0001c0002t0001g0243 a0001c0002t0001g0244	91	286	0.3182	-18	c.856 others(33): Show c.856-444_856-427delTGTGCGCGCGTGCGCGTG	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding	4/18			chr2	TogoVar
GTF3C2_chr2_27320854_27361764	27346330	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(89): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00639.hp1 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp2 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp2 HG02735.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03225.hp1 HG03490.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03688.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp2 NA18955.hp1 NA18966.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18985.hp1 NA18988.hp2 NA19000.hp1 NA19000.hp2 NA19079.hp2 NA19084.hp1 NA19085.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0010t0001	a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0002t0001g0001 others(68): Show a0001c0001t0001g0103 a0001c0001t0001g0115 a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0240 a0001c0005t0001g0160 a0001c0005t0001g0195 a0001c0010t0001g0034	92	286	0.3217	-18	c.-24 others(35): Show c.-24-2770_-24-2753delAAAAAAAAAAAAAAAAAA	GTF3C2	ENSG00000115207.15	transcript	ENST00000264720.8	protein_coding	1/18			chr2	TogoVar
GTF3C6_chr6_110953706_110972872	110955318	TAGGAATT others(11): Show TAGGAATTCTAAGTCATTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	346	0.0029	-18	c.-34 others(29): Show c.-3451_-3434delAGGAATTCTAAGTCATTG	GTF3C6	ENSG00000155115.7	transcript	ENST00000329970.8	protein_coding		3387		chr6	TogoVar
GTPBP10_chr7_90341716_90396453	90376147	ATGGCGTG others(11): Show ATGGCGTGAACCTGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp1 HG02897.hp1 others(1): Show HG00738.hp1 HG02896.hp1 HG02897.hp1 HG03453.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0015 a0003c0003t0029 a0003c0003t0015 a0003c0003t0029	a0003c0003t0015g0025 a0003c0003t0015g0058 a0003c0003t0029g0059 a0003c0003t0015g0025 a0003c0003t0015g0058 a0003c0003t0029g0059	4	390	0.0103	-18	c.592 others(35): Show c.592-1356_592-1339delCGTGAACCTGGGAGGTGG	GTPBP10	ENSG00000105793.16	transcript	ENST00000222511.11	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
GTPBP1_chr22_38700944_38738587	38704284	TTGTTTTT others(11): Show TTGTTTTTTTGTTTTTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0151 a0001c0001t0009g0151	1	382	0.0026	-18	c.-16 others(29): Show c.-1671_-1654delTGTTTTTTTGTTTTTTTG	GTPBP1	ENSG00000100226.16	transcript	ENST00000216044.10	protein_coding		1659		chr22	TogoVar
GTPBP3_chr19_17332553_17347731	17343012	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(67): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00642.hp2 HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02055.hp1 HG02135.hp1 HG02148.hp1 HG02257.hp2 HG02572.hp1 HG02622.hp2 HG02698.hp2 HG02818.hp1 HG02896.hp2 HG03098.hp1 HG03139.hp1 HG03490.hp2 HG03492.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18946.hp1 NA18951.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18968.hp2 NA18975.hp1 NA18977.hp2 NA18984.hp1 NA18990.hp2 NA18992.hp1 NA18993.hp2 NA19004.hp1 NA19070.hp1 NA19086.hp1 NA19090.hp1 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0011	a0001c0001 a0002c0002 a0002c0017 others(2): Show a0001c0001 a0002c0002 a0002c0017 a0005c0005 a0011c0021	a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 others(8): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0009 a0002c0002t0014 a0002c0017t0003 a0005c0005t0001 a0005c0005t0003 a0005c0005t0015 a0011c0021t0003	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 others(17): Show a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0010 a0002c0002t0001g0001 a0002c0002t0001g0018 a0002c0002t0001g0051 a0002c0002t0002g0005 a0002c0002t0003g0005 a0002c0002t0003g0014 a0002c0002t0003g0023 a0002c0002t0003g0060 a0002c0002t0009g0005 a0002c0002t0014g0005 a0002c0017t0003g0037 a0005c0005t0001g0001 a0005c0005t0001g0013 a0005c0005t0003g0005 a0005c0005t0003g0014 a0005c0005t0015g0005 a0011c0021t0003g0005	70	408	0.1716	-18	c.13 others(29): Show c.1310_*1327delGTGTGTGTGTGTGTGTGT	GTPBP3	ENSG00000130299.17	transcript	ENST00000324894.13	protein_coding		282		chr19	TogoVar
GTSF1_chr12_54450957_54478602	54471030	CCTTTTCA others(11): Show CCTTTTCAAAGCTTTATGA	C C	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	360	0.0028	-18	c.16+ others(31): Show c.16+185_16+202delTCATAAAGCTTTGAAAAG	GTSF1	ENSG00000170627.11	transcript	ENST00000305879.8	protein_coding	2/8			chr12	TogoVar
GTSF1_chr12_54450957_54478602	54476544	TTGTGTGT others(11): Show TTGTGTGTGTGTGTGTGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp2 HG00408.hp1 others(78): Show HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00733.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01243.hp1 HG01257.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01934.hp2 HG01978.hp1 HG01993.hp2 HG02083.hp2 HG02258.hp2 HG02293.hp1 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp1 HG02886.hp1 HG02895.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp2 HG03139.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA18941.hp1 NA18944.hp2 NA18957.hp2 NA18961.hp2 NA18969.hp2 NA18972.hp2 NA18973.hp1 NA18978.hp2 NA18980.hp1 NA18988.hp2 NA19005.hp2 NA19011.hp2 NA19057.hp2 NA19058.hp2 NA19063.hp2 NA19064.hp1 NA19068.hp2 NA19082.hp2 NA19090.hp2 NA20129.hp1 NA20300.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0118 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0022 a0001c0001t0002g0041 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0139	81	360	0.2250	-18	c.-30 others(29): Show c.-3046_-3029delCACACACACACACACACA	GTSF1	ENSG00000170627.11	transcript	ENST00000305879.8	protein_coding		2943		chr12	TogoVar
GUCA1A_chr6_42168364_42185056	42169915	AAATAATA others(11): Show AAATAATAATAATAATAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02630.hp1 HG02818.hp1 others(4): Show HG01891.hp1 HG02630.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0002 a0001c0001t0009 a0003c0004t0007 a0001c0001t0002 a0001c0001t0009 a0003c0004t0007	a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0039 others(2): Show a0001c0001t0002g0024 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0009g0026 a0003c0004t0007g0015	7	412	0.0170	-18	c.-36 others(29): Show c.-3698_-3681delAATAATAATAATAATAAT	GUCA1A	ENSG00000048545.18	transcript	ENST00000372958.2	protein_coding		3448		chr6	TogoVar
GUCA1C_chr3_108902792_108958879	108922154	TACACAAA others(11): Show TACACAAACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02976.hp2 HG03471.hp2 others(6): Show HG01192.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2	a0002 a0004 a0006 a0002 a0004 a0006	a0002c0002 a0004c0005 a0006c0008 a0002c0002 a0004c0005 a0006c0008	a0002c0002t0001 a0004c0005t0001 a0006c0008t0001 a0002c0002t0001 a0004c0005t0001 a0006c0008t0001	a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 others(6): Show a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0305 a0002c0002t0001g0306 a0002c0002t0001g0307 a0004c0005t0001g0233 a0004c0005t0001g0234 a0006c0008t0001g0069	9	374	0.0241	-18	c.205 others(35): Show c.205-1587_205-1570delGTGTGTGTGTGTTTGTGT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding	1/3			chr3	TogoVar
GUCA1C_chr3_108902792_108958879	108955590	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG00733.hp1 others(39): Show HG00597.hp1 HG00609.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp2 HG02015.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03239.hp2 HG03490.hp1 HG03669.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA19043.hp1 NA19043.hp2 NA19078.hp2 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0002 a0003 a0006 a0002 a0003 a0006	a0002c0002 a0003c0003 a0006c0008 a0002c0002 a0003c0003 a0006c0008	a0002c0002t0001 a0003c0003t0001 a0006c0008t0001 a0002c0002t0001 a0003c0003t0001 a0006c0008t0001	a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0074 others(38): Show a0002c0002t0001g0068 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0081 a0003c0003t0001g0009 a0003c0003t0001g0070 a0003c0003t0001g0071 a0003c0003t0001g0079 a0003c0003t0001g0323 a0003c0003t0001g0324 a0003c0003t0001g0325 a0003c0003t0001g0326 a0003c0003t0001g0327 a0003c0003t0001g0329 a0003c0003t0001g0330 a0003c0003t0001g0331 a0003c0003t0001g0332 a0003c0003t0001g0333 a0003c0003t0001g0334 a0003c0003t0001g0335 a0003c0003t0001g0336 a0003c0003t0001g0337 a0003c0003t0001g0339 a0003c0003t0001g0340 a0003c0003t0001g0341 a0003c0003t0001g0342 a0003c0003t0001g0343 a0003c0003t0001g0344 a0003c0003t0001g0345 a0003c0003t0001g0347 a0003c0003t0001g0349 a0003c0003t0001g0350 a0003c0003t0001g0351 a0003c0003t0001g0353 a0003c0003t0001g0354 a0003c0003t0001g0355 a0006c0008t0001g0069	42	374	0.1123	-18	c.-18 others(29): Show c.-1846_-1829delTTTTTTTTTTTTTTTTTT	GUCA1C	ENSG00000138472.11	transcript	ENST00000261047.8	protein_coding		1712		chr3	TogoVar
GUCA2A_chr1_42157690_42169745	42166727	ACTGAGGT others(11): Show ACTGAGGTGCGTATGTGTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(119): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp2 HG00738.hp1 HG00741.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01258.hp1 HG01884.hp1 HG01928.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18955.hp1 NA18955.hp2 NA18961.hp2 NA18964.hp1 NA18967.hp2 NA18968.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19007.hp1 NA19011.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19062.hp1 NA19065.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19082.hp2 NA19083.hp2 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0001 a0001c0008 a0002c0002 others(3): Show a0001c0001 a0001c0008 a0002c0002 a0003c0003 a0004c0005 a0006c0009	a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0008t0001 a0002c0002t0001 a0003c0003t0001 a0004c0005t0001 a0006c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(13): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0008t0001g0028 a0002c0002t0001g0001 a0003c0003t0001g0006 a0004c0005t0001g0016 a0006c0009t0001g0029	122	436	0.2798	-18	c.-20 others(29): Show c.-2033_-2016delCACACATACGCACCTCAG	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		1983		chr1	TogoVar
GUCA2A_chr1_42157690_42169745	42167140	GTGTGTGT others(11): Show GTGTGTGTGTGTGCTGAGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG01081.hp1 HG01433.hp1 others(2): Show HG00642.hp1 HG01081.hp1 HG01433.hp1 HG02109.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	5	436	0.0115	-18	c.-24 others(29): Show c.-2446_-2429delGCTCAGCACACACACACA	GUCA2A	ENSG00000197273.4	transcript	ENST00000357001.3	protein_coding		2396		chr1	TogoVar
GUCY1A1_chr4_155661848_155742059	155711482	ATATCTTT others(11): Show ATATCTTTATGGAATGTTT	A A	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0170 a0001c0001t0060g0170	1	330	0.0030	-18	c.108 others(35): Show c.1086+235_1086+252delCTTTATGGAATGTTTTAT	GUCY1A1	ENSG00000164116.17	transcript	ENST00000506455.6	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr4	TogoVar
GUCY1A2_chr11_106669019_107023476	106922662	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01099.hp1 HG01517.hp2 others(19): Show HG00099.hp1 HG01099.hp1 HG01517.hp2 HG02055.hp2 HG02280.hp2 HG02738.hp1 HG03017.hp1 HG03453.hp1 HG03490.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp1 HG03942.hp1 NA18951.hp1 NA18953.hp2 NA18971.hp2 NA18974.hp2 NA18993.hp1 NA19003.hp1 NA19079.hp1 NA20129.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0024 a0001c0001t0030 a0001c0001t0051 a0001c0001t0064 a0001c0002t0005 a0001c0004t0001 a0001c0004t0002 a0001c0004t0058	a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0139 others(19): Show a0001c0001t0001g0122 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0153 a0001c0001t0003g0145 a0001c0001t0005g0119 a0001c0001t0006g0152 a0001c0001t0007g0144 a0001c0001t0024g0161 a0001c0001t0030g0163 a0001c0001t0051g0112 a0001c0001t0064g0142 a0001c0002t0005g0222 a0001c0004t0001g0212 a0001c0004t0002g0211 a0001c0004t0058g0217	22	256	0.0859	-18	c.120 others(39): Show c.1206+16780_1206+16797delATATATATATATATATAT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	4/7			chr11	TogoVar
GUCY2C_chr12_14607632_14701599	14696993	GTGTATAT others(11): Show GTGTATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0014 a0001c0011t0001g0014	1	236	0.0042	-18	c.-56 others(27): Show c.-563_-546delTATATATATATATATACA	GUCY2C	ENSG00000070019.5	transcript	ENST00000261170.5	protein_coding		395		chr12	TogoVar
GULP1_chr2_188286874_188600926	188323648	ATATGTGT others(11): Show ATATGTGTGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0012 a0001c0001t0028g0012	1	162	0.0062	-18	c.-17 others(39): Show c.-172+31484_-172+31501delATGTGTGTGTGTGTGTGT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GULP1_chr2_188286874_188600926	188368923	GTATATAT others(11): Show GTATATATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0085 a0001c0001t0023g0085	1	162	0.0062	-18	c.-17 others(39): Show c.-171-14828_-171-14811delGTGTGTATATATATATAT	GULP1	ENSG00000144366.17	transcript	ENST00000409830.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
GXYLT1_chr12_42076845_42149874	42098760	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0161 a0001c0003t0001g0161	1	398	0.0025	-18	c.865 others(33): Show c.865-745_865-728delATATATATATATATATAT	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	5/7			chr12	TogoVar
GXYLT2_chr3_72883046_72981915	72902366	ATCAGAAA others(11): Show ATCAGAAAGCCAGAAATTG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG02080.hp1 NA18612.hp2 others(2): Show HG00597.hp2 HG02080.hp1 NA18612.hp2 NA18994.hp2 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 others(2): Show a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0146	5	296	0.0169	-18	c.276 others(35): Show c.276-5996_276-5979delAAAGCCAGAAATTGTCAG	GXYLT2	ENSG00000172986.13	transcript	ENST00000389617.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
GYG2_chrX_2823930_2887818	2837838	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA20300.hp2 HG03225.hp1 NA20300.hp2	a0002 a0015 a0002 a0015	a0002c0006 a0015c0013 a0002c0006 a0015c0013	a0002c0006t0003 a0015c0013t0005 a0002c0006t0003 a0015c0013t0005	a0002c0006t0003g0036 a0015c0013t0005g0037 a0002c0006t0003g0036 a0015c0013t0005g0037	2	316	0.0063	-18	c.8-5 others(31): Show c.8-5361_8-5344delCACACACACACACACACA	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYG2_chrX_2823930_2887818	2846053	ATATTTTT others(11): Show ATATTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	316	0.0032	-18	c.149 others(35): Show c.149+2701_149+2718delATTTTTTTTTTTTTTTTT	GYG2	ENSG00000056998.21	transcript	ENST00000398806.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
GYPC_chr2_126651158_126701667	126663950	GTCTCTCT others(11): Show GTCTCTCTCTCTCTCTCTC	G G	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG03017.hp1 NA18747.hp1 others(4): Show HG00621.hp2 HG03017.hp1 NA18747.hp1 NA18961.hp2 NA18963.hp1 NA18977.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0131 a0001c0001t0001g0304 a0001c0001t0002g0302 others(4): Show a0001c0001t0001g0131 a0001c0001t0001g0304 a0001c0001t0002g0302 a0001c0001t0002g0306 a0001c0002t0001g0301 a0001c0002t0001g0303 a0001c0002t0001g0305	7	416	0.0168	-18	c.49+ others(33): Show c.49+7672_49+7689delCTCTCTCTCTCTCTCTCT	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
GYS1_chr19_48963130_48998309	48979336	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG00558.hp1 others(34): Show HG00140.hp2 HG00408.hp2 HG00558.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01517.hp2 HG01934.hp1 HG01952.hp1 HG02080.hp1 HG02135.hp2 HG02145.hp1 HG02280.hp1 HG02559.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02965.hp2 HG03017.hp2 HG03209.hp2 HG03453.hp1 HG03579.hp2 HG03834.hp2 NA18906.hp1 NA18945.hp1 NA19012.hp1 NA19058.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0016 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004	a0001c0001t0001g0017 a0001c0001t0001g0130 a0001c0001t0001g0239 others(31): Show a0001c0001t0001g0017 a0001c0001t0001g0130 a0001c0001t0001g0239 a0001c0001t0001g0258 a0001c0001t0002g0007 a0001c0001t0002g0054 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0089 a0001c0001t0002g0115 a0001c0001t0002g0126 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0178 a0001c0001t0002g0210 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0002g0291 a0001c0001t0002g0316 a0001c0001t0002g0331 a0001c0001t0004g0006 a0001c0001t0004g0036 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0050 a0001c0001t0016g0134 a0001c0002t0001g0067 a0001c0002t0001g0180 a0001c0002t0002g0120 a0001c0002t0002g0281 a0001c0002t0004g0045 a0001c0002t0004g0046	37	390	0.0949	-18	c.117 others(37): Show c.1170-1197_1170-1180delAAAAAAAAAAAAAAAAAA	GYS1	ENSG00000104812.15	transcript	ENST00000323798.8	protein_coding	8/15			chr19	TogoVar
H1-2_chr6_26050740_26061470	26055598	ACCTCACC others(11): Show ACCTCACCACGGCCACTCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0000 a0001c0003t0001g0000	1	422	0.0024	-18	c.17 others(27): Show c.171_*188delAGAGTGGCCGTGGTGAGG	H1-2	ENSG00000187837.4	transcript	ENST00000343677.4	protein_coding		141		chr6	TogoVar
H1-4_chr6_26151329_26162115	26153752	CTATTATT others(11): Show CTATTATTATTATTATTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02622.hp1 HG00735.hp2 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	388	0.0077	-18	c.-26 others(29): Show c.-2638_-2621delTATTATTATTATTATTAT	H1-4	ENSG00000168298.7	transcript	ENST00000304218.6	protein_coding		2576		chr6	TogoVar
H1-8_chr3_129538175_129556467	129540468	GTATATAT others(11): Show GTATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG01346.hp1 HG02523.hp2 others(17): Show HG00597.hp2 HG01346.hp1 HG02523.hp2 NA18939.hp1 NA18940.hp1 NA18944.hp1 NA18948.hp2 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18988.hp2 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19054.hp2 NA19062.hp1 NA19065.hp1 NA19070.hp1 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0078 others(2): Show a0002c0002t0001g0003 a0002c0002t0001g0019 a0002c0002t0001g0078 a0002c0002t0001g0095 a0002c0002t0001g0118	20	422	0.0474	-18	c.-27 others(29): Show c.-2750_-2733delTATATATATATATATATA	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2706		chr3	TogoVar
H1-8_chr3_129538175_129556467	129540506	ATATATAT others(11): Show ATATATATATATATATATT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0010	1	422	0.0024	-18	c.-27 others(29): Show c.-2712_-2695delTATATATATATATATATT	H1-8	ENSG00000178804.8	transcript	ENST00000324382.7	protein_coding		2668		chr3	TogoVar
H2AC19_chr1_149846061_149856594	149855751	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	328	0.0031	-18	c.42 others(29): Show c.4246_*4263delGTGTGTGTGTGTGTGTGA	H2AC19	ENSG00000288859.1	transcript	ENST00000607355.3	protein_coding		4158		chr1	TogoVar
H2AC1_chr6_25721063_25731562	25729476	AAGCAAGA others(11): Show AAGCAAGAGGAGTCTTCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	414	0.0024	-18	c.-29 others(29): Show c.-2967_-2950delGGGAAGACTCCTCTTGCT	H2AC1	ENSG00000164508.6	transcript	ENST00000297012.5	protein_coding		2915		chr6	TogoVar
H2AZ2_chr7_44826978_44853087	44843137	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG01081.hp2 others(1): Show HG00741.hp2 HG01070.hp1 HG01081.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0028 a0001c0001t0001 a0001c0001t0028	a0001c0001t0001g0013 a0001c0001t0028g0296 a0001c0001t0001g0013 a0001c0001t0028g0296	4	406	0.0099	-18	c.81+ others(31): Show c.81+122_81+139delTTTTTTTTTTTTTTTTTT	H2AZ2	ENSG00000105968.19	transcript	ENST00000308153.9	protein_coding	2/4			chr7	TogoVar
H2BC1_chr6_25721777_25732345	25729476	AAGCAAGA others(11): Show AAGCAAGAGGAGTCTTCCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	418	0.0024	-18	c.21 others(29): Show c.2185_*2202delAGCAAGAGGAGTCTTCCC	H2BC1	ENSG00000146047.7	transcript	ENST00000274764.5	protein_coding		2132		chr6	TogoVar
H2BC5_chr6_26153122_26163607	26153752	CTATTATT others(11): Show CTATTATTATTATTATTAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG02258.hp1 HG02622.hp1 HG00735.hp2 HG02258.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	380	0.0079	-18	c.-44 others(29): Show c.-4417_-4400delTATTATTATTATTATTAT	H2BC5	ENSG00000158373.9	transcript	ENST00000377777.6	protein_coding		4369		chr6	TogoVar

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