Joint Open Genome and Omics Platform (JoGo)

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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
GFI1B_chr9_132973694_132996687	132990242	C C	CTCATTTG others(25): Show CTCATTTGCTCATTCATTTGTTCACTCATTCAT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	474	0.0021	32	c.814 others(47): Show c.814+369_814+400dupCATTTGCTCATTCATTTGTTCACTCATTCA TT	GFI1B	ENSG00000165702.15	transcript	ENST00000372122.4	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
GFOD1_chr6_13352830_13492600	13390780	A A	AAAGGAAG others(25): Show AAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	100	0.0100	32	c.254 others(51): Show c.254-25150_254-25119dupCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13390810	A A	AGGAAGGA others(25): Show AGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAG	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19090.hp1 NA19000.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0091 a0001c0001t0102 a0001c0001t0091 a0001c0001t0102	a0001c0001t0091g0090 a0001c0001t0102g0087 a0001c0001t0091g0090 a0001c0001t0102g0087	2	220	0.0091	32	c.254 others(51): Show c.254-25149_254-25148insCTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409088	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp2 HG02129.hp1 others(1): Show HG02055.hp1 HG02055.hp2 HG02129.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0067 a0001c0001t0087 a0001c0001t0122 others(1): Show a0001c0001t0067 a0001c0001t0087 a0001c0001t0122 a0001c0002t0060	a0001c0001t0067g0159 a0001c0001t0087g0154 a0001c0001t0122g0168 others(1): Show a0001c0001t0067g0159 a0001c0001t0087g0154 a0001c0001t0122g0168 a0001c0002t0060g0112	4	168	0.0238	32	c.254 others(51): Show c.254-43458_254-43427dupTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409140	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03471.hp2 NA21309.hp2 HG02257.hp1 HG03471.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0117 a0001c0001t0004 a0001c0001t0117	a0001c0001t0004g0005 a0001c0001t0004g0015 a0001c0001t0117g0173 a0001c0001t0004g0005 a0001c0001t0004g0015 a0001c0001t0117g0173	3	162	0.0185	32	c.254 others(51): Show c.254-43479_254-43478insCTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTC	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFOD1_chr6_13352830_13492600	13409215	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAGAAAGAAGGAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0230 a0001c0001t0143g0230	1	162	0.0062	32	c.254 others(51): Show c.254-43554_254-43553insTTCCTTCTTTCTCTTTCTTTCTTTCT TTCTTT	GFOD1	ENSG00000145990.11	transcript	ENST00000379287.4	protein_coding	1/1			chr6	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0252 a0001c0003t0001g0252	1	199	0.0050	32	c.41 others(43): Show c.4105_*4106insATATATATATATATTTTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	199	0.0050	32	c.41 others(43): Show c.4105_*4106insATATATATATATATATTTTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0253 a0001c0003t0001g0253	1	199	0.0050	32	c.41 others(43): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0201 a0001c0003t0001g0201	1	199	0.0050	32	c.41 others(43): Show c.4105_*4106insATATATATATATATATATATTTTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA2_chr8_21685398_21793875	21694071	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0307 a0002c0002t0041g0307	1	306	0.0033	32	c.127 others(49): Show c.1272+392_1272+393insTATATATATATATATATATATATATATA TATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01891.hp2 HG02145.hp2 others(6): Show HG00323.hp2 HG01891.hp2 HG02145.hp2 HG02293.hp2 NA18943.hp1 NA18948.hp2 NA18974.hp2 NA18990.hp1 NA19060.hp1	a0002 a0002	a0002c0002 a0002c0005 a0002c0007 a0002c0002 a0002c0005 a0002c0007	a0002c0002t0002 a0002c0002t0005 a0002c0002t0026 others(3): Show a0002c0002t0002 a0002c0002t0005 a0002c0002t0026 a0002c0005t0002 a0002c0005t0024 a0002c0007t0002	a0002c0002t0002g0020 a0002c0002t0002g0096 a0002c0002t0002g0155 others(6): Show a0002c0002t0002g0020 a0002c0002t0002g0096 a0002c0002t0002g0155 a0002c0002t0005g0113 a0002c0002t0026g0108 a0002c0005t0002g0049 a0002c0005t0002g0175 a0002c0005t0024g0177 a0002c0007t0002g0023	9	159	0.0566	32	c.127 others(49): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA TATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(25): Show AACACACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03195.hp2 NA20300.hp2 HG03195.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0040 a0002c0003t0039 a0001c0001t0040 a0002c0003t0039	a0001c0001t0040g0057 a0002c0003t0039g0064 a0001c0001t0040g0057 a0002c0003t0039g0064	2	48	0.0417	32	c.17 others(41): Show c.171_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(25): Show ATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0200 a0001c0002t0003g0200	1	121	0.0083	32	c.642 others(49): Show c.642-2334_642-2333insATATATATATATATATATATTTTTTTTT TTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGT1_chr22_24598193_24633996	24605023	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0052 a0002c0002t0004g0052	1	389	0.0026	32	c.-42 others(51): Show c.-429+1509_-429+1510insTATATATATATATATATATATATATA TATATA	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGTA1_chr9_121450040_121504844	121491030	G G	GCAGACAG others(25): Show GCAGACAGAGTTTGCTACATCAAACACCAATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01243.hp1 HG01261.hp1 others(7): Show HG00639.hp1 HG01243.hp1 HG01261.hp1 HG02559.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03041.hp1 HG03098.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 others(7): Show a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0236 a0001c0001t0005g0238	10	336	0.0298	32	c.-10 others(49): Show c.-10+8588_-10+8619dupATATTGGTGTTTGATGTAGCAAACTCTG TCTG	GGTA1	ENSG00000204136.12	transcript	ENST00000481799.6	protein_coding	1/5			chr9	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(25): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0086 a0004c0005t0003g0086	1	363	0.0028	32	c.58- others(45): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01975.hp2 HG01081.hp2 HG01975.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0013 a0003c0003t0003g0003 a0002c0002t0001g0013 a0003c0003t0003g0003	2	13	0.1538	32	c.-12 others(51): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAAAGAAA GAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAAAGAAA others(25): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp1 NA20129.hp1 HG01358.hp1 HG01515.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0003 a0001c0001t0002 a0003c0003t0003	a0001c0001t0002g0017 a0003c0003t0003g0014 a0003c0003t0003g0029 a0001c0001t0002g0017 a0003c0003t0003g0014 a0003c0003t0003g0029	3	14	0.2143	32	c.-12 others(51): Show c.-12+50341_-12+50342insAAGAAAGAAAGAAAGAAAGAAAGAGA AAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG03486.hp2 NA18940.hp1 HG02083.hp1 HG03486.hp2 NA18940.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0001 a0003c0003t0003 a0002c0002t0001 a0003c0003t0003	a0002c0002t0001g0110 a0003c0003t0003g0153 a0003c0003t0003g0178 a0002c0002t0001g0110 a0003c0003t0003g0153 a0003c0003t0003g0178	3	14	0.2143	32	c.-12 others(51): Show c.-12+50354_-12+50385dupGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42534204	A A	ATGTATAT others(25): Show ATGTATATATGTATATATGTACATGTGTATATG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0018 a0004c0007t0018	a0004c0007t0018g0185 a0004c0007t0018g0185	1	167	0.0060	32	c.-11 others(51): Show c.-11-31582_-11-31551dupATATGTACATGTGTATATGTGTATAT ATGTAT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42583878	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0022 a0003c0003t0003g0022	1	175	0.0057	32	c.70+ others(49): Show c.70+17953_70+17954insTATATATATATATATATATATATATATA TATA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF1_chr7_100674507_100699250	100678121	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCTGCCCCCCCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0013 a0013	a0013c0016 a0013c0016	a0013c0016t0042 a0013c0016t0042	a0013c0016t0042g0096 a0013c0016t0042g0096	1	396	0.0025	32	c.35 others(43): Show c.3597_*3598insGGGGGGGGGGGGGGGCAGGGGGGGGGGGGGGG	GIGYF1	ENSG00000146830.11	transcript	ENST00000678049.1	protein_coding		1385		chr7	TogoVar
GIGYF2_chr2_232692331_232865605	232692579	G G	GCCCCCAA others(25): Show GCCCCCAAGTAGCTGGGATTACAGGCTCGCACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0257 a0002c0004t0001g0257	1	374	0.0027	32	c.-49 others(43): Show c.-4923_-4922insCCCCCAAGTAGCTGGGATTACAGGCTCGCACC	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding		4751		chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG03942.hp1 HG01106.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0044 a0001c0001t0004g0103 a0001c0001t0002g0044 a0001c0001t0004g0103	2	125	0.0160	32	c.-44 others(49): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATATA TATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIGYF2_chr2_232692331_232865605	232836351	T T	TATATATA others(25): Show TATATATATACTTATATATATATATAAATATAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA21309.hp2 HG02922.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0300 a0001c0002t0012g0301 a0001c0002t0012g0300 a0001c0002t0012g0301	2	212	0.0094	32	c.276 others(51): Show c.2766+3267_2766+3268insCTTATATATATATATAAATATAAATA TATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	22/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIMAP8_chr7_150445630_150484393	150452673	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0160 a0001c0001t0006g0160	1	369	0.0027	32	c.-29 others(49): Show c.-29+1499_-29+1500insTATATATATATATATATATATATATATA TATA	GIMAP8	ENSG00000171115.4	transcript	ENST00000307271.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr7	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATACACA others(25): Show TATACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0185 a0002c0002t0002g0185	1	197	0.0051	32	c.-8+ others(47): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT AT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(25): Show TATATACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG02155.hp1 NA18945.hp1 others(5): Show HG00733.hp1 HG02155.hp1 NA18945.hp1 NA18946.hp1 NA18975.hp1 NA18983.hp2 NA19005.hp2 NA19077.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 others(5): Show a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0139 a0002c0002t0002g0140 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0182 a0002c0002t0002g0183	8	204	0.0392	32	c.-8+ others(47): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTGTAT AT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GINM1_chr6_149561375_149596748	149592667	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0014 a0005c0008t0014	a0005c0008t0014g0060 a0005c0008t0014g0060	1	364	0.0027	32	c.18 others(43): Show c.1829_*1830insAAAAAAAAAAAAATATATATATATATATATAT	GINM1	ENSG00000055211.14	transcript	ENST00000367419.10	protein_coding		920		chr6	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18982.hp2 HG02083.hp1 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0133 a0001c0001t0004g0255 a0001c0001t0003g0133 a0001c0001t0004g0255	2	164	0.0122	32	c.205 others(49): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTCTTTC others(25): Show CTTCTTTCTTTCTTCTCTCTTCTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0276 a0001c0001t0002g0276	1	242	0.0041	32	c.41 others(43): Show c.4102_*4103insAGAAAGAAAGAGAAGAGAGAAGAAAGAAAGAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GK5_chr3_142152527_142230585	142159851	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0154 a0001c0001t0033g0154	1	239	0.0042	32	c.57 others(43): Show c.5770_*5771insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16	5770		chr3	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAAGAA others(25): Show GGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0089 a0001c0003t0003g0089	1	220	0.0045	32	c.204 others(47): Show c.204+523_204+524insAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GK_chrX_30648423_30736462	30704128	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02293.hp1 HG02886.hp1 HG02055.hp1 HG02293.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0095 a0001c0001t0004g0173 a0001c0001t0004g0175 a0001c0001t0002g0095 a0001c0001t0004g0173 a0001c0001t0004g0175	3	79	0.0380	32	c.851 others(49): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT ATAT	GK	ENSG00000198814.14	transcript	ENST00000427190.6	protein_coding	11/20		INFO_REALIGN_3_PRIME	chrX	TogoVar
GLA_chrX_101392803_101412925	101407461	C C	CGAGAGAG others(25): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	277	0.0036	32	c.194 others(47): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1L2_chr11_134326988_134381324	134341931	A A	ACACCGGC others(25): Show ACACCGGCTCCTGCCCCGGACTCAGCCACCCAG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp1 others(82): Show HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01256.hp2 HG01358.hp2 HG01433.hp1 HG01981.hp2 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG03041.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03516.hp2 HG03654.hp1 HG03831.hp1 HG03927.hp2 HG04184.hp1 NA18522.hp1 NA18941.hp2 NA18943.hp1 NA18945.hp2 NA18950.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18975.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19070.hp1 NA19078.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0009	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0013 a0001c0015 a0001c0017 a0001c0027 a0002c0037 a0007c0035 a0009c0022	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(23): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0002t0002 a0001c0002t0006 a0001c0002t0010 a0001c0002t0016 a0001c0003t0001 a0001c0003t0005 a0001c0004t0004 a0001c0004t0008 a0001c0004t0011 a0001c0005t0002 a0001c0005t0006 a0001c0005t0010 a0001c0007t0002 a0001c0013t0006 a0001c0015t0008 a0001c0015t0022 a0001c0017t0012 a0001c0027t0002 a0002c0037t0021 a0007c0035t0001 a0009c0022t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 others(77): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0176 a0001c0001t0001g0209 a0001c0001t0001g0274 a0001c0001t0001g0285 a0001c0001t0001g0288 a0001c0001t0001g0291 a0001c0001t0003g0008 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0037 a0001c0001t0003g0254 a0001c0001t0003g0293 a0001c0001t0004g0022 a0001c0001t0004g0152 a0001c0001t0004g0164 a0001c0001t0004g0221 a0001c0001t0004g0257 a0001c0001t0005g0068 a0001c0001t0005g0114 a0001c0001t0005g0220 a0001c0001t0005g0222 a0001c0001t0005g0295 a0001c0001t0008g0255 a0001c0001t0008g0256 a0001c0002t0002g0016 a0001c0002t0002g0017 a0001c0002t0002g0024 a0001c0002t0002g0042 a0001c0002t0002g0045 a0001c0002t0002g0063 a0001c0002t0002g0069 a0001c0002t0002g0071 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0096 a0001c0002t0002g0101 a0001c0002t0002g0124 a0001c0002t0002g0210 a0001c0002t0002g0223 a0001c0002t0002g0224 a0001c0002t0002g0226 a0001c0002t0002g0252 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0283 a0001c0002t0002g0289 a0001c0002t0002g0290 a0001c0002t0002g0294 a0001c0002t0002g0296 a0001c0002t0002g0371 a0001c0002t0006g0165 a0001c0002t0010g0024 a0001c0002t0010g0070 a0001c0002t0010g0287 a0001c0002t0016g0292 a0001c0003t0001g0357 a0001c0003t0005g0343 a0001c0003t0005g0361 a0001c0004t0004g0039 a0001c0004t0008g0036 a0001c0004t0011g0219 a0001c0005t0002g0007 a0001c0005t0006g0038 a0001c0005t0006g0263 a0001c0005t0010g0073 a0001c0007t0002g0360 a0001c0013t0006g0326 a0001c0015t0008g0253 a0001c0015t0022g0188 a0001c0017t0012g0225 a0001c0027t0002g0259 a0002c0037t0021g0342 a0007c0035t0001g0280 a0009c0022t0001g0377	85	297	0.2862	32	c.87- others(45): Show c.87-794_87-763dupCCAGCACCGGCTCCTGCCCCGGACTCAGCCAC	GLB1L2	ENSG00000149328.16	transcript	ENST00000535456.7	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLB1_chr3_32991617_33102146	33031640	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0228 a0001c0011t0001g0228	1	248	0.0040	32	c.106 others(51): Show c.1069-7316_1069-7315insATATATATATATATATATTTTTTTTT TTTTTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074369	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	369	0.0027	32	c.76- others(47): Show c.76-1657_76-1656insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074373	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0164 a0003c0004t0001g0164	1	359	0.0028	32	c.76- others(47): Show c.76-1661_76-1660insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074381	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp1 HG03704.hp2 HG02257.hp1 HG02486.hp1 HG03704.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0029 a0004c0007t0001g0354 a0004c0007t0001g0355 a0001c0001t0001g0029 a0004c0007t0001g0354 a0004c0007t0001g0355	3	336	0.0089	32	c.76- others(47): Show c.76-1669_76-1668insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074385	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG03453.hp2 others(3): Show HG02630.hp1 HG02886.hp1 HG03453.hp2 NA18966.hp1 NA18968.hp1 NA18969.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0011 a0003c0004 others(1): Show a0001c0001 a0001c0011 a0003c0004 a0005c0009	a0001c0001t0001 a0001c0011t0001 a0003c0004t0001 others(1): Show a0001c0001t0001 a0001c0011t0001 a0003c0004t0001 a0005c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0091 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0091 a0001c0011t0001g0228 a0003c0004t0001g0020 a0005c0009t0001g0008	6	274	0.0219	32	c.76- others(47): Show c.76-1673_76-1672insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGAAAG others(25): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01361.hp2 HG01981.hp2 others(13): Show HG01106.hp2 HG01361.hp2 HG01981.hp2 HG02056.hp2 HG02523.hp1 HG02572.hp2 HG03491.hp2 HG03492.hp2 NA18747.hp1 NA18953.hp1 NA18961.hp1 NA18965.hp1 NA19004.hp1 NA19057.hp1 NA19077.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0006t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0078 others(13): Show a0001c0001t0001g0019 a0001c0001t0001g0030 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0002g0085 a0001c0006t0001g0086 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0326 a0002c0002t0001g0335 a0002c0003t0001g0262 a0002c0003t0001g0277 a0002c0003t0001g0332	16	35	0.4571	32	c.76- others(47): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(25): Show GAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02273.hp2 NA18971.hp1 NA18980.hp1 HG02273.hp2 NA18971.hp1 NA18980.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 a0001c0001 a0002c0002 a0002c0003	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0001c0001t0001 a0002c0002t0001 a0002c0003t0001	a0001c0001t0001g0073 a0002c0002t0001g0363 a0002c0003t0001g0271 a0001c0001t0001g0073 a0002c0002t0001g0363 a0002c0003t0001g0271	3	22	0.1364	32	c.76- others(47): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTTCTTCC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074389	G G	GAAGGAAG others(25): Show GAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02109.hp1 HG04204.hp2 HG01346.hp1 HG02109.hp1 HG04204.hp2	a0002 a0008 a0002 a0008	a0002c0002 a0008c0013 a0002c0002 a0008c0013	a0002c0002t0001 a0008c0013t0001 a0002c0002t0001 a0008c0013t0001	a0002c0002t0001g0328 a0002c0002t0001g0334 a0008c0013t0001g0012 a0002c0002t0001g0328 a0002c0002t0001g0334 a0008c0013t0001g0012	3	22	0.1364	32	c.76- others(47): Show c.76-1677_76-1676insTCTTTCTTTCTTTCTTTCTTTCTTCCTTCC TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLDC_chr9_6527467_6650729	6599720	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0318 a0001c0005t0001g0318	1	202	0.0050	32	c.115 others(51): Show c.1155+2388_1155+2389insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GLDC	ENSG00000178445.10	transcript	ENST00000321612.8	protein_coding	8/24			chr9	TogoVar
GLDN_chr15_51336655_51413000	51353734	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19060.hp1 HG02109.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0052 a0002c0002t0002g0050 a0001c0001t0005g0052 a0002c0002t0002g0050	2	251	0.0080	32	c.363 others(51): Show c.363+11687_363+11688insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAC	GLDN	ENSG00000186417.15	transcript	ENST00000335449.11	protein_coding	1/9			chr15	TogoVar
GLG1_chr16_74442440_74612114	74479051	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0014	a0001c0008t0014g0178 a0001c0008t0014g0178	1	11	0.0909	32	c.182 others(51): Show c.1827+1189_1827+1190insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	11/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498447	A A	AAAGTATA others(25): Show AAAGTATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	73	0.0137	32	c.775 others(49): Show c.775-1804_775-1803insATATATATATATATATATATATATATAT ACTT	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar
GLG1_chr16_74442440_74612114	74498448	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01496.hp1 HG02080.hp2 others(3): Show HG01358.hp2 HG01496.hp1 HG02080.hp2 HG03654.hp1 HG04199.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0019 a0001c0001t0006 a0001c0001t0019	a0001c0001t0006g0270 a0001c0001t0006g0287 a0001c0001t0006g0316 others(3): Show a0001c0001t0006g0270 a0001c0001t0006g0287 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0019g0272 a0001c0001t0019g0281	6	42	0.1429	32	c.775 others(49): Show c.775-1805_775-1804insTATATATATATATATATATATATATATA TATA	GLG1	ENSG00000090863.12	transcript	ENST00000422840.7	protein_coding	4/25			chr16	TogoVar

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