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
GFPT2_chr5_180295698_180358336	180297458	A A	AAAAAAAA others(21): Show AAAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0332 a0001c0003t0002g0332	1	412	0.0024	28	c.41 others(39): Show c.4105_*4106insATATATATATATATATATTTTTTTTTTT	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3239		chr5	TogoVar
GFRA1_chr10_116051925_116278206	116205596	G G	GATATATA others(21): Show GATATATATATATATAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0160 a0001c0002t0002g0160	1	214	0.0047	28	c.433 others(45): Show c.433+6034_433+6035insATATATATATATTTATATATATATATAT	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	5/10			chr10	TogoVar
GFRA1_chr10_116051925_116278206	116244319	T T	TTTTAATA others(21): Show TTTTAATAATTAAAATTTAATTTTATTTC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0085 a0001c0001t0032g0085	1	214	0.0047	28	c.418 others(47): Show c.418+25183_418+25184insGAAATAAAATTAAATTTTAATTATTA AA	GFRA1	ENSG00000151892.16	transcript	ENST00000355422.11	protein_coding	4/10			chr10	TogoVar
GFRA2_chr8_21685398_21793875	21694075	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 NA19009.hp2 HG00735.hp2 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0002 a0002c0005	a0002c0002t0003 a0002c0005t0003 a0002c0002t0003 a0002c0005t0003	a0002c0002t0003g0262 a0002c0005t0003g0247 a0002c0002t0003g0262 a0002c0005t0003g0247	2	322	0.0062	28	c.127 others(45): Show c.1272+388_1272+389insTATATATATATATATATATATATATATA	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	8/8			chr8	TogoVar
GFRA2_chr8_21685398_21793875	21759528	A A	AGGAAGGA others(21): Show AGGAAGGAAGGAAGGAAGGAAGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0304 a0001c0006t0009g0304	1	322	0.0031	28	c.440 others(45): Show c.440-8587_440-8586insCTCCCTCCTTCCTTCCTTCCTTCCTTCC	GFRA2	ENSG00000168546.11	transcript	ENST00000524240.6	protein_coding	3/8			chr8	TogoVar
GFRAL_chr6_55322469_55407493	55395175	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0135 a0003c0003t0002g0135	1	386	0.0026	28	c.953 others(45): Show c.953-3986_953-3985insTATATATATATATATATATATATATATA	GFRAL	ENSG00000187871.2	transcript	ENST00000340465.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
GFUS_chr8_143607618_143622549	143619147	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02486.hp1 NA19240.hp1 HG02040.hp1 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0004 a0001c0001t0003g0009 a0001c0001t0001g0004 a0001c0001t0003g0009	3	415	0.0072	28	c.-16 others(39): Show c.-1686_-1685insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GFUS	ENSG00000104522.16	transcript	ENST00000425753.7	protein_coding		1599		chr8	TogoVar
GGA2_chr16_23458542_23515494	23467387	A A	AACACACA others(21): Show AACACACACACACACACACACACACACAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01516.hp2 HG02895.hp2 HG02897.hp2 HG01516.hp2 HG02895.hp2 HG02897.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0072 a0002c0002t0024 a0002c0002t0072	a0002c0002t0024g0001 a0002c0002t0072g0218 a0002c0002t0024g0001 a0002c0002t0072g0218	3	254	0.0118	28	c.17 others(37): Show c.175_*202dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGA2	ENSG00000103365.15	transcript	ENST00000309859.8	protein_coding	17/17	202		chr16	TogoVar
GGACT_chr13_100525180_100593789	100577797	A A	AAAGGGGA others(21): Show AAAGGGGAGAAGGAAAGTAGGGAGGGATG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp2 HG02451.hp2 others(10): Show HG01891.hp2 HG02055.hp2 HG02451.hp2 HG02723.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG03098.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 others(10): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0005g0031 a0001c0001t0005g0032 a0001c0001t0005g0033 a0001c0001t0005g0034 a0001c0001t0005g0281	13	376	0.0346	28	c.-11 others(45): Show c.-11+6000_-11+6027dupCATCCCTCCCTACTTTCCTTCTCCCCTT	GGACT	ENSG00000134864.11	transcript	ENST00000683975.1	protein_coding	2/2			chr13	TogoVar
GGCT_chr7_30491621_30509829	30496315	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	444	0.0023	28	c.77 others(37): Show c.776_*777insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	GGCT	ENSG00000006625.18	transcript	ENST00000275428.9	protein_coding		305		chr7	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	357	0.0028	28	c.642 others(45): Show c.642-2334_642-2333insATATATATATATATATATATTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0245 a0001c0001t0002g0245	1	357	0.0028	28	c.642 others(45): Show c.642-2334_642-2333insATATATATATATATTTTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGNBP2_chr17_36539919_36594848	36575648	A A	ATATATAT others(21): Show ATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0239 a0001c0001t0002g0239	1	357	0.0028	28	c.642 others(45): Show c.642-2334_642-2333insATATATATATATTTTTTTTTTTTTTTTT	GGNBP2	ENSG00000278311.5	transcript	ENST00000613102.5	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGCGCGCGCGCGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	392	0.0026	28	c.36 others(39): Show c.3688_*3689insGCGCGCACGCGCGCGCGCACACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGN_chr19_38379267_38393034	38380723	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGCGCGCGCGTGCGCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0004 a0002c0003t0001g0004	1	392	0.0026	28	c.36 others(39): Show c.3688_*3689insGCGCGCACGCGCGCGCACACACACACAC	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding		3543		chr19	TogoVar
GGT1_chr22_24598193_24633996	24605554	T T	TTATATAA others(21): Show TTATATAATATTATATAATGTGTATTATA	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04228.hp2 HG04204.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0197 a0001c0001t0001g0176 a0001c0001t0001g0197	2	426	0.0047	28	c.-42 others(47): Show c.-429+2115_-429+2142dupATAATATTATATAATGTGTATTATAT AT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT1_chr22_24598193_24633996	24605642	A A	ATAATATT others(21): Show ATAATATTATATAATGTGTATTATATATT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03492.hp2 HG03834.hp2 others(1): Show HG02738.hp2 HG03492.hp2 HG03834.hp2 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0012 a0001c0001 a0001c0006 a0002c0012	a0001c0001t0002 a0001c0006t0001 a0002c0012t0001 a0001c0001t0002 a0001c0006t0001 a0002c0012t0001	a0001c0001t0002g0227 a0001c0006t0001g0172 a0001c0006t0001g0239 others(1): Show a0001c0001t0002g0227 a0001c0006t0001g0172 a0001c0006t0001g0239 a0002c0012t0001g0186	4	426	0.0094	28	c.-42 others(47): Show c.-429+2172_-429+2199dupTAATATTATATAATGTGTATTATATA TT	GGT1	ENSG00000100031.19	transcript	ENST00000400382.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr22	TogoVar
GGT7_chr20_34839720_34877856	34855814	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	354	0.0028	28	c.110 others(45): Show c.1103-892_1103-891insTCACACACACACACACACACACACACAC	GGT7	ENSG00000131067.17	transcript	ENST00000336431.10	protein_coding	8/14			chr20	TogoVar
GHRHR_chr7_30958953_30984528	30968640	C C	CCCTCCCT others(21): Show CCCTCCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03195.hp2 HG02896.hp2 HG02897.hp1 HG03195.hp2	a0004 a0004	a0004c0005 a0004c0011 a0004c0005 a0004c0011	a0004c0005t0001 a0004c0011t0001 a0004c0005t0001 a0004c0011t0001	a0004c0005t0001g0106 a0004c0011t0001g0038 a0004c0005t0001g0106 a0004c0011t0001g0038	3	422	0.0071	28	c.58- others(41): Show c.58-191_58-190insCCCTTCCTTCCTTCCTTCCTTCCTTCCT	GHRHR	ENSG00000106128.19	transcript	ENST00000326139.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
GHR_chr5_42418439_42726878	42419265	T T	TATATATA others(21): Show TATATATATATATATGTCATATTCATGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0033 a0003c0005t0007g0033	1	210	0.0048	28	c.-47 others(39): Show c.-4702_-4701insATATATATATATATGTCATATTCATGAG	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding		4173		chr5	TogoVar
GHR_chr5_42418439_42726878	42474295	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02523.hp2 HG02630.hp1 others(4): Show HG00673.hp2 HG02523.hp2 HG02630.hp1 HG02818.hp1 HG02922.hp2 NA19006.hp1 NA20129.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 others(1): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005	a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0003c0003t0003 a0003c0003t0026 a0003c0005t0002 a0003c0005t0004	a0001c0001t0002g0021 a0001c0001t0004g0129 a0002c0002t0001g0092 others(4): Show a0001c0001t0002g0021 a0001c0001t0004g0129 a0002c0002t0001g0092 a0003c0003t0003g0179 a0003c0003t0026g0196 a0003c0005t0002g0095 a0003c0005t0004g0043	7	210	0.0333	28	c.-12 others(47): Show c.-12+50358_-12+50385dupGAAAGAAAGAAAGAAAGAAAGAAAGA AA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564080	T T	TATTTATT others(21): Show TATTTATTTGAAATCTCACAAAGTGTGAG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02258.hp2 HG02630.hp1 others(4): Show HG01192.hp1 HG02258.hp2 HG02630.hp1 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0005 a0001c0001 a0002c0002 a0003c0005	a0001c0001t0004 a0001c0001t0014 a0002c0002t0001 others(1): Show a0001c0001t0004 a0001c0001t0014 a0002c0002t0001 a0003c0005t0002	a0001c0001t0004g0129 a0001c0001t0004g0171 a0001c0001t0014g0087 others(4): Show a0001c0001t0004g0129 a0001c0001t0004g0171 a0001c0001t0014g0087 a0002c0002t0001g0088 a0002c0002t0001g0166 a0002c0002t0001g0168 a0003c0005t0002g0169	7	210	0.0333	28	c.-11 others(45): Show c.-11-1707_-11-1680dupAGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564185	T T	TGTGTGAG others(21): Show TGTGTGAGATTTATTTGAAATCTCACAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0113 a0002c0002t0001g0113	1	210	0.0048	28	c.-11 others(45): Show c.-11-1567_-11-1540dupAGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564213	A A	AGTGTGAG others(21): Show AGTGTGAGATTTATTTGAAATCTCACAAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	1	210	0.0048	28	c.-11 others(45): Show c.-11-1624_-11-1623insTGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564297	A A	AGTGTGAG others(21): Show AGTGTGAGATTTATTTGAAATCTCACAAT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03225.hp2 HG03579.hp2 HG02630.hp1 HG03225.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0001c0001t0004 a0002c0002t0001	a0001c0001t0004g0129 a0001c0001t0004g0171 a0002c0002t0001g0088 a0001c0001t0004g0129 a0001c0001t0004g0171 a0002c0002t0001g0088	3	210	0.0143	28	c.-11 others(45): Show c.-11-1511_-11-1484dupTGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42564325	T T	TGTGTGAG others(21): Show TGTGTGAGATTTATTTGAAATCTCACAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02145.hp1 HG02486.hp1 HG01261.hp2 HG02145.hp1 HG02486.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0006 a0002c0002 a0003c0006	a0002c0002t0006 a0003c0006t0009 a0002c0002t0006 a0003c0006t0009	a0002c0002t0006g0047 a0002c0002t0006g0049 a0003c0006t0009g0048 a0002c0002t0006g0047 a0002c0002t0006g0049 a0003c0006t0009g0048	3	210	0.0143	28	c.-11 others(45): Show c.-11-1512_-11-1511insAGTGTGAGATTTATTTGAAATCTCACAA	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GHR_chr5_42418439_42726878	42650578	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0180 a0001c0001t0004g0180	1	210	0.0048	28	c.136 others(47): Show c.136+21499_136+21500insATATATATATATATATATATATATAT AT	GHR	ENSG00000112964.14	transcript	ENST00000230882.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GIGYF2_chr2_232692331_232865605	232711705	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01257.hp2 NA18943.hp1 HG00741.hp1 HG01257.hp2 NA18943.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0004 a0002c0001t0002 a0002c0001t0004	a0002c0001t0002g0052 a0002c0001t0002g0071 a0002c0001t0004g0087 a0002c0001t0002g0052 a0002c0001t0002g0071 a0002c0001t0004g0087	3	376	0.0080	28	c.-44 others(45): Show c.-44+8238_-44+8239insTATATATATATATATATATATATATATA	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	2/28		INFO_REALIGN_3_PRIME	chr2	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATACACA others(21): Show TATACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0178 a0002c0002t0002g0178	1	322	0.0031	28	c.-8+ others(43): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTGTAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GIN1_chr5_103081000_103125138	103117581	T T	TATATACA others(21): Show TATATACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01106.hp1 HG02602.hp2 others(3): Show HG00609.hp1 HG01106.hp1 HG02602.hp2 NA18981.hp1 NA19004.hp2 NA19086.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0169 others(1): Show a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0169 a0002c0002t0002g0170	6	322	0.0186	28	c.-8+ others(43): Show c.-8+2482_-8+2483insGTGTGTGTGTGTGTGTGTGTGTGTATAT	GIN1	ENSG00000145723.17	transcript	ENST00000399004.7	protein_coding	1/7			chr5	TogoVar
GINS2_chr16_85671198_85693954	85685670	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG03710.hp1 HG03942.hp2 others(3): Show HG02040.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp2 NA18940.hp1 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0001t0010 a0001c0003t0010 a0001c0001t0004 a0001c0001t0010 a0001c0003t0010	a0001c0001t0004g0029 a0001c0001t0004g0266 a0001c0001t0004g0282 others(2): Show a0001c0001t0004g0029 a0001c0001t0004g0266 a0001c0001t0004g0282 a0001c0001t0010g0029 a0001c0003t0010g0070	6	470	0.0128	28	c.205 others(45): Show c.205+1789_205+1790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GINS2_chr16_85671198_85693954	85685685	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	470	0.0021	28	c.205 others(45): Show c.205+1774_205+1775insGTTTTTTTTTTTTTTTTTTTTTTTTTTT	GINS2	ENSG00000131153.9	transcript	ENST00000253462.8	protein_coding	2/4			chr16	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATAGA others(21): Show TATATAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp2 HG01257.hp1 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0013 a0001c0002t0002g0013	2	444	0.0045	28	c.-30 others(45): Show c.-30-2697_-30-2696insCTCTCTCTCTCTCTCTCTCTCTCTATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC1_chr19_14472762_14501127	14485702	T T	TATATATA others(21): Show TATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0073 a0001c0003t0002g0073	1	444	0.0023	28	c.-30 others(45): Show c.-30-2697_-30-2696insCTCTCTCTATATATATATATATATATAT	GIPC1	ENSG00000123159.16	transcript	ENST00000393033.9	protein_coding	3/8			chr19	TogoVar
GIPC3_chr19_3580478_3598541	3580859	G G	GATAATCT others(21): Show GATAATCTTCAATCTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	430	0.0023	28	c.-47 others(39): Show c.-4739_-4738insATAATCTTCAATCTTTTTTTTTTTTTTT	GIPC3	ENSG00000179855.9	transcript	ENST00000644452.3	protein_coding		4618		chr19	TogoVar
GJA8_chr1_147897795_147914269	147899925	G G	GAGAAAGA others(21): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	472	0.0021	28	c.-29 others(39): Show c.-2948_-2947insAGAAAGAAAGAAAGAAAGAAAGAAAGGA	GJA8	ENSG00000121634.6	transcript	ENST00000369235.2	protein_coding		2869		chr1	TogoVar
GJA9_chr1_38869069_38886587	38869639	T T	TACGCGCT others(21): Show TACGCGCTCCAGAATTCTAAAGATGCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0130 a0002c0002t0001g0130	1	444	0.0023	28	c.49 others(39): Show c.4911_*4912insGAAGCATCTTTAGAATTCTGGAGCGCGT	GJA9	ENSG00000131233.10	transcript	ENST00000357771.5	protein_coding		4429		chr1	TogoVar
GJB6_chr13_20216962_20237319	20218592	C C	CTTTCTTT others(21): Show CTTTCTTTCTTTCCTTCTTTCCTTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	460	0.0022	28	c.41 others(39): Show c.4102_*4103insAGAGGAAGGAAAGAAGGAAAGAAAGAAA	GJB6	ENSG00000121742.19	transcript	ENST00000647029.1	protein_coding		3369		chr13	TogoVar
GK5_chr3_142152527_142230585	142159851	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0153 a0001c0001t0033g0153	1	272	0.0037	28	c.57 others(39): Show c.5770_*5771insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GK5	ENSG00000175066.16	transcript	ENST00000392993.7	protein_coding	16/16	5770		chr3	TogoVar
GKAP1_chr9_83734425_83822769	83779466	C C	CACACACA others(21): Show CACACACACACACACACACACGCACATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA19083.hp2 HG01975.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0185 a0001c0001t0003g0162 a0001c0001t0003g0185	2	336	0.0060	28	c.585 others(43): Show c.585+915_585+916insATATGTGCGTGTGTGTGTGTGTGTGTGT	GKAP1	ENSG00000165113.13	transcript	ENST00000376371.7	protein_coding	7/12			chr9	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(21): Show GGAAGGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	464	0.0043	28	c.204 others(43): Show c.204+500_204+501insGGAAAGAAAGAAAGAAAGAAAGAAAGAA	GKN1	ENSG00000169605.7	transcript	ENST00000377938.4	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
GKN1_chr2_68969636_68985976	68978271	G G	GGAAGGAA others(21): Show GGAAGGAAGGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	464	0.0022	28	c.204 others(43): Show c.204+500_204+501insGGAAGGAAAGAAAGAAAGAAAGAAAGAA	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(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03195.hp1 HG02976.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0023 a0001c0001t0005 a0001c0001t0023	a0001c0001t0005g0203 a0001c0001t0023g0173 a0001c0001t0005g0203 a0001c0001t0023g0173	2	286	0.0070	28	c.851 others(45): Show c.851+3244_851+3245insATATATATATATATATATATATATATAT	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(21): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG01346.hp2 others(7): Show HG00558.hp2 HG00735.hp2 HG01346.hp2 HG01981.hp1 HG02004.hp2 HG02129.hp1 NA19011.hp2 NA19043.hp1 NA19058.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0049 a0001c0001t0002g0050 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054	10	318	0.0315	28	c.194 others(43): Show c.194+248_194+249insTCTCTCTCTCTCTCTCTCTCTCTCTCTC	GLA	ENSG00000102393.15	transcript	ENST00000218516.4	protein_coding	1/6			chrX	TogoVar
GLB1_chr3_32991617_33102146	33002347	C C	CCCTCCCT others(21): Show CCCTCCCTCCCTTCCTTCCTTCCTTCCAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	394	0.0025	28	c.173 others(47): Show c.1735-5004_1735-5003insATGGAAGGAAGGAAGGAAGGGAGGGA GG	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	15/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33031640	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	394	0.0025	28	c.106 others(47): Show c.1069-7316_1069-7315insATATATATATATATATATATATTTTT TT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	10/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074365	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	394	0.0025	28	c.76- others(43): Show c.76-1653_76-1652insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074369	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03209.hp2 HG03130.hp1 HG03209.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0174 a0003c0004t0001g0164 a0001c0001t0001g0174 a0003c0004t0001g0164	2	394	0.0051	28	c.76- others(43): Show c.76-1657_76-1656insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074373	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG06807.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0154 a0001c0001t0001g0178 a0001c0001t0001g0154 a0001c0001t0001g0178	2	394	0.0051	28	c.76- others(43): Show c.76-1661_76-1660insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar
GLB1_chr3_32991617_33102146	33074381	G G	GAAGAAAG others(21): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	394	0.0025	28	c.76- others(43): Show c.76-1669_76-1668insTCTTTCTTTCTTTCTTTCTTTCTTTCTT	GLB1	ENSG00000170266.16	transcript	ENST00000307363.10	protein_coding	1/15			chr3	TogoVar

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