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
EBF3_chr10_129830233_129969274	129946471	AAATAACA others(69): Show AAATAACATTTTTCCTTAAAGTTAAATGTCTCATAAGCCTCGCTTTATTC ACAATCACGTATGAAAGAAGTATTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	338	0.0030	-76	c.554 others(95): Show c.554+10711_554+10786delAAAAATACTTCTTTCATACGTGATTG TGAATAAAGCGAGGCTTATGAGACATTTAACTTTAAGGAAAAATGTTATT	EBF3	ENSG00000108001.16	transcript	ENST00000440978.2	protein_coding	6/16			chr10	TogoVar
EFCAB6_chr22_43523778_43817305	43784548	TGTATATA others(69): Show TGTATATATACACATATATATGTGTACATATACACATATATATGTATATA TACACATATATATGTGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0108 a0005c0004t0001g0108	1	290	0.0035	-76	c.-7- others(91): Show c.-7-2299_-7-2224delGTGTATATATACACATATATATGTGTATAT ATACATATATATGTGTATATGTACACATATATATGTGTATATATAC	EFCAB6	ENSG00000186976.15	transcript	ENST00000262726.12	protein_coding	2/31			chr22	TogoVar
EHBP1_chr2_62700713_63051487	62728804	GTTGTGCC others(69): Show GTTGTGCCTTCTTAGACTTTGCCTAACCCAAAGTCACAAAGATTTACTAC TTCTATTTTTTATAAGAGTTTTATAAT	G G	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	198	0.0051	-76	c.105 others(95): Show c.105-18588_105-18513delGTGCCTTCTTAGACTTTGCCTAACCC AAAGTCACAAAGATTTACTACTTCTATTTTTTATAAGAGTTTTATAATTT	EHBP1	ENSG00000115504.15	transcript	ENST00000431489.6	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EHMT1_chr9_137614005_137841127	137819427	GAGGGGCG others(69): Show GAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACCGTAGAGAGGCCGACTT	G G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG03017.hp2 HG02523.hp1 HG03017.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0119 a0006c0012t0001g0160 a0001c0001t0001g0119 a0006c0012t0001g0160	2	170	0.0118	-76	c.354 others(95): Show c.3540+1299_3540+1374delATGTACCGAGACCGTAGAGAGGCCGA CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGCGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819437	ATGTACCG others(69): Show ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTTAGGGGCGCCG	A A	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG03579.hp2 HG02523.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0093 a0001c0004t0001g0153 a0001c0001t0001g0093 a0001c0004t0001g0153	2	170	0.0118	-76	c.354 others(95): Show c.3540+1365_3540+1440delTAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819539	CTGAGGGG others(69): Show CTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGAT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	170	0.0059	-76	c.354 others(95): Show c.3540+1425_3540+1500delCGTAGAGAGGCCGACTGAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIF4A3_chr17_80129369_80152128	80146992	CGCCGCTG others(69): Show CGCCGCTGCCGACCTCGCTGCCGCTGCCGACCTCGCTGTGCCGCTGCCGA CCTCGCTGCCGCTGCCGACCTCGCTGT	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0204 a0001c0001t0067g0204	1	420	0.0024	-76	c.-10 others(84): Show c.-107_-32delACAGCGAGGTCGGCAGCGGCAGCGAGGTCGGCAGCGG CACAGCGAGGTCGGCAGCGGCAGCGAGGTCGGCAGCGGC	EIF4A3	ENSG00000141543.12	transcript	ENST00000649764.2	protein_coding	1/12	32		chr17	TogoVar
EIF4H_chr7_74169356_74202096	74198132	ACTTAACA others(69): Show ACTTAACAGAGATTAAGTCTAGAACAAGAAGAGCTGATTAACCTAGAACA CGGGTTGACCTTGCCTTTAGGGTGGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	374	0.0027	-76	c.28 others(87): Show c.2825_*2900delCTTAACAGAGATTAAGTCTAGAACAAGAAGAGCT GATTAACCTAGAACACGGGTTGACCTTGCCTTTAGGGTGGTG	EIF4H	ENSG00000106682.16	transcript	ENST00000265753.13	protein_coding		1037		chr7	TogoVar
EIPR1_chr2_3183970_3382818	3240625	GCCAGCAG others(69): Show GCCAGCAGATCCCTCCTAAAGAAAAGCCAGCAGATCCTTCCTCAAGAACA GTGAGCAGGTCCCTCCTAAAGCAAAGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	250	0.0040	-76	c.416 others(95): Show c.416+16598_416+16673delGCTTTGCTTTAGGAGGGACCTGCTCA CTGTTCTTGAGGAAGGATCTGCTGGCTTTTCTTTAGGAGGGATCTGCTGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3285808	GACTGTCT others(69): Show GACTGTCTCCGGGACCCTCGCACGGAGCAGAAGTCACCGACTGTCTCCGG GACCCTCGCACGGAGCAGAAGTCACCA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03516.hp2 HG02886.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0101 a0001c0001t0001g0105	2	250	0.0080	-76	c.260 others(95): Show c.260-28429_260-28354delTGGTGACTTCTGCTCCGTGCGAGGGT CCCGGAGACAGTCGGTGACTTCTGCTCCGTGCGAGGGTCCCGGAGACAGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELF1_chr13_40926924_41024316	41023282	AGTACAAA others(69): Show AGTACAAAAATACAGAATACTCTAATTTCCATATCTAGGAAACTTAGGCT AAAAAAAGCTTTGTTTGAATCCGCCCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0261 a0001c0003t0001g0261	1	362	0.0028	-76	c.-43 others(87): Show c.-4359_-4284delGGGGCGGATTCAAACAAAGCTTTTTTTAGCCTAA GTTTCCTAGATATGGAAATTAGAGTATTCTGTATTTTTGTAC	ELF1	ENSG00000120690.16	transcript	ENST00000239882.7	protein_coding		3967		chr13	TogoVar
ENOSF1_chr18_665318_717630	667417	GTGATGGT others(69): Show GTGATGGTGATGGAGATGGTGATGGTGATGGTGATGGTGATGATGGAGAT GGTGATGGTGATGGTGATGGTGATGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02055.hp2 HG01192.hp2 HG02055.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0014 a0002c0002t0009 a0001c0001t0014 a0002c0002t0009	a0001c0001t0014g0300 a0002c0002t0009g0026 a0001c0001t0014g0300 a0002c0002t0009g0026	2	418	0.0048	-76	c.68 others(87): Show c.6812_*6887delACCATCACCATCACCATCACCATCACCATCTCCA TCATCACCATCACCATCACCATCACCATCTCCATCACCATCA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2900		chr18	TogoVar
ERICH1_chr8_659200_736224	669045	CTCTGTCT others(69): Show CTCTGTCTGGTGAGACGCCTCCCCTGGCCCGTCTACACCTCTGTCTGGTG AGACGCCTCCCCTGGCCCGTCTACACG	C C	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	378	0.0027	-76	c.106 others(93): Show c.1064-329_1064-254delCGTGTAGACGGGCCAGGGGAGGCGTCTC ACCAGACAGAGGTGTAGACGGGCCAGGGGAGGCGTCTCACCAGACAGA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	4/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98073440	ATATATAT others(69): Show ATATATATATATATATATATGTATATATATATATATATATATATATGTAT ATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02886.hp1 HG02896.hp1 HG01070.hp1 HG02886.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0096 a0001c0001t0001g0434 a0001c0001t0005g0435 a0001c0001t0001g0096 a0001c0001t0001g0434 a0001c0001t0005g0435	3	442	0.0068	-76	c.58+ others(91): Show c.58+8733_58+8808delGTATATATATATATATATATATATATGTAT ATATATATATATATATATATATATATGTATATATATATATATATAT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ETNPPL_chr4_108737053_108768053	108747148	AATATATA others(69): Show AATATATATATATATATTATATATATATATATAATATATATATATATTAT ATATATATATAATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp2 HG02717.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0298 a0001c0001t0001g0046 a0001c0001t0001g0298	2	378	0.0053	-76	c.108 others(93): Show c.1083-373_1083-298delATATATATATATATATTATATATATATA TAATATATATATATATTATATATATATATATAATATATATATATATAT	ETNPPL	ENSG00000164089.9	transcript	ENST00000296486.8	protein_coding	9/12			chr4	TogoVar
EXOC6B_chr2_72170984_72831033	72401506	TATATATA others(69): Show TATATATATACATATATACATATATATATATATATATATGTGTATATATA TATATATATACATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0065 a0001c0002t0002g0065	1	104	0.0096	-76	c.198 others(97): Show c.1981-21712_1981-21637delGTATATATATATATATGTATATAT ATATATATATACACATATATATATATATATATATGTATATATGTATATAT AT	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	18/21			chr2	TogoVar
EXOC6B_chr2_72170984_72831033	72512351	GGAAGGAA others(69): Show GGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03486.hp1 HG03098.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0022 a0001c0002t0001g0020 a0001c0002t0001g0022	2	104	0.0192	-76	c.116 others(93): Show c.1167+705_1167+780delTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTC	EXOC6B	ENSG00000144036.16	transcript	ENST00000272427.11	protein_coding	11/21			chr2	TogoVar
EZR_chr6_158760748_158824368	158803578	TATACATA others(69): Show TATACATATATATATATATATATATATACATATATATATATATATATACA TATACATACATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03130.hp1 HG03471.hp2 others(2): Show HG00673.hp2 HG03130.hp1 HG03471.hp2 HG03704.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0267 others(2): Show a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0267 a0001c0001t0002g0288 a0001c0001t0004g0284	5	312	0.0160	-76	c.13- others(93): Show c.13-14283_13-14208delGTATATATATATATATATGTATGTATAT GTATATATATATATATATATGTATATATATATATATATATATATGTAT	EZR	ENSG00000092820.19	transcript	ENST00000367075.4	protein_coding	2/13			chr6	TogoVar
FAF2_chr5_176443385_176515074	176449713	TATTGATA others(69): Show TATTGATACACTTATTTCCTTATATAAAATGTGTAAATATTCATTTATTC AACTATATGAAGAACCTTAGTGCGCAG	T T	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	372	0.0027	-76	c.63+ others(91): Show c.63+1244_63+1319delATTGATACACTTATTTCCTTATATAAAATG TGTAAATATTCATTTATTCAACTATATGAAGAACCTTAGTGCGCAG	FAF2	ENSG00000113194.13	transcript	ENST00000261942.7	protein_coding	1/10			chr5	TogoVar
FAM151A_chr1_54604181_54628525	54623558	CCTGAAGC others(69): Show CCTGAAGCCCCTCCTCCCTCCCCGCCCCAATCCTCTTCCCCACACCCTCC CAGGATCTTAACAGGCTAACCAGAATA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	448	0.0022	-76	c.-23 others(85): Show c.-239_-164delTATTCTGGTTAGCCTGTTAAGATCCTGGGAGGGTGT GGGGAAGAGGATTGGGGCGGGGAGGGAGGAGGGGCTTCAG	FAM151A	ENSG00000162391.12	transcript	ENST00000302250.7	protein_coding		34		chr1	TogoVar
FAM90A22_chr8_7566995_7580006	7579930	AGGCAAGG others(69): Show AGGCAAGGTCTGCTGTGCGGAGGCTGCCGGTCGACGCTGGGCACCTGGGC CGGTGTCCTCCTGCCCATCTGGGGCGA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 NA18961.hp2 NA18974.hp1 HG01168.hp1 NA18961.hp2 NA18974.hp1	a0012 a0031 a0012 a0031	a0012c0015 a0031c0019 a0012c0015 a0031c0019	a0012c0015t0001 a0031c0019t0001 a0012c0015t0001 a0031c0019t0001	a0012c0015t0001g0006 a0031c0019t0001g0018 a0012c0015t0001g0006 a0031c0019t0001g0018	3	88	0.0341	-76	c.-50 others(87): Show c.-5000_-4925delTCGCCCCAGATGGGCAGGAGGACACCGGCCCAGG TGCCCAGCGTCGACCGGCAGCCTCCGCACAGCAGACCTTGCC	FAM90A22	ENSG00000285687.1	transcript	ENST00000648590.1	protein_coding		4925		chr8	TogoVar
FAM90A7_chr8_7551700_7564712	7564636	AGGCAAGG others(69): Show AGGCAAGGTGTGCTGTGCGGAGGCTGCCGGTCGACGCTGGGCACCTGGGC CGGTGTCCTCCTGCCCATCTGGGGCGA	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 NA18998.hp1 NA18998.hp2 HG03486.hp2 NA18998.hp1 NA18998.hp2	a0007 a0010 a0011 a0007 a0010 a0011	a0007c0002 a0010c0003 a0011c0004 a0007c0002 a0010c0003 a0011c0004	a0007c0002t0001 a0010c0003t0001 a0011c0004t0001 a0007c0002t0001 a0010c0003t0001 a0011c0004t0001	a0007c0002t0001g0003 a0010c0003t0001g0012 a0011c0004t0001g0002 a0007c0002t0001g0003 a0010c0003t0001g0012 a0011c0004t0001g0002	3	18	0.1667	-76	c.-50 others(87): Show c.-5000_-4925delTCGCCCCAGATGGGCAGGAGGACACCGGCCCAGG TGCCCAGCGTCGACCGGCAGCCTCCGCACAGCACACCTTGCC	FAM90A7	ENSG00000285975.1	transcript	ENST00000650288.1	protein_coding		4925		chr8	TogoVar
FANCA_chr16_89732549_89821647	89745503	GAAACAGT others(69): Show GAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAG GGACCACACTCCTCTGAGCTGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0262 a0003c0003t0002g0262	1	334	0.0030	-76	c.351 others(93): Show c.3514-508_3514-433delTGTTCCCAGCTCAGAGGAGTGTGGTCCC TTCACTGTTTCGTTCCCAGCTCAGGGCAGTGTGGTCCCTTCACTGTTT	FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	35/42			chr16	TogoVar
FBLN7_chr2_112133385_112193218	112139853	CGCCAGTG others(69): Show CGCCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCTC TCCCCTGTCCCGCGCGCCTCTCTCCAT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	346	0.0029	-76	c.75+ others(91): Show c.75+1150_75+1225delGGCCAGTGTCCCTCCCGCCTCTCTCCCCTG TCCCGCGCGCCTCTCTCCATGCCAGTGTCCCTCCCGCCTCTCTCCA	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FBXO21_chr12_117136991_117195470	117182529	AATCCCAG others(69): Show AATCCCAGCACATTGGGAGGCCACAGCAAGAGGATCTTTTTTTTTTTTTT TTTTTTTTTGGACCGAGTCTGTCGCCC	A A	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0069 a0001c0002t0003g0069	1	402	0.0025	-76	c.470 others(93): Show c.470+3872_470+3947delGGGCGACAGACTCGGTCCAAAAAAAAAA AAAAAAAAAAAAAGATCCTCTTGCTGTGGCCTCCCAATGTGCTGGGAT	FBXO21	ENSG00000135108.16	transcript	ENST00000622495.5	protein_coding	3/11			chr12	TogoVar
FLT4_chr5_180596506_180654600	180615527	TTCCTTTC others(69): Show TTCCTTTCGGAGCACTGGGCCCGCCGGTCACCTCCCTTCTCCACTTCCTT TCGGAGCACTGGGTCCCGCTGGTCACC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01256.hp1 HG02004.hp1 others(8): Show HG00741.hp2 HG01256.hp1 HG02004.hp1 HG02622.hp2 HG03710.hp2 NA18971.hp1 NA19004.hp2 NA19057.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0075 a0001c0001t0002g0066 a0001c0001t0002g0067 others(8): Show a0001c0001t0001g0075 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0116 a0001c0001t0002g0123 a0001c0001t0002g0199 a0001c0001t0002g0294 a0001c0001t0002g0300 a0001c0001t0002g0306 a0001c0001t0002g0316	11	388	0.0284	-76	c.321 others(93): Show c.3219+764_3219+839delGGTGACCAGCGGGACCCAGTGCTCCGAA AGGAAGTGGAGAAGGGAGGTGACCGGCGGGCCCAGTGCTCCGAAAGGA	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	23/29			chr5	TogoVar
FLT4_chr5_180596506_180654600	180635350	GAGGGTGG others(69): Show GAGGGTGGGTGGATGGATGGATGGATGGAAGTATGGGTGGATGGGAGGGT GGGTGGATGGATGGATGGATGGAAGTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp2 NA18944.hp2 NA18948.hp2 others(1): Show HG00673.hp2 NA18944.hp2 NA18948.hp2 NA19091.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0001c0001t0002 a0002c0003t0003	a0001c0001t0002g0107 a0002c0003t0003g0108 a0002c0003t0003g0134 others(1): Show a0001c0001t0002g0107 a0002c0003t0003g0108 a0002c0003t0003g0134 a0002c0003t0003g0141	4	388	0.0103	-76	c.59- others(91): Show c.59-3648_59-3573delTACTTCCATCCATCCATCCATCCACCCACC CTCCCATCCACCCATACTTCCATCCATCCATCCATCCACCCACCCT	FLT4	ENSG00000037280.16	transcript	ENST00000261937.11	protein_coding	1/29			chr5	TogoVar
FLYWCH1_chr16_2906931_2956208	2921276	CTTTTTAA others(69): Show CTTTTTAAGTCTACAATTCATTGCTTTTAATATATTCAGAAAGCTGTCCA AGTATCACCACCATCAATTTTAGGACT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG02615.hp2 HG02895.hp1	a0004 a0004	a0004c0020 a0004c0048 a0004c0020 a0004c0048	a0004c0020t0023 a0004c0048t0021 a0004c0020t0023 a0004c0048t0021	a0004c0020t0023g0220 a0004c0048t0021g0028 a0004c0020t0023g0220 a0004c0048t0021g0028	2	416	0.0048	-76	c.-74 others(93): Show c.-74+6993_-74+7068delAAGTCTACAATTCATTGCTTTTAATATA TTCAGAAAGCTGTCCAAGTATCACCACCATCAATTTTAGGACTTTTTT	FLYWCH1	ENSG00000059122.17	transcript	ENST00000253928.14	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
FMN1_chr15_32760544_33199714	32949960	TATATACA others(69): Show TATATACACACATATATATACACACACATATATATACACATACACATATA TATATACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02809.hp1 others(1): Show HG01070.hp2 HG01071.hp2 HG02809.hp1 HG03654.hp2	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0002 a0003c0004 a0014c0032 a0001c0002 a0003c0004 a0014c0032	a0001c0002t0021 a0003c0004t0042 a0014c0032t0004 a0001c0002t0021 a0003c0004t0042 a0014c0032t0004	a0001c0002t0021g0186 a0003c0004t0042g0090 a0014c0032t0004g0104 others(1): Show a0001c0002t0021g0186 a0003c0004t0042g0090 a0014c0032t0004g0104 a0014c0032t0004g0105	4	196	0.0204	-76	c.313 others(97): Show c.3138+14071_3138+14146delGTGTATATATATATATATGTGTAT ATATATATGTGTATGTGTATATATATGTGTGTGTATATATATGTGTGTAT AT	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	9/20			chr15	TogoVar
FOXJ3_chr1_42171548_42340235	42178066	AATCAGTC others(69): Show AATCAGTCCATGCAAACTGTGATATGATATGAAACAAAACAAACCACCAC CACTAAAAAACCCGTAAGAGGGGCTGC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0141 a0001c0001t0020g0141	1	332	0.0030	-76	c.15 others(87): Show c.1568_*1643delGCAGCCCCTCTTACGGGTTTTTTAGTGGTGGTGG TTTGTTTTGTTTCATATCATATCACAGTTTGCATGGACTGAT	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	13/13	1568		chr1	TogoVar
FRK_chr6_115926149_116065891	115958634	GGAAAGAA others(69): Show GGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG02074.hp1 HG02080.hp1 others(13): Show HG01515.hp1 HG02074.hp1 HG02080.hp1 HG02602.hp1 HG02809.hp1 HG02897.hp1 HG02965.hp2 HG03453.hp1 HG03831.hp2 NA18906.hp1 NA18940.hp2 NA18953.hp2 NA18959.hp2 NA18974.hp1 NA18993.hp2 NA19074.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0002 others(1): Show a0001c0001 a0001c0004 a0002c0002 a0004c0005	a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 others(9): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0024 a0001c0001t0026 a0001c0001t0035 a0001c0001t0068 a0001c0004t0001 a0002c0002t0001 a0002c0002t0002 a0004c0005t0002	a0001c0001t0001g0188 a0001c0001t0006g0225 a0001c0001t0009g0140 others(13): Show a0001c0001t0001g0188 a0001c0001t0006g0225 a0001c0001t0009g0140 a0001c0001t0010g0200 a0001c0001t0024g0006 a0001c0001t0026g0270 a0001c0001t0035g0004 a0001c0001t0068g0208 a0001c0004t0001g0109 a0002c0002t0001g0031 a0002c0002t0001g0034 a0002c0002t0001g0173 a0002c0002t0002g0036 a0002c0002t0002g0090 a0002c0002t0002g0168 a0004c0005t0002g0094	16	274	0.0584	-76	c.800 others(93): Show c.800-2100_800-2025delTTTCTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTC	FRK	ENSG00000111816.8	transcript	ENST00000606080.2	protein_coding	4/7			chr6	TogoVar
FRMD4B_chr3_69163782_69391088	69314151	AAAAAAAA others(69): Show AAAAAAAAAAAAAAAAAAAAAAAGCCTCTCCATCCCAGAGGAAACTACTA TATTTTTCCTGGAATTAATGTTTTATT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0005 a0002c0013t0005	a0002c0013t0005g0069 a0002c0013t0005g0069	1	224	0.0045	-76	c.163 others(91): Show c.163-710_163-635delAATAAAACATTAATTCCAGGAAAAATATAG TAGTTTCCTCTGGGATGGAGAGGCTTTTTTTTTTTTTTTTTTTTTT	FRMD4B	ENSG00000114541.15	transcript	ENST00000398540.8	protein_coding	1/22			chr3	TogoVar
FRYL_chr4_48492357_48785279	48656464	CATATAAT others(69): Show CATATAATGTATATAGTAATGTATACATATATGCATTATATATAATGTAT ATAGTAATGTATACATATATGCATTAT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02145.hp1 HG02258.hp2 others(15): Show HG00408.hp1 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02735.hp2 HG02922.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03453.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0019	a0001c0002 a0002c0004 a0002c0026 others(3): Show a0001c0002 a0002c0004 a0002c0026 a0004c0007 a0005c0008 a0019c0027	a0001c0002t0001 a0002c0004t0001 a0002c0004t0009 others(4): Show a0001c0002t0001 a0002c0004t0001 a0002c0004t0009 a0002c0026t0012 a0004c0007t0001 a0005c0008t0001 a0019c0027t0001	a0001c0002t0001g0064 a0002c0004t0001g0208 a0002c0004t0001g0209 others(15): Show a0001c0002t0001g0064 a0002c0004t0001g0208 a0002c0004t0001g0209 a0002c0004t0001g0211 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0242 a0002c0004t0001g0244 a0002c0004t0001g0245 a0002c0004t0009g0212 a0002c0026t0012g0207 a0004c0007t0001g0003 a0004c0007t0001g0230 a0004c0007t0001g0231 a0005c0008t0001g0094 a0019c0027t0001g0210	18	282	0.0638	-76	c.-80 others(95): Show c.-80-22050_-80-21975delATAATGCATATATGTATACATTACTA TATACATTATATATAATGCATATATGTATACATTACTATATACATTATAT	FRYL	ENSG00000075539.15	transcript	ENST00000358350.9	protein_coding	3/63			chr4	TogoVar
FST_chr5_53475629_53492134	53488431	CGTAACTT others(69): Show CGTAACTTCTCCGGTGTAGATTAGCTACTGGCTTGCCACTAGAGAGAGGC TCTCGGGAAAGGAAACGGGCAGATATG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG00609.hp2 others(34): Show HG00438.hp1 HG00597.hp2 HG00609.hp2 HG01261.hp2 HG01943.hp2 HG02015.hp1 HG02083.hp2 HG02129.hp2 HG02257.hp1 HG02683.hp2 HG02735.hp2 HG03491.hp2 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18943.hp2 NA18952.hp1 NA18957.hp2 NA18968.hp2 NA18972.hp1 NA18975.hp1 NA18990.hp1 NA19000.hp1 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0012 a0001c0001t0001 a0001c0001t0002 a0001c0001t0012	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 others(9): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0002g0006 a0001c0001t0002g0033 a0001c0001t0012g0006	37	462	0.0801	-76	c.23 others(87): Show c.2399_*2474delGTAACTTCTCCGGTGTAGATTAGCTACTGGCTTG CCACTAGAGAGAGGCTCTCGGGAAAGGAAACGGGCAGATATG	FST	ENSG00000134363.12	transcript	ENST00000256759.8	protein_coding		1298		chr5	TogoVar
FUT8_chr14_65407730_65749121	65611184	TACACACA others(69): Show TACACACACACACACGCGCGCGCGCGCGCGCGCGCGCGCGCACACACACA CACACACACACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	374	0.0027	-76	c.204 others(93): Show c.204-4779_204-4704delGCGCGCGCGCGCGCGCGCGCGCGCGCAC ACACACACACACACACACACACACACACACACACACACACACACACAC	FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr14	TogoVar
GAB4_chr22_16956936_17013222	17001890	AGCCTCGC others(69): Show AGCCTCGCAGTTTGATCTCAGACTGCTGTGCTAGCAGTGAGCGAGACTCC ATGGGCATGGGACCCCCCGAGCCAGGT	A A	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0080 a0002c0002t0001g0080	1	430	0.0023	-76	c.174 others(93): Show c.174+5975_174+6050delACCTGGCTCGGGGGGTCCCATGCCCATG GAGTCTCGCTCACTGCTAGCACAGCAGTCTGAGATCAAACTGCGAGGC	GAB4	ENSG00000215568.9	transcript	ENST00000400588.5	protein_coding	1/9			chr22	TogoVar
GALNT13_chr2_153866922_154458979	154110266	CAGAACTA others(69): Show CAGAACTAATAGGATATATATATATATATATATATATATATATATATATA TATATATATATATATATATATAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0016 a0001c0001t0015g0016	1	214	0.0047	-76	c.143 others(95): Show c.143-30067_143-29992delACTAATAGGATATATATATATATATA TATATATATATATATATATATATATATATATATATATATATAGAGAGAGA	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GAS6_chr13_113815549_113869076	113830665	CCCAGGCG others(69): Show CCCAGGCGACCTCGCCTCAGGCCACCTGCCCCGGGCCCCTCCTCCCCATG GCTCCATCCCCTGCAACACCACTCCCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp2 HG01099.hp1 others(20): Show HG00423.hp1 HG00609.hp2 HG01099.hp1 HG01361.hp2 HG01496.hp1 HG01978.hp1 HG02135.hp1 HG03017.hp1 HG03225.hp1 HG03579.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18990.hp1 NA18995.hp1 NA19058.hp1 NA19064.hp2 NA19074.hp2 NA19088.hp1 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0001c0003 a0001c0008 others(2): Show a0001c0002 a0001c0003 a0001c0008 a0001c0017 a0003c0009	a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 others(3): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0008t0001 a0001c0017t0001 a0003c0009t0001	a0001c0002t0001g0140 a0001c0003t0001g0005 a0001c0003t0001g0006 others(20): Show a0001c0002t0001g0140 a0001c0003t0001g0005 a0001c0003t0001g0006 a0001c0003t0001g0023 a0001c0003t0001g0028 a0001c0003t0001g0029 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0034 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0001g0037 a0001c0003t0001g0039 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0045 a0001c0003t0001g0047 a0001c0003t0001g0062 a0001c0003t0001g0123 a0001c0003t0005g0004 a0001c0008t0001g0079 a0001c0017t0001g0024 a0003c0009t0001g0124	23	143	0.1608	-76	c.114 others(95): Show c.1143+1558_1143+1633delAGGGAGTGGTGTTGCAGGGGATGGAG CCATGGGGAGGAGGGGCCCGGGGCAGGTGGCCTGAGGCGAGGTCGCCTGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113831721	AGAGCATG others(69): Show AGAGCATGAACTAAACGGGGCAGGGGTCCCCGTCCCCCGGAGCATGAACT AAACGGGGCAGGGGTCCCCGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02886.hp2 NA18747.hp1 others(2): Show HG01891.hp2 HG02886.hp2 NA18747.hp1 NA19064.hp1 NA20300.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0015 a0004c0014 a0001c0002 a0001c0015 a0004c0014	a0001c0002t0001 a0001c0015t0001 a0004c0014t0003 a0001c0002t0001 a0001c0015t0001 a0004c0014t0003	a0001c0002t0001g0038 a0001c0002t0001g0121 a0001c0002t0001g0135 others(2): Show a0001c0002t0001g0038 a0001c0002t0001g0121 a0001c0002t0001g0135 a0001c0015t0001g0008 a0004c0014t0003g0002	5	143	0.0350	-76	c.114 others(93): Show c.1143+502_1143+577delCGGGGGACGGGGACCCCTGCCCCGTTTA GTTCATGCTCCGGGGGACGGGGACCCCTGCCCCGTTTAGTTCATGCTC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	10/14			chr13	TogoVar
GBP5_chr1_89251189_89277860	89275307	GAGCTTTA others(69): Show GAGCTTTAGTTCCTAGACAAGGATTTGTGAGCAAGGGATATTTATTTTGA AGGTGCTCATAAGAAACGGGGTAGGAC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0022 a0006c0007t0022	a0006c0007t0022g0038 a0006c0007t0022g0038	1	432	0.0023	-76	c.-30 others(87): Show c.-3059_-2984delGTCCTACCCCGTTTCTTATGAGCACCTTCAAAAT AAATATCCCTTGCTCACAAATCCTTGTCTAGGAACTAAAGCT	GBP5	ENSG00000154451.15	transcript	ENST00000370459.8	protein_coding		2448		chr1	TogoVar
GCGR_chr17_81799150_81819008	81818737	CATAGTGA others(69): Show CATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAGATAGTGACTTG TGTGTGCACGCCAACACTACACGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp2 HG02976.hp2 others(8): Show HG02559.hp1 HG02559.hp2 HG02976.hp2 HG03139.hp1 HG03209.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03492.hp1 NA18906.hp1 NA19043.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0008 a0001c0001 a0009c0008	a0001c0001t0001 a0009c0008t0001 a0001c0001t0001 a0009c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0030 a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0103 a0001c0001t0001g0111 a0009c0008t0001g0110	11	408	0.0270	-76	c.50 others(87): Show c.5049_*5124delATAGTGACTTGTGTGTGCACGCCAACACTACACG GCAGATAGTGACTTGTGTGTGCACGCCAACACTACACGGCAG	GCGR	ENSG00000215644.10	transcript	ENST00000400723.8	protein_coding		4730		chr17	TogoVar
GCNT3_chr15_59606783_59627723	59610599	CTCCTTCC others(69): Show CTCCTTCCTTCCCTCCCTCCATCCCTCCCTCCTTCCCTCTCTCCATCCCT CCCTCCTTCCTTCCTTCCCTCCCTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG02074.hp2 others(11): Show HG00423.hp2 HG00438.hp2 HG02074.hp2 HG02080.hp2 HG02129.hp2 NA18948.hp1 NA18952.hp1 NA18957.hp2 NA18959.hp1 NA18971.hp1 NA18993.hp1 NA18995.hp2 NA19057.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 others(4): Show a0001c0002t0005 a0001c0002t0011 a0001c0002t0014 a0001c0002t0019 a0001c0002t0097 a0001c0002t0101 a0001c0002t0103	a0001c0002t0005g0007 a0001c0002t0005g0030 a0001c0002t0011g0007 others(5): Show a0001c0002t0005g0007 a0001c0002t0005g0030 a0001c0002t0011g0007 a0001c0002t0014g0007 a0001c0002t0019g0007 a0001c0002t0097g0007 a0001c0002t0101g0007 a0001c0002t0103g0048	14	428	0.0327	-76	c.-16 others(87): Show c.-1632_-1557delTCCTTCCTTCCCTCCCTCCATCCCTCCCTCCTTC CCTCTCTCCATCCCTCCCTCCTTCCTTCCTTCCCTCCCTCTT	GCNT3	ENSG00000140297.13	transcript	ENST00000396065.3	protein_coding		1183		chr15	TogoVar
GFPT2_chr5_180295698_180358336	180296879	ACAAGGAA others(69): Show ACAAGGAAGTACAACACACACGTAAGGAAGTACACACACGGAAGTACCCC CCCACACACACACACGGAAGTACTTAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG02040.hp1 HG03927.hp1 HG01192.hp1 HG02040.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0003 a0001c0005	a0001c0003t0008 a0001c0005t0005 a0001c0005t0016 a0001c0003t0008 a0001c0005t0005 a0001c0005t0016	a0001c0003t0008g0145 a0001c0005t0005g0040 a0001c0005t0016g0310 a0001c0003t0008g0145 a0001c0005t0005g0040 a0001c0005t0016g0310	3	412	0.0073	-76	c.46 others(87): Show c.4609_*4684delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTG	GFPT2	ENSG00000131459.13	transcript	ENST00000253778.13	protein_coding		3818		chr5	TogoVar
GGT5_chr22_24214660_24250082	24238864	TAATATAT others(69): Show TAATATATATAATATATATTATATATTTTATATATATATATATTATATAT ATTATATATATAATATATATTATATAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0226 a0001c0003t0001g0226	1	420	0.0024	-76	c.174 others(93): Show c.174-4936_174-4861delTTATATAATATATATTATATATATAATA TATATAATATATATATATATAAAATATATAATATATATTATATATATT	GGT5	ENSG00000099998.19	transcript	ENST00000327365.10	protein_coding	1/11			chr22	TogoVar
GLI2_chr2_120730868_120997653	120965344	AAGGGGCA others(69): Show AAGGGGCACACTCCAGCCGGGATGCAGATGCTGCAGCAGAGGGGCACACT CCAGCCAGGATGCAGGTGCTGCAGCAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02572.hp2 others(9): Show HG02257.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp2 HG03041.hp1 HG03098.hp2 HG03139.hp2 NA20129.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0010 a0012 a0013	a0001c0003 a0001c0026 a0002c0004 others(5): Show a0001c0003 a0001c0026 a0002c0004 a0003c0013 a0006c0010 a0010c0029 a0012c0027 a0013c0031	a0001c0003t0039 a0001c0026t0020 a0002c0004t0009 others(9): Show a0001c0003t0039 a0001c0026t0020 a0002c0004t0009 a0002c0004t0013 a0002c0004t0017 a0003c0013t0001 a0003c0013t0024 a0006c0010t0002 a0006c0010t0003 a0010c0029t0005 a0012c0027t0025 a0013c0031t0017	a0001c0003t0039g0149 a0001c0026t0020g0151 a0002c0004t0009g0102 others(9): Show a0001c0003t0039g0149 a0001c0026t0020g0151 a0002c0004t0009g0102 a0002c0004t0013g0125 a0002c0004t0017g0105 a0003c0013t0001g0001 a0003c0013t0024g0107 a0006c0010t0002g0033 a0006c0010t0003g0016 a0010c0029t0005g0011 a0012c0027t0025g0126 a0013c0031t0017g0008	12	160	0.0750	-76	c.644 others(93): Show c.644-3343_644-3268delATGCTGCAGCAGAGGGGCACACTCCAGC CAGGATGCAGGTGCTGCAGCAGAGGGGCACACTCCAGCCGGGATGCAG	GLI2	ENSG00000074047.22	transcript	ENST00000361492.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
GLT1D1_chr12_128848478_128989968	128971660	CTCCTCCC others(69): Show CTCCTCCCTTCCCCCCTCCCTCCTCCCTTCCCCCCTCCCTCCTCCCTTCC CCCCTCCCTCCTCCCTTCCCCCCTCCA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0313 a0001c0002t0001g0313	1	320	0.0031	-76	c.880 others(95): Show c.880-11229_880-11154delCCTCCCTTCCCCCCTCCCTCCTCCCT TCCCCCCTCCATCCTCCCTTCCCCCCTCCCTCCTCCCTTCCCCCCTCCCT	GLT1D1	ENSG00000151948.12	transcript	ENST00000442111.7	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
GMDS_chr6_1618806_2250605	1827370	CACACGTT others(69): Show CACACGTTTTGGAAAACCTGTATATACACACGTTTTGGAAAACCTGTATA TACACACGTTTTGGAAAACCTGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp1 HG00558.hp1 others(102): Show HG00140.hp2 HG00544.hp1 HG00558.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01175.hp1 HG01261.hp1 HG01496.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02135.hp1 HG02135.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18961.hp1 NA18961.hp2 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19063.hp1 NA19079.hp2 NA19082.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(102): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0105 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0002g0022 a0001c0001t0002g0040 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0090 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0004g0104 a0001c0002t0001g0005 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0030 a0001c0002t0001g0032 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0057 a0001c0002t0001g0066 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0086 a0001c0002t0001g0094 a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0103 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0117 a0001c0002t0001g0118 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0143 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0159 a0001c0002t0001g0164 a0001c0002t0002g0008 a0001c0002t0002g0077 a0001c0002t0002g0110 a0001c0002t0002g0144 a0001c0002t0005g0019 a0001c0002t0006g0166 a0001c0004t0001g0165 a0002c0003t0001g0001	105	166	0.6325	-76	c.772 others(95): Show c.772-84860_772-84785delATATACAGGTTTTCCAAAACGTGTGT ATATACAGGTTTTCCAAAACGTGTGTATATACAGGTTTTCCAAAACGTGT	GMDS	ENSG00000112699.11	transcript	ENST00000380815.5	protein_coding	7/10			chr6	TogoVar
GNG12_chr1_67696475_67838467	67709904	TTATATAG others(69): Show TTATATAGTTATATATATAGTTATATATATAGTTATATATATATAGTTAT ATATATAGTTATATATATAGTTATATA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp1 others(36): Show HG00099.hp2 HG00323.hp2 HG00544.hp1 HG00621.hp2 HG00738.hp1 HG01109.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp2 HG01433.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01981.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG03239.hp2 HG03688.hp1 HG03688.hp2 HG04184.hp1 NA18612.hp1 NA18939.hp1 NA18941.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18955.hp2 NA18960.hp2 NA18964.hp2 NA18974.hp2 NA18979.hp1 NA19010.hp2 NA19054.hp1 NA19081.hp2 NA19082.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 others(1): Show a0001c0001t0002 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030	a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0026 others(35): Show a0001c0001t0002g0003 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0040 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0097 a0001c0001t0002g0100 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0113 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0142 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0159 a0001c0001t0002g0163 a0001c0001t0028g0062 a0001c0001t0029g0197 a0001c0001t0030g0136	39	274	0.1423	-76	c.-26 others(93): Show c.-26-2268_-26-2193delTATATAACTATATATATAACTATATATA TAACTATATATATATAACTATATATATAACTATATATATAACTATATA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG12_chr1_67696475_67838467	67710104	ATATATAT others(69): Show ATATATATAGTTATATATATAGTTATATATATAGTTATATATATATAGTT ATATATATATAGTTATATATATATAGT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01361.hp1 others(18): Show HG00438.hp2 HG00639.hp1 HG01361.hp1 HG02074.hp2 HG02080.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02717.hp2 HG03139.hp1 HG03209.hp1 NA18906.hp2 NA18952.hp1 NA18963.hp2 NA18971.hp1 NA19010.hp1 NA19057.hp2 NA19064.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0021 a0001c0001t0022	a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 others(18): Show a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0249 a0001c0001t0004g0107 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0134 a0001c0001t0004g0149 a0001c0001t0004g0157 a0001c0001t0004g0190 a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0193 a0001c0001t0004g0195 a0001c0001t0004g0263 a0001c0001t0009g0148 a0001c0001t0009g0209 a0001c0001t0009g0210 a0001c0001t0021g0169 a0001c0001t0022g0122	21	274	0.0766	-76	c.-26 others(93): Show c.-26-2468_-26-2393delACTATATATATATAACTATATATATATA ACTATATATATATAACTATATATATAACTATATATATAACTATATATA	GNG12	ENSG00000172380.6	transcript	ENST00000370982.4	protein_coding	2/3			chr1	TogoVar
GNG8_chr19_46628953_46641202	46635608	ATGGGGTG others(69): Show ATGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAG AGGATGGGGAGATGGAGGGAGGGGGTG	A A	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	438	0.0023	-76	c.-44 others(91): Show c.-44+463_-44+538delCACCCCCTCCCTCCATCTCCCCATCCTCTC CCACCCCACACCCCCTCCCTCCATCTCCCCATCCTCTCCCACCCCA	GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2			chr19	TogoVar

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