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
SERPINF2_chr17_1737871_1760265	1740541	G G	GAGTGAGG others(217): Show GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTG AGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGGAGTGAGGAG CCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGA CAGTGAGGGTGGGAAGGGGCCTGATGCAGGAGTGAGGAGCAGGACAGTGA GGGTGGGAAGGGGCCTGATGCAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0188 a0001c0005t0002g0188	1	445	0.0023	224	c.-23 others(235): Show c.-2372_-2371insAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGC CTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGAT GCAGGGAGTGAGGAGCCGGACACTGAGGGTGGGAAGGAGCCTGATGCAGG GAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGGAGTGA GGAGCAGGACAGTGAGGGTGGGAAGGGGCCTGATGCAGAA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		2329		chr17	TogoVar
SH3BP5_chr3_15249353_15337586	15272527	C C	CTAAAGAC others(217): Show CTAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAAC AGAGTGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAA AGACATTACAAAACAGAGTGCCTGTAGGATAAAGACATTACAAAACAGAG TGCCTGTAGGATAAAGACATTACAAAACAGAGTGCCTGTAGGATAAAGAC ATTACAAAACAGAGTGCCTGTAGGA	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	376	0.0027	224	c.331 others(241): Show c.331-2651_331-2650insTCCTACAGGCACTCTGTTTTGTAATGTC TTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTC TGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA TCCTACAGGCACTCTGTTTTGTAATGTCTTTATCCTACAGGCACTCTGTT TTGTAATGTCTTTATCCTACAGGCACTCTGTTTTGTAATGTCTTTA	SH3BP5	ENSG00000131370.16	transcript	ENST00000383791.8	protein_coding	3/8			chr3	TogoVar
SHC2_chr19_411589_466033	431888	C C	CAGATAGA others(217): Show CAGATAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCAGGCAGAT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0014 a0005c0009t0014	a0005c0009t0014g0040 a0005c0009t0014g0040	1	212	0.0047	224	c.111 others(243): Show c.1111-1142_1111-1141insATCTGCCTGGCCTCCTCTATCTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACGATGAAGCGCCATCTATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433044	T T	TAGATGGC others(217): Show TAGATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0002 a0011c0022t0002	a0011c0022t0002g0184 a0011c0022t0002g0184	1	212	0.0047	224	c.111 others(243): Show c.1110+1664_1110+1665insGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACTATCTCACTCACGATGAAGCGCCATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGTGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433044	T T	TAGATGGC others(217): Show TAGATGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GTTAGAGGAGGCCGGGCAGATAGATGGCACTTCATCGTGAGTGAGATCGT GAGTGAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03225.hp1 HG02055.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0005t0006 a0001c0001t0003 a0001c0005t0006	a0001c0001t0003g0036 a0001c0005t0006g0010 a0001c0001t0003g0036 a0001c0005t0006g0010	2	212	0.0094	224	c.111 others(243): Show c.1110+1664_1110+1665insGCCCGGCCTCCTCTATCTCTCACTCA CGATCTCACTCACGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTGCCCGG CCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGTGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433188	G G	GTGAGAGT others(217): Show GTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGC GCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGA TGGCACTTCATCGTGAGTGAGATCA	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA19091.hp1 HG02015.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0006 a0001c0002t0001g0151 a0001c0002t0001g0006 a0001c0002t0001g0151	2	212	0.0094	224	c.111 others(243): Show c.1110+1520_1110+1521insTGATCTCACTCACGATGAAGTGCCAT CTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACGATCT CACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433278	G G	GATGGCGC others(217): Show GATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGATCGTGAGTGAGAGATAGAGGAG GCGGGGCAGATAGATGGCGCTTCATCGTGAGAGAGATCGTGAGTGAGAGT TAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0005 a0004c0011t0005	a0004c0011t0005g0059 a0004c0011t0005g0059	1	212	0.0047	224	c.111 others(243): Show c.1110+1430_1110+1431insATGCCCGGCCTCCTCTAACTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAA CTCTCACTCACGATCTCTCTCACGATGAAGCGCCATCTATCTGCCCCGCC TCCTCTATCTCTCACTCACGATCTCACGATGAAGCGCCATCTATCTGCCC GGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA5_chr3_48462876_48509174	48486242	A A	ATATTATA others(217): Show ATATTATATACTATATATATATTATATATATTATATATTATATACTATAT ATATTATATATACTATAGTATATATTATATAATATATATAATATAGTATA TATTATATAATATATACTATATTATATATAGTATATAATACATTATATGT TATATAACATATAATGTATTATATATTATATAACATATAATATATAATAC ATTATATGTTATATAACATATAATG	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	290	0.0035	224	c.234 others(241): Show c.234-6986_234-6985insCATTATATGTTATATAACATATAATGTA TTATATATTATATGTTATATAATATATAATACATTATATGTTATATAACA TATAATGTATTATATACTATATATAATATAGTATATATTATATAATATAT ACTATATTATATATATTATATAATATATACTATAGTATATATAATATATA TAGTATATAATATATAATATATATAATATATATATAGTATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486242	A A	ATATTATA others(217): Show ATATTATATACTATATATATATTATATATATTATATATTATATACTATAT ATATTATATATACTATAGTATATATTATATAATATATATAATATAGTATA TATTATATAATATATACTATATTATATATAGTATATAATACATTATATGT TATATAACATATAATGTATTATATATTATATGTTATATAATATATAATAC ATTATATGTTATATAACATATAATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02132.hp1 NA18747.hp2 others(4): Show HG00597.hp1 HG02132.hp1 NA18747.hp2 NA18941.hp2 NA18951.hp2 NA18960.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0156 others(3): Show a0001c0001t0001g0010 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0164 a0001c0001t0001g0240 a0001c0001t0001g0241	7	290	0.0241	224	c.234 others(241): Show c.234-6986_234-6985insCATTATATGTTATATAACATATAATGTA TTATATATTATATAACATATAATATATAATACATTATATGTTATATAACA TATAATGTATTATATACTATATATAATATAGTATATATTATATAATATAT ACTATATTATATATATTATATAATATATACTATAGTATATATAATATATA TAGTATATAATATATAATATATATAATATATATATAGTATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(217): Show GCCCCGCTCACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCC GCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCCGCTC ACCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCCGCTCA CACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	242	0.0041	224	c.39 others(235): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG GCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGGT CGGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGG GTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SIGIRR_chr11_400716_419999	401948	G G	GCCCCGCT others(217): Show GCCCCGCTCACACCCGACCCGCTCACCCGCCGACCCGCTCACCCCCGACC CGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTC ACCCCGGACCCCGCTCACACCGGACCCCGCTCACACCCGGACCCCGCTCA CACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCG GGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	242	0.0041	224	c.39 others(235): Show c.3947_*3948insGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAG CGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG TCCGGGTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTC GGGGGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGG TGAGCGGGTCGGCGGGTGAGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3767		chr11	TogoVar
SIK3_chr11_116838402_117103428	116947120	T T	TATATATA others(217): Show TATATATAATATATAAATTATTATTTATATATAATATATAATATATAAAT TATTATTTATATATAATATATAATATATAAATTATTATTTATATATAATA TATAATATATAAATTATTATTTATATATAATATATAATATATAAATTATT ATTTATATATAATATATAATATATAAATTATTATTTATATATAATATATA ATATATAAATTATTATTTATATATA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0319 a0002c0003t0007g0319	1	366	0.0027	224	c.454 others(241): Show c.454+6923_454+6924insTATATATAAATAATAATTTATATATTAT ATATTATATATAAATAATAATTTATATATTATATATTATATATAAATAAT AATTTATATATTATATATTATATATAAATAATAATTTATATATTATATAT TATATATAAATAATAATTTATATATTATATATTATATATAAATAATAATT TATATATTATATATTATATATAAATAATAATTTATATATTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SIK3_chr11_116838402_117103428	116947127	A A	AATATATA others(217): Show AATATATAAATTATTATTTATATATAATATATAATATATAAATTATTATT TATATATAATATATAATATATAAATTATTATTTATATATAATATATAATA TATAAATTATTATTTATATATAATATATAATATATAAATTATTATTTATA TATAATATATAATATATAAATTATTATTTATATATAATATATAATATATA AATTATTATTTATATATAATATATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	366	0.0027	224	c.454 others(241): Show c.454+6916_454+6917insAATATATTATATATAAATAATAATTTAT ATATTATATATTATATATAAATAATAATTTATATATTATATATTATATAT AAATAATAATTTATATATTATATATTATATATAAATAATAATTTATATAT TATATATTATATATAAATAATAATTTATATATTATATATTATATATAAAT AATAATTTATATATTATATATTATATATAAATAATAATTTATATAT	SIK3	ENSG00000160584.17	transcript	ENST00000445177.6	protein_coding	3/24			chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1071114	G G	GCCCCAGT others(217): Show GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTAACGCAGCCCCCAG TGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAGCACACGGGCAT CACACTTATGCAGCCCCCAGTGAGC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0063 a0002c0008t0002g0063	1	118	0.0085	224	c.224 others(243): Show c.2241+2518_2241+2519insGCTCACTGGGGGCTGCATAAGTGTGA TGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGT GTGCTGGGGGCTCACTGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGG GGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCAC TGGGGGCTGCGTTAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140362554	G G	GTCAGCCC others(217): Show GTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG ATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0336 a0002c0002t0006g0336	1	346	0.0029	224	c.375 others(241): Show c.375+1853_375+1854insTCCCCCCACCTCCCTCCCGGACGGGGCG GCTGGCCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC49A3_chr4_676829_694151	679234	C C	CAGGGCGG others(217): Show CAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGAGCCCTGAAGCTGC GAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAGCTGGCAGAGAGCA TCCCAGGGTGAGACAGGGCGGGTGGGACAGCCCAAGCCTGGAAACTCAGA GCCCTGAAGCTGCGAGGTGATGGCCCTGGCCGCCCTTGGTTCCATCAGAG CTGGCAGAGAGCATCCCAGGGTGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG03195.hp1 HG02922.hp1 HG03195.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0003 a0001c0009t0003	a0001c0009t0003g0027 a0001c0009t0003g0027	2	412	0.0049	224	c.27 others(235): Show c.2723_*2724insCTCACCCTGGGATGCTCTCTGCCAGCTCTGATGG AACCAAGGGCGGCCAGGGCCATCACCTCGCAGCTTCAGGGCTCTGAGTTT CCAGGCTTGGGCTGTCCCACCCGCCCTGTCTCACCCTGGGATGCTCTCTG CCAGCTCTGATGGAACCAAGGGCGGCCAGGGCCATCACCTCGCAGCTTCA GGGCTCTGAGTTTCCAGGCTTGGGCTGTCCCACCCGCCCT	SLC49A3	ENSG00000169026.13	transcript	ENST00000322224.9	protein_coding		2594		chr4	TogoVar
SLC66A2_chr18_79897420_79956653	79920761	G G	GGGGAGAG others(217): Show GGGGAGAGACGGAACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACGGG AACCGAGGGAGAGGTCAGGGTCAGTGGGGAGAGACAGGAACCGAGGGAGA GGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAAGCTCAGT GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGGGGAGAGACGG AACCGAGTGAGAGGTCAAGGTCAGT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	352	0.0028	224	c.392 others(241): Show c.392-1362_392-1361insACTGACCTTGACCTCTCACTCGGTTCCG TCTCTCCCCACTGAGCTTGACCTCTCCCTCGGTTCCTGTCTCTCCCCACT GAGCTTGACCTCTCCCTCGGTTCCGTCTCTCCCCACTGACCTTGACCTCT CCCTCGGTTCCTGTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCC GTCTCTCCCCACTGACCCTGACCTCTCCCTCGGTTCCGTCTCTCCC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(217): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTGGGGCC TCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA TCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0352 a0001c0002t0002g0352	1	456	0.0022	224	c.732 others(239): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCTTG GGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAA AGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238320	A A	ATCAGGTT others(217): Show ATCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGA GTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGAC ATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCCTGGGGCCTCAGGAAAGAGG	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19070.hp1 NA19010.hp1 NA19070.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0002 a0007c0007t0002	a0007c0007t0002g0021 a0007c0007t0002g0021	2	456	0.0044	224	c.732 others(239): Show c.732+274_732+275insGGCCTGGAGGACTCAGGAAAGACATCAGGT TTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCT GGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGA AAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422374	A A	AGTGCTGC others(217): Show AGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGCCCAC GCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGC CCACCGCTGCCCACGGTGCTGCCCAAGGTGCTGGGTACCCACCGCTGCCC AGTGCTGCCCACGCTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGG TGCTGGGTGCCCACCGCTGCCCACG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0291 a0001c0001t0011g0291	1	373	0.0027	224	c.654 others(239): Show c.654-361_654-360insCGTGGGCAGCGGTGGGCACCCAGCACCGTG GGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGGGCA GCGGTGGGTACCCAGCACCTTGGGCAGCACCGTGGGCAGCGGTGGGCACC CAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCAC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1422441	G G	GCTGCCCA others(217): Show GCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGT GCTGCCCAAGGTGCTGGGTACCCACCGCTGCCCAGTGCTGCCCACGCTGC TGGGTACCCACCGCTGCCCAGTGCTGCCCACGGTGCTGGGTGCCCACCGC TGCCCACGGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGC TGCCCACGCTGCTGGGTGCCCACCA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03579.hp2 HG02257.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0007 a0001c0001t0011g0007	2	373	0.0054	224	c.654 others(239): Show c.654-428_654-427insTGGTGGGCACCCAGCAGCGTGGGCAGCACC GTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACCGTGGGCAGCGGT GGGCACCCAGCACCGTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGC GTGGGCAGCACTGGGCAGCGGTGGGTACCCAGCACCTTGGGCAGCACCGT GGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLC7A1_chr13_29504414_29600688	29558228	A A	AGGGGGAG others(217): Show AGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAATGAGGGGGGAGT GAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATCTGAA TGAGGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGG AGTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGT GAGTGAGGGGGACTGAATCTGAATG	intron_variant intron_variant	MODIFIER	HG00558.hp2 NA18941.hp2 HG00558.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0152 a0001c0001t0003g0175	2	330	0.0061	224	c.-11 others(243): Show c.-114-4369_-114-4368insCATTCAGATTCAGTCCCCCTCACTCA CATTCACTCCCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTC CCCCTCACTCACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCAT TCAGATTCACTCCCCCTCACTCACATTCACTCCCCCCTCACTCACATTCA CTCCCCCCTCATTCAGATTCACTCCCCCTCACTCACATTCACTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92143383	A A	ATAAAATA others(217): Show ATAAAATATATATATTATATATAATATATGTAATATTATATATAATATAT ATATAATATATAATATATATAATATATATAATATATATTATATATAATAT ATATTATATATAATATATATATTATATATAATATATATATTATATATAAT ATATATTATATATATTATATTATATATAATATATATAATATATATATATT ATATATTATATATAATATATATATT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	190	0.0053	224	c.151 others(243): Show c.1513-3601_1513-3600insTAAAATATATATATTATATATAATAT ATGTAATATTATATATAATATATATATAATATATAATATATATAATATAT ATAATATATATTATATATAATATATATTATATATAATATATATATTATAT ATAATATATATATTATATATAATATATATTATATATATTATATTATATAT AATATATATAATATATATATATTATATATTATATATAATATATATATT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(217): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTTTATATATTATATATAT TATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0222 a0001c0001t0047g0222	1	310	0.0032	224	c.784 others(239): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATATAATATATAAAATATATATTATACATAATA TATATAATATATATAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(217): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTTTATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTTTATATATTATATATAT TATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0204 a0001c0001t0018g0204	1	310	0.0032	224	c.784 others(239): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATATAATATATAAAATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(217): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTTTATATATTATATATATTA TGTATAATATATATTTTATATATTATATATATTATGTATAATATATATTT TATATATTATATATATTATGTATAATATATATTTTATATATTATATATAT TATGTATAATATATATTTTATATTA	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0209 a0001c0001t0016g0209	1	310	0.0032	224	c.784 others(239): Show c.784+877_784+878insTAATATAAAATATATATTATACATAATATA TATAATATATAAAATATATATTATACATAATATATATAATATATAAAATA TATATTATACATAATATATATAATATATAAAATATATATTATACATAATA TATATAATATATAAAATATATATTATACATAATATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATATATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246024440	G G	GAGATACA others(217): Show GAGATACAGCAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGAC AGCATCTAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGA TACAGCAAGTGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCA TCTAGGAAGACAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACA GCAAGTGGACAGCATCTAGGAAGAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02109.hp1 HG02132.hp1 others(4): Show HG00544.hp1 HG02109.hp1 HG02132.hp1 HG03209.hp1 NA18965.hp1 NA18984.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0023 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0002g0023 a0001c0001t0002g0071 a0001c0002t0002g0084 a0002c0003t0001g0103 a0002c0003t0001g0144	7	150	0.0467	224	c.532 others(243): Show c.532-94504_532-94503insGTCTTCCTAGATGCTGTCCACTTGCT GTATCTCTCTTCCTAGATGCTGTCCACTTCCTGTATCTGTCTTCCTAGAT GCTGTCCACTTCCTGTATCTTCCTTCCTAGATGCTGTCCACTTGCTGTAT CTGTCTTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTG TCCACTTGCTGTATCTGTTTTCCTAGATGCTGTCCACTTGCTGTATCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246429758	T T	TTAACTCC others(217): Show TTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAAATAATCATACGA GAAACGGTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAAATAATC ATACGAGAAACGGTAACTCCTGCCTCAAGGATATGACTGGCAAGTACTAA ATAATCATACGAGAAACGGTAACTCCTGCCTCAAGGATATGACTGGCAAG TACTAAATAATCATACGAGAAACGG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03209.hp1 HG02895.hp2 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0144 a0002c0005t0001g0146 a0002c0003t0001g0144 a0002c0005t0001g0146	2	150	0.0133	224	c.165 others(243): Show c.165-74888_165-74665dupCCGTTTCTCGTATGATTATTTAGTAC TTGCCAGTCATATCCTTGAGGCAGGAGTTACCGTTTCTCGTATGATTATT TAGTACTTGCCAGTCATATCCTTGAGGCAGGAGTTACCGTTTCTCGTATG ATTATTTAGTACTTGCCAGTCATATCCTTGAGGCAGGAGTTACCGTTTCT CGTATGATTATTTAGTACTTGCCAGTCATATCCTTGAGGCAGGAGTTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1222115	G G	GTCTCTGC others(217): Show GTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTT CTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTCTGTCTCTCTCTGTCTCTGTCTCTGCCTATCTCTGTCT CTGTCTCTCTCTGTCTCTGTCTCTC	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	190	0.0053	224	c.719 others(243): Show c.719+12890_719+12891insGCCTATCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGC CTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCT CTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTGT CTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353209	A A	ATATATAT others(217): Show ATATATATATAAATATAAATATATATATAAATATATATATATTTATATAT ATAAATATATATATATAAATATATATATATTTATATATATAAATATATAT ATATTTATATATATAAATATATATATATTTATATATATAAATATATATAT ATTTATATATATAAATATATATATATTTATATATATAAATATATATATAT TTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02630.hp2 others(2): Show HG01070.hp1 HG01071.hp2 HG02630.hp2 HG02922.hp2 HG03225.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0064 a0001c0004t0011 a0001c0004t0064	a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0232 others(2): Show a0001c0004t0011g0138 a0001c0004t0011g0140 a0001c0004t0011g0232 a0001c0004t0011g0246 a0001c0004t0064g0139	5	382	0.0131	224	c.159 others(241): Show c.1597-366_1597-365insAATATAAATATATATATAAATATATATA TATTTATATATATAAATATATATATATAAATATATATATATTTATATATA TAAATATATATATATTTATATATATAAATATATATATATTTATATATATA AATATATATATATTTATATATATAAATATATATATATTTATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT1_chr1_179288797_179363680	179353211	A A	ATATATAT others(217): Show ATATATATATAAATATATATATATTTATATATATAAATATATATATATAA ATATATATATATTTATATATATAAATATATATATATAAATATATATATAT TTATATATATAAATATATATATATAAATATATATATATTTATATATATAA ATATATATATATAAATATATATATATTTATATATATAAATATATATATAT TTATATATATAAATATATATATATT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02922.hp1 HG02293.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0001 a0001c0001t0004 a0001c0002t0001	a0001c0001t0004g0272 a0001c0002t0001g0167 a0001c0001t0004g0272 a0001c0002t0001g0167	2	382	0.0052	224	c.159 others(241): Show c.1597-364_1597-363insAATATATATATATTTATATATATAAATA TATATATATAAATATATATATATTTATATATATAAATATATATATATAAA TATATATATATTTATATATATAAATATATATATATAAATATATATATATT TATATATATAAATATATATATATAAATATATATATATTTATATATATAAA TATATATATATTTATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SORCS2_chr4_7187538_7747827	7448836	T T	TTCCCTCC others(217): Show TTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT TCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0157 a0001c0005t0042g0157	1	168	0.0060	224	c.548 others(243): Show c.548+52487_548+52488insCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448843	T T	TCTCCCTC others(217): Show TCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTC TTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0126 a0004c0007t0001g0126	1	168	0.0060	224	c.548 others(243): Show c.548+52490_548+52491insCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCC CTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTT CCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(217): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCTCCTCCCTCCCTCCCTCCTCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0068 a0001c0001t0068	a0001c0001t0068g0007 a0001c0001t0068g0007	1	168	0.0060	224	c.548 others(243): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTCCTCCTCCCTCCCTCCCTCCTCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(217): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02148.hp1 HG02148.hp2 others(2): Show HG01192.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp1 HG03942.hp1	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0011c0023	a0001c0001t0003 a0001c0001t0005 a0001c0003t0009 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0003t0009 a0002c0004t0003 a0011c0023t0008	a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0003t0009g0086 others(2): Show a0001c0001t0003g0098 a0001c0001t0005g0067 a0001c0003t0009g0086 a0002c0004t0003g0095 a0011c0023t0008g0122	5	168	0.0298	224	c.548 others(243): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7449233	C C	CCCTCCCT others(217): Show CCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02647.hp2 HG02922.hp1 others(2): Show HG01167.hp1 HG02647.hp2 HG02922.hp1 HG03579.hp2 NA19240.hp2	a0001 a0015 a0018 a0001 a0015 a0018	a0001c0002 a0001c0010 a0001c0028 others(2): Show a0001c0002 a0001c0010 a0001c0028 a0015c0054 a0018c0025	a0001c0002t0001 a0001c0010t0073 a0001c0028t0028 others(2): Show a0001c0002t0001 a0001c0010t0073 a0001c0028t0028 a0015c0054t0022 a0018c0025t0031	a0001c0002t0001g0123 a0001c0010t0073g0167 a0001c0028t0028g0152 others(2): Show a0001c0002t0001g0123 a0001c0010t0073g0167 a0001c0028t0028g0152 a0015c0054t0022g0113 a0018c0025t0031g0025	5	168	0.0298	224	c.548 others(243): Show c.548+52893_548+52894insTCCTCCCTCTCTTCCTCCCTCCCTCC CTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SOX5_chr12_23524504_23954670	23837671	A A	ATATATTT others(217): Show ATATATTTATATTTATATAATATATAAGATATATTTATATTTATATAATA TATAAGATATATTTATATTTATATAATATATAAGATATATTTATATTTAT ATAATATATAAGATATATTTATATTTATATAATATATAAGATATATTTAT ATTTATATAATATATAAGATATATTTATATTTATATAATATATAAGCTAT ATTTATATTTATATAATATATAAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01993.hp2 HG03225.hp1 HG00639.hp2 HG01993.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0010 a0001c0006t0007 a0001c0001t0010 a0001c0006t0007	a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0006t0007g0115 a0001c0001t0010g0003 a0001c0001t0010g0038 a0001c0006t0007g0115	3	212	0.0142	224	c.481 others(241): Show c.481+8311_481+8312insGCTTATATATTATATAAATATAAATATA GCTTATATATTATATAAATATAAATATATCTTATATATTATATAAATATA AATATATCTTATATATTATATAAATATAAATATATCTTATATATTATATA AATATAAATATATCTTATATATTATATAAATATAAATATATCTTATATAT TATATAAATATAAATATATCTTATATATTATATAAATATAAATATA	SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14			chr12	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(217): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	418	0.0024	224	c.54 others(235): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(217): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0062 a0001c0001t0007g0062	1	418	0.0024	224	c.54 others(235): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGG GAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SUFU_chr10_102498972_102638535	102637512	A A	ATTATATA others(217): Show ATTATATATTATATAACTATATATTATATATAATATATATTATATATTAT ATAACATATATTATATATAATATATATTATATATTATATAACTATATATT ATATATAATATATATTATATATTATATAACATATATTATATATAATATAT ATTATATATTATATAACTATATATTATATATAATATATATTATATATTAT ATAACATATATTATATATAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0085 a0001c0001t0011g0085	1	268	0.0037	224	c.73 others(235): Show c.7357_*7358insTTATATATTATATAACTATATATTATATATAATA TATATTATATATTATATAACATATATTATATATAATATATATTATATATT ATATAACTATATATTATATATAATATATATTATATATTATATAACATATA TTATATATAATATATATTATATATTATATAACTATATATTATATATAATA TATATTATATATTATATAACATATATTATATATAATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3978		chr10	TogoVar
SWAP70_chr11_9659077_9757993	9671675	A A	AATAGAAA others(217): Show AATAGAAATATATAAATATATTTCTATGTATACATAGAAATATATAAATA TATTTCTATGTATACATAGAAATATATAAATATATTTCTATGTATACATA GAAATATATAAATATATTTCTATGTATACATAGAAATATATAAATATATT TCTATGTATACATAGAAATATATAAATATATTTCTATGTATACATAGAAA TATATAAATATATTTCTATGTATAC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0026 a0001c0003t0026	a0001c0003t0026g0015 a0001c0003t0026g0015	1	294	0.0034	224	c.99+ others(239): Show c.99+7472_99+7473insTAAATATATTTCTATGTATACATAGAAATA TATAAATATATTTCTATGTATACATAGAAATATATAAATATATTTCTATG TATACATAGAAATATATAAATATATTTCTATGTATACATAGAAATATATA AATATATTTCTATGTATACATAGAAATATATAAATATATTTCTATGTATA CATAGAAATATATAAATATATTTCTATGTATACATAGAAATATA	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
TBC1D2B_chr15_77989985_78082711	77992770	G G	GCCCCCCC others(217): Show GCCCCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCA CTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCACTCCCCCCCACTCCC CCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCC CCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCC CCCACTCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0147 a0001c0001t0004g0147	1	280	0.0036	224	c.53 others(235): Show c.5389_*5390insAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGG GGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGGAG TGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGG GGGGAGTGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGA GTGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2214		chr15	TogoVar
TCF25_chr16_89868592_89916379	89907819	C C	CCCAGCTC others(217): Show CCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTC CCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCACCTCCCAGTTTC CACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCC AGCTCCCACCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCA GCTCCCGGCTCCCACCTCCCAGTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0276 a0002c0003t0001g0276	1	300	0.0033	224	c.179 others(241): Show c.1799+500_1799+501insGCTCCCGGCTCCCACCTCCCAGTTTCCA CCTCCCAGCTCCAACCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCAC CTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCC TTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCCCAGCTCCCACCT CTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF25_chr16_89868592_89916379	89908808	C C	CCTCCCAA others(217): Show CCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCAC CTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCC TCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGTT CCCACCTTCCAGCTCCCAGCTCCCAGCTCCCGCCTCCCGCCTCCCAGCTC CCAGCTCCTGCCTCCCACCTGCCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01192.hp2 HG02145.hp2 others(14): Show HG01109.hp1 HG01192.hp2 HG02145.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02896.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03579.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0083 a0001c0001t0001g0293	17	300	0.0567	224	c.179 others(243): Show c.1799+1489_1799+1490insCCAACTCCCTCCTCCCACCCCCCACC TCCCTCCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCT CCCACCTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTC GCAGTTCCCACCTCCCAGTTCCCACCTTCCAGCTCCCAGCTCCCAGCTCC CGCCTCCCGCCTCCCAGCTCCCAGCTCCTGCCTCCCACCTGCCAGCTC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TERT_chr5_1248167_1300068	1272663	G G	GCCATCCA others(217): Show GCCATCCACAGTCACCACACATCAGACCCCTGTGACCGACTGCCATCCAC AGTCACCACACATCAGACCCTACGACCGCCATCCACAGTCACCACACATC AGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCC ATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCCTGTGACCGATCA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0366 a0001c0001t0002g0366	1	392	0.0026	224	c.228 others(241): Show c.2287-384_2287-383insTGATCGGTCACAGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTG GATGGCAGTCGGTCACAGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TIAM2_chr6_154990315_155262723	155029448	G G	GTATATAT others(217): Show GTATATATAATATATACTATATATTATATATAATATATAGTATATATTAT ATATAATATATAGTATATATTATATATACTATAGTATAATATATACTATA GTATATATAGTATATATTATATATAATATATACTATATATTATATATAAT ATATACTATATATTATATATAATATATACTATATATTATATATAATATAT ACTATATATTATATATAATATATAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	230	0.0044	224	c.-20 others(245): Show c.-209+33963_-209+33964insAATATATACTATATATTATATATA ATATATAGTATATATTATATATAATATATAGTATATATTATATATACTAT AGTATAATATATACTATAGTATATATAGTATATATTATATATAATATATA CTATATATTATATATAATATATACTATATATTATATATAATATATACTAT ATATTATATATAATATATACTATATATTATATATAATATATACTATATAT	TIAM2	ENSG00000146426.19	transcript	ENST00000682666.1	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr6	TogoVar
TIGAR_chr12_4316213_4365028	4319789	T T	TGAGTCAG others(217): Show TGAGTCAGGGTGGCGTAGGTAATGGGAAGGAGTCAGGGTGGAGTAGGTAA TGGGAAGGAGTCAGGGTGGAGTAGGTAATGGGAAGGAGTCAGGGTGGAGT AGGTAATGGGAAGGAGTCAGGGTGGAGTAGGTAATGGGAAGGAGTCAGGG TGGAGTAGGTAATGGGAAGGAGTCAGGGTGGAGTAGGTAATGGGAAGGAG TCAGGGTGGCGTAGGTAATGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0003 a0001c0002t0002g0003	1	420	0.0024	224	c.-14 others(235): Show c.-1483_-1482insGAGTCAGGGTGGCGTAGGTAATGGGAAGGAGTCA GGGTGGAGTAGGTAATGGGAAGGAGTCAGGGTGGAGTAGGTAATGGGAAG GAGTCAGGGTGGAGTAGGTAATGGGAAGGAGTCAGGGTGGAGTAGGTAAT GGGAAGGAGTCAGGGTGGAGTAGGTAATGGGAAGGAGTCAGGGTGGAGTA GGTAATGGGAAGGAGTCAGGGTGGCGTAGGTAATGGGAAG	TIGAR	ENSG00000078237.7	transcript	ENST00000179259.6	protein_coding		1423		chr12	TogoVar
TM4SF1_chr3_149364022_149382649	149380416	G G	GGCCAGCC others(217): Show GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCAGCCCCGTCCGGGAG GGAGGTGGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGGGAGGG AGGTTTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCTGGGAGGGA GGTTTGGGGGTCAGCCCCCCGCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG01243.hp1 HG01256.hp1 others(19): Show HG01099.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01891.hp2 HG02257.hp1 HG02647.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03942.hp1 NA19030.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0001t0001 a0001c0001t0002 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(6): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0002g0031 a0001c0002t0002g0004	22	434	0.0507	224	c.-28 others(235): Show c.-2870_-2869insTGGGCGGGGGGCTGACCCCCAAACCTCCCTCCCA GACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCAAACCTCCCTCCCAG ACGGGGCGGCTGGCCGGGTGGGGGGCTGACCCCCCACCTCCCTCCCGGAC GGGGCTGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCC GGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGC	TM4SF1	ENSG00000169908.12	transcript	ENST00000305366.8	protein_coding		2768		chr3	TogoVar
TMEM120B_chr12_121707752_121787068	121748201	T T	TGGGAGGC others(217): Show TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	314	0.0032	224	c.189 others(239): Show c.189-118_189-117insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121748201	T T	TGGGAGGC others(217): Show TGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGC	intron_variant intron_variant	MODIFIER	NA19054.hp1 NA19084.hp2 NA19085.hp1 NA19054.hp1 NA19084.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0044 a0001c0001t0097 a0001c0001t0043 a0001c0001t0044 a0001c0001t0097	a0001c0001t0043g0310 a0001c0001t0044g0312 a0001c0001t0097g0311 a0001c0001t0043g0310 a0001c0001t0044g0312 a0001c0001t0097g0311	3	314	0.0096	224	c.189 others(239): Show c.189-118_189-117insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGCGGGAGGC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar

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