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
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(346): Show GTATTATATATTATATATAATACATTATATGTTATATAACATAATGTATT ATATATTATATATTATATAATATATAATACATTATGTTATATAACATATA ATGTATTATATATTATATAATATATAATGTATTATATATTATATAATATA TAATATATAATGTATTATATATTATATAATATATAATATATAATGTATTA TATATTATATAATATATAATATATAATGTATTATATATTATATAATATAT AATATATAATGTATTATATATTATATAATATATAATATATAATGTATTAT ATATTATATAATATATAATATATAATACATTATTTATTATATAATATATA ATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02886.hp2 HG02280.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0035 a0001c0001t0001g0037	2	290	0.0069	353	c.234 others(370): Show c.234-7088_234-7087insATATTATATATTATATAATAAATAATGT ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATACAT TATATATTATATAATATATAATACATTATATGTTATATAACATAATGTAT TATATATTATATAATATATAATATATAATACATTATGTTATATAACATAT AATGTATTATATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SHISA5_chr3_48462876_48509174	48486344	G G	GTATTATA others(346): Show GTATTATATATTATATATAATACATTATATGTTATATAACATAATGTATT ATATATTATATATTATATAATATATAATACATTATGTTATATAACATATA ATGTATTATATATTATATAATATATAATGTATTATATATTATATAATATA TAATATATAATGTATTATATATTATATAATATATAATATATAATGTATTA TATATTATATAATATATAATATATAATGTATTATATATTATATAATATAT AATATATAATGTATTATATATTATATAATATATAATATATAATGTATTAT ATATTATATAATATATAATATATAATGTATTATATATTATATAATATATA ATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	290	0.0035	353	c.234 others(370): Show c.234-7088_234-7087insATATTATATATTATATAATATATAATAC ATTATATATTATATATTATATAATATATAATACATTATATATTATATATT ATATAATATATAATACATTATATATTATATATTATATAATATATAATACA TTATATATTATATATTATATAATATATAATACATTATATATTATATATTA TATAATATATAATACATTATATATTATATATTATATAATATATAATACAT TATATATTATATAATATATAATACATTATATGTTATATAACATAATGTAT TATATATTATATAATATATAATATATAATACATTATGTTATATAACATAT AATGTATTATATATAATATATAATA	SHISA5	ENSG00000164054.17	transcript	ENST00000296444.7	protein_coding	2/5			chr3	TogoVar
SIM1_chr6_100380009_100469921	100428628	T T	TAAGAATG others(346): Show TAAGAATGTTCATACCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTGGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0289 a0001c0001t0053g0289	1	320	0.0031	353	c.999 others(370): Show c.999-7671_999-7670insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCAGGTATGAACATTCTT	SIM1	ENSG00000112246.10	transcript	ENST00000369208.8	protein_coding	9/11			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(346): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGCGGGGGGGCGGGAGGGGT GGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGGA GGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAAG GAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGGCGGGGGGGGCGG GAGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA18906.hp2 HG01109.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0053 a0001c0001t0004 a0001c0001t0053	a0001c0001t0004g0190 a0001c0001t0053g0202 a0001c0001t0004g0190 a0001c0001t0053g0202	2	222	0.0090	353	c.914 others(372): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCGC GTCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCC CCCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCC TCCCGCCCCCCCGCCTCCTCCCCCTCCCACCCCTCCCGCCCCCCCGCCCC CCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(346): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGGCCGGAGGGGGAGGAGGCGGGGGGGGCGGGGGGGCGGGAGGGG CGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCGGG AGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGGGGGGAGGGAGGGGAA GGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGGGGGCGGGGGGGGCGG GAGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0132 a0001c0001t0005g0132	1	222	0.0045	353	c.914 others(372): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCGCG TCCTCCCCCTCCCGCCCCCCCCGCCTCCTTCCCCTCCCTCCCCCCCGCCC CCCCCGCCTCCTTCCCCTCCCGCCCCCTCCCGCCCCCCCGCCTCCCCCCT CCCGCCCCCCCGCCTCCTCCCCCTCCCGCCCCTCCCGCCCCCCCGCCCCC CCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCCCCCGCCTCCCCCCTCC CGCCCCCCCGCCTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCG CCTCCCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCC CCGCCTCCTCCCCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(346): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTAT TTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	410	0.0024	353	c.-26 others(372): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTATTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(346): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTAT TTTATTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0360 a0001c0001t0010g0360	1	410	0.0024	353	c.-26 others(372): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTATTTTATTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(346): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTAT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00609.hp1 others(53): Show HG00140.hp2 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00741.hp2 HG01071.hp1 HG01192.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp1 HG02129.hp2 HG02155.hp2 HG02258.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18945.hp2 NA18949.hp1 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18981.hp1 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19005.hp1 NA19030.hp1 NA19054.hp2 NA19062.hp2 NA19064.hp1 NA19068.hp1 NA19088.hp2 NA19240.hp1 NA20300.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0002c0006 a0004c0003 others(1): Show a0001c0001 a0002c0006 a0004c0003 a0005c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0016 a0002c0006t0001 a0004c0003t0001 a0005c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0143 others(53): Show a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0143 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0330 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0387 a0001c0001t0002g0092 a0001c0001t0002g0142 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0160 a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0368 a0001c0001t0002g0388 a0001c0001t0002g0391 a0001c0001t0003g0361 a0001c0001t0003g0362 a0001c0001t0003g0363 a0001c0001t0003g0389 a0001c0001t0009g0367 a0001c0001t0011g0390 a0001c0001t0014g0177 a0001c0001t0016g0174 a0002c0006t0001g0152 a0004c0003t0001g0151 a0005c0002t0001g0154	56	410	0.1366	353	c.-26 others(372): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(346): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTAT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCT	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0184 a0001c0001t0002g0184	1	410	0.0024	353	c.-26 others(372): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTATTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCTCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(346): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTTATTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCACAGGCG CCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19011.hp1 HG00642.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0328 a0001c0001t0001g0185 a0001c0001t0001g0328	2	410	0.0049	353	c.-26 others(372): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT TATTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC CACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC25A6_chrX_1381152_1397113	1392958	C C	CCTCCCTC others(346): Show CCTCCCTCCTCCCTCCTCCCGCCTCCCTCCTCCCTCCTCCCTCCCTCCCT CCTCCCTCCTCCCGCCTCCCGCCTCCCTCCCTCCCGCCTCCCTCCTCCCT CCCTCCCGCCTCCCTCCCTCCCTCCCTCCCGCCTCCCTCCCTCCCTCCTC CCGCCTCCCTCCTCCCTCCTCCCTCCTCCTCTCCCTTCCCGGCTCTCTCC CGCCTCCCGCCTCCCTCCCTCCCTCCTCCCGCCTCCCGCCTCCCTCCTCC CTCCCTCCCGCCTCCCTCCTCCCTCCTCCCGCCTCCCGCCTCCCTCCTCC CTCCCTCCCGCCTCCCGCCTCCCTCCCTCCCGCCTCCCTCCTCCCTCCCT CCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	196	0.0051	353	c.-95 others(362): Show c.-950_-949insCGGGAGGGAGGGAGGAGGGAGGCGGGAGGGAGGGAG GCGGGAGGCGGGAGGGAGGGAGGAGGGAGGCGGGAGGCGGGAGGAGGGAG GAGGGAGGCGGGAGGGAGGGAGGAGGGAGGCGGGAGGCGGGAGGAGGGAG GGAGGGAGGCGGGAGGCGGGAGAGAGCCGGGAAGGGAGAGGAGGAGGGAG GAGGGAGGAGGGAGGCGGGAGGAGGGAGGGAGGGAGGCGGGAGGGAGGGA GGGAGGGAGGCGGGAGGGAGGGAGGAGGGAGGCGGGAGGGAGGGAGGCGG GAGGCGGGAGGAGGGAGGAGGGAGGGAGGGAGGAGGGAGGAGGGAGGCGG GAGGAGGGAGGAGGGAG	SLC25A6	ENSG00000169100.14	transcript	ENST00000381401.11	protein_coding		846		chrX	TogoVar
SLC35F1_chr6_117902264_118322671	118071064	G G	GTATATAT others(346): Show GTATATATATACACATAGTATATATATTCTACGTATATATATACACATAG TATATATATTCTACGTATATATATACACACGTAGTATATATATTCTATGT GTATATATATACACATAGTATATATATTCTACGTGTGTATATATATACAC ATAGTATATATATTCTACGTGTATGTATACACATATATACATAGAATATA TATACTATGTGTATATATATACACGTAGAATATATATACTATGTGTATAT ATACGTAGAATATATATACTATGTGTATATATACGTAGAATATATATACT ATGTGTATATATATACGTAGAATATATATACTATGTGTATATATATACGT AGAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA18522.hp1 HG02723.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0058 a0001c0001t0017 a0001c0001t0058	a0001c0001t0017g0176 a0001c0001t0058g0174 a0001c0001t0017g0176 a0001c0001t0058g0174	2	182	0.0110	353	c.174 others(372): Show c.174-83373_174-83372insTACACATAGTATATATATTCTACGTA TATATATACACATAGTATATATATTCTACGTATATATATACACACGTAGT ATATATATTCTATGTGTATATATATACACATAGTATATATATTCTACGTG TGTATATATATACACATAGTATATATATTCTACGTGTATGTATACACATA TATACATAGAATATATATACTATGTGTATATATATACACGTAGAATATAT ATACTATGTGTATATATACGTAGAATATATATACTATGTGTATATATACG TAGAATATATATACTATGTGTATATATATACGTAGAATATATATACTATG TGTATATATATACGTAGAATATATATA	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMC5_chr9_70253978_70359873	70358709	A A	AAATATTT others(346): Show AAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0296 a0001c0001t0002g0296	1	366	0.0027	353	c.63 others(364): Show c.6378_*6379insAATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding		3837		chr9	TogoVar
SMIM28_chr6_138372905_138388486	138376375	T T	TCTGATAC others(346): Show TCTGATACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	374	0.0027	353	c.-16 others(364): Show c.-1698_-1697insCTGATACTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding		1529		chr6	TogoVar
SMIM35_chr11_117998634_118091963	118003568	T T	TAAGAATA others(346): Show TAAGAATATGGCTCTATCCAGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0303 a0001c0001t0016g0303	1	408	0.0025	353	c.28 others(364): Show c.2841_*2842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTC ACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGC CTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGC TGGATAGAGCCATATTCTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding		65		chr11	TogoVar
SMYD3_chr1_245744347_246512279	246024566	G G	GGAAGATA others(346): Show GGAAGATACAGGAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGG ACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATCTAGGAAGGGA GATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAGTGGACAG CATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATA CAGGAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATC TAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGC AAGTGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGG AAGA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03098.hp2 HG04228.hp1 others(1): Show HG00140.hp2 HG03098.hp2 HG04228.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002	a0001c0002t0001g0024 a0001c0002t0002g0077 a0002c0003t0001g0109 others(1): Show a0001c0002t0001g0024 a0001c0002t0002g0077 a0002c0003t0001g0109 a0002c0003t0002g0114	4	150	0.0267	353	c.532 others(372): Show c.532-94630_532-94629insTCTTCCTAGATGCTGTCCACTTCCTG TATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATG CTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTATC TGTTTTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGT CCACTTCCTGTATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTC TTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCAC TTGCTGTATCTGTTTTCCTAGATGCTGTCCACTTGCTGTATCTGTTTTCC TAGATGCTGTCCACTTCCTGTATCTTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024566	G G	GGAAGATA others(346): Show GGAAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATACAGCAAGTGG ACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATCTAGGAAGGGA GATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGCAAGTGGACAG CATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATA CAGGAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATC TAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGC AAGTGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGG AAGA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01243.hp2 HG02145.hp2 others(4): Show HG00741.hp2 HG01243.hp2 HG02145.hp2 HG02486.hp2 HG02886.hp2 NA19030.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0002c0016	a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 others(2): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0016t0001	a0001c0001t0001g0003 a0002c0003t0001g0108 a0002c0003t0002g0145 others(4): Show a0001c0001t0001g0003 a0002c0003t0001g0108 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0119 a0002c0004t0001g0126 a0002c0016t0001g0097	7	150	0.0467	353	c.532 others(372): Show c.532-94630_532-94629insTCTTCCTAGATGCTGTCCACTTCCTG TATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATG CTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTATC TGTTTTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGT CCACTTCCTGTATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTC TTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCAC TTGCTGTATCTGTTTTCCTAGATGCTGTCCACTTGCTGTATCTCCCTTCC TAGATGCTGTCCACTTCCTGTATCTTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246024916	G G	GAGAGATA others(346): Show GAGAGATACAGGAAGTGGACAGCATCTAGGAAGGGAGATACAGGAAGTGG ACAGCATCTAGGAAGACAGATACAGCAAGTGGACAGCATCTAGGAAGGAA GATACAGGAAGTGGACAGCATCTAGGAAGAGAGATACAGGAAGTGGACAG CATCTAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGAGAGATA TAGCAAGTGGACAGCATCTAGGAAAACAGATACAGCAAGTGGACAGCATC TAGGAAGGGAGATACAGGAAGTGGACAGCATCTAGGAAGACAGATACAGC AAGTGGACAGCATCTAGGAAGGAAGATACAGGAAGTGGACAGCATCTAGG AAGA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0001 a0003c0010t0001	a0003c0010t0001g0031 a0003c0010t0001g0031	1	150	0.0067	353	c.532 others(372): Show c.532-94980_532-94979insTCTTCCTAGATGCTGTCCACTTCCTG TATCTTCCTTCCTAGATGCTGTCCACTTGCTGTATCTGTCTTCCTAGATG CTGTCCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTGCTGTATC TGTTTTCCTAGATGCTGTCCACTTGCTATATCTCTCTTCCTAGATGCTGT CCACTTCCTGTATCTCCCTTCCTAGATGCTGTCCACTTCCTGTATCTCTC TTCCTAGATGCTGTCCACTTCCTGTATCTTCCTTCCTAGATGCTGTCCAC TTGCTGTATCTGTCTTCCTAGATGCTGTCCACTTCCTGTATCTCCCTTCC TAGATGCTGTCCACTTCCTGTATCTCT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNX10_chr7_26286862_26379383	26311855	T T	TAAGATTT others(346): Show TAAGATTTTCACGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0181 a0001c0001t0002g0181	1	390	0.0026	353	c.-24 others(372): Show c.-24+19783_-24+19784insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAGATTTTCACGCA	SNX10	ENSG00000086300.17	transcript	ENST00000338523.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
SOX11_chr2_5687384_5706385	5706089	A A	AGAGGAGC others(346): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGA GCAGGGAGACTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCTGGG AGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCT GGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTG GAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAG CAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGA GACTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGG GGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	434	0.0023	353	c.12 others(366): Show c.12042_*12043insGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGACT GGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGT AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGA GCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGG AGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCTGGGAGGCTG GGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGGCTGGGGTGG AGGAGCAGGGAGGCTGGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4705		chr2	TogoVar
SOX11_chr2_5687384_5706385	5706089	A A	AGAGGAGC others(346): Show AGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGGGAGGCTGGGGTAGAGGA GCAGGGAGACTGGGGTAGAGGAGCAGGGAGACTGGGGTGGAGGAGCTGGG AGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGTAGAGGAGCAGGGAGGCT GGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGACTGGGGTG GAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAG CTGGGAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGA GGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGG GGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0000 a0001c0001t0003g0000	1	434	0.0023	353	c.12 others(366): Show c.12042_*12043insGAGGAGCAGGGAGGCTGGGGTAGAGGAGCAGG GAGGCTGGGGTAGAGGAGCAGGGAGACTGGGGTAGAGGAGCAGGGAGACT GGGGTGGAGGAGCTGGGAGGCCAGGGTGGAGGAGTTGAGGAGGCTGGGGT AGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGGAGGA GCAGGGAGACTGGGGTGGAGGAGCAGGGAGACTGGGGTGGAGGAGCAGGG AGGCTGGGGTGGAGGAGCTGGGAGGCTGGGGTAGAGGAGCAGGGAGACTG GGGTAGAGGAGCAGGGAGGCTGGGGTGGAGGAGCAGGGAGGCTGGGGTGG AGGAGCAGGGAGGCTGGGGTG	SOX11	ENSG00000176887.7	transcript	ENST00000322002.5	protein_coding		4705		chr2	TogoVar
SPIRE2_chr16_89823475_89876319	89852455	A A	ACCAGATC others(346): Show ACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCC TGGCCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCT TCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCA TCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCA CCCC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	356	0.0028	353	c.646 others(370): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCTCTCAC CCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCC CATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATC TTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCC CCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCCC CATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATG GCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRBD1_chr2_45383680_45616267	45587092	T T	TTAAATTA others(346): Show TTAAATTATAAATATTAAAATATTTAAAATTATTTTAAATTATAAATATT AAAATATTTAAAATTATTTTAAAATATAATTATTAAAATATTTAAAATTA TTTTAAATATTTAATTATTTTAAATTATAAATATTAAAATATTTAAAATT ATTTTAAATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAATT ATTAAAATATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATT AAAATATTTAAAAATTTTTAAATATTTATTTTAAAATATAATTATTAAAA TATTTAAAATTATTTTAAATATTTATTTTAAATTATAAATATTAAAATAT TTAA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01255.hp1 HG00735.hp2 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0337 a0002c0002t0001g0339 a0002c0002t0001g0337 a0002c0002t0001g0339	2	358	0.0056	353	c.649 others(370): Show c.649-1319_649-1318insTTAAATATTTTAATATTTATAATTTAAA ATAAATATTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATA AATATTTAAAAATTTTTAAATATTTTAATATTTATAATTTAAAATAAATA TTTAAAATAATTTTAAATATTTTAATAATTATATTTTAAAATAATTTTAA ATATTTTAATATTTATAATTTAAAATAATTTTAAATATTTTAATATTTAT AATTTAAAATAATTAAATATTTAAAATAATTTTAAATATTTTAATAATTA TATTTTAAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTT TAAATATTTTAATATTTATAATTTA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRP54_chr14_34977992_35034567	35009343	G G	GCCACACA others(346): Show GCCACACACATATTCTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTGATCCGC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0207 a0001c0001t0003g0207	1	396	0.0025	353	c.485 others(368): Show c.485+522_485+523insATTCTTTGTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGACTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCCACACACAT	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGT others(346): Show GGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGG GTGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAG GTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0035 a0001c0001t0031g0035	1	408	0.0025	353	c.-19 others(364): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTC CCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCACCTCCC TCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCCG GGCGGGGGGCTGACCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(346): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCGCC TGGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGCC AGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACT GGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAG GTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19054.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0101 a0001c0001t0041g0101	1	408	0.0025	353	c.-19 others(364): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCTC CCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGTC others(346): Show GGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGG TGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCT GGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTCAGCCCCCCGCCCGGCCA GCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGCCCGGCCGCCCCTACTG GGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGG TGGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGG AGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0017 a0001c0001t0030g0017	1	408	0.0025	353	c.-19 others(364): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCT CCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCCCACCTCC CTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGGTGGCTGGCC GGGCGGGGGGCTGACCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SULT1B1_chr4_69716167_69765620	69762448	G G	GGAGCCCC others(346): Show GGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGG GGGTCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGGGGGGGGTC AGCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTGAGGGGTGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCTCCTACTGGGAA GTGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0034 a0001c0001t0012g0034	1	408	0.0025	353	c.-20 others(364): Show c.-2035_-2034insTCACTTCCCAGTAGGAGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC CCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCAC TTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTCACCTCCCGGACGGGG TGGCTGGCCGGGCGGGGGCTGACCCCCCCCCCTCCCGGATGGGGCGGCTG GCCAGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCCTGGACGGGGCGGC TGGCCGGGCAGAGGGGCTC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1829		chr4	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TGTGTGTA others(346): Show TGTGTGTATATACATATACACACATATGTGTGTATATACATATACACACA TATGTGTGTATATACATATACACACATATGTGTGTATATACATATATACA TATATACATATATACATATATACACATATGTGTACATATGTGTATATATA CATATATACACATATATATGTATATATACACATATGTGAATATATATGTG TTATATATACACATATGTGTATATGTATATATGTATATATACACATATGT GTATATATACATATATACATATACACATATGTGTATATATAACACATATA TATACACATATGTGTATATATACATATATACATATACACATATGTGTATA TATA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0271 a0001c0001t0003g0271	1	376	0.0027	353	c.158 others(372): Show c.1582-2869_1582-2868insGTGTGTATATACATATACACACATAT GTGTGTATATACATATACACACATATGTGTGTATATACATATACACACAT ATGTGTGTATATACATATATACATATATACATATATACATATATACACAT ATGTGTACATATGTGTATATATACATATATACACATATATATGTATATAT ACACATATGTGAATATATATGTGTTATATATACACATATGTGTATATGTA TATATGTATATATACACATATGTGTATATATACATATATACATATACACA TATGTGTATATATAACACATATATATACACATATGTGTATATATACATAT ATACATATACACATATGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYN2_chr3_11999388_12197032	12095549	A A	AAAAAAAA others(346): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCA CTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCAT CCTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAA AAAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCCGCTACTCGGG AGGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCAGTGA GCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACTCCG TCTC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	264	0.0038	353	c.378 others(372): Show c.378-45078_378-45077insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAACATTGGCCGGGCACGGTGGCTTACGCCTGTAATCCCAGCAC TTTGGGAGGCCAAGGCAGGCGGATCACGAGGTCAGGAGATCAAGACCATC CTGGCTAACATGGTGAAACCCCATCTCTACTGAATATTAAAAAAAAAAAA AAAAAAAGCCGGGCGTTGTGGCAGGTGCCTGTAGTCCCCGCTACTCGGGA GGCTGAGGCAGGAGAATGATGTGAACCCGGGAGGTGGAGCTTGCAGTGAG CCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACGCAGCAAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAA	SYN2	ENSG00000157152.17	transcript	ENST00000621198.5	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYTL2_chr11_85689229_85816141	85801246	A A	ACCTTAAA others(346): Show ACCTTAAACTCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCTTGACCTCATGATCCA CCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGC CCGG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	366	0.0027	353	c.-39 others(372): Show c.-390+9707_-390+9708insCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAAGAGATC GAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAATTGAGTTTAAGG	SYTL2	ENSG00000137501.18	transcript	ENST00000359152.10	protein_coding	1/19			chr11	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(346): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGCTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCG TGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGG GGAG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02896.hp1 HG02965.hp1 others(1): Show HG02615.hp1 HG02896.hp1 HG02965.hp1 HG03130.hp2	a0001 a0010 a0001 a0010	a0001c0003 a0010c0019 a0001c0003 a0010c0019	a0001c0003t0001 a0010c0019t0001 a0001c0003t0001 a0010c0019t0001	a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0121 others(1): Show a0001c0003t0001g0118 a0001c0003t0001g0119 a0001c0003t0001g0121 a0010c0019t0001g0010	4	314	0.0127	353	c.309 others(372): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCCCCCACGCCCTCCCT CCCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCGC CCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCCC CCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTC CCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCAC CACAGCCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCC CTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(346): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGCG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGAGGGGGAGGGAGGGTGTGGGGGGAGGGAGAGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGG GGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18979.hp2 HG03834.hp2 NA18979.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0016 a0001c0001 a0007c0016	a0001c0001t0001 a0007c0016t0001 a0001c0001t0001 a0007c0016t0001	a0001c0001t0001g0171 a0007c0016t0001g0303 a0001c0001t0001g0171 a0007c0016t0001g0303	2	314	0.0064	353	c.309 others(372): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCTCTC CCTCCCCCCACACCCTCCCTCCCCCTCCACGCCCTCCCTCCCCCCCGCCG CCCCCTCCCTCCCCCCACGCCCTCCATCCGCCTGCTGCACCCTCCCTCCC CCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTC CCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCAC CACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCC CTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(346): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGGG GATGGAGGGCGTGGGGGGAGGGACGGGGCGGCGGGGGGGAGGGAGGGCGT GGGGGGGGAGGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGG GGAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0026 a0001c0026	a0001c0026t0001 a0001c0026t0001	a0001c0026t0001g0204 a0001c0026t0001g0204	1	314	0.0032	353	c.309 others(372): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCG CCCCGTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCC CCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTC CCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCAC CACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCC CTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(346): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGTTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGAGGGAGGGTGCAGCAGGGG GATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGAGGGAGGGCGT GGGGGGGGAGGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGAGGAGGGA GGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGCGGCGGGG GGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 NA19030.hp1 HG02896.hp2 HG02897.hp2 NA19030.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0005 a0004c0009t0001g0007 a0004c0009t0001g0008 a0004c0009t0001g0005 a0004c0009t0001g0007 a0004c0009t0001g0008	3	314	0.0096	353	c.309 others(372): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCTCCCTCCCC CCATGCCCTCCCTCCTCCCGCCGCCCCCTCCCTCCTCCCGCCGCCCCCTC CCTCCCCCCACGCCCTCCCTCCCCCCCCACGCCCTCCCTCCCCCCCGCCG CCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCCTCCC CCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCCCCCTC CCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCCCCCAC CACAACCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCCCTCCC CTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(346): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 NA18957.hp2 others(6): Show HG00408.hp2 HG00621.hp1 NA18957.hp2 NA18992.hp2 NA18995.hp2 NA19004.hp1 NA19057.hp2 NA19085.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0040 a0001c0001t0001g0232 a0001c0001t0001g0241 others(6): Show a0001c0001t0001g0040 a0001c0001t0001g0232 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0252 a0001c0001t0001g0256 a0001c0001t0001g0262 a0001c0001t0002g0025 a0001c0001t0004g0032	9	316	0.0285	353	c.131 others(372): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCC CAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCC TGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGA TCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TASP1_chr20_13384394_13643932	13442642	T T	TAAAAACA others(346): Show TAAAAACAAACAAACAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	290	0.0035	353	c.986 others(370): Show c.986-7489_986-7488insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCTGTTTGTTTGTTTTT	TASP1	ENSG00000089123.16	transcript	ENST00000337743.9	protein_coding	11/13			chr20	TogoVar
TCEAL3_chrX_103602963_103614927	103614256	T T	TAAAAATA others(346): Show TAAAAATAAGAACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	290	0.0035	353	c.45 others(364): Show c.4589_*4590insAAAAATAAGAACAGGGCCGGGCGCGGTGGCTCAC GCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTC AGGAGATCGAGACCATCCTGGCTAACAAGGGGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCACGGTGGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTT GCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCTGGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAA	TCEAL3	ENSG00000196507.11	transcript	ENST00000372627.10	protein_coding		4330		chrX	TogoVar
TET3_chr2_73979910_74113176	74061224	T T	TGGCTGGC others(346): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGC GGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0023 a0001c0002t0023	a0001c0002t0023g0220 a0001c0002t0023g0220	1	252	0.0040	353	c.249 others(374): Show c.2495-12187_2495-12186insCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCCACCTCCT TCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061224	T T	TGGCTGGC others(346): Show TGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGC GGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGAC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGAC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02615.hp2 HG02970.hp2 HG02257.hp2 HG02615.hp2 HG02970.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0020 a0001c0002t0038 a0001c0002t0001 a0001c0002t0020 a0001c0002t0038	a0001c0002t0001g0183 a0001c0002t0020g0184 a0001c0002t0038g0185 a0001c0002t0001g0183 a0001c0002t0020g0184 a0001c0002t0038g0185	3	252	0.0119	353	c.249 others(374): Show c.2495-12187_2495-12186insCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCCCCACCTCCT TCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCGGCTGGCCAG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCGGACGGGGCGGCTGGCCGGG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061373	A A	ACCCCCCC others(346): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGAACGGGGCGGCTGGCAGGGCGGGGGACTGAC CCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGG GGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGAC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0179 a0002c0005t0002g0179	1	252	0.0040	353	c.249 others(374): Show c.2495-12108_2495-12107insAACGGGGCGGCTGGCAGGGCGGGG GACTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCC CGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCG	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061461	C C	CGGGGGAC others(346): Show CGGGGGACTGACCCCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGC AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACTT CCCTCCCGGATGGGGCGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCA GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAG GGCG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0203 a0001c0003t0013g0203	1	252	0.0040	353	c.249 others(374): Show c.2495-11941_2495-11940insTTCCCTCCCGGATGGGGCGGCTGG CCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGACTGACCCCCCCA CCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCC CAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCCAC	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TET3_chr2_73979910_74113176	74061577	G G	GGCTGGCC others(346): Show GGCTGGCCGGGCGGGGGGCTGACCCCCCCACTTCCCTCCCGGATGGGGCG GCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACC CCCCCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	252	0.0040	353	c.249 others(374): Show c.2495-11944_2495-11943insACTTCCCTCCCGGATGGGGCGGCT GGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGGCTGACCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCAGGGCGGGGGACTGACCCCC CCACCTCCTTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACT TCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGC AGCTGGCCGGGCGGGGGGCTGACCCCCCC	TET3	ENSG00000187605.16	transcript	ENST00000409262.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TEX50_chr1_173630338_173642130	173640516	A A	AAAGAAAG others(346): Show AAAGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0001 a0001c0001t0003g0001	1	404	0.0025	353	c.34 others(364): Show c.3480_*3481insAAGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCA AGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCC	TEX50	ENSG00000232113.3	transcript	ENST00000417563.3	protein_coding		3387		chr1	TogoVar
TGFBR3_chr1_91675343_91891151	91846718	T T	TTTTACTA others(346): Show TTTTACTATATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0011 a0001c0005t0011	a0001c0005t0011g0144 a0001c0005t0011g0144	1	284	0.0035	353	c.61+ others(370): Show c.61+14752_61+14753insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAGATATAGTAAA	TGFBR3	ENSG00000069702.11	transcript	ENST00000212355.9	protein_coding	2/16			chr1	TogoVar
THNSL2_chr2_88165346_88191627	88181113	T T	TCTCTCTC others(346): Show TCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCCTCTCCTCTC TCCTCTCTCTCTCTCTCTCTCCTCTCTCTTCCTCTCTCTCTCCTCTCCTC TCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCCTCTCTC TCTC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0001 a0001c0003t0003g0001	1	54	0.0185	353	c.803 others(370): Show c.803-1579_803-1578insCTCTCTCTCTCCTCTCTCCTCTCTCTCT CCTCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTCCTC TCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCT CTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTC TCTCCTCTCCTCTCTCCTCTCTCTCTCTCTCTCTCCTCTCTCTTCCTCTC TCTCTCCTCTCCTCTCTCCTCTCTCTTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTC CTCTCTCCTCTCTCTCTCCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161903	A A	ACACCCCT others(346): Show ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCC TGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCGGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGT CCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCCCTGTC CCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	388	0.0026	353	c.23 others(364): Show c.2329_*2330insCGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGT GGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTG	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2025		chr11	TogoVar
TM4SF19_chr3_196318547_196343388	196335076	A A	ACTGGGAG others(346): Show ACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGG GTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAG GGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGGTGCACTGGGAGG GTGGGTGTAGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTAGGAGA AGGGAGGGGTGCACTGGGAGGGTGGGTGTAGGAGAGGGAAGGGATGCCCT GAGAAGGTGGGGGTTAGGAGAAGGGAGGGGTGCACTGGGAGGGTGGGTGT AGGAGAGGGAAGGGATGCCCTGAGAAGGTGGGGGTTGGAGAGGGGAGGGG TGCT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	370	0.0027	353	c.-2+ others(368): Show c.-2+3187_-2+3188insAGCACCCCTCCCCTCTCCAACCCCCACCTT CTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTC CCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACC CACCCTCCCAGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGC ATCCCTTCCCTCTCCTACACCCACCCTCCCAGTGCACCCCTCCCCTCTCC AACCCCCACCTTCTCAGGGCATCCCTTCCCTCTCCTACACCCACCCTCCC AGTGCACCCCTCCCTTCTCCTAACCCCCACCTTCTCAGGGCATCCCTTCC CTCTCCTACACCCACCCTCCCAG	TM4SF19	ENSG00000145107.16	transcript	ENST00000273695.4	protein_coding	1/4			chr3	TogoVar
TMEM14A_chr6_52666113_52691588	52672314	C C	CAAGAGAA others(346): Show CAAGAGAAGATCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	426	0.0024	353	c.-17 others(370): Show c.-17+1085_-17+1086insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAA ATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAGAAGATCGCAGG	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMPRSS9_chr19_2355265_2431261	2419018	C C	CCCTCCCT others(346): Show CCCTCCCTCCCTTTCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTC CCTTTCCTTTCCTCCCTCCCTCCCTTTCCTTCCCTCTCCTCCCTCTCCTT CCTCTCTCCCTCTCCTCCCTCCCTTCCCTCTCCTCCCTCCCTTTCCTTCC CTTCCCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCTGTTTCCTTTCCTCT CTCCCTTTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCGCC CTCTCCTTCCCTTCCCTCCCGCCCTCGTCCTTCCCTCCCGCCCTCTCCTT CCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCACCGTCTCCTTCCCT CCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0031 a0009c0031	a0009c0031t0003 a0009c0031t0003	a0009c0031t0003g0110 a0009c0031t0003g0110	1	114	0.0088	353	c.215 others(370): Show c.2154+882_2154+883insTCCCTCCCTTTCCTTTCCTTCCCTCCCT CCCTTTCCTTCCCTCCCTCCCTTTCCTTTCCTCCCTCCCTCCCTTTCCTT CCCTCTCCTCCCTCTCCTTCCTCTCTCCCTCTCCTCCCTCCCTTCCCTCT CCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCCTTCCCTTCCCTC CCTCTGTTTCCTTTCCTCTCTCCCTTTCCTTCCCTTCCCTCCCTCCCTCT CCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCGTCCT TCCCTCCCGCCCTCTCCTTCCCTTCCCTCCCGCCCTCTCCTTCCCTTCCC TCCCACCGTCTCCTTCCCTCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar

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