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
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(176): Show GGAGGAGGGAGGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGG GGAGGAGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAA GGAGAAGAAGGAGAAGAGGAAGAGGAAGAAGAGGAAGAGGAAGAGGAAGG AGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0157 a0001c0003t0004g0157	1	396	0.0025	183	c.807 others(200): Show c.807-1376_807-1375insTTCTCCTCCTCCTTCTCCTCCTCCTCCT TCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTCCTTC TTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCCCCTCCC TCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTCCCTCCCTCCTCCTCCC TCCTC	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RTP5_chr2_241864729_241878823	241878010	C C	CCTGGCCG others(176): Show CCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCG GCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCC CCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACC CCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	183	c.47 others(194): Show c.4736_*4737insCTGGCCGCCCCCCAACCCCATCCCTCTCCTCGCT CCCCTCCCTCTCCCGGCCCCCCCACCCCCATCCCTCTCCTCGCTCCCCTC CCTCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCC TGGCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4188		chr2	TogoVar
SARDH_chr9_133658560_133743352	133669075	C C	CCCTCACC others(176): Show CCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTC CCTCACCCTCCCTCTCCCCTTACCCTCCCTCTTCCCTTACCCTCCCCCTC CCTCTCCCTCACCTTCCCTCTCCCCTACCCTCCCTCTCCTCACCCTCCTC TCCCTCACCCTCCATCTCCCCTCACCCTCCCTCT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0003 a0002c0034t0003	a0002c0034t0003g0060 a0002c0034t0003g0060	1	262	0.0038	183	c.249 others(202): Show c.2495+1508_2495+1509insAGAGGGAGGGTGAGGGGAGATGGAGG GTGAGGGAGAGGAGGGTGAGGAGAGGGAGGGTAGGGGAGAGGGAAGGTGA GGGAGAGGGAGGGGGAGGGTAAGGGAAGAGGGAGGGTAAGGGGAGAGGGA GGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAG GGTGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SBNO2_chr19_1102638_1179268	1161163	G G	GTGGGGGT others(176): Show GTGGGGGTGCCTGAGTACTGGGTACTGGGGGTAGGGGTGCCTGAGCACTG GGGGTGGGGGTGCCTGAGCACTGGAGATGGAGGTAGGGGTGCCTGAGTAC TGGGGGTGGGGGTGCCTGAGTACTGGGTACTGGGGGCGCCTGAGTACTGA GTACTGGGGGTGGGGGTGCCTGAGTACTGGGTAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0015 a0001c0033t0001g0015	1	203	0.0049	183	c.-12 others(202): Show c.-126-6762_-126-6761insGTACCCAGTACTCAGGCACCCCCACC CCCAGTACTCAGTACTCAGGCGCCCCCAGTACCCAGTACTCAGGCACCCC CACCCCCAGTACTCAGGCACCCCTACCTCCATCTCCAGTGCTCAGGCACC CCCACCCCCAGTGCTCAGGCACCCCTACCCCCAGTACCCAGTACTCAGGC ACCCCCA	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SCGB2A2_chr11_62265158_62278160	62277890	C C	CCCTCTCC others(176): Show CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	390	0.0026	183	c.48 others(194): Show c.4895_*4896insCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4731		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(176): Show TTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGT TGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp2 HG02723.hp1 others(5): Show HG01884.hp1 HG01884.hp2 HG02723.hp1 HG02886.hp1 HG02970.hp2 HG02976.hp1 HG03540.hp2 NA19043.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0115 others(5): Show a0002c0003t0004g0113 a0002c0003t0004g0114 a0002c0003t0004g0115 a0002c0003t0004g0116 a0002c0003t0004g0117 a0002c0003t0004g0118 a0002c0003t0004g0119 a0002c0003t0004g0120	8	290	0.0276	183	c.464 others(196): Show c.464+91_464+92insTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGT GGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGG GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGGG GGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG G	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(176): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGG GTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03704.hp2 NA18954.hp1 NA18983.hp1 others(2): Show HG03704.hp2 NA18954.hp1 NA18983.hp1 NA19072.hp2 NA19079.hp1	a0002 a0009 a0044 a0002 a0009 a0044	a0002c0002 a0009c0013 a0044c0025 a0002c0002 a0009c0013 a0044c0025	a0002c0002t0001 a0009c0013t0001 a0044c0025t0005 a0002c0002t0001 a0009c0013t0001 a0044c0025t0005	a0002c0002t0001g0077 a0002c0002t0001g0096 a0002c0002t0001g0108 others(2): Show a0002c0002t0001g0077 a0002c0002t0001g0096 a0002c0002t0001g0108 a0009c0013t0001g0078 a0044c0025t0005g0002	5	290	0.0172	183	c.464 others(196): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGG GTGGGGTGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTG GGGGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGG G	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(176): Show TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0189 a0001c0003t0001g0189	1	324	0.0031	183	c.115 others(200): Show c.115-2620_115-2619insGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATGGAATATATATATATATGGAATATATATA TATATGGAATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA5A_chr5_9030033_9551075	9353339	A A	AAAGGAAA others(176): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGG AAGGGAAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAA GGGAAGGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01257.hp2 NA18970.hp2 others(1): Show HG00140.hp1 HG01257.hp2 NA18970.hp2 NA19012.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0002t0009 a0001c0003t0041 others(1): Show a0001c0002t0001 a0001c0002t0009 a0001c0003t0041 a0001c0005t0001	a0001c0002t0001g0071 a0001c0002t0009g0002 a0001c0003t0041g0016 others(1): Show a0001c0002t0001g0071 a0001c0002t0009g0002 a0001c0003t0041g0016 a0001c0005t0001g0054	4	134	0.0299	183	c.125 others(202): Show c.125-15528_125-15527insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTTCCCTT CCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTGCTTCC CTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(176): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGG AAGGGAAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAA GGGAAGGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG04115.hp1 NA19012.hp2 HG04115.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0005 a0001c0001t0001 a0001c0004t0005	a0001c0001t0001g0043 a0001c0004t0005g0044 a0001c0001t0001g0043 a0001c0004t0005g0044	2	134	0.0149	183	c.125 others(202): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTTCATTT CCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTCCTTTG CTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(176): Show AAAGGAAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGG AAGCAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0017 a0001c0001t0023g0017	1	134	0.0075	183	c.125 others(202): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCCTTTCC TTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353344	A A	AAAGGAAA others(176): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAA GGGAAATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0046 a0001c0008t0001g0046	1	134	0.0075	183	c.125 others(202): Show c.125-15533_125-15532insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTTCCTTT CATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTCCTTTC CTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCC TTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353349	A A	AAAGGAAA others(176): Show AAAGGAAAGGAAAGGAAAGGAAGGAAAGGGAAGGGAAGGGAAGGGAAGCA AAGGAAAGGAAAGGAAAGGAGGGAAAGGAAGGGAAGGGAAGGGAAGGGAA ATGAAAGGAAATGAAAGGAAAGGAAAGGGAAGGAAAGGAAAGGAAAGGAA AGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	134	0.0075	183	c.125 others(202): Show c.125-15538_125-15537insCCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTCCCTTTCCTTTCCTTTCATTT CCTTTCATTTCCCTTCCCTTCCCTTCCCTTCCTTTCCCTCCTTTCCTTTC CTTTCCTTTGCTTCCCTTCCCTTCCCTTCCCTTTCCTTCCTTTCCTTTCC TTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(176): Show TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG03710.hp2 HG01993.hp1 HG03710.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0318 a0006c0008t0001g0319 a0006c0008t0001g0318 a0006c0008t0001g0319	2	322	0.0062	183	c.154 others(200): Show c.1545-239_1545-238insTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCA GTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTAT TTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(176): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCCTCCCCTTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCC TTCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCCTCCCCCTTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0121 a0001c0001t0034g0121	1	214	0.0047	183	c.691 others(202): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCTTCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCCTTCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCTTCCCTTCCCTTCCCTT CCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(176): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0156 a0001c0001t0033g0156	1	214	0.0047	183	c.691 others(202): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCT CCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCTTCCCTTCCCTTCCCTT CCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(176): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0095 a0004c0007t0095	a0004c0007t0095g0104 a0004c0007t0095g0104	1	214	0.0047	183	c.691 others(202): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTT CCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(176): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0092 a0001c0001t0092	a0001c0001t0092g0144 a0001c0001t0092g0144	1	214	0.0047	183	c.691 others(202): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(176): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0012 a0001c0001t0002g0012	1	214	0.0047	183	c.691 others(202): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTT CCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(176): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0117 a0001c0002t0003g0117	1	386	0.0026	183	c.563 others(200): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA AGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(176): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03209.hp2 HG06807.hp2 others(1): Show HG02717.hp1 HG03209.hp2 HG06807.hp2 NA19030.hp1	a0002 a0003 a0002 a0003	a0002c0003 a0003c0006 a0002c0003 a0003c0006	a0002c0003t0006 a0002c0003t0014 a0003c0006t0006 a0002c0003t0006 a0002c0003t0014 a0003c0006t0006	a0002c0003t0006g0059 a0002c0003t0006g0061 a0002c0003t0014g0144 others(1): Show a0002c0003t0006g0059 a0002c0003t0006g0061 a0002c0003t0014g0144 a0003c0006t0006g0143	4	386	0.0104	183	c.563 others(200): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAA AGGTC	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC66A2_chr18_79897420_79956653	79952560	C C	CGCGCGGG others(176): Show CGCGCGGGTGAAGAGTGAGGGGAGCGCGGGTGAAGTGTGAGGGGAGCGCG GGTGAGGGGTGAGGGGCGCGCGGGTGAGGGGTGAGGGGCGCGCGGGTGAG GGGTGAGGGGTGAGGGGCGCGCGAGTGAAGAGTGAGGGGAGCGTGGGTGA GGGGTGAGGGGAGCGCGGGTGAAGAGTGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0210 a0001c0001t0007g0211 a0001c0001t0007g0210 a0001c0001t0007g0211	2	352	0.0057	183	c.-10 others(194): Show c.-1080_-1079insTCCCCTCACTCTTCACCCGCGCTCCCCTCACCCC TCACCCACGCTCCCCTCACTCTTCACTCGCGCGCCCCTCACCCCTCACCC CTCACCCGCGCGCCCCTCACCCCTCACCCGCGCGCCCCTCACCCCTCACC CGCGCTCCCCTCACACTTCACCCGCGCTCCCCTCACTCTTCACCCGCGC	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding		908		chr18	TogoVar
SLC7A1_chr13_29504414_29600688	29558107	G G	GGGGGGAG others(176): Show GGGGGGAGTGAATCTGAACGAGGGGGGAGTGAATGTGAGTGAGGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAGTGAGGGGGACTGAATCTGAATGGGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0222 a0001c0002t0004g0222	1	330	0.0030	183	c.-11 others(202): Show c.-114-4248_-114-4247insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCCATTCAGATTCAGTCCCCCTCACTCACATTCACTC CCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCGTTCAGATTCA CTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558107	G G	GGGGGGAG others(176): Show GGGGGGAGTGAATCTGAATGAGGGGGGAGTGAATGTGAGTGAGGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAGTGAGGGGGACTGAATCTGAATGGGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp2 HG02004.hp2 others(5): Show HG00438.hp2 HG00558.hp2 HG02004.hp2 HG02132.hp2 NA18612.hp1 NA18941.hp2 NA18995.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0002t0002	a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0152 others(5): Show a0001c0001t0002g0124 a0001c0001t0002g0303 a0001c0001t0003g0152 a0001c0001t0003g0175 a0001c0001t0003g0237 a0001c0001t0003g0305 a0001c0001t0009g0178 a0001c0002t0002g0304	8	330	0.0242	183	c.-11 others(202): Show c.-114-4248_-114-4247insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCCATTCAGATTCAGTCCCCCTCACTCACATTCACTC CCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCATTCAGATTCA CTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLC7A1_chr13_29504414_29600688	29558107	G G	GGGGGGAG others(176): Show GGGGGGAGTGAATGTGAGTGAGGGGGGAGTGAATGTGAGTGAGGGGGGAG TGAATGTGAGTGAGGGGGAGTGAATGTGAGTGAGGGGGAGTGAATGTGAG TGAGGGGGGAGTGAATGTGAGTGAGGGGGACTGAATCTGAATGGGGGGGA GTGAATGTGAGTGAGGGGGAGTGAATGTGAGTGA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02717.hp1 HG03041.hp1 others(2): Show HG02145.hp2 HG02717.hp1 HG03041.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0008 a0001c0012 others(1): Show a0001c0003 a0001c0008 a0001c0012 a0001c0017	a0001c0003t0022 a0001c0008t0017 a0001c0008t0031 others(2): Show a0001c0003t0022 a0001c0008t0017 a0001c0008t0031 a0001c0012t0027 a0001c0017t0006	a0001c0003t0022g0043 a0001c0008t0017g0040 a0001c0008t0031g0039 others(2): Show a0001c0003t0022g0043 a0001c0008t0017g0040 a0001c0008t0031g0039 a0001c0012t0027g0041 a0001c0017t0006g0135	5	330	0.0152	183	c.-11 others(202): Show c.-114-4248_-114-4247insTCACTCACATTCACTCCCCCTCACTC ACATTCACTCCCCCCCATTCAGATTCAGTCCCCCTCACTCACATTCACTC CCCCCTCACTCACATTCACTCCCCCTCACTCACATTCACTCCCCCTCACT CACATTCACTCCCCCCTCACTCACATTCACTCCCCCCTCACTCACATTCA CTCCCCC	SLC7A1	ENSG00000139514.13	transcript	ENST00000380752.10	protein_coding	1/12			chr13	TogoVar
SLCO3A1_chr15_91848708_92170903	92047504	A A	ATATATAA others(176): Show ATATATAAATATATATAACTATATATATAAATATATATATAATATATAAA TATATATATATTTATATATTATATATATTTATATATATTTATATATTATA TATATATTTATATATTTATTTATATATTATATATATTTATATATAATATA TAAATATATATAAATATATATATAATATATAAAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp1 HG02258.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0019 a0001c0009t0001 a0001c0001t0019 a0001c0009t0001	a0001c0001t0019g0068 a0001c0009t0001g0059 a0001c0001t0019g0068 a0001c0009t0001g0059	2	190	0.0105	183	c.647 others(202): Show c.647-47377_647-47376insTATATAAATATATATAACTATATATA TAAATATATATATAATATATAAATATATATATATTTATATATTATATATA TTTATATATATTTATATATTATATATATATTTATATATTTATTTATATAT TATATATATTTATATATAATATATAAATATATATAAATATATATATAATA TATAAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(176): Show TATTATATATTATATATATATTATATATATTATGTATAATATATATTATA TATTATATATATATTATATATAATATATATAATATATATTATATATTATA TATATATTATATATATTATGTATAATATATATTATATATTATATATATTA TATATATTATGTATAATATATATTATATATTTTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0104 a0001c0001t0104	a0001c0001t0104g0215 a0001c0001t0104g0215	1	310	0.0032	183	c.784 others(198): Show c.784+456_784+457insTAAAATATATAATATATATTATACATAATA TATATAATATATATAATATATAATATATATTATACATAATATATATAATA TATATATAATATATAATATATATTATATATATTATATATAATATATATAT AATATATAATATATATTATACATAATATATATAATATATATATAATATAT AAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(176): Show TATTATATATTATATATATATTATATATATTATGTATTATATATTATATA TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATTATATATATATTA TATATATTATGTATAATATATATTATATATTATA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0216 a0001c0001t0015g0216	1	310	0.0032	183	c.784 others(198): Show c.784+456_784+457insTATAATATATAATATATATTATACATAATA TATATAATATATATATAATATATAATATATATTATACATAATATATATAA TATATATATAATATATAATATATATTATACATAATATATATAATATATAT ATAATATATAATATATAATACATAATATATATAATATATATATAATATAT AAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMIM36_chr17_55444856_55516452	55501401	T T	TTATATAT others(176): Show TTATATATTATATTCTATAATATATAATATATTATATATTATAGAATATA ATATATAATATATTATATATTATAGAATATAATATATAATATATTATATA TTATAGAATATAATATATAATATATTATATATTATAGAATATAATATATA ATATATTATATATTATAGAATATAATATATAATA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18979.hp1 NA18747.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0258 a0001c0001t0002g0261 a0001c0001t0002g0258 a0001c0001t0002g0261	2	340	0.0059	183	c.17 others(202): Show c.174+9477_*174+9478insTATTATATATTATATTCTATAATATA TAATATATTATATATTATATTCTATAATATATAATATATTATATATTATA TTCTATAATATATAATATATTATATATTATATTCTATAATATATAATATA TTATATATTATATTCTATAATATATAATATATTATATATTATAGAATATA ATATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501401	T T	TTATATAT others(176): Show TTATATATTATATTCTATAATATATAATATATTATATATTATAGAATATA ATATATAATATATTATATATTATAGAATATAATATATAATATATTATATA TTATAGAATATAATATATAATATATTATATATTATAGAATATAATATATT ATATATTATATATTATAGAATATAATATATTATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0316 a0001c0001t0002g0316	1	340	0.0029	183	c.17 others(202): Show c.174+9477_*174+9478insTATAATATATTATATTCTATAATATA TAATATATAATATATTATATTCTATAATATATAATATATTATATATTATA TTCTATAATATATAATATATTATATATTATATTCTATAATATATAATATA TTATATATTATATTCTATAATATATAATATATTATATATTATAGAATATA ATATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMYD3_chr1_245744347_246512279	246200117	G G	GTCCACTG others(176): Show GTCCACTGTAATAGAGAAGATAGAGGACAGTGTAGACACTGAGCAAGAAT GTACACAGACACCCACTGTGATAGAGAAGATAGAGAACAGTGTAGATGCT GAGCAAGAATGTACACAGATGTCCACTGTGATAGAGAAGATAGAGTAGAA CAGTGTAGATAATGAGCAAGAATGTACAGAGATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0108 a0002c0003t0001g0108	1	150	0.0067	183	c.531 others(204): Show c.531+127083_531+127084insAATCTCTGTACATTCTTGCTCATT ATCTACACTGTTCTACTCTATCTTCTCTATCACAGTGGACATCTGTGTAC ATTCTTGCTCAGCATCTACACTGTTCTCTATCTTCTCTATCACAGTGGGT GTCTGTGTACATTCTTGCTCAGTGTCTACACTGTCCTCTATCTTCTCTAT TACAGTGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246200117	G G	GTCCACTG others(176): Show GTCCACTGTAATAGAGAAGATAGAGGACAGTGTAGACGCTGAGCAAGAAT GTACACAGACACCCACTGTGATAGAGAAGATAGAGAACAGTGTAGATGCT GAGCAAGAATGTACACAGATGTCCACTGTGATAGAGAAGATAGAGGAGAA CAGTGTAGATAATGAGCAAGAATGTACAGAGATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp1 HG00408.hp2 others(74): Show HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp1 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01175.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02071.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02165.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03491.hp2 HG03579.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18747.hp1 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18984.hp2 NA19000.hp2 NA19030.hp1 NA19030.hp2 NA19057.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0005 a0002c0016 a0003c0015 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0002 a0002c0016t0001 a0003c0015t0002 a0004c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(74): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0002g0004 a0001c0001t0002g0014 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0045 a0001c0001t0002g0051 a0001c0001t0002g0057 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0081 a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0041 a0001c0002t0001g0058 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0002g0037 a0001c0002t0002g0078 a0001c0002t0002g0088 a0001c0006t0001g0022 a0001c0006t0001g0025 a0001c0006t0001g0048 a0001c0006t0003g0001 a0002c0003t0001g0096 a0002c0003t0001g0103 a0002c0003t0001g0112 a0002c0003t0001g0133 a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0003t0001g0144 a0002c0003t0002g0095 a0002c0003t0002g0102 a0002c0003t0002g0110 a0002c0003t0002g0130 a0002c0003t0002g0143 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0126 a0002c0004t0001g0127 a0002c0004t0001g0129 a0002c0004t0001g0140 a0002c0004t0002g0139 a0002c0005t0001g0136 a0002c0005t0001g0142 a0002c0005t0001g0146 a0002c0005t0002g0106 a0002c0005t0002g0115 a0002c0005t0002g0118 a0002c0016t0001g0097 a0003c0015t0002g0094 a0004c0010t0001g0031	77	150	0.5133	183	c.531 others(204): Show c.531+127083_531+127084insAATCTCTGTACATTCTTGCTCATT ATCTACACTGTTCTCCTCTATCTTCTCTATCACAGTGGACATCTGTGTAC ATTCTTGCTCAGCATCTACACTGTTCTCTATCTTCTCTATCACAGTGGGT GTCTGTGTACATTCTTGCTCAGCGTCTACACTGTCCTCTATCTTCTCTAT TACAGTGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246200117	G G	GTCCACTG others(176): Show GTCCACTGTAATAGAGAAGATAGAGGACAGTGTAGACGCTGAGCAAGAAT GTACACAGACACCCACTGTGATAGAGAAGATAGAGAACAGTGTAGATGCT GAGCAAGAATGTACACAGATGTCCACTGTGATAGAGAAGATAGAGGAGAA CGGTGTAGATAATGAGCAAGAATGTACAGAGATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02257.hp2 HG02486.hp2 others(7): Show HG01243.hp2 HG02257.hp2 HG02486.hp2 HG02965.hp1 HG02970.hp1 HG03225.hp1 HG03225.hp2 NA18522.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0002c0004 a0001c0006 a0002c0003 a0002c0004	a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 others(1): Show a0001c0006t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001	a0001c0006t0001g0076 a0002c0003t0001g0111 a0002c0003t0002g0114 others(7): Show a0001c0006t0001g0076 a0002c0003t0001g0111 a0002c0003t0002g0114 a0002c0003t0002g0116 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0003t0002g0150 a0002c0004t0001g0113 a0002c0004t0001g0119 a0002c0004t0001g0149	10	150	0.0667	183	c.531 others(204): Show c.531+127083_531+127084insAATCTCTGTACATTCTTGCTCATT ATCTACACCGTTCTCCTCTATCTTCTCTATCACAGTGGACATCTGTGTAC ATTCTTGCTCAGCATCTACACTGTTCTCTATCTTCTCTATCACAGTGGGT GTCTGTGTACATTCTTGCTCAGCGTCTACACTGTCCTCTATCTTCTCTAT TACAGTGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246200117	G G	GTCCACTG others(176): Show GTCCACTGTAATAGAGAAGATAGAGGACAGTGTAGACGCTGAGCAAGAAT GTACACAGACACCCACTGTGATAGAGAAGATAGAGAACAGTGTAGATGCT GAGCAAGAATGTACACAGATGTCCACTGTGATAGAGAAGATAGAGTAGAA CAGTGTAGATAATGAGCAAGAATGTACAGAGATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp1 HG00423.hp2 others(59): Show HG00140.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp2 HG01243.hp1 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02717.hp1 HG02895.hp1 HG02965.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp1 HG03579.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA19000.hp1 NA19057.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0006 others(11): Show a0001c0001 a0001c0002 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0014 a0002c0003 a0002c0004 a0002c0005 a0002c0007 a0002c0008 a0002c0017 a0005c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0009t0001 a0001c0011t0002 a0001c0012t0002 a0001c0014t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001 a0005c0013t0002	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 others(59): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0001t0002g0052 a0001c0001t0002g0060 a0001c0001t0002g0066 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0073 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0070 a0001c0002t0002g0077 a0001c0002t0002g0083 a0001c0002t0002g0084 a0001c0006t0001g0035 a0001c0009t0001g0002 a0001c0011t0002g0049 a0001c0012t0002g0074 a0001c0014t0002g0091 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0105 a0002c0003t0001g0109 a0002c0003t0001g0148 a0002c0003t0002g0104 a0002c0003t0002g0131 a0002c0004t0001g0098 a0002c0004t0001g0121 a0002c0005t0001g0138 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0017t0001g0122 a0005c0013t0002g0072	62	150	0.4133	183	c.531 others(204): Show c.531+127083_531+127084insAATCTCTGTACATTCTTGCTCATT ATCTACACTGTTCTACTCTATCTTCTCTATCACAGTGGACATCTGTGTAC ATTCTTGCTCAGCATCTACACTGTTCTCTATCTTCTCTATCACAGTGGGT GTCTGTGTACATTCTTGCTCAGCGTCTACACTGTCCTCTATCTTCTCTAT TACAGTGGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(176): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCC ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02004.hp1 HG01952.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0011 a0001c0002t0001g0058 a0001c0001t0001g0011 a0001c0002t0001g0058	2	150	0.0133	183	c.165 others(202): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGG CGTTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221697	T T	TAGCTCTG others(176): Show TAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTCTCTC TGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTGTCTC TCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTC TGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0001 a0010c0013t0001	a0010c0013t0001g0132 a0010c0013t0001g0132	1	190	0.0053	183	c.719 others(202): Show c.719+12467_719+12468insAGCTCTGCCTCTGTTAGTCCCTCTCT GTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCTCTGT CTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTCTCTGCCTCTCTCTGTCTCTCTGTCTCTGT CTCTGTA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNX6_chr14_34556093_34635148	34557538	C C	CTTCTTCT others(176): Show CTTCTTCTTCTTCTTCTTCTTCTTCCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	322	0.0031	183	c.55 others(194): Show c.5583_*5584insAAAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAA	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3554		chr14	TogoVar
SORCS2_chr4_7187538_7747827	7449285	T T	TCCTCCCT others(176): Show TCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTTCCTTTCTCTCCC CTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0014 a0001c0001t0009g0014	1	168	0.0060	183	c.548 others(202): Show c.548+52941_548+52942insCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTTCCTCCCTCCCTTCCGTACTTCCTCTCCCCTCCCTCCCTCTTTT CCTTTCTCTCCCCTCCATCCCGCCCTCCCTCCCTTCCTCTTTTCCCTCTC TTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35906586	T T	TCCACCAC others(176): Show TCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCAC CACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA CCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCC GCCACACCCCTCACCACCTCCACCACCACCACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG03453.hp1 HG01255.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	420	0.0048	183	c.-32 others(194): Show c.-3286_-3285insCCACCACCACCACCACCACCCCCGCCACACCCCT CACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCT CCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACC ACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2903		chr9	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(176): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 NA19240.hp1 HG03225.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	2	418	0.0048	183	c.54 others(194): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(176): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCCCTCCTCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18961.hp1 NA18961.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	418	0.0024	183	c.54 others(194): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(176): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCT CCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCC TCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18972.hp2 NA18983.hp1 NA19084.hp2 NA18972.hp2 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	3	418	0.0072	183	c.54 others(194): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SRBD1_chr2_45383680_45616267	45586995	A A	ATTATAAA others(176): Show ATTATAAATATTAAAATATTTAAAATTATTTTAAAATATAATTATTAAAA TATTTAAAATTATTTTAAATATTTAATTATTTTAAATTATAAATATTAAA ATATTTAAAATTATTTTAAATTATAAATATTAAAATATTTAAAATTATTT TAAAATATAATTATTAAAATATTTAAAATTATTT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0096 a0002c0002t0001g0096	1	358	0.0028	183	c.649 others(200): Show c.649-1222_649-1221insAAATAATTTTAAATATTTTAATAATTAT ATTTTAAAATAATTTTAAATATTTTAATATTTATAATTTAAAATAATTTT AAATATTTTAATATTTATAATTTAAAATAATTAAATATTTAAAATAATTT TAAATATTTTAATAATTATATTTTAAAATAATTTTAAATATTTTAATATT TATAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	4/20			chr2	TogoVar
SRL_chr16_4184374_4247080	4211511	G G	GTGATGAT others(176): Show GTGATGATGATGATGATGGTGATGATGATGGTGATGACCGTGCCGATGAT GAGGATCGTGATGATGATGATGATGGTGATGATGGTGATGGTGATGACCG TGCCGATGATGAGGATCGTGATGATGATGATGATGATGGTGATGATGGTG ATGGTGATGACCATGCTAATGATGAGGATCGTGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp2 HG00558.hp2 others(60): Show HG00140.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00673.hp2 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01261.hp1 HG01515.hp1 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG02040.hp1 HG02056.hp1 HG02080.hp2 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02148.hp1 HG02155.hp1 HG02300.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp2 HG02683.hp2 HG02723.hp1 HG03209.hp1 HG03491.hp1 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18972.hp1 NA18973.hp1 NA18980.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19011.hp2 NA19030.hp2 NA19043.hp1 NA19079.hp2 NA19084.hp1 NA19090.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0013 a0001c0001t0015 a0001c0001t0018 a0001c0001t0021 a0001c0001t0024 a0001c0001t0026 a0001c0001t0036 a0001c0002t0003 a0001c0002t0034 a0001c0006t0011	a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0102 others(60): Show a0001c0001t0001g0083 a0001c0001t0001g0091 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0232 a0001c0001t0001g0235 a0001c0001t0001g0249 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0271 a0001c0001t0001g0289 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0321 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0002g0136 a0001c0001t0002g0225 a0001c0001t0002g0331 a0001c0001t0002g0344 a0001c0001t0003g0300 a0001c0001t0004g0073 a0001c0001t0004g0176 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0007g0044 a0001c0001t0013g0350 a0001c0001t0013g0351 a0001c0001t0015g0107 a0001c0001t0018g0082 a0001c0001t0021g0315 a0001c0001t0024g0257 a0001c0001t0026g0288 a0001c0001t0036g0267 a0001c0002t0003g0185 a0001c0002t0003g0200 a0001c0002t0003g0245 a0001c0002t0003g0312 a0001c0002t0003g0330 a0001c0002t0034g0303 a0001c0006t0011g0296	63	358	0.1760	183	c.62- others(198): Show c.62-6878_62-6877insTCACGATCCTCATCATTAGCATGGTCATCA CCATCACCATCATCACCATCATCATCATCATCATCACGATCCTCATCATC GGCACGGTCATCACCATCACCATCATCACCATCATCATCATCATCACGAT CCTCATCATCGGCACGGTCATCACCATCATCATCACCATCATCATCATCA TCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SRL_chr16_4184374_4247080	4211511	G G	GTGATGAT others(176): Show GTGATGATGATGATGATGGTGATGATGATGGTGATGACCGTGCTGATGAT GAGGATCGTGATGATGATGATGATGGTGATGATGGTGATGGTGATGACCG TGCCGATGATGAGGATCGTGATGATGATGATGATGATGGTGATGATGGTG ATGGTGATGACCATGCTAATGATGAGGATCGTGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0244 a0001c0001t0004g0244	1	358	0.0028	183	c.62- others(198): Show c.62-6878_62-6877insTCACGATCCTCATCATTAGCATGGTCATCA CCATCACCATCATCACCATCATCATCATCATCATCACGATCCTCATCATC GGCACGGTCATCACCATCACCATCATCACCATCATCATCATCATCACGAT CCTCATCATCAGCACGGTCATCACCATCATCATCACCATCATCATCATCA TCA	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5			chr16	TogoVar
SULT1B1_chr4_69716167_69765620	69762362	G G	GGGGGGGG others(176): Show GGGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGTG AGGGGCGCCTCTGCCCGGCGGCCCCTACTGGGAAGTGAGGAGCCCCTCTG CCCGGCCAGCCGCCCCGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG02738.hp2 HG00544.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0090 a0001c0001t0002 a0001c0001t0090	a0001c0001t0002g0058 a0001c0001t0090g0254 a0001c0001t0002g0058 a0001c0001t0090g0254	2	408	0.0049	183	c.-19 others(194): Show c.-1949_-1948insACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCCGCCGGGCAGAGGCGCCCCT CACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCC	SULT1B1	ENSG00000173597.9	transcript	ENST00000310613.8	protein_coding		1743		chr4	TogoVar
SUMO3_chr21_44800617_44823062	44817899	G G	GCGGAGCC others(176): Show GCGGAGCCGGGCTGGGGGCGGGGCGCGCCGCCGAGCGCAGCCGGGCGGGG GAGGGGAGCGGCGCGGCCGGACGGGAGCGGGGGAGGGGCGGGGGCGCGGG CGGCGCCGCAGGCCTGGGCGCGGGTCCCCGTGGGCGCCGCCGTCTCCAAG GGCCGCAGGAGCGGCGCGCGGCGGCGGAGGCGCC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0144 a0001c0001t0016g0144	1	406	0.0025	183	c.21+ others(194): Show c.21+48_21+49insGGCGCCTCCGCCGCCGCGCGCCGCTCCTGCGGCC CTTGGAGACGGCGGCGCCCACGGGGACCCGCGCCCAGGCCTGCGGCGCCG CCCGCGCCCCCGCCCCTCCCCCGCTCCCGTCCGGCCGCGCCGCTCCCCTC CCCCGCCCGGCTGCGCTCGGCGGCGCGCCCCGCCCCCAGCCCGGCTCCG	SUMO3	ENSG00000184900.16	transcript	ENST00000332859.11	protein_coding	1/3			chr21	TogoVar
SYK_chr9_90796819_90903549	90884714	C C	CATATGTG others(176): Show CATATGTGTACATACACATATACACATATGTGTGTATATACATATACACA CATATGTGTGTATATACATATATACATATATACATATATACATATATACA CATATGTGTACATATGTGTATATATACATATATACACATATATATGTATA TATACACATATGTGAATATGTATATATGTGTTAT	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18953.hp2 NA18943.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0323 a0001c0001t0001g0324	2	376	0.0053	183	c.158 others(202): Show c.1582-3031_1582-3030insGTGTACATACACATATACACATATGT GTGTATATACATATACACACATATGTGTGTATATACATATATACATATAT ACATATATACATATATACACATATGTGTACATATGTGTATATATACATAT ATACACATATATATGTATATATACACATATGTGAATATGTATATATGTGT TATATAT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT3_chr19_50616977_50644881	50629722	G G	GGGAGTCC others(176): Show GGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCC CCCAGCCCCTCCTCCTTCAGACCCGGGAGTCCAGGACAAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGAA GTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG02451.hp1 others(4): Show HG01256.hp1 HG01258.hp2 HG02451.hp1 HG02896.hp2 HG02897.hp2 HG03130.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0010 a0001c0001 a0001c0008 a0001c0010	a0001c0001t0001 a0001c0008t0001 a0001c0010t0001 a0001c0001t0001 a0001c0008t0001 a0001c0010t0001	a0001c0001t0001g0047 a0001c0008t0001g0160 a0001c0008t0001g0161 others(3): Show a0001c0001t0001g0047 a0001c0008t0001g0160 a0001c0008t0001g0161 a0001c0008t0001g0162 a0001c0008t0001g0163 a0001c0010t0001g0156	7	388	0.0180	183	c.106 others(198): Show c.1062+61_1062+62insTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTTGTCCTGGACTCCCGGGTCTGAAGGAGGAGGGGC TGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar
SYT3_chr19_50616977_50644881	50629722	G G	GGGAGTCC others(176): Show GGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCGGGAGTCCAGGCC CCCAGCCCCTCCTCCTTCAGACCCGGGAGTTCAGGACAAGCCCCTCCTCC CTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCAGACCCAGAA GTCCAGACCCCCAGCCCCTCCTCCCTCAGACCCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	388	0.0026	183	c.106 others(198): Show c.1062+61_1062+62insTGGGTCTGAGGGAGGAGGGGCTGGGGGTCT GGACTTCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTC TGAGGGAGGAGGGGCTTGTCCTGAACTCCCGGGTCTGAAGGAGGAGGGGC TGGGGGCCTGGACTCCCGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGAC TCC	SYT3	ENSG00000213023.11	transcript	ENST00000600079.6	protein_coding	5/10			chr19	TogoVar

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