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
SEL1L2_chr20_13844247_13995614	13934390	T T	TATATATA others(351): Show TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATTCC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0310 a0001c0004t0001g0310	1	324	0.0031	358	c.115 others(375): Show c.115-2620_115-2619insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(351): Show CATATATATATATTCCCTATATATATATTCCATATATATATATTCCCTAT ATATATATTCCATATATATATTCCCTATATATATATTCCATATATATATA TTCCCTATATATATATTCCATATATATATATTCCCTATATATATATTCCC TATATATATATTCCATATATATATATTCCATATATATATTCCATATATAT ATATTCCATATATATATATTTCATATATATATATTCCATATATATATTCC ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATATATATATTCCATATATATATATA TATATATAT	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	324	0.0031	358	c.115 others(375): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATGGAATA TATATATATGAAATATATATATATGGAATATATATATATGGAATATATAT ATGGAATATATATATATGGAATATATATATAGGGAATATATATATAGGGA ATATATATATATGGAATATATATATAGGGAATATATATATATGGAATATA TATATAGGGAATATATATATGGAATATATATATAGGGAATATATATATAT GGAATATATATATAGGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(351): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGA GGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGA GCGAGGGGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01928.hp1 HG02135.hp2 others(4): Show HG00438.hp1 HG01928.hp1 HG02135.hp2 HG02155.hp1 NA18973.hp1 NA19080.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0003t0019 a0001c0004t0022 others(1): Show a0001c0001t0001 a0001c0003t0019 a0001c0004t0022 a0002c0002t0002	a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0249 others(4): Show a0001c0001t0001g0239 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0003t0019g0281 a0001c0004t0022g0248 a0002c0002t0002g0356 a0002c0002t0002g0357	7	370	0.0189	358	c.-30 others(377): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTC CCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERPINF2_chr17_1737871_1760265	1739135	A A	AGCCTGAT others(351): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02818.hp2 HG03486.hp1 HG02622.hp2 HG02818.hp2 HG03486.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0037 a0004c0004t0003g0080 a0004c0004t0003g0037 a0004c0004t0003g0080	3	445	0.0067	358	c.-37 others(369): Show c.-3778_-3777insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAGGCG	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		3735		chr17	TogoVar
SH3D19_chr4_151115281_151330605	151256047	A A	AGAGGGAG others(351): Show AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0133 a0002c0003t0003g0133	1	282	0.0036	358	c.113 others(377): Show c.113-29962_113-29961insCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC	SH3D19	ENSG00000109686.20	transcript	ENST00000604030.7	protein_coding	1/19			chr4	TogoVar
SH3PXD2A_chr10_103589027_103860576	103826534	A A	AGCTTCAG others(351): Show AGCTTCAGATCTACTGAGAAACATGCAGATCCTAGGAGACAGAGGATCCC AGGATTCTGATGGAACTGGCTGTCCATGCTAGAATTTTCCCCCTAGTGAG TGTAATTCCTTCCAGGTCCCGGAGCACATTTTAGAGCCGGGCACTTTGTA ATTCTGGTTAATGTCAGTCATCTCAGCTACTCTGTAACCTCCTTCTCTCC AGGCATGAAATTGTTTGGTTCACACCGTGAATCTTCAGCACCTGATATGG TGTGTGGCACACAGTAGGCACTTAATAAATGCTGGTTGGAAGAGCAAAAG ATCAGATGAGATAAGACTGACATGGCCAGGCTTCAGAAGTGCCCGGCTCT GAGAAATGT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0193 a0003c0007t0001g0193	1	250	0.0040	358	c.73- others(375): Show c.73-25173_73-25172insACATTTCTCAGAGCCGGGCACTTCTGAA GCCTGGCCATGTCAGTCTTATCTCATCTGATCTTTTGCTCTTCCAACCAG CATTTATTAAGTGCCTACTGTGTGCCACACACCATATCAGGTGCTGAAGA TTCACGGTGTGAACCAAACAATTTCATGCCTGGAGAGAAGGAGGTTACAG AGTAGCTGAGATGACTGACATTAACCAGAATTACAAAGTGCCCGGCTCTA AAATGTGCTCCGGGACCTGGAAGGAATTACACTCACTAGGGGGAAAATTC TAGCATGGACAGCCAGTTCCATCAGAATCCTGGGATCCTCTGTCTCCTAG GATCTGCATGTTTCTCAGTAGATCTGAAGC	SH3PXD2A	ENSG00000107957.17	transcript	ENST00000369774.9	protein_coding	1/14			chr10	TogoVar
SIGIRR_chr11_400716_419999	401882	C C	CGCTCACC others(351): Show CGCTCACCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCCCGCTC ACACCCGACCCGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCC CGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCCGGACC CCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCGACCCG CTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACACC CGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACCCCGGCC CCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	242	0.0041	358	c.40 others(369): Show c.4013_*4014insTGTGAGCGGGGCCGGGGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGCG GGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGGT CGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGGG TGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGGT GAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGCG GGTCGGGTGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC CGGGGTGAGCGGGTCGGGGTGAGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3833		chr11	TogoVar
SLC17A5_chr6_73588379_73658992	73632008	T T	TAAGAATG others(351): Show TAAGAATGCAGTCTGGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AAAATTAGCCGGGCGCGGTGGCGGGCGCTTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAG CCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAG ACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp1 HG02280.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0059 a0001c0001t0004g0060	2	324	0.0062	358	c.819 others(375): Show c.819+3373_819+3374insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAAGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCAACCAGACTGCATTCTT	SLC17A5	ENSG00000119899.13	transcript	ENST00000355773.6	protein_coding	6/10			chr6	TogoVar
SLC25A18_chr22_17558498_17595995	17567654	C C	CTATCCTT others(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	410	0.0024	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTATTTTATTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0230 a0001c0001t0003g0231 a0001c0001t0002g0230 a0001c0001t0003g0231	2	410	0.0049	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp1 others(130): Show HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02683.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03540.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19043.hp2 NA19057.hp1 NA19058.hp1 NA19065.hp1 NA19066.hp1 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19076.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0015 a0003c0005t0001	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(126): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0350 a0001c0001t0001g0356 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0379 a0001c0001t0001g0381 a0001c0001t0002g0016 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0187 a0001c0001t0002g0189 a0001c0001t0002g0208 a0001c0001t0002g0215 a0001c0001t0002g0218 a0001c0001t0002g0239 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0264 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0339 a0001c0001t0002g0349 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0353 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0378 a0001c0001t0002g0380 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0385 a0001c0001t0002g0386 a0001c0001t0003g0382 a0001c0001t0004g0277 a0001c0001t0006g0086 a0001c0001t0006g0087 a0001c0001t0006g0342 a0001c0001t0008g0261 a0001c0001t0015g0274 a0003c0005t0001g0246	133	410	0.3244	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	410	0.0024	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	410	0.0024	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTATTTATTTTATT TTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp1 HG02451.hp2 others(4): Show HG01192.hp1 HG02129.hp1 HG02451.hp2 HG02572.hp2 HG03098.hp1 HG03209.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0221 a0001c0001t0001g0296 a0001c0001t0002g0219 others(4): Show a0001c0001t0001g0221 a0001c0001t0001g0296 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295	7	410	0.0171	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTATTT ATTTTATTTTATTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	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(351): Show CTATCCTTGCTTTTATTTATTTATTTATTTATTTATTTTTTTATTTTATT TTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCC GGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACCAC AGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACG GGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATC CACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGC GCCCGGCCT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0297 a0001c0001t0001g0297	1	410	0.0024	358	c.-26 others(377): Show c.-263-2255_-263-2254insTTATTTATTTATTTATTTATTTTTTT ATTTTATTTTATTTTATTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGC TCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTTATCCTTGCTTTTAT	SLC25A18	ENSG00000182902.14	transcript	ENST00000327451.11	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr22	TogoVar
SLC37A3_chr7_140328752_140403530	140387817	A A	ATATATTA others(351): Show ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAAATATAAATATATTATATATATTATATATAAATATAAATATATTATAT ATTATATAAATATAAATATATTATATATTATATAAATATAAATATATTAT ATATTATATATAAATATAAATATATTATATATTATATATAATATAAATAT ATTATATATTATATATAATATAAATATATTATATATATTATATATAATAT AAATATATTAATATATTATATATAATATAAATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATATTATATA TAATATATT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0280 a0002c0002t0002g0280	1	346	0.0029	358	c.-70 others(375): Show c.-70-5222_-70-5221insAATATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TTTATATTATATATAATATATTAATATATTTATATTATATATAATATATA TAATATATTTATATTATATATAATATATAATATATTTATATTATATATAA TATATAATATATTTATATTTATATATAATATATAATATATTTATATTTAT ATAATATATAATATATTTATATTTATATAATATATAATATATTTATATTT ATATATAATATATATAATATATTTATATTTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATA	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC44A5_chr1_75197129_75616114	75280343	A A	AATCTATA others(351): Show AATCTATATATTGTATATATTATATATTGTATATATAATCTATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATT GTATATATAATATATATAGTATATATTATATATTGTATATATAATATATA TATAGTATATATTATATATTGTATATATAATATATATATTGTATATATTA TATATTGTATATATAATATATATATTGTATATATTATATATTGTATATAT AATATATATATTGTATATATTATATATTGTATATATAATATATATATTGT ATATATTATATATTGTATATATAATATATATATTGTATATATTATATATA GTATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0131 a0001c0005t0007g0131	1	156	0.0064	358	c.176 others(375): Show c.176-5302_176-5301insAATATATACTATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATATATTATATA TACAATATATAATATATACAATATATATATTATATATACAATATATAATA TATACAATATATATATTATATATACAATATATAATATATACAATATATAT ATTATATATACAATATATAATATATACTATATATATATTATATATACAAT ATATAATATATACTATATATATTATATATACAATATATAATATATACAAT ATATATATTATATATACAATATATAATATATACAATATATAGATTATATA TACAATATATAATATATACAATATATAGAT	SLC44A5	ENSG00000137968.17	transcript	ENST00000370859.8	protein_coding	5/23			chr1	TogoVar
SLC9A9_chr3_143260222_143853468	143449411	T T	TTATATAA others(351): Show TTATATAATTATATAAAATATAATTATATTATATAATTATATAAAATATA ATTATATTATATAATTATATAAAATATAATTATATTATATAATTATATAA AATATAATTATATTATATAATTATATAAAATATAATTATATTATATAATT ATATAAAATATAATTATATTATATAATTATATAAAATATAATTATATTAT ATAATTATATAAAATAATTATATAAAATATAATAATTATATAATTATATA AAATATAATAATTATATAATTATATAAAATATAATTATATAAAATAATTA TATAAAATATAATTATATAAAATAATTATATAAAATATAATAATTATATA ATTATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	108	0.0093	358	c.146 others(379): Show c.1469+17625_1469+17626insTTATATAATTATATAATTATTATA TTTTATATAATTATTTTATATAATTATATTTTATATAATTATTTTATATA ATTATATTTTATATAATTATATAATTATTATATTTTATATAATTATATAA TTATTATATTTTATATAATTATTTTATATAATTATATAATATAATTATAT TTTATATAATTATATAATATAATTATATTTTATATAATTATATAATATAA TTATATTTTATATAATTATATAATATAATTATATTTTATATAATTATATA ATATAATTATATTTTATATAATTATATAATATAATTATATTTTATATAAT TATATAATATAATTATATTTTATATAATTATATA	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	12/15			chr3	TogoVar
SNRPA1_chr15_101276510_101300248	101282976	C C	CAAGAATG others(351): Show CAAGAATGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCCCG GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	442	0.0023	358	c.710 others(375): Show c.710-1195_710-1194insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCT TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCTGCATTCTT	SNRPA1	ENSG00000131876.18	transcript	ENST00000254193.11	protein_coding	8/8			chr15	TogoVar
SNUPN_chr15_75593086_75630725	75622492	T T	TAAAGAAT others(351): Show TAAAGAATGGGAGTGGGGGTGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAAGCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	344	0.0029	358	c.-5- others(373): Show c.-5-1437_-5-1436insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGCTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCACCCCCACTCCCATTCTTT	SNUPN	ENSG00000169371.14	transcript	ENST00000308588.10	protein_coding	1/8			chr15	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(351): Show TATATATATAATATGTAATATATTATATATATTTATATATATATGTAATA TATTATATATATTTATATATATAATATGTAATATATTATATATTTATATA TATAATATGTAATATATTATATATATTTATATATATAATATGTAATATAT TATATATTTATATATATAATATGTAATATATTATATATATTTATATATAT AATATGTAATATATTATATATATTTATATATATAATATGTAATATATTAT ATATATTTATATATATAATATGTAATATATTATATATAAAAGTATATATA ATATATAATATATTATATATAAAAGCATATATAATATATAATATATTATA TATAAAAGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0015	a0001c0005t0015g0204 a0001c0005t0015g0204	1	356	0.0028	358	c.-11 others(379): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATATGTAATATATTATATATATTTATATATATAATATGTAAT ATATTATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATTTATATATATAATATGTAATATATT ATATATATTTATATATATAATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATAAAAGTATATATAATATATAATATATTATATATAAAAGCATATAT AATATATAATATATTATATATAAAAGCATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852444	T T	TCCCTCTC others(351): Show TCCCTCTCACCCCCCGGATCCCATGGCCCGTCATCCGTCTTCTCTCTCAC CCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATC CCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCG TCTTCCGTC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	356	0.0028	358	c.645 others(375): Show c.645+1785_645+1786insCCTCTCACCCCCCGGATCCCATGGCCCG TCATCCGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGGATCCCATGGCCCGTCTTCCGTCTTCTCTCTCACCCCCCGGATC CCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGGCCCG TCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCC TCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCAC CCCCCGCATCCCATGGCCCGTCTTCCGTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852583	T T	TGGCCCAT others(351): Show TGGCCCATCTTCCGTCCTCTCCCCACCCCCTGGATCCCATGGCCCATCTT CCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCTCTCACCCCCC GGATCCCAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0317 a0001c0019t0001g0317	1	356	0.0028	358	c.646 others(375): Show c.646-1691_646-1690insGTCCTCTCCCCACCCCCTGGATCCCATG GCCCATCTTCCATCCTCCCCCAACCCCCCAGATCCCCTGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCTC TCACCCCCCGGATCCCACGGCCCATCTTCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(351): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGGA GGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGGGGAGGGG AGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAG GGGGGGAGGGGAGGGGAGGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0191 a0002c0002t0002g0191	1	260	0.0039	358	c.138 others(377): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCTC CCCTCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCTCCC CCTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCC CCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
STXBP4_chr17_54963765_55178632	55038729	T T	TCATAGTA others(351): Show TCATAGTATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCA GACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACA GGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGAT CCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0015 a0003c0004t0015	a0003c0004t0015g0367 a0003c0004t0015g0367	1	378	0.0027	358	c.855 others(375): Show c.855+4484_855+4485insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCCAGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTC CGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGG GACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCCATAGTATGATTTT	STXBP4	ENSG00000166263.13	transcript	ENST00000376352.6	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
SUFU_chr10_102498972_102638535	102637258	A A	ATATATAT others(351): Show ATATATATATAATATATATATTATATATTATATAACATATATTATATATA ATATATTATTATATATTATATAACTATATATTATATATAATATATATATT ATATATTATATAACTATATATTATATATAATATATATATTATATATTATA TAACTATATATTATATATAATATATATATTATATATTATATAACTATATA TTATATATAATATATATTATATATTATATAACTATATATTATATATAATA TATATATTATATATTATATAACTATATATTATATATAATATATATATTAT ATATAATATAACTATATATTATATATAATATATATATTATATATTATATA ACTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	268	0.0037	358	c.71 others(369): Show c.7103_*7104insTATATATATAATATATATATTATATATTATATAA CATATATTATATATAATATATTATTATATATTATATAACTATATATTATA TATAATATATATATTATATATTATATAACTATATATTATATATAATATAT ATATTATATATTATATAACTATATATTATATATAATATATATATTATATA TTATATAACTATATATTATATATAATATATATTATATATTATATAACTAT ATATTATATATAATATATATATTATATATTATATAACTATATATTATATA TAATATATATATTATATATAATATAACTATATATTATATATAATATATAT ATTATATATTATATAACTATATAT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		3724		chr10	TogoVar
TAF4_chr20_61969798_62070881	61985041	T T	TGTGGTAT others(351): Show TGTGGTATGGGGAGGGAAGGGGTGGCAGGGGAGGGAGGGTGCAGTGGGGG GAGGGTGTGGTGGGGGAGGGAGGCTGTGGTGGGGGGAAGGAGGAGACGGC GGGGAAAGGAGGGGGTGGTGGGGGGAGGGAGGGGGCGGCGGGGAGAGGGA GGGGTGGCGGGGGTAGGGAGGGCATGGGGGGGAGGGAGGGTGCAGCAGGG GGATGGAGGGCGTGGGGGGAGGGAGGGGGCGGCGGGGGGGGAGGGAGGGC GTGGGGGGGGGAGGGAGGGCGTGGGGGGGGAGGGAGGGCGTGGGGGGGAG GGAGGGGGGCGGCGGGAGGAGGGAGGGCATGGGGGGAGGGAGGGGGGCGG CGGGGGGAG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0125 a0001c0003t0001g0125	1	314	0.0032	358	c.309 others(377): Show c.3091-8707_3091-8706insCTCCCCCCGCCGCCCCCCTCCCTCCC CCCATGCCCTCCCTCCTCCCGCCGCCCCCCTCCCTCCCCCCCACGCCCTC CCTCCCCCCCCACGCCCTCCCTCCCCCCCCCACGCCCTCCCTCCCCCCCC GCCGCCCCCTCCCTCCCCCCACGCCCTCCATCCCCCTGCTGCACCCTCCC TCCCCCCCATGCCCTCCCTACCCCCGCCACCCCTCCCTCTCCCCGCCGCC CCCTCCCTCCCCCCACCACCCCCTCCTTTCCCCGCCGTCTCCTCCTTCCC CCCACCACAGCCTCCCTCCCCCACCACACCCTCCCCCCACTGCACCCTCC CTCCCCTGCCACCCCTTCCCTCCCCATACCAC	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding	14/14			chr20	TogoVar
TAFA4_chr3_68726766_68937547	68781188	C C	CAAGAAAG others(351): Show CAAGAAAGGTCCTAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA AATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGC CGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19084.hp1 NA18945.hp2 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0076 a0001c0001t0001g0038 a0001c0001t0001g0076	2	316	0.0063	358	c.131 others(377): Show c.131-28171_131-28170insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAGGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCGACTTAGGACCTTTCTT	TAFA4	ENSG00000163377.16	transcript	ENST00000295569.12	protein_coding	3/5			chr3	TogoVar
TBCD_chr17_82747065_82950914	82765407	G G	GTGTGCTC others(351): Show GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGC TTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGT GTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCAT AGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGCTCATAGTCTGCTTTTC TTACAAGCTTGCGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTT GCGGGTGTC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0003 a0001c0041t0003	a0001c0041t0003g0133 a0001c0041t0003g0133	1	318	0.0031	358	c.334 others(373): Show c.334-858_334-857insTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGT CTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGTGCTCATAGTCTGCTTTT CTTACAAGCTTGCGGGTGTGTGCTCATAGTCTGCTTTTCTTACAAGCTTG CGGGTGTCTGTGCTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTG CTCATAGTCTGCTTTTCTTACAAGCTTGCGGGTGTCTGTGCTCATAGTCT GCTTTTCTTACAAGCTTGCGGGTGTCTG	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	3/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCE_chr1_235362427_235457443	235412193	C C	CCCCTCCC others(351): Show CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCCCTTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCT CCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCT CCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCT CCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCC CCCTCCCCT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	268	0.0037	358	c.186 others(375): Show c.186-2237_186-2236insTCCCCATCCCCTCCCTTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTTCCCCCTCCCCTCCCCTCC CTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTC CCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCC CTCCTCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCC TCTCCCCTCCCCCCTCCCCCCTCCCCTCCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TERT_chr5_1248167_1300068	1273733	C C	CCACATCA others(351): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCTAC GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCC ACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCTGTGACCGATCACCATCCAGTCACCACACATCAGACCCCACGAC TGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGATCACCATCCA CAGTCACCA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG03704.hp1 NA18945.hp1 others(3): Show HG02273.hp2 HG03704.hp1 NA18945.hp1 NA18971.hp2 NA18999.hp2 NA19085.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0262 a0001c0003t0001g0290 a0001c0003t0001g0295 others(3): Show a0001c0003t0001g0262 a0001c0003t0001g0290 a0001c0003t0001g0295 a0001c0003t0001g0296 a0001c0003t0001g0299 a0001c0004t0001g0054	6	392	0.0153	358	c.228 others(377): Show c.2287-1454_2287-1453insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATGT GTGGTGACTGGATGGTGATCGGTCACAGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(351): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCCTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0197 a0002c0002t0001g0197	1	206	0.0049	358	c.443 others(377): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGAGGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THADA_chr2_43225851_43601038	43298032	C C	CCCCGGCC others(351): Show CCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCG CCCCATCTGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCTGCCCGGCCAGCCG CCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGATCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 NA20300.hp2 HG02486.hp1 HG02717.hp2 NA20300.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0017 a0001c0001 a0011c0017	a0001c0001t0001 a0011c0017t0001 a0001c0001t0001 a0011c0017t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0011c0017t0001g0012 a0001c0001t0001g0112 a0001c0001t0001g0113 a0011c0017t0001g0012	3	206	0.0146	358	c.443 others(377): Show c.4439-4820_4439-4819insCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGGCTGATCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGG GGGCTGACACCCCCACCTCCCTCCCAGATGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGG	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THNSL2_chr2_88165346_88191627	88181142	C C	CCTCTCTC others(351): Show CCTCTCTCCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCCTCTCTC CTCTCTCTCCTCTCTCTCTCTCCTCTCTCCTCTCCTCTCTCCTCTCTCTC TCTCTCTCTCTCTCCCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCT CTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCC TCTCTCTCTCCTCTCTCTCCTCTCTCTCTTCTCTCTCTCCTCTCTCTCTC CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCT CTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCT CTCTCCTCT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0048 a0008c0007t0002g0048	1	54	0.0185	358	c.803 others(375): Show c.803-1550_803-1549insCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCCCTCTCTCCTCTCTCTCCTCTCTCTCTCTCCTCTCTCCTCTCCT CTCTCCTCTCTCTCTCTCTCTCTCTCTCCCTCTCTCCTCTCTCTCTCTCC TCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCTCCTCTCTCTCTCCTCTC TCTCCTCTCTCTCCTCTCTCTCTCCTCTCTCTCCTCTCTCTCTTCTCTCT CTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCTCCTCTCTCTCTCTCTCCTCTCTCTCTCCTCTCTCTCTCCTC TCTCTCTCCTCTCTCTCTCCTCTCTCTCTC	THNSL2	ENSG00000144115.18	transcript	ENST00000674334.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
TH_chr11_2158929_2176815	2161579	G G	GACCCCTG others(351): Show GACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCAGGACCC CTGTGCCCACACCCCTGTCCTCAGACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCGGGACCCCTGTCCCCACACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCC GGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCC CTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCC CACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TATCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0004 a0001c0003t0001g0004	1	388	0.0026	358	c.26 others(369): Show c.2653_*2654insGTGGGGATAGGGGTGTGGGGACAGGGGTCTGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTGTGGGGACAGGGGTCCCGGGGACAGGGGTGTGGGGACAGGGG TGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCCGGGG ACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGG TCTGAGGACAGGGGTGTGGGCACAGGGGTCCTGGGGACAGGGGTCCTGGG GACAGGGGTCCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		2349		chr11	TogoVar
TMEM14A_chr6_52666113_52691588	52672314	C C	CAAGAGAA others(351): Show CAAGAGAAGATCGCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAAATACA AAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTG AGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18993.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	426	0.0024	358	c.-17 others(375): Show c.-17+1085_-17+1086insCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAAAAAAA ATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTAC TCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTG CAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAGAGAAGATCGCAGG	TMEM14A	ENSG00000096092.6	transcript	ENST00000211314.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMEM45A_chr3_100487619_100582444	100506599	A A	ATAGCACT others(351): Show ATAGCACTTCCTCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTC CCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19082.hp1 NA19063.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0272 a0001c0001t0001g0144 a0001c0001t0001g0272	2	322	0.0062	358	c.-4+ others(375): Show c.-4+13687_-4+13688insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTAGTA GAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCTGACCTC GTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGC CACCGCGCCCGGCCTAGCACTTCCTCTTTC	TMEM45A	ENSG00000181458.10	transcript	ENST00000323523.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TNR_chr1_175310194_175748595	175651084	C C	CCCCCACC others(351): Show CCCCCACCTCATTACTACCCCTCCCCATCTCATTACTCCCCCCCCACCTC ATTACTACCCCTCCCCATCTCATTACTCCTCCTCCCCCATCTCATTACTA CCTGTCCCCCACCTCCTTACTACCCCTCCCCCACCTCATTACTACCCATC TCCCACCTCATTCCTCCTCCTCCCCACCTCATTACTACCCCTCTCCCACC TCATTACTACCCCTCCCCACCTCATTACTACTCCTCCCCATCTCATTACT ACCCCTCCCCATCTCATTACTCCCCCCCACCTCATTACTACTCCTCCCCA TCTCATTACTACCCCTCCCCACCTCATTATTCCACCTTCCCCACCTCATT ACTACCCCT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0005 a0003c0001t0005	a0003c0001t0005g0019 a0003c0001t0005g0019	1	132	0.0076	358	c.-16 others(379): Show c.-165+92141_-165+92142insAGGGGTAGTAATGAGGTGGGGAAG GTGGAATAATGAGGTGGGGAGGGGTAGTAATGAGATGGGGAGGAGTAGTA ATGAGGTGGGGGGGAGTAATGAGATGGGGAGGGGTAGTAATGAGATGGGG AGGAGTAGTAATGAGGTGGGGAGGGGTAGTAATGAGGTGGGAGAGGGGTA GTAATGAGGTGGGGAGGAGGAGGAATGAGGTGGGAGATGGGTAGTAATGA GGTGGGGGAGGGGTAGTAAGGAGGTGGGGGACAGGTAGTAATGAGATGGG GGAGGAGGAGTAATGAGATGGGGAGGGGTAGTAATGAGGTGGGGGGGGAG TAATGAGATGGGGAGGGGTAGTAATGAGGTGGGG	TNR	ENSG00000116147.18	transcript	ENST00000367674.7	protein_coding	1/22			chr1	TogoVar
TP53BP2_chr1_223774893_223850947	223800183	T T	TAAAAGGA others(351): Show TAAAAGGATAACCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	380	0.0026	358	c.133 others(375): Show c.1337-137_1337-136insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGCCTGGGTTATCCTTTT	TP53BP2	ENSG00000143514.18	transcript	ENST00000343537.12	protein_coding	10/17			chr1	TogoVar
TPD52_chr8_80029745_80176564	80072685	G G	GCGTGTAT others(351): Show GCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACACAT AGATATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGT ACACATAGATATGCGTGTATATACATGTACACATAGATATGCGTGTATAT ACATGTACACATAGATATGCGTGTATATACATGTACACATAGATATGCGT GTATATACATGTACACATAGATATGCGTGTATATACATGTACACATAGAT ATGCGTGTATATACATGTACACATAGATATGCGTGTATATACATGTACAC ATAGATATGCGTGTATATACATGTACACATAGATGTGTGTATATACATGT ACACATAGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA21309.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0188 a0001c0001t0001g0189	2	228	0.0088	358	c.20- others(373): Show c.20-8093_20-8092insTCTATGTGTACATGTATATACACACATCTA TGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACACGCA TATCTATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATA CACGCATATCTATGTGTACATGTATATACACGCATATCTATGTGTACATG TATATACACGCATATCTATGTGTACATGTATATACACGCATATCTATGTG TACATGTATATACACGCATATCTATGTGTACATGTATATACACGCATATC TATGTGTACATGTATATACACGCATATCTATGTGTACATGTATATACACG CATATCTATGTGTACATGTATATACACG	TPD52	ENSG00000076554.16	transcript	ENST00000518937.6	protein_coding	1/7			chr8	TogoVar
TRAF6_chr11_36478769_36515272	36507555	G G	GTGTACAC others(351): Show GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATAT ACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTAT ATACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGT ATGTGTATA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0274 a0001c0001t0010g0274	1	388	0.0026	358	c.-23 others(375): Show c.-23+2492_-23+2493insTATACACATACATGTGTACACATGTATA CGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTA TACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATG TATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTA CACATGTATACGTATATACATGTGTACACATGTATACGTATATACATGTG TACACATGTATACGTATATACATGTGTACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TSPAN9_chr12_3072379_3291559	3268349	T T	TGTTCCTG others(351): Show TGTTCCTGCAGCCTGCCCTCCATGTGTTCCTGCAGCCTGCCCTCTGTGTT CCTGCAGCCTGCCCTCCGAGCGTTTCTGCAGCCTGCCCTCTCTGTGTTCC TGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTG CAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTGCATTCCTGCA GCCTGCCCTCCGTGCATTTCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGC CTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTGCATTTCTGCAGCCT GCCCTCTCTGTGTTCCTGCAGCCTGCCCTGTCTGTGTTCCTGCAGCCTGC CCTCTGTGC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02451.hp2 HG06807.hp2 HG01358.hp2 HG02451.hp2 HG06807.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0039 a0001c0004t0059 a0001c0004t0096 a0001c0004t0039 a0001c0004t0059 a0001c0004t0096	a0001c0004t0039g0285 a0001c0004t0059g0097 a0001c0004t0096g0055 a0001c0004t0039g0285 a0001c0004t0059g0097 a0001c0004t0096g0055	3	288	0.0104	358	c.64- others(375): Show c.64-10053_64-10052insCATGTGTTCCTGCAGCCTGCCCTCTGTG TTCCTGCAGCCTGCCCTCCGAGCGTTTCTGCAGCCTGCCCTCTCTGTGTT CCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCC TGCAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTGCATTCCTG CAGCCTGCCCTCCGTGCATTTCTGCAGCCTGCCCTCTCTGTGTTCCTGCA GCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCGTGCATTTCTGCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTGTCTGTGTTCCTGCAGCCT GCCCTCTGTGCGTTCCTGCAGCCTGCCCTC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBE4A_chr11_118354600_118404211	118355868	T T	TATATACA others(351): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATA CGCATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTG TGTATACGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	320	0.0031	358	c.-38 others(369): Show c.-3848_-3847insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT ATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATAC ACACATATATGTGTGTGTATACGC	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3731		chr11	TogoVar
UCN3_chr10_5359966_5379692	5370209	G G	GTATGTGT others(351): Show GTATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGTGT ATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGT GTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTATATGT GTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGT GTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTAT ATGCGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0109 a0001c0002t0003g0109	1	468	0.0021	358	c.-6- others(373): Show c.-6-3493_-6-3492insATATGTGTGTATATATGTGTGTGTATATGT GTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTATATGCGTGT GTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGT ATATGTGTGTGTATGTGTGTGTGTATGTGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGT GTGTATATGCGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGT GTATATGCGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370209	G G	GTATGTGT others(351): Show GTATGTGTGTGTATATATGTGTGTATATATGTGTGTGTATATGTGTGTGT ATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGTGTATAT GCGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGTGTGTAT GTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGTGTATAT GTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATATGCGTGT GTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGTGTGTAT ATGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGTGTATAT GCGTGTGTA	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19065.hp1 NA18946.hp2 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0123 a0001c0002t0003g0124 a0001c0002t0003g0123 a0001c0002t0003g0124	2	468	0.0043	358	c.-6- others(373): Show c.-6-3493_-6-3492insATATGTGTGTATATATGTGTGTGTATATGT GTGTGTATATGCGTGTGTATGTGTGTGTATATGTGTGTGTATATGTGTGT GTATATGCGTGTGTATATGTGTGTGTATATGTGTGTGTGTGTATATGCGT GTGTATGTGTGTGTATATGCGTGTGTATATGTGTGTGTGTATATGTGTGT GTATATGTGTGTGTATGTGTGTGTATGTGTGTGTATATGCGTGTGTATAT GCGTGTGTATATGCGTGTGTATGTGCGTGTGTATGTGCGTGTGTATGTGT GTGTATATGTGTGTATATGTGTGTGTGTATATGCGTGTGTATGCGTGTGT GTATATGCGTGTGTATATGTGTGTGTAT	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
ULK1_chr12_131889622_131928150	131917167	C C	CGGAGGCT others(351): Show CGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCT GTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACG GGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGCTCGG AGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTG GGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGG GTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGG CTGTGGGATGGGGGTCGGGTGGGGCTCGAGGCTGTGGGACGGGGGTCGGG TTCGGCTCG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0160 a0001c0001t0002g0160	1	344	0.0029	358	c.218 others(375): Show c.2182+106_2182+107insGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGG GGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGA GGCTGTGGGACGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGG GACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGG TCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGGTGGGGCTCGAG GCTGTGGGACGGGGGTCGGGTTCGGCTCGG	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK1_chr12_131889622_131928150	131918730	G G	GGGGTGTG others(351): Show GGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGT GTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGGTGTGTGGGGTATAG GGTGTGTGGGGTGTCGGGTGTGGGGTGTCGGGGGTGTGGGGTGTAGAGTG TGGGGTGTAGTGTGGGGTGTCAGGTGTGTGGGGTGTCGGGTGTGGGGTGT CAGGTGTGTGGGGTGTAGGGTGTGGGGTGTAGGGTGTGTGGTGTAGGGTA TGGGGTGTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01175.hp2 HG02258.hp2 others(7): Show HG00733.hp1 HG01175.hp2 HG02258.hp2 HG02559.hp2 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03195.hp2 NA19043.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0003t0005 a0001c0002t0005 a0001c0003t0005	a0001c0002t0005g0092 a0001c0002t0005g0310 a0001c0002t0005g0317 others(7): Show a0001c0002t0005g0092 a0001c0002t0005g0310 a0001c0002t0005g0317 a0001c0002t0005g0322 a0001c0002t0005g0323 a0001c0003t0005g0055 a0001c0003t0005g0318 a0001c0003t0005g0319 a0001c0003t0005g0320 a0001c0003t0005g0321	10	344	0.0291	358	c.251 others(373): Show c.2511+96_2511+97insAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGTGGGGTGTCAGGTG TGTGGGGTGTCGGGTGTGGGGTGTAGGGTATGGGGTGTCGGGTGTGTGGG GTGTCGGGTGTGTGGGGTATAGGGTGTGTGGGGTGTCGGGTGTGGGGTGT CGGGGGTGTGGGGTGTAGAGTGTGGGGTGTAGTGTGGGGTGTCAGGTGTG TGGGGTGTCGGGTGTGGGGTGTCAGGTGTGTGGGGTGTAGGGTGTGGGGT GTAGGGTGTGTGGTGTAGGGTATGGGGTGTCGGGTGTGTGGGGTGTCGGG TGTGTGGGGTATAGGGTGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNC5C_chr4_95157504_95553973	95448715	T T	TGAAAGTA others(351): Show TGAAAGTATATGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCCACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0023 a0001c0004t0023	a0001c0004t0023g0187 a0001c0004t0023g0187	1	204	0.0049	358	c.124 others(379): Show c.124+100018_124+100019insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTGGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGCCAGCATATACTTTC	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
USP43_chr17_9640517_9734687	9681131	C C	CTATATAA others(351): Show CTATATAATATATACTATATAATATATACTATATAATATACTATATAATA TATTATATATAATGTATATATTATATAGTATATATTATATAGTATATATT ATATAGTATATATTATATAGTATATATTATATAGTATATATTATATACTA TATATTATATAGTATATATTATATAGTATATAATATATAGTATATAATAT ATACTATATAATATATACTATATAATATATACTATATAATATACTATATA ATATATTATATAGTATATTATATAGTATATATTATATAGTATATATTATA TAGTATATATTATATACTATATATTATATACTATATAATATATACTATAT AATATATAG	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0147	1	330	0.0030	358	c.110 others(375): Show c.1105+804_1105+805insCTATATAATATATTATATATAATGTATA TATTATATAGTATATATTATATAGTATATATTATATAGTATATATTATAT AGTATATATTATATAGTATATATTATATACTATATATTATATAGTATATA TTATATAGTATATAATATATAGTATATAATATATACTATATAATATATAC TATATAATATATACTATATAATATACTATATAATATATTATATAGTATAT TATATAGTATATATTATATAGTATATATTATATAGTATATATTATATACT ATATATTATATACTATATAATATATACTATATAATATATAGTATATAATA TATACTATATAATATATACTATATAATATA	USP43	ENSG00000154914.17	transcript	ENST00000285199.12	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr17	TogoVar
WDR81_chr17_1719704_1743585	1739135	A A	AGCCTGAT others(351): Show AGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAGGGTGGGAAGTGGCCT GATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGAAGCGGCCTGATGCAG GGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATTCAGGGAGT GAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGA GCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGAGCAGG ACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGTGAGGAGCCGGACAGT GAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGG TGGGAGGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG03486.hp2 HG02622.hp1 HG02818.hp1 HG03486.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0021 a0003c0005t0003g0021	3	431	0.0070	358	c.14 others(369): Show c.1450_*1451insGCCTGATGCAGGGAGTGAGGAGCAGGACAGTGAG GGTGGGAAGTGGCCTGATGCAGGGAGTGAGGAGCAGGTGTGAGGGCGGGA AGCGGCCTGATGCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAG CCTGATTCAGGGAGTGAGGCGCAGGACAGTGAGGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAG GGAGTGAGGAGCAGGACAGTGAGGGTGGGAGGCGGCCTGATGCAGGGAGT GAGGAGCCGGACAGTGAGGGTGGGAAGGAGCCTGATGCAGGGAGTGAGGC GCAGGACAGTGAGGGTGGGAGGCG	WDR81	ENSG00000167716.19	transcript	ENST00000409644.6	protein_coding		551		chr17	TogoVar

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