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
PDE3A_chr12_20363537_20693583	20612651	A A	ATATATAA others(172): Show ATATATAAGTAATATATAAGTAACTATATATAAGTAATATAGTTACTTAT ATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAACTATATA TAAGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAAT ATAGTTACTTATATAAGTAATATAGTTACT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG01358.hp1 others(3): Show HG00099.hp2 HG00642.hp2 HG01358.hp1 HG03209.hp2 HG03710.hp2 NA18948.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0005 a0001c0001t0034 others(3): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0034 a0001c0001t0078 a0001c0001t0108 a0002c0002t0119	a0001c0001t0002g0056 a0001c0001t0005g0192 a0001c0001t0034g0004 others(3): Show a0001c0001t0002g0056 a0001c0001t0005g0192 a0001c0001t0034g0004 a0001c0001t0078g0184 a0001c0001t0108g0062 a0002c0002t0119g0138	6	198	0.0303	179	c.101 others(196): Show c.1012-777_1012-776insTAAGTAACTATATATAAGTAATATAGTT ACTTATATAAGTAACTATATATAAGTAATATAGTTACTTATATAAGTAAC TATATATAAGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATA AGTAATATAGTTACTTATATAAGTAATATAGTTACTTATATAAGTAATAT A	PDE3A	ENSG00000172572.7	transcript	ENST00000359062.4	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDIA2_chr16_278164_292215	285931	C C	CCCCAACC others(172): Show CCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCC AACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCG GTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCAACCCCAACCCAA CCCCAACCCCAACCCCAACCCCAACCCCAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0001 a0010c0018t0001	a0010c0018t0001g0020 a0010c0018t0001g0020	1	436	0.0023	179	c.111 others(196): Show c.1119+237_1119+238insGCGGTTCTCCCAACCCCAACCCCAACCC CAACCCAACCCCAACCCCAACACCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCAACCCCA ACCCCAACCCAACCCCAACCCCAACCCCAACCCCAACCCCAACCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285937	C C	CCCCAACC others(172): Show CCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGT TCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAAC CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTTCTCCCA ACCCCGCGGTTCTCCCAACCCCGCGGTTCT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02886.hp1 HG02895.hp1 others(1): Show HG02572.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0026 a0001c0005t0001g0035 a0001c0005t0001g0026 a0001c0005t0001g0035	4	436	0.0092	179	c.111 others(196): Show c.1119+249_1119+250insGCGGTTCTCCCAACCCCAACCCCAACCC CGCGGTTCTCCCAACCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC CCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCGCGGTT CTCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAACCCCAACCC C	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDXK_chr21_43714129_43767299	43741200	G G	GGGGGGCT others(172): Show GGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0156 a0001c0001t0024g0156	1	358	0.0028	179	c.143 others(194): Show c.143-462_143-461insCTGGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTGGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43741395	G G	GGGGGGCT others(172): Show GGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTC GCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGG GGCTCGCAGGGGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0178 a0001c0001t0007g0178	1	358	0.0028	179	c.143 others(194): Show c.143-267_143-266insCTGGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCG GGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976939	C C	CAACCCCG others(172): Show CAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACTCCCCCCG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02895.hp1 HG02922.hp2 others(3): Show HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG03195.hp1 HG03225.hp1	a0002 a0016 a0002 a0016	a0002c0002 a0016c0027 a0002c0002 a0016c0027	a0002c0002t0001 a0002c0002t0002 a0016c0027t0002 a0002c0002t0001 a0002c0002t0002 a0016c0027t0002	a0002c0002t0001g0057 a0002c0002t0002g0013 a0002c0002t0002g0056 others(1): Show a0002c0002t0001g0057 a0002c0002t0002g0013 a0002c0002t0002g0056 a0016c0027t0002g0058	6	408	0.0147	179	c.215 others(196): Show c.2150-316_2150-315insCGGGGGGAGTGGGAGGCGGTTCCCGGGA TTGGGGGTCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGGCG GTTCCCGGGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGGTGG GGGCAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGT T	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PERM1_chr1_970198_987093	977058	C C	CCCCGCGC others(172): Show CCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAAC CGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAAT CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCAC GACCCCCAATCCCGGGAACCGCCTCCCACT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA19005.hp1 NA18957.hp2 NA19005.hp1	a0002 a0019 a0002 a0019	a0002c0002 a0019c0024 a0002c0002 a0019c0024	a0002c0002t0002 a0019c0024t0002 a0002c0002t0002 a0019c0024t0002	a0002c0002t0002g0254 a0019c0024t0002g0239 a0002c0002t0002g0254 a0019c0024t0002g0239	2	408	0.0049	179	c.215 others(196): Show c.2150-435_2150-434insAGTGGGAGGCGGTTCCCGGGATTGGGGG TCGTGGGAGGCGGTTCTCGGGGTTGGCGGGGTGGTGGGAGGCGGTTCCCG GGATTGGGGGTCGTGGGAGGCGGTTCCCGGGGTTGGTCGGTGGGGGCAGG CGGTTCCCGGGGTTGGTCGGTGGGGGCAGGCGGTTCCCGGGGTTGCGCGG G	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(172): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTCTCCTCAC CCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCT GCCGCTTCACCCCTGCCCCTTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0001 a0001c0024t0001	a0001c0024t0001g0356 a0001c0024t0001g0356	1	402	0.0025	179	c.775 others(194): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTCTCCTCACCCCTGCCCCTGCCCCTGCCCCTTCACCCCTGCCCCT GCCCCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCC CTCTCCTCGCCCCTGCCGCTTCACCCCTGCCCCTTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(172): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTCGCCCCTGCCG CTTCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01168.hp2 others(11): Show HG00738.hp2 HG01099.hp1 HG01168.hp2 HG01261.hp1 HG02698.hp1 HG03453.hp1 HG03490.hp2 HG03654.hp1 HG03704.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 NA20129.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0001c0007 a0001c0010 others(3): Show a0001c0005 a0001c0007 a0001c0010 a0001c0016 a0001c0026 a0002c0013	a0001c0005t0002 a0001c0007t0005 a0001c0007t0017 others(4): Show a0001c0005t0002 a0001c0007t0005 a0001c0007t0017 a0001c0010t0001 a0001c0016t0007 a0001c0026t0001 a0002c0013t0004	a0001c0005t0002g0178 a0001c0005t0002g0326 a0001c0005t0002g0330 others(11): Show a0001c0005t0002g0178 a0001c0005t0002g0326 a0001c0005t0002g0330 a0001c0007t0005g0281 a0001c0007t0005g0292 a0001c0007t0005g0333 a0001c0007t0005g0389 a0001c0007t0017g0160 a0001c0010t0001g0236 a0001c0016t0007g0050 a0001c0016t0007g0057 a0001c0026t0001g0171 a0002c0013t0004g0005 a0002c0013t0004g0249	14	402	0.0348	179	c.775 others(194): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCC CTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCT CCTCGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3106725	G G	GCCCCTCT others(172): Show GCCCCTCTCCTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTGCCCCTTC ACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCC CTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCTCCTTGCCCCTGCCG CTTCACCCCTGCCCCTCTCCTCACCCCTGC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0005 a0001c0007t0005	a0001c0007t0005g0093 a0001c0007t0005g0093	1	402	0.0025	179	c.775 others(194): Show c.775-484_775-483insCTCCTCACCCCTGCCCCTCTCCTCACCCCT GCCCCTGCCCCTTCACCCCTGCCCCTGCCCCTTCACCCCTGCCCCTGCCC CTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCTTCACACCTGCCCCTCT CCTTGCCCCTGCCGCTTCACCCCTGCCCCTCTCCTCACCCCTGCCCCCT	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding	7/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
PHKA1_chrX_72573814_72719306	72681898	A A	AGGGGGGG others(172): Show AGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTG	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0140 a0001c0001t0013g0140	1	237	0.0042	179	c.537 others(196): Show c.537+2599_537+2600insCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCC C	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PKP3_chr11_389209_409908	399366	A A	ACCCCCTC others(172): Show ACCCCCTCCACCTGCCCGCCATCTGCCCCACTCCTCCACCTGCCCCCTCT GCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCCTCCAC CTGCCCGCCATCTGCCCCCCTTCTCCACCTGCCCCCTCTGCCACCTGCCC CCCTACTCCTCCTCCCCCCCTCTGCCTTAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	216	0.0046	179	c.127 others(196): Show c.1273+175_1273+176insTCCACCTGCCCGCCATCTGCCCCACTCC TCCACCTGCCCCCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCT GCCTTACCCCCTCCACCTGCCCGCCATCTGCCCCCCTTCTCCACCTGCCC CCTCTGCCACCTGCCCCCCTACTCCTCCTCCCCCCCTCTGCCTTACCCCC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401785	G G	GGCCCCGC others(172): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCCAGCCCCGCTCACACCCGCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01975.hp2 HG03704.hp2 HG01952.hp1 HG01975.hp2 HG03704.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0114 a0001c0003t0001g0095 a0001c0003t0001g0098 a0001c0003t0001g0114	3	216	0.0139	179	c.173 others(198): Show c.1737+1080_1737+1081insGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACACCCGCCCCGCTCACCCCCAGCCCCGCTCACACCCGCCCCG CTC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLEKHN1_chr1_961482_980865	976939	C C	CAACCCCG others(172): Show CAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTGC CCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAATCCCGGGA ACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCACGACCCCC AATCCCGGGAACCGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG02895.hp2 HG02922.hp2 others(3): Show HG02809.hp2 HG02895.hp2 HG02922.hp2 HG02965.hp2 HG03195.hp1 HG03225.hp1	a0001 a0001	a0001c0009 a0001c0011 a0001c0009 a0001c0011	a0001c0009t0002 a0001c0009t0008 a0001c0011t0007 a0001c0009t0002 a0001c0009t0008 a0001c0011t0007	a0001c0009t0002g0024 a0001c0009t0002g0123 a0001c0009t0002g0125 others(2): Show a0001c0009t0002g0024 a0001c0009t0002g0123 a0001c0009t0002g0125 a0001c0009t0008g0094 a0001c0011t0007g0155	6	422	0.0142	179	c.23 others(190): Show c.2364_*2365insAACCCCGGGAACCGCCTGCCCCCACCGACCAACC CCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGA CCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCG CCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1075		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977058	C C	CCCCGCGC others(172): Show CCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAAC CGCCTGCCCCCACCGACCAACCCCGGGAACCGCCTCCCACGACCCCCAAT CCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGAGAACCGCCTCCCAC GACCCCCAATCCCGGGAACCGCCTCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp2 NA19005.hp1 NA18957.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0003 a0002c0002t0002g0003	2	422	0.0047	179	c.24 others(190): Show c.2483_*2484insCCCGCGCAACCCCGGGAACCGCCTGCCCCCACCG ACCAACCCCGGGAACCGCCTGCCCCCACCGACCAACCCCGGGAACCGCCT CCCACGACCCCCAATCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCG AGAACCGCCTCCCACGACCCCCAATCCCGGGAACCGCCTCCCACT	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1194		chr1	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(172): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTATATATATGTGTGTGTATATATATGTATATATGTATATATATGTATAT ATATATACATATATATACATATATATACATATATACATATATATACACAC ACATATATATACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp2 HG02083.hp1 others(5): Show HG00639.hp1 HG00738.hp2 HG02083.hp1 HG03239.hp1 HG03834.hp1 NA18964.hp1 NA18984.hp1 NA19087.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0002c0008 a0005c0010	a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0002 a0001c0002t0001 a0002c0003t0001 a0002c0003t0027 a0002c0004t0002 a0002c0008t0006 a0005c0010t0022	a0001c0001t0002g0168 a0001c0002t0001g0111 a0002c0003t0001g0112 others(5): Show a0001c0001t0002g0168 a0001c0002t0001g0111 a0002c0003t0001g0112 a0002c0003t0001g0116 a0002c0003t0027g0169 a0002c0004t0002g0153 a0002c0008t0006g0137 a0005c0010t0022g0167	8	170	0.0471	179	c.106 others(198): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTATATATATGTGTGTGTATATATATGTATATATGT ATATATATGTATATATATATACATATATATACATATATATACATATATAC ATATATATACACACACATATATATACACACACACACATAATACATATATA TAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPFIA2_chr12_81252975_81764350	81642770	A A	ATATATTA others(172): Show ATATATTATATACATACACGTGTATGTATATATTATATACATACACGTGT ATGTATATATTATATACATACACGTGTATGTATATATTATATACATACAC GTGTATGTATATATTATATACATACATGTATGTATTATATACATACATAC ACATGTATGTATATAATATATACATACACG	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0109 a0001c0002t0001g0109	1	168	0.0060	179	c.303 others(198): Show c.303+34020_303+34021insCGTGTATGTATATATTATATACATAC ATGTGTATGTATGTATATAATACATACATGTATGTATATAATATATACAT ACACGTGTATGTATATAATATATACATACACGTGTATGTATATAATATAT ACATACACGTGTATGTATATAATATATACATACACGTGTATGTATATAAT ATA	PPFIA2	ENSG00000139220.17	transcript	ENST00000549396.6	protein_coding	4/32			chr12	TogoVar
PRDM16_chr1_3064203_3443621	3167621	C C	CCCCCCTG others(172): Show CCCCCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTC TGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTC CCAGCGCCTCTGTGACATTGCCCCCCTGCTCCTGCCATCCTCCCACCCCA CCCCTGCCTCCCAGCGCCTCTGTGGCATTG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp1 HG01081.hp1 others(21): Show HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01106.hp2 HG02145.hp1 HG02273.hp1 HG02300.hp2 HG02572.hp1 HG02738.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03516.hp2 HG03710.hp1 HG03831.hp1 HG06807.hp1 NA18950.hp2 NA18966.hp1 NA19079.hp2 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0002 a0001c0004 others(9): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0009 a0001c0013 a0001c0026 a0001c0029 a0002c0003 a0002c0007 a0003c0005 a0007c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(21): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0017 a0001c0004t0004 a0001c0004t0007 a0001c0004t0010 a0001c0004t0029 a0001c0004t0055 a0001c0006t0011 a0001c0006t0024 a0001c0009t0067 a0001c0013t0041 a0001c0026t0001 a0001c0029t0065 a0002c0003t0001 a0002c0003t0009 a0002c0007t0024 a0003c0005t0001 a0007c0018t0012	a0001c0001t0001g0165 a0001c0001t0003g0168 a0001c0001t0008g0097 others(21): Show a0001c0001t0001g0165 a0001c0001t0003g0168 a0001c0001t0008g0097 a0001c0001t0056g0204 a0001c0002t0001g0121 a0001c0002t0002g0180 a0001c0002t0003g0120 a0001c0002t0017g0202 a0001c0004t0004g0051 a0001c0004t0007g0038 a0001c0004t0010g0174 a0001c0004t0029g0044 a0001c0004t0055g0004 a0001c0006t0011g0039 a0001c0006t0024g0026 a0001c0009t0067g0145 a0001c0013t0041g0025 a0001c0026t0001g0160 a0001c0029t0065g0131 a0002c0003t0001g0142 a0002c0003t0009g0078 a0002c0007t0024g0070 a0003c0005t0001g0171 a0007c0018t0012g0030	24	210	0.1143	179	c.38- others(196): Show c.38-18461_38-18460insCGCCTCTGTGACATTGCCCCCCTGCTCC TGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTGTGACATTGCC CCCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCAGCGCCTCTG TGGCATTGCCCCCTGCTCCTGCCATCCTCCCACCCCACCCCTGCCTCCCA G	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRIMPOL_chr4_184644738_184699952	184676452	T T	TCTCCCTT others(172): Show TCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCTTCCCCTC CCCTTCCTCTCTCCTTCCCCCTTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCTCCCTTCCCCCTTCCCTTCTCCCTTCCCTTCCCCTCCCCTTCCTCTC TCCTTCCCCCTTCCCTTCTCCCTTCCCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02027.hp2 HG02055.hp1 others(12): Show HG00741.hp1 HG02027.hp2 HG02055.hp1 HG02056.hp1 HG02258.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG03139.hp1 HG03453.hp1 HG03579.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0006 a0008c0012 a0001c0001 a0002c0006 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0002c0006t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0006t0002 a0008c0012t0001	a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0092 others(12): Show a0001c0001t0001g0005 a0001c0001t0001g0041 a0001c0001t0001g0092 a0001c0001t0001g0149 a0001c0001t0001g0272 a0001c0001t0001g0289 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0287 a0002c0006t0002g0286 a0008c0012t0001g0151	15	328	0.0457	179	c.845 others(196): Show c.845-1779_845-1778insTCCCTTCCCCCTTCCCTTCTCCCTTCCC TTCTCCCTTCCCTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCC CCCTTCCCTTCTCCCTTCCCTTCTCCCTTCCCCCTTCCCTTCTCCCTTCC CTTCCCCTCCCCTTCCTCTCTCCTTCCCCCTTCCCTTCTCCCTTCCCTTC C	PRIMPOL	ENSG00000164306.11	transcript	ENST00000314970.11	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr4	TogoVar
PSME4_chr2_53859069_53975993	53940944	T T	TATATAAT others(172): Show TATATAATACATATTTAAATATATATAATACATATTTAAATATATATATA TATAATACATATTTAAATATATATAATACATATTTAAATATATATATATA ATACATATTTAAATATATATAATACATATTTAAATATATATATAATACAT ATTTAAATATATATATATATACATATTTAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0152 a0002c0003t0002g0152	1	384	0.0026	179	c.501 others(194): Show c.501-945_501-944insTTAAATATGTATATATATATATATTTAAAT ATGTATTATATATATATTTAAATATGTATTATATATATTTAAATATGTAT TATATATATATATTTAAATATGTATTATATATATTTAAATATGTATTATA TATATATATATTTAAATATGTATTATATATATTTAAATATGTATTATAT	PSME4	ENSG00000068878.15	transcript	ENST00000404125.6	protein_coding	3/46			chr2	TogoVar
PTGIS_chr20_49498874_49573137	49536479	T T	TTTCTTTC others(172): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0157 a0001c0001t0069g0157	1	316	0.0032	179	c.673 others(196): Show c.673+3090_673+3091insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA A	PTGIS	ENSG00000124212.6	transcript	ENST00000244043.5	protein_coding	5/9			chr20	TogoVar
PTPN12_chr7_77532295_77645069	77534008	A A	ACTGGCCG others(172): Show ACTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAG AGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCGGGATGGGGGGGGCTG ACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CGCCCCCCACCTCCCTCCCGGACGGGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	310	0.0032	179	c.-35 others(190): Show c.-3539_-3538insCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCG GGATGGGGGGGGCTGACCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGC CGGGCGGGGGGCTGACGCCCCCCACCTCCCTCCCGGACGGGGCGG	PTPN12	ENSG00000127947.16	transcript	ENST00000248594.11	protein_coding		3286		chr7	TogoVar
PTPRG_chr3_61556571_62302609	61671742	G G	GGACGGGG others(172): Show GGACGGGGCGGCTGGCTGGGTGGGGGGCTGACCCCCCCACCTCCCTCCCG GATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0048 a0003c0004t0001g0048	1	94	0.0106	179	c.86- others(196): Show c.86-77121_86-77120insTGGGTGGGGGGCTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGCGGGGGCTGACCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGG C	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTTG1IP_chr21_44844598_44878690	44863310	G G	GACACAGC others(172): Show GACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCT CAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGAGACACAGCCC ACCACGGCCTCAGCAGCAGAGACACAGCCCACCACGGCCTCAGCAGCAGA GACACAGCCCACCACGGCCTCAGCAGCAGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03098.hp1 others(1): Show HG02895.hp2 HG02897.hp2 HG03098.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0026 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0026 a0001c0001t0008g0086 a0001c0001t0008g0087	4	444	0.0090	179	c.169 others(196): Show c.169-2040_169-2039insTCTGCTGCTGAGGCCGTGGTGGGCTGTG TCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTG GTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTGTCTCTGCTGC TGAGGCCGTGGTGGGCTGTGTCTCTGCTGCTGAGGCCGTGGTGGGCTGTG T	PTTG1IP	ENSG00000183255.12	transcript	ENST00000330938.8	protein_coding	2/5			chr21	TogoVar
RAB11FIP3_chr16_420649_528011	468203	A A	AGTCAGGG others(172): Show AGTCAGGGAGGAGGTGCAGGGGCGTCAGGGAGGAGATGCTGGGACGTCAG GGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGA GGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCT GGGGCGTCAGGGAGGAGGAGGTCCTGGGGC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02970.hp2 HG02717.hp1 HG02970.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0017 a0001c0001 a0009c0017	a0001c0001t0008 a0009c0017t0037 a0001c0001t0008 a0009c0017t0037	a0001c0001t0008g0294 a0009c0017t0037g0100 a0001c0001t0008g0294 a0009c0017t0037g0100	2	295	0.0068	179	c.809 others(196): Show c.809-3076_809-3075insAGGGGCGTCAGGGAGGAGATGCTGGGAC GTCAGGGAGGAGGTCCTTGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGG GAGGAGGTGCTGGGGCGTCAGGGAGGAGGTGCTGGGGCGTCAGGGAGGAG GTGCTGGGGCGTCAGGGAGGAGGAGGTCCTGGGGCGTCAGGGAGGAGGTG C	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504394	C C	CCCCCCTC others(172): Show CCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCCTCACCTCCTCCTGTA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0102 a0002c0003t0011g0102	1	295	0.0034	179	c.139 others(198): Show c.1396-1118_1396-1117insCTCCTGTACCCCCCTCACCTCCTCCT GTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTA CCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCAC CTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(172): Show TATATATAATACATAATATATATTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATGCATTATATTTTATATAATA TAGATAATACATTATATATATTATATAATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0019 a0001c0001t0009g0019	1	220	0.0046	179	c.24+ others(196): Show c.24+13898_24+13899insTTATATAATATATATAATACATTATATA TATTATATAATATATATAATACATTATATATATTATATAATATATATAAT ACATTATATATATTATATAATATATATAATGCATTATATTTTATATAATA TAGATAATACATTATATATATTATATAATAATATATAATACATAATATAT A	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBM19_chr12_113817057_113971325	113872699	T T	TGGGGGGG others(172): Show TGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0021 a0003c0005t0001g0021	1	356	0.0028	179	c.255 others(200): Show c.2559-13804_2559-13803insCCACCTCCCTCCCGGACGGGGCGG CTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAG GCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC CCCCC	RBM19	ENSG00000122965.11	transcript	ENST00000261741.10	protein_coding	21/23			chr12	TogoVar
RCHY1_chr4_75474033_75519403	75487682	T T	TATATATA others(172): Show TATATATATTCATATATATATTCATAATATATATTCATATATATATATTC ATAATATATATTCATATATATATTCATAATATATATTCATATATATATAT TCATAATATATATTCATATATATATTCATAATATATATTCATATATATAT TCATAATATATATTCATATATATATTCATA	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0127 a0001c0001t0003g0127	1	406	0.0025	179	c.657 others(196): Show c.657+2898_657+2899insTATGAATATATATATGAATATATATTAT GAATATATATATGAATATATATTATGAATATATATATGAATATATATTAT GAATATATATATATGAATATATATTATGAATATATATATGAATATATATT ATGAATATATATATATGAATATATATTATGAATATATATATGAATATATA T	RCHY1	ENSG00000163743.14	transcript	ENST00000324439.10	protein_coding	8/8			chr4	TogoVar
RCOR1_chr14_102587649_102735561	102676508	C C	CCCCCCCC others(172): Show CCCCCCCCCCCCCCCCCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCC ACCTCCCTCCCGGACGGGGCGGCTGGCCGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 NA19010.hp2 HG02080.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0042 a0001c0001t0016 a0001c0001t0042	a0001c0001t0016g0281 a0001c0001t0042g0228 a0001c0001t0016g0281 a0001c0001t0042g0228	2	292	0.0069	179	c.362 others(196): Show c.362-5379_362-5378insCCCCCCCCCCCCCCGCCTCCCTCCCGGA CGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGCGGGG GGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGACCCCCCC C	RCOR1	ENSG00000089902.10	transcript	ENST00000262241.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
RGPD5_chr2_109789305_109862705	109823570	T T	TTCTTTTC others(172): Show TTCTTTTCTTTTCTCTTCTCTTCTCTTCTCTTCTCTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0018 a0018	a0018c0021 a0018c0021	a0018c0021t0002 a0018c0021t0002	a0018c0021t0002g0032 a0018c0021t0002g0032	1	40	0.0250	179	c.127 others(196): Show c.1277-648_1277-647insTTCTTTTCTCTTCTCTTCTCTTCTCTTC TCTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTCT T	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	9/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNASE10_chr14_20500537_20518884	20506780	C C	CCGCCCGG others(172): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCC CCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0066 a0001c0001t0011g0066	1	396	0.0025	179	c.-6+ others(192): Show c.-6+761_-6+762insCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAG GTGGGGGGATCAGCCCCCCTCCTGGCCAGCCGCCCCGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	RNASE10	ENSG00000182545.7	transcript	ENST00000430083.2	protein_coding	1/1			chr14	TogoVar
RNF223_chr1_1065967_1079306	1076622	G G	GTCTATGG others(172): Show GTCTATGGGGACTCCGTGAGGGGTGGCTGAGTCTATGGGGACTCCGTGCG GGGAGGGCTGATGCTATGGGACTCGTGCGGGGTGGCTGAGCGTATGGGGA CTCCGTGCCGGGAGGCTGAGTCTATGGGGACTCCGGTGCCGGGAGGCGAG TCTATGGGGACTCCATGGGGGGGGGAGCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	324	0.0031	179	c.-26 others(190): Show c.-2617_-2616insTAGCTCCCCCCCCCATGGAGTCCCCATAGACTCG CCTCCCGGCACCGGAGTCCCCATAGACTCAGCCTCCCGGCACGGAGTCCC CATACGCTCAGCCACCCCGCACGAGTCCCATAGCATCAGCCCTCCCCGCA CGGAGTCCCCATAGACTCAGCCACCCCTCACGGAGTCCCCATAGA	RNF223	ENSG00000237330.3	transcript	ENST00000453464.3	protein_coding		2317		chr1	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(172): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02622.hp1 HG03195.hp1 others(1): Show HG01243.hp2 HG02622.hp1 HG03195.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0011 a0001c0002 a0001c0005 a0001c0011	a0001c0002t0004 a0001c0002t0049 a0001c0005t0013 others(1): Show a0001c0002t0004 a0001c0002t0049 a0001c0005t0013 a0001c0011t0023	a0001c0002t0004g0005 a0001c0002t0049g0004 a0001c0005t0013g0006 others(1): Show a0001c0002t0004g0005 a0001c0002t0049g0004 a0001c0005t0013g0006 a0001c0011t0023g0007	4	268	0.0149	179	c.-51 others(190): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
RPH3AL_chr17_207389_357807	340698	G G	GCCCAGGC others(172): Show GCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCC ACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCAATCTCACTGCCCCGA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp2 HG02723.hp1 others(2): Show HG02559.hp1 HG02572.hp2 HG02723.hp1 HG03516.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0006	a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0006g0095 others(2): Show a0001c0001t0001g0119 a0001c0001t0005g0132 a0001c0001t0006g0095 a0001c0001t0027g0118 a0001c0002t0006g0060	5	133	0.0376	179	c.-21 others(198): Show c.-212-6765_-212-6764insTCGGGGCAGTGAGATTGGATGTGGGG AGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGA GGCAGTGAGTGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGG ACGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCT GGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340772	C C	CCAGGCCT others(172): Show CCAGGCCTCCCCACATCCAATCTCACTGCCCCGACCCAGGCCTCCCCACA TCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCCACACTCACTGT CCCCCACCCAGGCTTCCCCACATCCACACTCACTGCCCCCCACCCAGGCC TCCCCACATCCACACTCACTGCCCCGGGCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0015 a0001c0001t0010g0015	1	133	0.0075	179	c.-21 others(198): Show c.-212-6839_-212-6838insAGCCCGGGGCAGTGAGTGTGGATGTG GGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAAGCCTGGGTG GGGGACAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGCAGTGAGTG TGGATGTGGGGAGGCCTGGGTCGGGGCAGTGAGATTGGATGTGGGGAGGC CTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPSA2_chr19_23758004_23833868	23761901	A A	ATCCTTCC others(172): Show ATCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0097 a0003c0003t0097	a0003c0003t0097g0184 a0003c0003t0097g0184	1	366	0.0027	179	c.-15 others(190): Show c.-1536_-1535insTCCTTCCTTCCTCCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCC	RPSA2	ENSG00000288920.1	transcript	ENST00000484897.4	protein_coding		1102		chr19	TogoVar
RTN1_chr14_59590983_59875776	59774599	T T	TAAAAACA others(172): Show TAAAAACACATGAAACCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAA AAAAAAAAAAAAAAAAAAGAAAAAGCCTCACCCTGGCTGGGTGTGGTGGC TCACGCCTGAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0040 a0003c0004t0001g0040	1	172	0.0058	179	c.242 others(198): Show c.242-28119_242-28118insTTTTTTTTTTTTTTTTTTTTTCAGGC GTGAGCCACCACACCCAGCCAGGGTGAGGCTTTTTCTTTTTTTTTTTTTT TTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGT TAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGGTTTCATGTGTT TTT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RTN4IP1_chr6_106565771_106634498	106589237	G G	GGAGGAGG others(172): Show GGAGGAGGGAGGGAGGAGGAGGGAGGGAGAGGAGGGAGGGGGAGGAGGGA GGGGGAGGGGGAGGAGGGAGGGGGAGAAGGGGGAGAAGAAGGAGAAGAGG AAGAGGAAGAAGAGGAAGAGGAAGAGGAAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAAGGAGGAGGAGGAGAA	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0212 a0001c0003t0004g0212	1	396	0.0025	179	c.807 others(196): Show c.807-1376_807-1375insTTCTCCTCCTCCTCCTTCTCCTCCTCCT TCTCCTCCTCCTCCTTCTCCTCCTTCCTCTTCCTCTTCCTCTTCTTCCTC TTCCTCTTCTCCTTCTTCTCCCCCTTCTCCCCCTCCCTCCTCCCCCTCCC CCTCCCTCCTCCCCCTCCCTCCTCTCCCTCCCTCCTCCTCCCTCCCTCCT C	RTN4IP1	ENSG00000130347.13	transcript	ENST00000369063.8	protein_coding	6/8			chr6	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(172): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0248 a0001c0003t0002g0248	1	376	0.0027	179	c.-58 others(186): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(172): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCG CGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG01106.hp2 homoSapiens_chm13v2.hp1 HG00733.hp1 HG01106.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0253 a0001c0003t0002g0242 a0001c0003t0002g0243 a0001c0003t0002g0253	3	376	0.0080	179	c.-58 others(186): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
SBNO2_chr19_1102638_1179268	1137816	G G	GGGGGGAG others(172): Show GGGGGGAGGCTCGGGCTGGGGTGCAGTGGGGGGAGGCTCGGGCTGGGGTG CAGTGGGGGGAGGCTCAGGCTGGGGGGAGGCTCGGGCTGGGGTGCGGTGG GGGGAGGCTCGGGCTGGGGTGCGGTGGGGGGAGGCTCGGGCTGGGGTGCG GTGGGGGGAGGCTCGGGCTGGGGTGCAGTA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0127 a0002c0003t0001g0127	1	203	0.0049	179	c.279 others(196): Show c.279+9492_279+9493insTACTGCACCCCAGCCCGAGCCTCCCCCC ACCGCACCCCAGCCCGAGCCTCCCCCCACCGCACCCCAGCCCGAGCCTCC CCCCACCGCACCCCAGCCCGAGCCTCCCCCCAGCCTGAGCCTCCCCCCAC TGCACCCCAGCCCGAGCCTCCCCCCACTGCACCCCAGCCCGAGCCTCCCC C	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SERPINA5_chr14_94576426_94598118	94591094	T T	TCACTCTA others(172): Show TCACTCTATTCAGTTCCACTCCACTCCACTCCACTCCAGTTCACTCTATT CCATTCCACTCCATTCCACTCCTCCACTCCTCTCATCCACTCCACTCTAC TCCTCCACTCCACATCTCCACTCCACTCCTCCACTCCACTCCTCCACTCC ACTCATCCACTCCACTCCTCCACTCCACTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02572.hp1 HG02896.hp2 others(5): Show HG02257.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG03579.hp1 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0051 a0002c0002t0008g0122 a0002c0002t0008g0165 others(4): Show a0002c0002t0008g0051 a0002c0002t0008g0122 a0002c0002t0008g0165 a0002c0002t0008g0172 a0002c0002t0008g0173 a0002c0002t0008g0270 a0002c0002t0008g0292	8	464	0.0172	179	c.103 others(196): Show c.1038+200_1038+378dupACTCTATTCAGTTCCACTCCACTCCACT CCACTCCAGTTCACTCTATTCCATTCCACTCCATTCCACTCCTCCACTCC TCTCATCCACTCCACTCTACTCCTCCACTCCACATCTCCACTCCACTCCT CCACTCCACTCCTCCACTCCACTCATCCACTCCACTCCTCCACTCCACTC C	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(172): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	214	0.0047	179	c.691 others(198): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCT TCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13131933	T T	TTGTTCTC others(172): Show TTGTTCTCCCTAATTACAAACATTAGTCACTGTTTAGTCTTCAGTCCTGA CAGCTTTTTTCCTGCAAAAACCTATACAAGTGCAAACTCCTTGCTTTGCT GAGTTCTAATCACAGCGACAAGCACAGGACAATGTGTCTGTTTCTAAAAA TGAATGTATCAGCCAGAACAGAAACCCTCC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0129 a0001c0001t0038g0129	1	214	0.0047	179	c.692 others(198): Show c.692-71460_692-71282dupTGTTCTCCCTAATTACAAACATTAGT CACTGTTTAGTCTTCAGTCCTGACAGCTTTTTTCCTGCAAAAACCTATAC AAGTGCAAACTCCTTGCTTTGCTGAGTTCTAATCACAGCGACAAGCACAG GACAATGTGTCTGTTTCTAAAAATGAATGTATCAGCCAGAACAGAAACCC TCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401785	G G	GGCCCCGC others(172): Show GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCG CTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCA CCCCCAGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp1 HG03704.hp1 HG00735.hp1 HG01975.hp1 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0131 a0001c0001t0001g0148 a0003c0005t0001g0016 a0001c0001t0001g0131 a0001c0001t0001g0148 a0003c0005t0001g0016	3	242	0.0124	179	c.41 others(190): Show c.4110_*4111insGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCCG GGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3930		chr11	TogoVar
SLC12A7_chr5_1045384_1117063	1070348	C C	CAGCCCCC others(172): Show CAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGG GCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACA CGGGCATCACACTTATGCAGCCCCAGTGAGCCCCCAGTGAGCCCCCAGCA CACGGCATCACACTTATGCAGCCCCCAGTG	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0008 a0008	a0008c0036 a0008c0036	a0008c0036t0001 a0008c0036t0001	a0008c0036t0001g0097 a0008c0036t0001g0097	1	118	0.0085	179	c.224 others(198): Show c.2241+3284_2241+3285insCACTGGGGGCTGCATAAGTGTGATGC CGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGCTGCATAAGTGTGATG CCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTGCATAAGTGTG ATGCCCGTGTGCTGGGGGCTCACTGGGGGCTCACTGGGGGCTCACTGGGG GCT	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC22A23_chr6_3263973_3462050	3402417	G G	GACCCCAA others(172): Show GACCCCAATCACCCACACTACCCAGAGCGCACTAGGCTCCAGCTGACACC ACAATCACCCACACTACCCAGAGTGCACTAGGCCCCAGCCAACCCCAATC ACCAACACTACCCAGAGTGCACTAGGCTCTAGCTAAGCCCTAATCACCCA CACTACCCAGAGTGCACTAGGCCCCAGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	222	0.0045	179	c.913 others(196): Show c.913+7770_913+7771insTGGCTGGGGCCTAGTGCACTCTGGGTAG TGTGGGTGATTAGGGCTTAGCTAGAGCCTAGTGCACTCTGGGTAGTGTTG GTGATTGGGGTTGGCTGGGGCCTAGTGCACTCTGGGTAGTGTGGGTGATT GTGGTGTCAGCTGGAGCCTAGTGCGCTCTGGGTAGTGTGGGTGATTGGGG T	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC25A46_chr5_110734007_110770157	110750213	T T	TAGAAAGG others(172): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02109.hp2 HG02155.hp1 others(17): Show HG02074.hp2 HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02280.hp2 HG02630.hp1 HG02698.hp2 HG02895.hp2 HG02976.hp2 HG03017.hp1 HG03704.hp1 NA18612.hp1 NA18954.hp1 NA18966.hp1 NA18967.hp2 NA18985.hp2 NA19060.hp1 NA19064.hp1 NA19067.hp1 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0003 a0001c0002t0012 a0001c0002t0002 a0001c0002t0003 a0001c0002t0012	a0001c0002t0002g0030 a0001c0002t0002g0053 a0001c0002t0003g0009 others(7): Show a0001c0002t0002g0030 a0001c0002t0002g0053 a0001c0002t0003g0009 a0001c0002t0003g0014 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0094 a0001c0002t0003g0118 a0001c0002t0012g0009 a0001c0002t0012g0020	20	386	0.0518	179	c.563 others(196): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGGT C	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(172): Show TAGAAAGGTCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGG CGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCA GTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0014 a0002c0003t0014	a0002c0003t0014g0148 a0002c0003t0014g0148	1	386	0.0026	179	c.563 others(196): Show c.563+1959_563+1960insTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCCACCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAAAGGT C	SLC25A46	ENSG00000164209.17	transcript	ENST00000355943.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar

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