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
SMYD3_chr1_245744347_246512279	246325049	A A	AGGAAGGA others(221): Show AGGAAGGAGGGAGAAGGAGTCGGGGGGGCAGGAAGGAGGGAGAAGGAGTC GCGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGAGGGAGA AGGAGTCGGGGGGCAGGAAGGAGGGAGAAGGAGTCGGGGGGCAGGAAGGA GGGAGAAGGAGTCGGGGGGGCGGGAAGGAGGGAGAAGGAGTCGGGGGGGC GGGAAGGAGGGAGAAGGAGTCGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG02280.hp1 others(1): Show HG01175.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0001t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 others(1): Show a0001c0001t0001g0047 a0001c0001t0002g0017 a0001c0001t0002g0023 a0001c0009t0001g0002	4	150	0.0267	228	c.531 others(245): Show c.531+2151_531+2152insCGCCCCCCGACTCCTTCTCCCTCCTTCC CGCCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCCCGACTCCTTCTCC CTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCTGCCCCCCGACTCC TTCTCCCTCCTTCCTGCCCCCCGACTCCTTCTCCCTCCTTCCCGCCCCCG CGACTCCTTCTCCCTCCTTCCTGCCCCCCCGACTCCTTCTCCCTCCTTCC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1342476	T T	TCCCCCTG others(221): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAG GACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCGCACTTTTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0051 a0002c0003t0001g0051	1	190	0.0053	228	c.148 others(249): Show c.1489-24863_1489-24862insCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCTGTTCTGGGC ACGCCTGGCCCAGCTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343614	T T	TCCCCTGT others(221): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCACACTTTTC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0088 a0004c0004t0001g0088	1	190	0.0053	228	c.148 others(249): Show c.1489-23688_1489-23687insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1343848	T T	TCTGGGCA others(221): Show TCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCAC ACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTCACACTTTTCCCCCTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02602.hp1 HG00099.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0092 a0002c0003t0001g0138 a0002c0003t0001g0092 a0002c0003t0001g0138	2	190	0.0105	228	c.148 others(249): Show c.1489-23462_1489-23461insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTGCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344180	T T	TCCCCTGT others(221): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCACACTTTTC	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18990.hp1 HG02735.hp2 NA18990.hp1	a0002 a0002	a0002c0003 a0002c0022 a0002c0003 a0002c0022	a0002c0003t0001 a0002c0022t0001 a0002c0003t0001 a0002c0022t0001	a0002c0003t0001g0099 a0002c0022t0001g0155 a0002c0003t0001g0099 a0002c0022t0001g0155	2	190	0.0105	228	c.148 others(249): Show c.1489-23122_1489-23121insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344188	T T	TCTGGGCA others(221): Show TCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCAC TGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCAC ACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGG CAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGG AAGAGTGGACTCACACTTTTCCCCCTGTG	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA20300.hp1 HG01975.hp1 NA20300.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0030 a0002c0003t0001g0183 a0002c0003t0001g0030 a0002c0003t0001g0183	2	190	0.0105	228	c.148 others(249): Show c.1489-23122_1489-23121insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCACACTTTTCCCCCTGTGCTGGGCACGCCTGGCCCAGCTCTGTAGGA CAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344293	T T	TCCCCTGT others(221): Show TCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTT CCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGT GGACTCACACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAG GACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACA TGCATAGGAAGAGTGGACTCACACTTTTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18963.hp1 NA18986.hp2 HG02165.hp2 NA18963.hp1 NA18986.hp2	a0002 a0020 a0002 a0020	a0002c0003 a0020c0032 a0002c0003 a0020c0032	a0002c0003t0001 a0020c0032t0001 a0002c0003t0001 a0020c0032t0001	a0002c0003t0001g0161 a0002c0003t0001g0171 a0020c0032t0001g0059 a0002c0003t0001g0161 a0002c0003t0001g0171 a0020c0032t0001g0059	3	190	0.0158	228	c.148 others(249): Show c.1489-23010_1489-23009insCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCACACTTTTC CCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCACACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGG ACAG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1344647	A A	ACGCCTGG others(221): Show ACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACT TTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC CCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTC CTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTG GACTCGCACTTTTCCCCCTGTTCTGGGCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02602.hp1 HG00099.hp1 HG02602.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0092 a0002c0003t0001g0138 a0002c0003t0001g0092 a0002c0003t0001g0138	2	190	0.0105	228	c.148 others(249): Show c.1489-22670_1489-22669insGGCAGCTTCCTCTCACTGGGACTT TTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCC CCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCC TCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGG ACTCGCACTTTTCCCCCTGTTCTGGGCGCGCCTGGCCCAGCTCTGTAGGA CAGC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345078	C C	CGCACTTT others(221): Show CGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAG CAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCAT AGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCA GCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGA AGCAGGACATGCATAGGAAGAGTGGACTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0037 a0005c0015t0001g0037	1	190	0.0053	228	c.148 others(249): Show c.1489-22253_1489-22252insCTGTTCTGGGCACGCCTGGCCCAG CTCTGTAGGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAA GCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGG CACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGAC TTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTT CCCC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1345309	C C	CTTTTCCC others(221): Show CTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGC AGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGA AGAGTGGACTGGCACTTTTCCCCTGTTCTGGGCACGCCTGGCCCAGCTCT GTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAG GACATGCATAGGAAGAGTGGACTCGCACT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0009 a0009	a0009c0029 a0009c0029	a0009c0029t0001 a0009c0029t0001	a0009c0029t0001g0152 a0009c0029t0001g0152	1	190	0.0053	228	c.148 others(249): Show c.1489-22031_1489-22030insTCCCCCTGTTCTGGGCACGCCTGG CCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAATTT GGGAAGCAGGACATGCATAGGAAGAGTGGACTGGCACTTTTCCCCTGTTC TGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTG GGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCAC TTTT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS2_chr4_7187538_7747827	7448843	T T	TCTCCCTC others(221): Show TCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTC TTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTC CCTCCCTTCCTCCCTCTCTTCCTCCCTCC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0011 a0001c0015t0011	a0001c0015t0011g0015 a0001c0015t0011g0015	1	168	0.0060	228	c.548 others(247): Show c.548+52490_548+52491insCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCTTTTCC CTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTT CCCTCTCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCC CT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448890	C C	CCCTTCCT others(221): Show CCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC CCTTCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCCCTCCCTTCCT GTCTTTTCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCC CTCCCTCCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTCCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0095 a0002c0004t0003g0095	1	168	0.0060	228	c.548 others(247): Show c.548+52538_548+52539insTCCTCTTTTCCCTCTCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCTCTTTT CCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTCCTCTT TTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTCTTCCT CCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTC CT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7661241	T T	TGCAGAGA others(221): Show TGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCC AACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGC TCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAA AACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACT CCAACCCCCTCAGCTCACTCAAGGAAAAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0038 a0001c0038t0038	a0001c0038t0038g0128 a0001c0038t0038g0128	1	168	0.0060	228	c.888 others(243): Show c.888-170_888-169insCCCCCTCAGCTCACTCAAGGAAAACGCAGA GACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCC CTCAGCTCACTCAAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTC AAGGAAAACGCAGAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCA GAGACTCCAACCCCCTCAGCTCACTCAAGGAAAACGCAGAGACTCCAA	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPAAR_chr9_35904490_35916686	35906598	A A	ACCACCAC others(221): Show ACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCAC CCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCA CACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTC ACCACCTCCACCACCACCACCACCACCCCCGCCACACCCCTCACCACCTC CACCACCACCACCACCACCACCACCACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	420	0.0024	228	c.-32 others(239): Show c.-3274_-3273insCCACCACCCCCGCCACACCCCTCACCACCTCCAC CACCACCACCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCA CCACCACCCCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACC CCCGCCACACCCCTCACCACCTCCACCACCACCACCACCACCCCCGCCAC ACCCCTCACCACCTCCACCACCACCACCACCACCACCACCACCC	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2891		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24189682	T T	TTATATAT others(221): Show TTATATATATAATATGTAATATATTATATATATTTATATATATGTAATAT ATTATATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATATTTATATATATAATATGTAATATA TTATATATATTTATATATATAATATGTAATATATTATATATAAAAGTATA TATAATATATAATATATTATATATAAAAG	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0130 a0001c0013t0130	a0001c0013t0130g0197 a0001c0013t0130g0197	1	356	0.0028	228	c.-11 others(249): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATGTAATATATTATATATATTTATATATATAATATGTAATAT ATTATATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATATTTATATATATAATATGTAATATA TTATATATAAAAGTATATATAATATATAATATATTATATATAAAAGTATA TATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24189683	T T	TATATATA others(221): Show TATATATATAATATGTAATATATTATATATATTTATATATATATGTAATA TATTATATATATTTATATATATAATATGTAATATATTATATATTTATATA TATAATATGTAATATATTATATATATTTATATATATAATATGTAATATAT TATATATATTTATATATATAATATGTAATATATTATATATAAAAGTATAT ATAATATATAATATATTATATATAAAAGC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0037 a0001c0002 a0002c0037	a0001c0002t0013 a0002c0037t0043 a0001c0002t0013 a0002c0037t0043	a0001c0002t0013g0202 a0002c0037t0043g0038 a0001c0002t0013g0202 a0002c0037t0043g0038	2	356	0.0056	228	c.-11 others(249): Show c.-112+28758_-112+28759insTAATATGTAATATATTATATATAT TTATATATATATGTAATATATTATATATATTTATATATATAATATGTAAT ATATTATATATTTATATATATAATATGTAATATATTATATATATTTATAT ATATAATATGTAATATATTATATATATTTATATATATAATATGTAATATA TTATATATAAAAGTATATATAATATATAATATATTATATATAAAAGCATA TATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTT CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	228	c.54 others(239): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGG GAGGGAAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	228	c.54 others(239): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	228	c.54 others(239): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	228	c.54 others(239): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(221): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCCAC CACCCTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCC CTCCCCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	418	0.0024	228	c.54 others(239): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGG AAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCK3_chr4_166728384_167239494	167108995	T T	TATAAAAA others(221): Show TATAAAAATATATATAAATATATATTTATATAAAAATATATATAAATATA TATATATAAAAATATATATAAATATATATTTATATAAAAATATATATAAA TATATATTTATATAAAAATATATATAAATATATATTTATATAAAAATATA TATAAATATATATTTATATAAAAATATATATAAATATATATTTATATATA AATATATATAAATATATATTTATATAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	144	0.0069	228	c.190 others(247): Show c.190-46459_190-46458insTTTTATATAAATATATATTTATATAT ATTTATATATAAATATATATTTATATATATTTTTATATAAATATATATTT ATATATATTTTTATATAAATATATATTTATATATATTTTTATATAAATAT ATATTTATATATATTTTTATATAAATATATATTTATATATATTTTTATAT ATATATATTTATATATATTTTTATATAAATATATATTTATATATATTTTT AT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SUN1_chr7_827476_879934	868480	A A	ATGTTGGT others(221): Show ATGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGA TTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGT GCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTG TGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCG GATGGGGGGGCAGTGCTGGTTCCCTGTGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0255 a0001c0004t0002g0255	1	418	0.0024	228	c.198 others(245): Show c.1981-819_1981-818insTGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGG GGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868480	A A	ATGTTGGT others(221): Show ATGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGA TTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGT GCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTG TGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCG GATTGGGGGGCAGTGCTGGTTCCCTGTGG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG02056.hp1 others(29): Show HG00544.hp2 HG00621.hp1 HG02056.hp1 HG02132.hp2 HG03927.hp1 NA18612.hp1 NA18939.hp2 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18955.hp1 NA18957.hp2 NA18960.hp1 NA18962.hp1 NA18972.hp1 NA18973.hp2 NA18978.hp2 NA18979.hp1 NA18982.hp2 NA18999.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp1 NA19012.hp1 NA19056.hp2 NA19064.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA19088.hp1	a0001 a0010 a0001 a0010	a0001c0004 a0010c0014 a0001c0004 a0010c0014	a0001c0004t0002 a0001c0004t0008 a0001c0004t0022 others(2): Show a0001c0004t0002 a0001c0004t0008 a0001c0004t0022 a0001c0004t0023 a0010c0014t0002	a0001c0004t0002g0008 a0001c0004t0002g0026 a0001c0004t0002g0241 others(26): Show a0001c0004t0002g0008 a0001c0004t0002g0026 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0243 a0001c0004t0002g0244 a0001c0004t0002g0245 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0002g0250 a0001c0004t0002g0251 a0001c0004t0002g0252 a0001c0004t0002g0253 a0001c0004t0002g0254 a0001c0004t0002g0256 a0001c0004t0002g0257 a0001c0004t0002g0258 a0001c0004t0002g0260 a0001c0004t0002g0261 a0001c0004t0002g0262 a0001c0004t0002g0263 a0001c0004t0002g0264 a0001c0004t0002g0265 a0001c0004t0002g0268 a0001c0004t0002g0269 a0001c0004t0008g0270 a0001c0004t0022g0246 a0001c0004t0023g0267 a0010c0014t0002g0266	32	418	0.0766	228	c.198 others(245): Show c.1981-819_1981-818insTGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGG GGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868531	G G	GGGGGGGC others(221): Show GGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTG CTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGT GGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGG ATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAG TGCTGGTTCCCTGTGGTGTTGGTCGGATT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02717.hp1 HG01243.hp2 HG02717.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0037 a0001c0006t0012g0038 a0001c0006t0012g0037 a0001c0006t0012g0038	2	418	0.0048	228	c.198 others(245): Show c.1981-667_1981-666insGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTG GGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGG TGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SVEP1_chr9_110360248_110584741	110405481	A A	TTGTATTA others(221): Show TTGTATTATGAATACCTACGTGGACTCAGATACTAGTAGGAATACAGCAT AATTAATATGTATTATGAATACCTACGTGGACTCAGATACTAGTAGGAAT ACAGCATAATTAATATGTATTATGAATACCTACGTGGACTCAGATACTAG TAGGAATACAGCATAATTAATATGTATTATGAATACCTACATGGACTCAG ATACTAGTAGGAATACAGCATAATTAATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG02055.hp1 HG03041.hp1	a0042 a0042	a0042c0058 a0042c0058	a0042c0058t0001 a0042c0058t0013 a0042c0058t0001 a0042c0058t0013	a0042c0058t0001g0206 a0042c0058t0013g0130 a0042c0058t0001g0206 a0042c0058t0013g0130	2	362	0.0055	228	c.944 others(245): Show c.9440+679_9440+680insATTAATTATGCTGTATTCCTACTAGTAT CTGAGTCCATGTAGGTATTCATAATACATATTAATTATGCTGTATTCCTA CTAGTATCTGAGTCCACGTAGGTATTCATAATACATATTAATTATGCTGT ATTCCTACTAGTATCTGAGTCCACGTAGGTATTCATAATACATATTAATT ATGCTGTATTCCTACTAGTATCTGAGTCCACGTAGGTATTCATAATACAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	38/47			chr9	TogoVar
TARS3_chr15_101648596_101729473	101655084	C C	CGGGGAGC others(221): Show CGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAA ATGAGAGGGGGGAGCTCTTACAGGCTCACACTGACTCCACCTGGCACTAG GGCGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACACTGACCCCACCTG GCACTAGGGTGCAAATGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACT CCACCTGGCACTAGGGCGCAGATGAGAGT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	278	0.0036	228	c.226 others(245): Show c.2261-355_2261-354insACTCTCATCTGCGCCCTAGTGCCAGGTG GAGTCACTGTGAGCCTGTAAGAGCTCCCCCCTCTCATTTGCACCCTAGTG CCAGGTGGGGTCAGTGTGAGCCTGTAAGAGCTCCCCGCTCTCATTTGCGC CCTAGTGCCAGGTGGAGTCAGTGTGAGCCTGTAAGAGCTCCCCCCTCTCA TTTGCACCCTAGTGCCAGGTGGGGTCAGTGTGAGCCTGTAAGAGCTCCCC	TARS3	ENSG00000185418.16	transcript	ENST00000335968.8	protein_coding	18/18			chr15	TogoVar
TBC1D16_chr17_79927343_80040872	79929970	T T	TCCCCTCC others(221): Show TCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCTCTCCCCTCCTCTCCCC TCTCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCC TCCCCTCCCCTCTCCTCTCCTCCTCTCCCCTCTCCTCCCCTCCCCTCCCC TCCCCTCCTCTCCCCTCCTCTCCCCTCTCCTCCCCTCCTCTCCCCTCCCC TCCCCTCCCCTCCCCTCTCCTCTCCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0113 a0001c0002t0113	a0001c0002t0113g0305 a0001c0002t0113g0305	1	334	0.0030	228	c.10 others(241): Show c.10888_*10889insGGGAGGAGAGGAGAGGGGAGGGGAGGGGAGGG GAGGGGAGAGGAGGGGAGGAGAGGGGAGAGGAGGGGAGAGGAGGGGAGGG GAGGGGAGGGGAGGAGAGGGGAGAGGAGGAGAGGAGAGGGGAGGGGAGGA GAGGAGAGGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGAGAGGG GAGAGGAGGGGAGAGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGG	TBC1D16	ENSG00000167291.16	transcript	ENST00000310924.7	protein_coding		2372		chr17	TogoVar
TBC1D2B_chr15_77989985_78082711	77992796	C C	CACTCCCC others(221): Show CACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTC CCCCCCACTCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCC CCACTCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCACTCCCC CCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCAC TCCCCCCACTCCCCCCACTCCCCCCCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	280	0.0036	228	c.53 others(239): Show c.5363_*5364insAGTGGGGGGGAGTGGGGGGAGTGGGGGGAGTGGG GGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGA GTGGGGGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGG GAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGAGTGGGGGGGAGTG GAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGT	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2188		chr15	TogoVar
TBC1D2B_chr15_77989985_78082711	77992805	T T	TCCCCCCA others(221): Show TCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCCCACTCCCCCCCCACT CCACTCCCCCCCACTCCCCCCCACTCCCCCCCCACTCCACTCCCCCCCAC TCCCCCCCCACTCCACTCCCCCCCACTCCCCCCCACTCCCCCCCACTCCC CCCACTCCCCCCCACTCCCCCCACTCCCCCCCACTCCCCCCCACTCCCCC CCCACTCCCCCCCCACTCCCCCCCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0110 a0001c0001t0040g0110	1	280	0.0036	228	c.53 others(239): Show c.5354_*5355insGGAGTGGGGGGGAGTGGGGGGGGAGTGGGGGGGG AGTGGGGGGGAGTGGGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGAG TGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGGGGGGGGAGTGGG GGGGAGTGGAGTGGGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGAGTGG GGGGGGAGTGGGGGGAGTGGGGGGGAGTGGGGGGGAGTGGGGGG	TBC1D2B	ENSG00000167202.12	transcript	ENST00000300584.8	protein_coding		2179		chr15	TogoVar
TCF4_chr18_55217185_55593192	55586153	G G	GAGCAGCA others(221): Show GAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC AGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG CAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA GCAGCAGCAGCAGCAGCAGCAGCAGCAGC	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	122	0.0082	228	c.73- others(241): Show c.73-802_73-801insGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG CTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TCF4	ENSG00000196628.20	transcript	ENST00000354452.8	protein_coding	2/19			chr18	TogoVar
TCN2_chr22_30602174_30632271	30623875	C C	CACACATA others(221): Show CACACATATGTATACATATATACACACATATGTATACATATATACACACA CATATGTATACATATACACACACACATATGTATACATATATACACACACA CATATGTATACATATATACACACATATGTATACATATATACACACACATA TGTATACATATATACACACACATATATGTATACATATATACACACACATA TATGTATACATATATACACACATATGTAT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0220 a0003c0003t0007g0220	1	466	0.0022	228	c.122 others(245): Show c.1222+795_1222+796insCATATGTATACATATATACACACATATG TATACATATATACACACACATATGTATACATATACACACACACATATGTA TACATATATACACACACACATATGTATACATATATACACACATATGTATA CATATATACACACACATATGTATACATATATACACACACATATATGTATA CATATATACACACACATATATGTATACATATATACACACATATGTATACA	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TENM2_chr5_166974029_168269157	167515669	G G	GTATATAT others(221): Show GTATATATATACATATATATGTATATATATACACATATATACGTATATAT GTATATATATACACATATATACATATATATGTATATATATACACATATAT ACATATATATGTATATATATACACATATATACATATATATGTATATATAT ACACATATATACATATATATGTATATATATACACATATATACATATATAT GTATATATATACACATATATACATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0018 a0004c0009t0018	a0004c0009t0018g0033 a0004c0009t0018g0033	1	54	0.0185	228	c.502 others(249): Show c.502+140197_502+140198insATATATATACATATATATGTATAT ATATACACATATATACGTATATATGTATATATATACACATATATACATAT ATATGTATATATATACACATATATACATATATATGTATATATATACACAT ATATACATATATATGTATATATATACACATATATACATATATATGTATAT ATATACACATATATACATATATATGTATATATATACACATATATACATAT ATAT	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	4/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
TERT_chr5_1248167_1300068	1272573	C C	CCACACAT others(221): Show CCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACC CCTGTGACTGATCGCCATCCACAGTCACCACACATCAGACCCCACAACCG CCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCAC CACACATCAGACCCCTGTGACTGATCGCCATCCACAGTCACCACACATCA GACCCCACAACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG02055.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0229 a0001c0001t0004g0233	2	392	0.0051	228	c.228 others(245): Show c.2287-294_2287-293insTGGTGACTGTGGATGGCGGTTGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGATCAGTCACAGGGGTCTGATGTGT GGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATG GCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGATCAGTCACAG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TEX2_chr17_64142227_64268260	64219505	C C	CATAAAAT others(221): Show CATAAAATAAAATAACATAACATAAAATAAATAAAAAATAAAATAAAATA AAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATA AAATATAAAATAAAATATAAAATAAAATATAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATATAAAATAAAATATA AAATAAAATATAAAATAAAATAAAATAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0181 a0001c0002t0001g0181	1	224	0.0045	228	c.-25 others(245): Show c.-25-5264_-25-5263insTTTATTTTATTTTATTTTATATTTTATT TTATATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTTATTT TATTTTATTTTATTTTATTTTATATTTTATTTTATATTTTATTTTATATT TTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTTTTTATTTATTTTATGTTATGTTATTTTATTTTAT	TEX2	ENSG00000136478.9	transcript	ENST00000584379.6	protein_coding	1/11			chr17	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(221): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCC CTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGG CCCTCCCTCAGTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	429	0.0023	228	c.353 others(243): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGG GACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
THADA_chr2_43225851_43601038	43297603	G G	GTCAGCCC others(221): Show GTCAGCCCCCCGCCCGGCCAGCCCCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCACCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGA	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0017 a0017	a0017c0034 a0017c0034	a0017c0034t0001 a0017c0034t0001	a0017c0034t0001g0192 a0017c0034t0001g0192	1	206	0.0049	228	c.443 others(247): Show c.4439-4391_4439-4390insTCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGG GTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTAGGGGTGGCCGGG CAGAGGCGCCCCTCACCTCCCGGACGGGGGGGCTGGCCGGGCGGGGGGCT GA	THADA	ENSG00000115970.19	transcript	ENST00000405975.7	protein_coding	31/37			chr2	TogoVar
THOP1_chr19_2780503_2820807	2817707	T T	TCAGAGCA others(221): Show TCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATA ACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC CAAGGGTGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGG TCAGAGCAGGTGACAAGGGTGACTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG02257.hp2 NA19240.hp1 HG00438.hp2 HG02257.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0004 a0001c0001t0004 a0002c0002t0004	a0001c0001t0004g0022 a0001c0001t0004g0060 a0002c0002t0004g0015 a0001c0001t0004g0022 a0001c0001t0004g0060 a0002c0002t0004g0015	3	370	0.0081	228	c.44 others(239): Show c.4431_*4432insCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGC AGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAG GTCAGAGCAGGTGACCAAGGGTGACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		1901		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817842	A A	AACTAAGG others(221): Show AACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGAC CAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGGTCAGAGCAGGTGACCAAGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0038 a0001c0003t0006g0038	1	370	0.0027	228	c.45 others(239): Show c.4566_*4567insACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAG AACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGT GACTAAGAACAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGA CAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAG CAGGTGACAAGGGTGACTAAGGTCAGAGCAGGTGACCAAGGATG	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2036		chr19	TogoVar
THOP1_chr19_2780503_2820807	2817936	T T	TCAGAGCA others(221): Show TCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACCAAGGATG ACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGCAGGTGACC AAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGGTCAGAGCA GGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGG TCAGAGCAGGTGACAAGGGTGACTAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0173 a0001c0003t0006g0173	1	370	0.0027	228	c.46 others(239): Show c.4660_*4661insCAGAGCAGGTGACAAGGGTGACTAAGAACAGAGC AGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGA ACAGAGCAGGTGACCAAGGATAACTAAGGTCAGAGCAGGTGACAAGGGTG ACTAAGGTCAGAGCAGGTGACCAAGGATGACTAAGGTCAGAGCAGGTGAC CAAGGATGACTAAGGTCAGAGCAGGTGACAAGGGTGACTAAGAA	THOP1	ENSG00000172009.15	transcript	ENST00000307741.11	protein_coding		2130		chr19	TogoVar
TM2D3_chr15_101636848_101657381	101655084	C C	CGGGGAGC others(221): Show CGGGGAGCTCTTACAGGCTCACACTGACCCCACCTGGCACTAGGGTGCAA ATGAGAGGGGGGAGCTCTTACAGGCTCACACTGACTCCACCTGGCACTAG GGCGCAAATGAGAGCGGGGAGCTCTTACAGGCTCACACTGACCCCACCTG GCACTAGGGTGCAAATGAGAGGGGGGAGCTCTTACAGGCTCACAGTGACT CCACCTGGCACTAGGGCGCAGATGAGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	228	c.-27 others(239): Show c.-2724_-2723insACTCTCATCTGCGCCCTAGTGCCAGGTGGAGTCA CTGTGAGCCTGTAAGAGCTCCCCCCTCTCATTTGCACCCTAGTGCCAGGT GGGGTCAGTGTGAGCCTGTAAGAGCTCCCCGCTCTCATTTGCGCCCTAGT GCCAGGTGGAGTCAGTGTGAGCCTGTAAGAGCTCCCCCCTCTCATTTGCA CCCTAGTGCCAGGTGGGGTCAGTGTGAGCCTGTAAGAGCTCCCC	TM2D3	ENSG00000184277.13	transcript	ENST00000333202.8	protein_coding		2704		chr15	TogoVar
TMCO3_chr13_113486021_113555229	113541973	G G	GTCGCTGA others(221): Show GTCGCTGATCACTGCCATGCTTTATTACTGCTGAGATGTGTGGATGATAC ACACACGATCGCTGATCACTGCCATGCTTTATTATCGCTGAGATGTGTGG ATGATACGCACATGATCGCTGATCACTGCCATGCTTTATTACCGCTGAGA TGTGTGGATACCACGCACACGATTGCTGATCACTGCCATGCTTTATTACC GCTGAGTTGTGTGGATGATACGCACACGA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0034 a0003c0002t0002g0034	1	368	0.0027	228	c.169 others(247): Show c.1690+2493_1690+2494insTGCTGAGATGTGTGGATGATACACAC ACGATCGCTGATCACTGCCATGCTTTATTATCGCTGAGATGTGTGGATGA TACGCACATGATCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTG TGGATACCACGCACACGATTGCTGATCACTGCCATGCTTTATTACCGCTG AGTTGTGTGGATGATACGCACACGATCGCTGATCACTGCCATGCTTTATT AC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113543163	T T	TGTCCGTG others(221): Show TGTCCGTGACCACCTCCTCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACC ACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCT CTCCCTGCCCCCCCGTCCGTGACCCCCACCTCCTCCCCCCTGCCCCTCGC CCTCCCTGTCCGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTG TGTTACCCCCACCTCCTCTCCCTGCCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0005 a0002c0004t0005	a0002c0004t0005g0321 a0002c0004t0005g0321	1	368	0.0027	228	c.169 others(247): Show c.1690+3656_1690+3657insGTCCGTGACCACCTCCTCCCCCTGCC CCTCGCCCTCCCTGTCCGTGACCACCACCTCCCCCTGCGCCCCTACCCTC CCTGTGTGTTACCCCCACCTCCTCTCCCTGCCCCCCCGTCCGTGACCCCC ACCTCCTCCCCCCTGCCCCTCGCCCTCCCTGTCCGTGACCACCACCTCCC CCTGCGCCCCTACCCTCCCTGTGTGTTACCCCCACCTCCTCTCCCTGCCC CC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMEM132D_chr12_129066726_129909025	129088588	G G	GGGTGTCC others(221): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCA TGACCGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCCT CCATGACCGGGTGTCCTCCCTGACCGGGGCGTCCTCCATGACCGGGGCGT CCTCCATGACCGGGGTGTCCTCTATGACC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0091 a0001c0001t0025g0091	1	94	0.0106	228	c.144 others(247): Show c.1444-3887_1444-3886insGGTCATAGAGGACACCCCGGTCATGG AGGACGCCCCGGTCATGGAGGACGCCCCGGTCAGGGAGGACACCCGGTCA TGGAGGACGCCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCCCGG TCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCAGGGAGGACACCC CGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACA CC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129088588	G G	GGGTGTCC others(221): Show GGGTGTCCTCCATGACCGGGGTGTCCTCCATGACCGGGTGTCCTCCATGA CCGGGGTGTCCTCCCTGACCGGGTGTCCTCCATGACCGGGGTGTCCTCCA TGACCGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGGCGTCCT CCATGACCGGGTGTCCTCCCTGACCGGGGTGTCCTCCATGACCGGGGCGT CCTCCATGACCGGGGTGTCCTCTATGACC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG02965.hp1 HG03834.hp2 others(1): Show HG00099.hp1 HG02965.hp1 HG03834.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0002 a0001c0001t0012	a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 others(1): Show a0001c0001t0002g0021 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0012g0002	4	94	0.0426	228	c.144 others(247): Show c.1444-3887_1444-3886insGGTCATAGAGGACACCCCGGTCATGG AGGACGCCCCGGTCATGGAGGACACCCCGGTCAGGGAGGACACCCGGTCA TGGAGGACGCCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCCCGG TCATGGAGGACACCCCGGTCATGGAGGACACCCGGTCAGGGAGGACACCC CGGTCATGGAGGACACCCGGTCATGGAGGACACCCCGGTCATGGAGGACA CC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM184B_chr22_38214291_38278010	38230100	G G	GGCCAGCC others(221): Show GGCCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACTCTAGACC ACAGGGAGGTCAGCCCAGGAAGCTAGAGCGGCTGGATTGCCAAGGCTACT CTAGACCACAGGGAGGCCAGCCCAGGAAGCTAGAGCGGCTGGACTGCCAA GGCTACTCTAGACCACAGGGAAGTCAGCCCAGGAAGCTAGAGCGGCTGGA TTGCCAAGGCTACTCTAGACCACAGGGAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	354	0.0028	228	c.525 others(243): Show c.525+568_525+569insTTCCCTGTGGTCTAGAGTAGCCTTGGCAAT CCAGCCGCTCTAGCTTCCTGGGCTGACTTCCCTGTGGTCTAGAGTAGCCT TGGCAGTCCAGCCGCTCTAGCTTCCTGGGCTGGCCTCCCTGTGGTCTAGA GTAGCCTTGGCAATCCAGCCGCTCTAGCTTCCTGGGCTGACCTCCCTGTG GTCTAGAGTAGCCTTGGCAATCCAGCCGCTCTAGCTTCCTGGGCTGGC	TMEM184B	ENSG00000198792.13	transcript	ENST00000361906.8	protein_coding	5/8			chr22	TogoVar
TMEM255B_chr13_113754226_113821995	113811133	C C	CCCTGGGT others(221): Show CCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGG GGACCCGTGAGAGCGGTCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTC CTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGGC CGGTGAGAGTGGTCCTGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCC TGGGTCTGTGGGGGACCCGTGAGAGTGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01255.hp2 others(27): Show HG00738.hp1 HG01167.hp2 HG01255.hp2 HG01928.hp2 HG01934.hp2 HG01975.hp2 HG01993.hp1 HG02129.hp2 HG02135.hp1 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG03239.hp1 HG03516.hp1 HG03654.hp1 HG03688.hp2 NA18747.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp2 NA18990.hp1 NA18990.hp2 NA19004.hp2 NA19011.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp1 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 others(19): Show a0001c0002t0007 a0001c0002t0008 a0001c0002t0011 a0001c0002t0018 a0001c0002t0019 a0001c0002t0039 a0001c0002t0041 a0001c0002t0043 a0001c0002t0045 a0001c0002t0046 a0001c0002t0047 a0001c0002t0049 a0001c0002t0050 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0055 a0001c0002t0056 a0001c0002t0057 a0001c0002t0058 a0001c0002t0059 a0001c0002t0063	a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 others(26): Show a0001c0002t0007g0114 a0001c0002t0007g0123 a0001c0002t0007g0171 a0001c0002t0007g0173 a0001c0002t0008g0099 a0001c0002t0008g0106 a0001c0002t0008g0108 a0001c0002t0008g0109 a0001c0002t0011g0062 a0001c0002t0011g0105 a0001c0002t0018g0032 a0001c0002t0019g0002 a0001c0002t0039g0110 a0001c0002t0041g0185 a0001c0002t0043g0118 a0001c0002t0045g0126 a0001c0002t0046g0116 a0001c0002t0047g0111 a0001c0002t0049g0117 a0001c0002t0050g0029 a0001c0002t0051g0119 a0001c0002t0052g0219 a0001c0002t0053g0002 a0001c0002t0055g0107 a0001c0002t0056g0063 a0001c0002t0057g0215 a0001c0002t0058g0113 a0001c0002t0059g0022 a0001c0002t0063g0101	30	260	0.1154	228	c.814 others(243): Show c.814-553_814-552insGACCCGTGAGAGCGGTCCTGGGTCTGTGGG GGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGT CCTGGGTCTGTGGGGGGGCCGGTGAGAGTGGTCCTGGGTCTGTGGGGTGG GGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGGGACCCGTGAGAGTGGTCC TGGGTCTGTGGGGTGGGGGCCCGTGAGAGTGGTCCTGGGTCTGTGGGG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816042	G G	GCAGCGTG others(221): Show GCAGCGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGT TTCTTTTCGGGGAGGCAAGCATGTTCTCAGCGTGTTCTGTATGGGGAGAG GTGCAGTCACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGT TCTCAGCGTGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACG GGTTCTTTTCGGGGAGGCAAGCGTGTTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0078 a0006c0015t0078	a0006c0015t0078g0023 a0006c0015t0078g0023	1	260	0.0039	228	c.41 others(239): Show c.4162_*4163insGTGCAGTCACTGGTCAGGGACACGGTTTCTTTTC GGGGAGGCAAGCATGTTCTCAGCGTGTTCTGTATGGGGAGAGGTGCAGTC ACTGGTCAGGGACACGGTTTCTTTTCGGGGAGGCAAGCGTGTTCTCAGCG TGTTCTGTATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGGGTTCTTT TCGGGGAGGCAAGCGTGTTCTCAGCGTGTTCTGTATGGGGAGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4163	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM255B_chr13_113754226_113821995	113816055	T T	TATGGGGA others(221): Show TATGGGGAGAGGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTCGGGGA GGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTCACTGG TCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCGTGTTC TGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTTTCGGG GAGGCAAGCGTGTTCGCAGCGTGTTCTGG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0030 a0001c0001t0134g0030	1	260	0.0039	228	c.41 others(239): Show c.4162_*4163insGTGCAGTCACTGGTCAGGGACACGAGTTCTTTTC GGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGGGGTGCAGTC ACTGGTCAGGGACACGGGTTCTTTTCGGGGAGGCAAGCGTGTTCGCAGCG TGTTCTGGATGGGGAGAGGTGCAGTCACTGCTCAGGGACACGGGTTCTTT TCGGGGAGGCAAGCGTGTTCGCAGCGTGTTCTGGATGGGGAGAG	TMEM255B	ENSG00000184497.13	transcript	ENST00000375353.5	protein_coding	9/9	4163	INFO_REALIGN_3_PRIME	chr13	TogoVar
TMLHE_chrX_155484011_155617952	155613322	A A	ACCCCCCA others(221): Show ACCCCCCACTCCCTAGGCAGATTCACCAGTGGACCTGTGTGCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	216	0.0046	228	c.-53 others(237): Show c.-533_-532insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGCACACAGGTCCACTGGTGAATCTGCCTAGGGAGTGGGGGG	TMLHE	ENSG00000185973.12	transcript	ENST00000334398.8	protein_coding		371		chrX	TogoVar

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