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
RERE_chr1_8347404_8822640	8501886	G G	GGGGGGGG others(169): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCAGGAGGTGAGG GGCGCCTCTGCCCGGCTGCCCCTACTGGGAAGTGAGGACCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	204	0.0049	176	c.880 others(193): Show c.880-4358_880-4357insACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGTCCTCACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCC CTCACCTCCTGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCCA CCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(169): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTGTA TACATACATACGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	176	c.-23 others(187): Show c.-2310_-2309insGTATGTATACACATACGTATGTATGTATACACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(169): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTATGTGTATACATACGTATGTATGTGTATACATACATACGTATGTGTA TACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	176	c.-23 others(187): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACGTATGTATGTATACACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759494	T T	TGTATGTA others(169): Show TGTATGTATGTATGTGTATGCATACATATGTATGTGTATACATACGTATG TATGTATGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTA TGTGTATACATACATACGTATGTGTATACATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA18967.hp2 NA18973.hp1 others(2): Show HG01109.hp1 NA18967.hp2 NA18973.hp1 NA18985.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	5	452	0.0111	176	c.-23 others(187): Show c.-2310_-2309insGTATACACATACATACGTATGTATGTATACACAT ACATACGTATGTATGTATACACATACGTATGTATGTATACACATACATAC GTATGTATACACATACATACATACGTATGTATACACATACATACATACGT ATGTATACACATACATATGTATGCATACACATACATACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2085		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759522	T T	TGTATGTG others(169): Show TGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTATG TGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTG TATACATACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	176	c.-23 others(187): Show c.-2338_-2337insGTATGTATACACATACATACATACGTATGTATAC ACATACATACGTATGTATACACATACATACATACGTATGTATACACATAC ATACATACGTATGTATACACATACATACATACGTATGTATACACATACAT ACATACGTATGCATACACATACATATGTATGCATACACATAC	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2113		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759560	T T	TACATACG others(169): Show TACATACGTATGTATGTGTATACATACATACGTATGTATGTGTATACATA CATACGTATGTATGTGTACACATACATATGTATGTGTACACATACATATG TATGTATGTGTACACATACATATGTATGTGTACACATACATACGTATGTA TGTGTACACATACATATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	176	c.-23 others(187): Show c.-2376_-2375insGTACACATACATATGTATGTGTACACATACATAC GTATGTATGTGTACACATACATATGTATGTGTACACATACATACATATGT ATGTGTACACATACATATGTATGTGTACACATACATACGTATGTATGTAT ACACATACATACGTATGTATGTATACACATACATACGTATGT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2151		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759562	C C	CATACGTA others(169): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTA TGTATGTGTATACATACATACGTATGTATGTGTATACATACATACGTATG TATGTGTATACATACGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	176	c.-23 others(187): Show c.-2378_-2377insACACATACATACGTATGTATACACATACATACGT ATGTATGTATACACATACATACGTATGTATGTATACACATACATACGTAT GTATACACATACATACGTATGTATACACATACATACATACGTATGTATAC ACATACATACATACGTATGTATACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2153		chr3	TogoVar
RFX2_chr19_5988164_6115500	6104413	C C	CAAAAAAT others(169): Show CAAAAAATTAGCCGGGCATAGTGGCGGGTGCCTGTAGTCCCAGCTACTTG GAAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0038 a0001c0004t0001g0038	1	308	0.0033	176	c.-9+ others(191): Show c.-9+5979_-9+5980insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTAACGCCATTCTCCTGCCTCAGCCTTCCAA GTAGCTGGGACTACAGGCACCCGCCACTATGCCCGGCTAATTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RFX2_chr19_5988164_6115500	6104413	C C	CAAAAAAT others(169): Show CAAAAAATTAGCCGGGCATAGTGGCGGGTGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTTAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA19000.hp1 NA19066.hp2 HG02027.hp1 NA19000.hp1 NA19066.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0045 a0003c0005t0001g0048 a0003c0005t0001g0050 a0003c0005t0001g0045 a0003c0005t0001g0048 a0003c0005t0001g0050	3	308	0.0097	176	c.-9+ others(191): Show c.-9+5979_-9+5980insTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTAACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCACCCGCCACTATGCCCGGCTAATTTTTT	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
RGS12_chr4_3288021_3444913	3359033	C C	CTCCCCTC others(169): Show CTCCCCTCCCCCCTCCTCCCCTCCCCCCTTCCTCCTCCTCCCTCCTCCCT CTCCTCCTCCCCTCCTCCCTCCTCCCGTCCCCCTCCTCCCTCTCCTCACC TCCCCTCCTCCCTCCTCCCCTCCCCCTCCTCCCTCTCCTCACCTCCCCTC CTCCCTCCTCCCCTCCCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0158 a0005c0012t0001g0158	1	312	0.0032	176	c.199 others(197): Show c.1998+15980_1998+15981insTCCCCTCCCCCCTCCTCCCCTCCC CCCTTCCTCCTCCTCCCTCCTCCCTCTCCTCCTCCCCTCCTCCCTCCTCC CGTCCCCCTCCTCCCTCTCCTCACCTCCCCTCCTCCCTCCTCCCCTCCCC CTCCTCCCTCTCCTCACCTCCCCTCCTCCCTCCTCCCCTCCCCCTCCTCC CT	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	3/17			chr4	TogoVar
RIN2_chr20_19753258_20007456	19924535	T T	TTCATACC others(169): Show TTCATACCCCACCTCCATACCCCACCTCCATACCCTCACCTCCATACCCC ACCTTCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCAT ACCCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCCCCACC TTCATACCCTCACCTTCATAACCTCAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02723.hp1 HG02809.hp2 others(2): Show HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 others(2): Show a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0039 a0001c0002t0021	a0001c0001t0005g0134 a0001c0001t0007g0254 a0001c0001t0008g0131 others(2): Show a0001c0001t0005g0134 a0001c0001t0007g0254 a0001c0001t0008g0131 a0001c0001t0039g0253 a0001c0002t0021g0012	5	276	0.0181	176	c.58- others(193): Show c.58-10564_58-10563insTCATACCCCACCTCCATACCCCACCTCC ATACCCTCACCTCCATACCCCACCTTCCTACCCCCACCTTCATACCCTCA CCTTCATACCCCCACCTTCATACCCCACCTTCATACCCCCACCTTCATAC CCTCACCTTCATACCCCCACCTTCATACCCTCACCTTCATAACCTCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(169): Show TATATATATAATATATATAATATATATATATAAAATATATATATATAATA TATATAATATATATATATTATATATATATAAAATATATATATAATATATA TAATATATATATTATATATAATATATATATAATATATATATATATAATAT ATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02886.hp2 HG03453.hp1 others(2): Show HG02451.hp2 HG02886.hp2 HG03453.hp1 NA19043.hp2 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0016 a0003c0003t0005g0246 a0003c0003t0005g0016 a0003c0003t0005g0246	5	410	0.0122	176	c.67- others(189): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATT ATATATATATATATTATATATATATTATATATAATATATATATTATATAT ATTATATATATATTTTATATATATATAATATATATATATTATATATATTA TATATATATATTTTATATATATATATTATATATATTATATATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIOK2_chr5_97155867_97188247	97180142	G G	GTATATAT others(169): Show GTATATATATATATATGTATATATATATATGTATATATATATATGTATAT ATATATATGTATATATATATATGTATATATATATGTATATATATATATGT ATATATATATATGTATATATATATATGTATATATATATATGTATATATAT ATATATGTATATATATATATACGTATA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0003 a0005c0006t0003	a0005c0006t0003g0121 a0005c0006t0003g0121	1	410	0.0024	176	c.67- others(189): Show c.67-950_67-949insTATACGTATATATATATATACATATATATATA TATACATATATATATATACATATATATATATACATATATATATATACATA TATATATATACATATATATATACATATATATATATACATATATATATATA CATATATATATATACATATATATATATACATATATATATATATA	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(169): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0332 a0001c0029t0001g0332	1	448	0.0022	176	c.48 others(187): Show c.4815_*4816insAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(169): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0022 a0001c0007t0001g0022	1	448	0.0022	176	c.47 others(187): Show c.4781_*4782insTAATAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(169): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTATTATTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0086 a0001c0002t0006g0086	1	448	0.0022	176	c.47 others(187): Show c.4781_*4782insTAATAATAATAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736056	C C	CTTCTTCT others(169): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0091 a0001c0002t0006g0091	1	448	0.0022	176	c.47 others(187): Show c.4781_*4782insTAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAAGAAGAAGAAGAAGAAGAAGAAGAA	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3316		chr21	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(169): Show ATATAATATAATATAATATATAATATATAATATAATATATAATATATAAT ATATAATATAATATATAATATATAATATATTATATAATATAATGTATAAT ATATTATATAATATAATGTATAATATATTATATAATATAATATATAATAT ATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18956.hp2 NA18980.hp1 NA18956.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	432	0.0046	176	c.-31 others(187): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ATATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATATTATATTATATATTATAT ATTATATATTATATTATATATTATATATTATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RNF148_chr7_122696668_122707922	122705888	A A	ATATAATA others(169): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATATAATATATTATATAATATAATGTATAAT ATATTATATAATATAATGTATAATATATTATATAATATAATGTATAATAT ATTATATAATATAATATATAATATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	432	0.0023	176	c.-31 others(187): Show c.-3139_-3138insAATATATTATATATTATATTATATAATATATTAT ACATTATATTATATAATATATTATACATTATATTATATAATATATTATAC ATTATATTATATAATATATTATATATTATATTATATATTATATATTATAT ATTATATTATATATTATATATTATATTATATATTATATTATA	RNF148	ENSG00000235631.2	transcript	ENST00000434824.2	protein_coding		2967		chr7	TogoVar
RTP5_chr2_241864729_241878823	241878060	C C	CCCCCCAC others(169): Show CCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCC ACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCC CATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCGCCCCCCCCACCCCAT CCCTCTCCTCGCTCCCCTCCCTCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 NA18943.hp2 NA19055.hp2 others(1): Show HG02027.hp2 NA18943.hp2 NA19055.hp2 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0036 a0002c0002t0001 a0002c0002t0036	a0002c0002t0001g0002 a0002c0002t0036g0002 a0002c0002t0001g0002 a0002c0002t0036g0002	4	365	0.0110	176	c.47 others(187): Show c.4786_*4787insCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCC TCTCCCGGCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG GCCGTCCCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTGGCCG CCCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCT	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4238		chr2	TogoVar
RTP5_chr2_241864729_241878823	241878062	C C	CCCCACCC others(169): Show CCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCCGGCCCCCCCAC CCCATCCCTCTCCCTCGCTCCCCTCCCTCTCCTGGCCGTCCCCCACCCCC ATCCTCTCCTCGCTCCCCTCCCTCTCCTGCCCCGCCCCCCCCACCCCATC CCTCTCCTCGCTCCCCTCCCTCTCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	365	0.0027	176	c.47 others(187): Show c.4788_*4789insCCCACCCCCATCCCTCTCCTCGCTCCCCTCCCTC TCCCGGCCCCCCCACCCCATCCCTCTCCCTCGCTCCCCTCCCTCTCCTGG CCGTCCCCCACCCCCATCCTCTCCTCGCTCCCCTCCCTCTCCTGCCCCGC CCCCCCCACCCCATCCCTCTCCTCGCTCCCCTCCCTCTCCTG	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4240		chr2	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(169): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTG CGGGGCTTGTGTGTGTGTGTGGGGGGGGGGTTATGTGTGTGTGGGGGGTT ATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTA TGTGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01978.hp2 HG02148.hp1 others(3): Show HG01928.hp1 HG01978.hp2 HG02148.hp1 HG02293.hp2 HG02717.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0063 a0001c0001t0001 a0001c0001t0007 a0001c0001t0063	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 others(3): Show a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0007g0036 a0001c0001t0063g0120	6	232	0.0259	176	c.29- others(193): Show c.29-32620_29-32619insGGGGGGGGGTTATGTGTGTGTGGGGGGT TATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTT ATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGT GTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(169): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTG CGGGGCTTGTGTGTGTGTGTGTGTGGGGGGTTATGTGTGTGTGGGGGGTT ATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTA TGTGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA19030.hp1 HG01346.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0027 a0001c0001t0001 a0001c0001t0027	a0001c0001t0001g0030 a0001c0001t0027g0086 a0001c0001t0001g0030 a0001c0001t0027g0086	2	232	0.0086	176	c.29- others(193): Show c.29-32618_29-32617insTGGGGGGTTATGTGTGTGTGGGGGGTTA TGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTAT GTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGT GTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGTG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369012	G G	GGGGGGGG others(169): Show GGGGGGGGGTTATGTGTGTGTGGGGGGTTATGTGTGTATGGGGGGTTATG TGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGG GTTATGTGTGTGTGAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGT GAGTGCGGGGCTTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	232	0.0043	176	c.29- others(193): Show c.29-32620_29-32619insGGGGGGGGTTATGTGTGTGTGGGGGGTT ATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTA TGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCAGGGGTTGTG TGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9			chr9	TogoVar
RXRA_chr9_134321455_134445585	134369013	T T	TGTGGGGG others(169): Show TGTGGGGGGTTATGTGTGTGTGGGGGGTTATGTGTATATGGGGGGTTATG TGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGG GTTATGTGTGTGTGAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGT GAGTGCGGGGCTTGTGTGTGTGTGTGG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0138 a0001c0001t0022g0138	1	232	0.0043	176	c.29- others(193): Show c.29-32618_29-32617insTGGGGGGTTATGTGTGTGTGGGGGGTTA TGTGTATATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTAT GTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCAGGGGTTGTGT GTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGTGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTATATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCA GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02451.hp1 others(5): Show HG01243.hp1 HG02109.hp2 HG02451.hp1 HG02818.hp1 HG03041.hp1 HG03453.hp1 HG03471.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(4): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0044 a0001c0001t0051	a0001c0001t0003g0166 a0001c0001t0004g0128 a0001c0001t0008g0038 others(5): Show a0001c0001t0003g0166 a0001c0001t0004g0128 a0001c0001t0008g0038 a0001c0001t0009g0130 a0001c0001t0009g0136 a0001c0001t0011g0140 a0001c0001t0044g0135 a0001c0001t0051g0085	8	232	0.0345	176	c.29- others(193): Show c.29-32585_29-32584insATATGGGGGGTTATGTGTGGGGGGAGTT GTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGT GAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTT GTGTGTGTGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTATATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCA GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0137 a0001c0001t0009g0137	1	232	0.0043	176	c.29- others(193): Show c.29-32585_29-32584insATATGGGGGGTTATGTGTGGGGGGAGTT GTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGT GAGTGCAGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTT GTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	232	0.0043	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGAGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG01099.hp1 HG00099.hp1 HG00140.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0038 a0001c0001t0001 a0001c0001t0006 a0001c0001t0038	a0001c0001t0001g0050 a0001c0001t0006g0021 a0001c0001t0038g0074 a0001c0001t0001g0050 a0001c0001t0006g0021 a0001c0001t0038g0074	3	232	0.0129	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGAGGGGGGTTATGTGTGTGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00408.hp1 others(86): Show HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01169.hp1 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01433.hp1 HG01433.hp2 HG01884.hp1 HG01928.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02129.hp1 HG02165.hp1 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp1 HG02683.hp2 HG02809.hp1 HG02965.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18947.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18964.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18995.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19068.hp2 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19090.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0018 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0037 a0001c0001t0043 a0001c0001t0048 a0001c0001t0049 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0002t0040	a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(85): Show a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0002g0031 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0064 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0001t0002g0192 a0001c0001t0002g0196 a0001c0001t0002g0198 a0001c0001t0003g0025 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0062 a0001c0001t0003g0070 a0001c0001t0003g0073 a0001c0001t0003g0174 a0001c0001t0004g0181 a0001c0001t0005g0004 a0001c0001t0005g0020 a0001c0001t0005g0144 a0001c0001t0005g0176 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0006g0177 a0001c0001t0007g0090 a0001c0001t0012g0039 a0001c0001t0014g0168 a0001c0001t0016g0059 a0001c0001t0016g0060 a0001c0001t0018g0061 a0001c0001t0028g0109 a0001c0001t0029g0026 a0001c0001t0030g0034 a0001c0001t0031g0066 a0001c0001t0032g0017 a0001c0001t0033g0171 a0001c0001t0034g0011 a0001c0001t0037g0063 a0001c0001t0043g0004 a0001c0001t0048g0024 a0001c0001t0049g0042 a0001c0001t0053g0012 a0001c0001t0054g0006 a0001c0001t0055g0018 a0001c0001t0056g0167 a0001c0001t0058g0054 a0001c0002t0040g0041	89	232	0.3836	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGTGGGGGGTTATGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0209 a0001c0001t0004g0209	1	232	0.0043	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGTGGGGGGTTATGTGGGGGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGTGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02145.hp1 HG02258.hp2 others(2): Show HG00735.hp1 HG02145.hp1 HG02258.hp2 HG02970.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0003g0080 a0001c0001t0003g0142 a0001c0001t0004g0133 others(2): Show a0001c0001t0003g0080 a0001c0001t0003g0142 a0001c0001t0004g0133 a0001c0001t0007g0119 a0001c0001t0007g0203	5	232	0.0216	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGCGGGGCTTGTGTGTGTGTGTGTGTGGGGGGTTATGTGTGTGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369033	T T	TGGGGGGT others(169): Show TGGGGGGTTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTG TGGGGGTTATGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCG GGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAGTGTGGGGCTTGTGTGTG TGTGTGTGGGGGGGGTTATGTGTGTGG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0108 a0001c0001t0007g0108	1	232	0.0043	176	c.29- others(193): Show c.29-32545_29-32544insGTTATGTGTGTGTGTGAGTGCCGGGGTT ATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTGTGAG TGTGGGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGG TTATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134444407	C C	CTTCCTTC others(169): Show CTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTC CCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTCC CTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTTCCCCCTCCCTCCTCC TTCCTCCCTCCTTCCCTCCTTCCTCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0131 a0001c0001t0008g0131	1	232	0.0043	176	c.77 others(187): Show c.7793_*7794insTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTT CCCCCTCCCTCCTCCTTCCTCCCTCCTTCCCTCCTTCCTCCT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3823		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668647	C C	CCCTACCT others(169): Show CCCTACCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCT CACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCTC ACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCTCCCTCCCTCTCCCCTC ACCCTCCCTCTCCCCTCACCTCCCTCT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0003 a0003c0003t0004g0003	1	262	0.0038	176	c.249 others(195): Show c.2496-1778_2496-1777insAGAGGGAGGTGAGGGGAGAGGGAGGG TGAGGGGAGAGGGAGGGAGAGGGGAGATGGAGGGTGAGGGAGAGGGAGGG TGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGT GAGGGAGAGGGAGGGTGAGGGAGAGGGAGGGTGAGGGAGAGGGAGGTAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(169): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATACACATATATATGTGTATATATATACGTATATATACACATA TATATGTGTATATATACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0005	1	330	0.0030	176	c.-32 others(187): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATACACATATATATGTGTATATATATAC GTATATATACACATATATATGTGTATATATACGTATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SBNO2_chr19_1102638_1179268	1146751	T T	TGGGAGGC others(169): Show TGGGAGGCTGTGAGGGTGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAG GCTGTGAGGGTGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAGGCTGGG AGGGTGGGGGTGGGGTCCGCCTGATGCCGAAGGGGGAGGCTGGGAGGGTG GGGGTGGGGTCCGCCTGATGCCGAAGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	203	0.0049	176	c.279 others(191): Show c.279+557_279+558insCCTTCGGCATCAGGCGGACCCCACCCCCAC CCTCCCAGCCTCCCCCTTCGGCATCAGGCGGACCCCACCCCCACCCTCCC AGCCTCCCCCTTCGGCATCAGGCGGACCCCACCCCCACCCTCACAGCCTC CCCCTTCGGCATCAGGCGGACCCCACCCCCACCCTCACAGCCTCCC	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	4/31			chr19	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(169): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	390	0.0026	176	c.49 others(187): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4780		chr11	TogoVar
SCNN1B_chr16_23297302_23386294	23377574	C C	CCCTTCCT others(169): Show CCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCT TCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCAT TCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTT TCTTCCTTCCTTCATTCCTTCTCCCTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03579.hp2 HG03471.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0273 a0001c0001t0001g0098 a0001c0001t0001g0273	2	306	0.0065	176	c.140 others(193): Show c.1404+218_1404+219insCCCTCCCTTCTCCCTTCCTTCCTCCCTC CCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTCCTTCATTCCTTCTCC CTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCTTCCTTCTTTCTTCCTTC CTTCATTCCTTCTCCCTTCCTTCCTCCCTCCCTTCTCCCTTCCTTCCT	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23379026	T T	TCCACCCA others(169): Show TCCACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCA CCCACGCAGCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCA GCCATCCTCCACCCATTCATCCCTCCATCATCCACCCACGCGCCCAGCCA TCCTCCACTCATTCATCCTCCATTCTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 NA18522.hp1 NA18906.hp1 HG02451.hp1 NA18522.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0279 a0001c0001t0001g0295 a0001c0001t0001g0296	3	306	0.0098	176	c.146 others(193): Show c.1466+312_1466+313insCGCAGCCAGCCATCCTCCACTCATTCAT CCTCCATTCTCCCACCCAGCCATCCTCCACCCATTCATCCCTCCATCATC CACCCACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACC CACGCGCCCAGCCATCCTCCACTCATTCATCCTCCATTCTCCCACCCA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1289418	T T	TGTCTCTG others(169): Show TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTG TCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCC GTCCCGTGTCTCTGCCCCGTCCCCCGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0138 a0003c0004t0003g0138	1	290	0.0035	176	c.166 others(193): Show c.1663-845_1663-844insCCCGTCCCCCGTGTCTCTGCCCCGTCCC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGAGTCTCTGC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCUBE1_chr22_43192280_43348372	43280396	C C	CTGTCCCT others(169): Show CTGTCCCTTCCCCTCACCCATCCTCCCGTCCCTTCCCCTCACCCATCCCC CTGTCCCTTCCCCTCACCCATCCTGCTGTCCCTTCCCCTCACCCATCCTC CTGTCCCTTCCCCTCACCCATCCTTCTGTCCCTTCCCCTCACCCATCCTG CTGTCCCTTCCCCTCACCCATCCTCCT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0060 a0002c0002t0060	a0002c0002t0060g0072 a0002c0002t0060g0072	1	280	0.0036	176	c.484 others(195): Show c.484+10649_484+10650insAGGAGGATGGGTGAGGGGAAGGGACA GCAGGATGGGTGAGGGGAAGGGACAGAAGGATGGGTGAGGGGAAGGGACA GGAGGATGGGTGAGGGGAAGGGACAGCAGGATGGGTGAGGGGAAGGGACA GGGGGATGGGTGAGGGGAAGGGACGGGAGGATGGGTGAGGGGAAGGGACA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SDK1_chr7_3296252_4274000	4204998	G G	GTGTGGTG others(169): Show GTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGG TGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGC GCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGTAAGGCGCGGAG GAGGTGCGGCCACACCCCTAATGGCGA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00639.hp1 others(29): Show HG00408.hp2 HG00558.hp2 HG00639.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01978.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03688.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0017 a0019 a0022 a0026 a0027 a0028 a0031	a0001c0004 a0001c0010 a0001c0025 others(29): Show a0001c0004 a0001c0010 a0001c0025 a0001c0026 a0001c0031 a0001c0049 a0001c0059 a0001c0061 a0001c0064 a0001c0072 a0001c0088 a0001c0093 a0001c0095 a0002c0042 a0002c0053 a0002c0066 a0003c0001 a0003c0033 a0003c0047 a0004c0057 a0007c0016 a0007c0077 a0009c0079 a0010c0019 a0010c0020 a0017c0024 a0019c0051 a0022c0050 a0026c0069 a0027c0068 a0028c0052 a0031c0074	a0001c0004t0001 a0001c0010t0002 a0001c0025t0024 others(29): Show a0001c0004t0001 a0001c0010t0002 a0001c0025t0024 a0001c0026t0002 a0001c0031t0001 a0001c0049t0036 a0001c0059t0027 a0001c0061t0031 a0001c0064t0006 a0001c0072t0065 a0001c0088t0009 a0001c0093t0006 a0001c0095t0029 a0002c0042t0002 a0002c0053t0067 a0002c0066t0023 a0003c0001t0063 a0003c0033t0002 a0003c0047t0038 a0004c0057t0013 a0007c0016t0001 a0007c0077t0003 a0009c0079t0054 a0010c0019t0074 a0010c0020t0070 a0017c0024t0061 a0019c0051t0062 a0022c0050t0019 a0026c0069t0069 a0027c0068t0014 a0028c0052t0032 a0031c0074t0042	a0001c0004t0001g0039 a0001c0010t0002g0085 a0001c0025t0024g0088 others(29): Show a0001c0004t0001g0039 a0001c0010t0002g0085 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0031t0001g0018 a0001c0049t0036g0109 a0001c0059t0027g0090 a0001c0061t0031g0100 a0001c0064t0006g0111 a0001c0072t0065g0027 a0001c0088t0009g0048 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0042t0002g0105 a0002c0053t0067g0034 a0002c0066t0023g0089 a0003c0001t0063g0032 a0003c0033t0002g0103 a0003c0047t0038g0082 a0004c0057t0013g0045 a0007c0016t0001g0114 a0007c0077t0003g0099 a0009c0079t0054g0073 a0010c0019t0074g0009 a0010c0020t0070g0008 a0017c0024t0061g0013 a0019c0051t0062g0019 a0022c0050t0019g0092 a0026c0069t0069g0064 a0027c0068t0014g0014 a0028c0052t0032g0107 a0031c0074t0042g0081	32	116	0.2759	176	c.509 others(193): Show c.5099-875_5099-874insGAGGCGCGGAGGAGGTGCGGCCACACCC CTAATGGCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATG GCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATG TGGTAAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4204998	G G	GTGTGGTG others(169): Show GTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGG TGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGGTGTGGTGAGGC GCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGTGAGGCGCGGAG GAGGTGCGGCCACACCCCTAATGGCGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG03540.hp1 HG00558.hp1 HG03540.hp1	a0005 a0013 a0005 a0013	a0005c0003 a0013c0084 a0005c0003 a0013c0084	a0005c0003t0003 a0013c0084t0045 a0005c0003t0003 a0013c0084t0045	a0005c0003t0003g0071 a0013c0084t0045g0011 a0005c0003t0003g0071 a0013c0084t0045g0011	2	116	0.0172	176	c.509 others(193): Show c.5099-875_5099-874insGAGGCGCGGAGGAGGTGCGGCCACACCC CTAATGGCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATG GCGGTGTGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATG TGGTGAGGCGCGGAGGAGGTGCGGCCACACCCCTAATGGCGATGTGGT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	35/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934476	C C	CATATATA others(169): Show CATATATATATATATTCCATATATATATTCCATATATATATATATTCCAT ATATATATTCCATATATATATATATTCCATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATTCCATATATATATAT ATTCCATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0288 a0001c0001t0001g0288	1	324	0.0031	176	c.115 others(193): Show c.115-2706_115-2705insATATATATATATATATATATATGGAATA TATATATATATGGAATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATGGAATATATATATATATGGAATATATATA TGGAATATATATATATATGGAATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEMA3C_chr7_80737538_80924051	80863884	T T	TACATATG others(169): Show TACATATGTATCACATACATATGTATCACATACATATGTATCACATACAT ATGTATCACATACATATGTATCACATACATATGTATCACATACATATGTA TCACATACATATGTATCACATACATATGTATCACATACATATGTATCACA TACATATGTATCACATACATATCACAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	244	0.0041	176	c.104 others(195): Show c.104-35140_104-35139insGTGTGATATGTATGTGATACATATGT ATGTGATACATATGTATGTGATACATATGTATGTGATACATATGTATGTG ATACATATGTATGTGATACATATGTATGTGATACATATGTATGTGATACA TATGTATGTGATACATATGTATGTGATACATATGTATGTGATACATATGT	SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17			chr7	TogoVar
SGIP1_chr1_66529153_66756139	66630904	A A	AAAGAAAG others(169): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAGGGAGGGAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	302	0.0033	176	c.75- others(191): Show c.75-2165_75-2164insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAGGGAGGGAGGGAGGGAGGGAGGGA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SH2D4B_chr10_80532902_80651560	80534810	A A	ACCCGGCC others(169): Show ACCCGGCCAGCCGCCCCATCCGGGAGGGAGGCGGGGAGGTCAGCCCCCCG CCCAGCCAGCCGCCCTGTCCGGGAGGGAGGCGGGGGGGTCAGCCCCCTGC CCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCTGGCCGCC CCTACTGGGACGTGAGGAGCCCCTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0005 a0008c0013t0005	a0008c0013t0005g0146 a0008c0013t0005g0146	1	322	0.0031	176	c.-35 others(187): Show c.-3522_-3521insCCCGGCCAGCCGCCCCATCCGGGAGGGAGGCGGG GAGGTCAGCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGGAGGCGGGG GGGTCAGCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCTGGCCGCCCCTACTGGGACGTGAGGAGCCCCTCTG	SH2D4B	ENSG00000178217.15	transcript	ENST00000646907.2	protein_coding		3091		chr10	TogoVar
SHCBP1L_chr1_182894865_182958166	182924788	G G	GAGAAAGA others(169): Show GAGAAAGAAAGAGAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAGGGAAGA GAGGGGTGGGGGAAGGAGGGAGGAAGGGAGGGAGGAAGGAAGGAAGGAAA GAAGGAAGGAAGGGAAAGACAGAGAGAGAGAAAGAAAGGAAAGGAAGGAA GGAAGGAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0066 a0001c0003t0001g0066	1	302	0.0033	176	c.118 others(195): Show c.1182+4858_1182+4859insTTCTTTCTTTCTTTCTTTCTTCCTTC CTTCCTTCCTTTCCTTTCTTTCTCTCTCTCTGTCTTTCCCTTCCTTCCTT CTTTCCTTCCTTCCTTCCTCCCTCCCTTCCTCCCTCCTTCCCCCACCCCT CTCTTCCCTCCTTCCTTCCTTCCTTCCTTCCTTTCTCTCTCTTTCTTTCT	SHCBP1L	ENSG00000157060.16	transcript	ENST00000367547.8	protein_coding	6/9			chr1	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(169): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18944.hp2 NA18952.hp2 others(1): Show HG01167.hp2 NA18944.hp2 NA18952.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0097 others(1): Show a0001c0001t0001g0085 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0004g0006	4	214	0.0187	176	c.691 others(195): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar

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