Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

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
SLX9_chr21_44935029_44981973	44981589	G G	GGGGCCCT others(277): Show GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGAC AGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG GGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCACGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	334	0.0030	284	c.47 others(295): Show c.4786_*4787insGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GGGGGGACAGCGGGGCCCGGACGGGGCCCTGCACACAGAGCCTGCGTGTG GTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCT GCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCACGGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGAC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4617		chr21	TogoVar
SLX9_chr21_44935029_44981973	44981702	G G	GGGGCCCT others(277): Show GGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGG CCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGAC AGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCAG GGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTGG TGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTG CGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp1 HG02257.hp2 HG01167.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	2	334	0.0060	284	c.48 others(295): Show c.4899_*4900insGGGCCCTGCACACAGAGCCTGCGTGTGGTGTTCA GGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCTGCGTGTG GTGTTCAGAGGGGACAGCGGGGCCTGGACGGGGCCCTGCACACAGAGCCT GCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCCTGCACAC AGAGCCTGCGTGTGGTGTTCAGGGGGGACAGCGGGGCCTGGACGGGGCCC TGCACACAGAGCCTGCGTGTGGTGTTCAGAGGGGACAGCGGGGCCTGGAC	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		4730		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850396	T T	TTATATAT others(277): Show TTATATATATATTATATATATTATGTATAATATATATTATATATTATATA TATATTATATATATTATGTATAATATATATTATATATATTATATATATTA TGTATAATATATATTATATATATTATATATTATGTATAATATATATTTTA TATATTATATATATTATGTATAATATATATTATATATTATATATATTATG TATAATATATATTATATATTATATATATTATGTATAATATATATTATATA TTATATATATTATGTATAATATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0130 a0001c0001t0130	a0001c0001t0130g0244 a0001c0001t0130g0244	1	310	0.0032	284	c.784 others(299): Show c.784+877_784+878insTAATATATAATATATATTATACATAATATA TATAATATATAATATATATTATACATAATATATATAATATATAATATATA TTATACATAATATATATAATATATAATATATATTATACATAATATATATA ATATATAAAATATATATTATACATAATATATAATATATATAATATATATT ATACATAATATATATAATATATATAATATATATTATACATAATATATATA ATATATATATAATATATAATATATATTATACATAATATATATAATATATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMYD3_chr1_245744347_246512279	246071954	T T	TTAGTTCT others(277): Show TTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCTG CATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACT GTCGCTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGT GCTCACTGTCGCTGCATCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTT CCACTGTGCTCACTGTCGCTGCATCCTGTTAGTTCTGGGGAGGGATTCGT GTGCTTTCCACTGTGCTCACTGTCGCTGCATCGTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	150	0.0067	284	c.532 others(305): Show c.532-142018_532-142017insCACGATGCAGCGACAGTGAGCACA GTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGATGCAGCGACAGT GAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGATGCAG CGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAG GATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAA CTAACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTC CCCAGAACTA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072200	A A	ATGTGCTT others(277): Show ATGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGA GGGATTCGTGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGTTAGTT CTGGGGAGGGATTCGTGTGCTTTCCGCTGTGCTCACTGTGGATGCATCCT GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTCGCT GCATCGTGTAGTTCTGGGGAGGGATTCGTGTGCTTTTCACTGTGCTCACT GTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG02970.hp2 others(2): Show HG02647.hp1 HG02922.hp2 HG02970.hp2 HG03579.hp2 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(1): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002	a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0107 others(2): Show a0002c0003t0001g0096 a0002c0003t0002g0095 a0002c0004t0001g0107 a0002c0004t0001g0129 a0002c0004t0002g0139	5	150	0.0333	284	c.532 others(305): Show c.532-142264_532-142263insCGAATCCCTCCCCAGAACTAACAG GAAGCATCCACAGTGAGCACAGTGAAAAGCACACGAATCCCTCCCCAGAA CTACACGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCC CCAGAACTAACAGGATGCATCCACAGTGAGCACAGCGGAAAGCACACGAA TCCCTCCCCAGAACTAACAGGATGCAAAGACAGTGAGCACAGTGGAAAGC ACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAGTGAGCACAGT GGAAAGCACA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403290	G G	GGGGTCCC others(277): Show GGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGGAGAAAGGGACAG GGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGT TCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCC AGGGAGCAAGGGGTGGGGTTTGCCGGGGGAAGAAAGGGACAGGGTTCCTG GGAGCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACAGGGTCCCAGGGA GCAAGGGGTGGGGTTTGCCGGGGGAGAAAGGGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0060 a0001c0004t0001g0060	1	380	0.0026	284	c.-31 others(295): Show c.-3167_-3166insTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTG CTCCCTGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTC CCAGGAACCCTGTCCCTTTCTTCCCCCGGCAAACCCCACCCCTTGCTCCC TGGGACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGG AACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGAC CCTGTCCCTTTCTCCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3121		chr9	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(277): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0184 a0003c0007t0001g0184	1	190	0.0053	284	c.411 others(301): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATACAAA AAAACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1143707	T T	TAAAATAC others(277): Show TAAAATACAAAAAAACACACTTTGGGAGGCCGAGGCGGGCGGATGACGAG GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03579.hp1 HG02970.hp1 HG03579.hp1	a0004 a0018 a0004 a0018	a0004c0004 a0018c0035 a0004c0004 a0018c0035	a0004c0004t0001 a0018c0035t0001 a0004c0004t0001 a0018c0035t0001	a0004c0004t0001g0116 a0018c0035t0001g0071 a0004c0004t0001g0116 a0018c0035t0001g0071	2	190	0.0105	284	c.411 others(301): Show c.411+5914_411+5915insCACTTTGGGAGGCCGAGGCGGGCGGATG ACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATACAAA AAAACA	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1281240	T T	TGTGTGGT others(277): Show TGTGTGGTGTGGTGTGTGTATGTGGTATGGTGTGTGTGCTTGTATATTTG GTGTTTATGCTGTATGTGGTGTGTGGAGTGTGTGTATGTGGTGTGTGGTG TGGTGTGTGTGTTTGTGTGGTGTGTGTGTGTATGTGGCGTGTGTGTGCTT GTGTATTTGGTGTTTATGGTGTATGTGGTGTGTGGTGTGTGTGTTTGTGT GGTGTGGTGTGTGTGTGGTGGTATGTGTGTGCTTGTGTATTTGGTGTTTA TGGTGTATATGGTGTGTGGTGTGTGTGTTTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(57): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00673.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp1 HG01175.hp2 HG01256.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01975.hp1 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02280.hp2 HG02293.hp1 HG02602.hp1 HG02615.hp2 HG02735.hp2 HG02738.hp2 HG02965.hp1 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03486.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 NA18942.hp1 NA18943.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18969.hp2 NA18983.hp1 NA18986.hp2 NA18990.hp1 NA19030.hp1 NA19084.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0010 a0014 a0016 a0020	a0001c0001 a0001c0002 a0002c0003 others(8): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0002c0022 a0002c0033 a0003c0007 a0010c0013 a0014c0032 a0016c0023 a0020c0021	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001 a0002c0005t0001 a0002c0022t0001 a0002c0033t0001 a0003c0007t0001 a0010c0013t0001 a0014c0032t0001 a0016c0023t0001 a0020c0021t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 others(57): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0063 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0178 a0001c0002t0001g0029 a0001c0002t0001g0031 a0001c0002t0001g0069 a0001c0002t0001g0115 a0001c0002t0001g0126 a0001c0002t0001g0133 a0001c0002t0001g0145 a0001c0002t0001g0170 a0001c0002t0002g0002 a0002c0003t0001g0021 a0002c0003t0001g0026 a0002c0003t0001g0030 a0002c0003t0001g0051 a0002c0003t0001g0052 a0002c0003t0001g0061 a0002c0003t0001g0064 a0002c0003t0001g0091 a0002c0003t0001g0092 a0002c0003t0001g0093 a0002c0003t0001g0098 a0002c0003t0001g0099 a0002c0003t0001g0113 a0002c0003t0001g0129 a0002c0003t0001g0138 a0002c0003t0001g0139 a0002c0003t0001g0148 a0002c0003t0001g0154 a0002c0003t0001g0158 a0002c0003t0001g0161 a0002c0003t0001g0165 a0002c0003t0001g0171 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0183 a0002c0003t0001g0185 a0002c0005t0001g0014 a0002c0005t0001g0020 a0002c0005t0001g0032 a0002c0005t0001g0101 a0002c0005t0001g0107 a0002c0005t0001g0114 a0002c0005t0001g0131 a0002c0005t0001g0156 a0002c0005t0001g0167 a0002c0005t0001g0168 a0002c0022t0001g0155 a0002c0033t0001g0119 a0003c0007t0001g0080 a0010c0013t0001g0132 a0010c0013t0001g0164 a0014c0032t0001g0059 a0016c0023t0001g0048 a0020c0021t0001g0111	60	190	0.3158	284	c.128 others(305): Show c.1284+13679_1284+13680insGTGTGTGTATGTGGTATGGTGTGT GTGCTTGTATATTTGGTGTTTATGCTGTATGTGGTGTGTGGAGTGTGTGT ATGTGGTGTGTGGTGTGGTGTGTGTGTTTGTGTGGTGTGTGTGTGTATGT GGCGTGTGTGTGCTTGTGTATTTGGTGTTTATGGTGTATGTGGTGTGTGG TGTGTGTGTTTGTGTGGTGTGGTGTGTGTGTGGTGGTATGTGTGTGCTTG TGTATTTGGTGTTTATGGTGTATATGGTGTGTGGTGTGTGTGTTTGTGTG GTGTGGTGTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189682	T T	TATTATAT others(277): Show TATTATATATTTATATATTATATATATTTATATATATAATATGTAATATA TTATATATATTTATATATATATGTAATATATTATATATATTTATATATAA TATGTAATATATTATATATTTATATATATAATATGTAATATATTATATAT TTATATATATAATATGTAATATATTATATATATTTATATATATAATATGT AATATATTATATATATTTATATATATAATATGTAATATATTATATATATT TATATATATAATATGTAATATATTATATATAAAAG	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0030 a0005c0010 a0001c0030 a0005c0010	a0001c0030t0042 a0005c0010t0037 a0001c0030t0042 a0005c0010t0037	a0001c0030t0042g0157 a0005c0010t0037g0069 a0001c0030t0042g0157 a0005c0010t0037g0069	2	356	0.0056	284	c.-11 others(305): Show c.-112+28750_-112+28751insATTATATATTTATATATTATATAT ATTTATATATATAATATGTAATATATTATATATATTTATATATATATGTA ATATATTATATATATTTATATATAATATGTAATATATTATATATTTATAT ATATAATATGTAATATATTATATATTTATATATATAATATGTAATATATT ATATATATTTATATATATAATATGTAATATATTATATATATTTATATATA TAATATGTAATATATTATATATATTTATATATATAATATGTAATATATTA TATATAAAAG	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12			chr13	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(277): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0108 a0003c0003t0001g0108	1	260	0.0039	284	c.138 others(303): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(277): Show AGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0148 a0005c0004t0001g0148	1	260	0.0039	284	c.138 others(303): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
ST7_chr7_116948501_117235176	117121887	T T	TAAGAGGA others(277): Show TAAGAGGAGACATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGT GAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18973.hp1 HG00642.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0009 a0001c0001t0001g0020	2	188	0.0106	284	c.394 others(301): Show c.394+2176_394+2177insCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCG CCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG AGGAGA	ST7	ENSG00000004866.22	transcript	ENST00000323984.8	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5064488	G G	GTTATATA others(277): Show GTTATATACATATATAATATATAAATATATACTTATGTTATATACATATA TAATATATAAATATATACTTATATACATATATAATATATAAATATATACT TATATACATATATAATATATAAATATATACTTATATACATATATAATATA TAAATATATACTTATATACATATATAATATATAAATATATACTTATATAC ATATATAATATATAAATATATACTTATATACATATATAATATATAAATAT ATACTTATATACATATATAATATATAAATATATAC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	170	0.0059	284	c.52+ others(301): Show c.52+12608_52+12609insGTTATATACATATATAATATATAAATAT ATACTTATATACATATATAATATATAAATATATACTTATATACATATATA ATATATAAATATATACTTATATACATATATAATATATAAATATATACTTA TATACATATATAATATATAAATATATACTTATATACATATATAATATATA AATATATACTTATATACATATATAATATATAAATATATACTTATATACAT ATATAATATATAAATATATACTTATATACATATATAATATATAAATATAT ACTTAT	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(277): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACGTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACAC GTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGT GTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGTGT GTATATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0247 a0001c0001t0002g0247	1	392	0.0026	284	c.271 others(301): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACACGTATATATATACACGTGTATATA TACACACGTGTATATATATACACGTGTATATATACACACACGTATATATA TACACGTGTATATATACACACACGTATATATATACACGTGTATATATACA CGTATATATATACACGTATATATACACACACACGTATATATATACACGTA TATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456829	T T	TACGTGTA others(277): Show TACGTGTATATATATACGTGTGTGTGTATATATACGTGTATATATATACG TGTATATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTA TATATATACACGTGTGTATATATACACGTGTATATATATACACGTGTGTA TATATACACGTGTATATATATACGTGTGTGTATATATACACGTGTATATA TATACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATA TACACGTGTATATATATACGTGTGTGTATATATAC	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0260	1	392	0.0026	284	c.271 others(301): Show c.271-3781_271-3780insGTATATATACACACACGTATATATATAC ACGTGTATATATACACACACGTATATATATACACGTGTATATATACACAC ACGTATATATATACACGTGTATATATACACACACGTATATATATACACGT GTATATATACACACGTGTATATATATACACGTGTATATATACACACGTGT ATATATATACACGTGTATATATACACACACGTATATATATACACGTGTAT ATATACACGTATATATATACACGTATATATACACACACACGTATATATAT ACACGT	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(277): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0023 a0001c0001t0011g0023	1	112	0.0089	284	c.101 others(305): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGAGA CACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(277): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGGGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0105 a0001c0001t0005g0105	1	112	0.0089	284	c.101 others(305): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGGGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGAGA CACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(277): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCG GCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01361.hp2 HG01515.hp1 HG01261.hp1 HG01361.hp2 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0020 a0001c0001t0004g0092 a0001c0001t0004g0101 a0001c0001t0004g0020 a0001c0001t0004g0092 a0001c0001t0004g0101	3	112	0.0268	284	c.101 others(305): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTG GCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGC CCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGC CAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGAGA CACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCCACC others(277): Show CCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCT GTACCCCACCCAGCCTCTCCCCCTGTGTGCCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCC CCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCGTGTGCCCCACCCAGCCTCTCCCCCCTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0004 a0005c0005t0004	a0005c0005t0004g0344 a0005c0005t0004g0344	1	370	0.0027	284	c.-10 others(295): Show c.-1039_-1038insCACAGGGGGGAGAGGCTGGGTGGGGCACACGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGGGGGGAGAGGCTGGGTGGGGCACACGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGCACACAGGGGGAGAGGCTGGGTGGGGTA CAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMCO3_chr13_113486021_113555229	113543205	T T	TGTCTGTG others(277): Show TGTCTGTGACCACCACCTCCCCCTGCGCCCCTACCCTCCCTGTGTGTGAC CCCCACCTCCTCCCCCTGCCCCCGCCCTCCCTCTGTGGGTGACTCCACTT CCTCCCCCTGCCCCCCGCCCTCCCTGTCCGTGACCCCACCTCCTCCCCCT GCCCTCCCTCTGTCCGTGACCCCCACCTCCTCCCCTTGCCCCCCCGCCCT CCCTCTGTCCGTGACCCCCTCCTCCCCCTGTGCCCCACCCTCTCTGTCTG TGACCCCCACCTCCTCCCCCTGCCCCCCGCCCTCC	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19064.hp1 NA19060.hp1 NA19064.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0301 a0003c0002t0002g0302 a0003c0002t0002g0301 a0003c0002t0002g0302	2	368	0.0054	284	c.169 others(303): Show c.1690+3698_1690+3699insGTCTGTGACCACCACCTCCCCCTGCG CCCCTACCCTCCCTGTGTGTGACCCCCACCTCCTCCCCCTGCCCCCGCCC TCCCTCTGTGGGTGACTCCACTTCCTCCCCCTGCCCCCCGCCCTCCCTGT CCGTGACCCCACCTCCTCCCCCTGCCCTCCCTCTGTCCGTGACCCCCACC TCCTCCCCTTGCCCCCCCGCCCTCCCTCTGTCCGTGACCCCCTCCTCCCC CTGTGCCCCACCCTCTCTGTCTGTGACCCCCACCTCCTCCCCCTGCCCCC CGCCCTCC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12			chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747572	C C	CTGGGGTA others(277): Show CTGGGGTAAAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGA AGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGG CTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTA GAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGG GAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGG GGTAGAAGGTGGGAGGCTGGGGTAGAAGGCGGGAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0061 a0003c0003t0061	a0003c0003t0061g0071 a0003c0003t0061g0071	1	314	0.0032	284	c.189 others(299): Show c.189-754_189-753insTGGGGTAAAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGC TGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGCGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAG GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGCG GGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11			chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129089164	C C	CGGGGCGT others(277): Show CGGGGCGTCCTCCCTGACCGGGACGTCCTCCATGACCGGGATGTCCTCCA TGACCGGGTGTCCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTC CATGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCGGGATGT CCTCCATGACCGGGATGTCCTCCATGACCGGGTGTCCTCCATGACCGGGT GTCCTCCCTGACCGGGGCGTCCTCCATGACCGGGGCGTCCTCCATGACCG GGTGTCCTCCATGACCGGGGTGTCCTCCATGACCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	94	0.0106	284	c.144 others(303): Show c.1444-4463_1444-4462insCGGTCATGGAGGACACCCCGGTCATG GAGGACACCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCCCCGGTC AGGGAGGACACCCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGG TCATGGAGGACATCCCGGTCATGGAGGACGCCCCGGTCATGGAGGACGCC CCGGTCATGGAGGACACCCGGTCATGGAGGACATCCCGGTCATGGAGGAC ACCCGGTCATGGAGGACATCCCGGTCATGGAGGACGTCCCGGTCAGGGAG GACGCCCC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	5/8			chr12	TogoVar
TMEM51_chr1_15148747_15225478	15225218	G G	GGGGGAGG others(277): Show GGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGGGGAGGGGAGGGAGGG GGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGGGGAGGAAAGCAGAGG GGATGGGAGGAGGAGGGGGAGGGGACAGGAGGGAAGTGAGGGGGAGGGGA TGTGAGGGGGGAGGGAGAGGGGAGGGGGAAGGGGAGGGTGAGGGAGGGGG GAGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGGGAGGGGAGAGGGGGA GGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0108	1	298	0.0034	284	c.54 others(295): Show c.5475_*5476insGGGGAGGGTGGAGGGGATGGGAGGGAGGGGGAGG GGAGGGGAGGGAGGGGGAGGGGAGGGAGAGGGAAGGGAGGGGAGGGAGGG GGAGGAAAGCAGAGGGGATGGGAGGAGGAGGGGGAGGGGACAGGAGGGAA GTGAGGGGGAGGGGATGTGAGGGGGGAGGGAGAGGGGAGGGGGAAGGGGA GGGTGAGGGAGGGGGGAGGGGAGGGAGGGAGTGGGGGGAGGGAGTGGGGG GAGGGGAGAGGGGGAGGGGAGGGAGTGGGGGAGAGGGGGAGGGGAGGGGA	TMEM51	ENSG00000171729.14	transcript	ENST00000376008.3	protein_coding		4741		chr1	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(277): Show TTATATATACATATATATTCTTTTATATATTTATATATAAATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATATATTTATATATAAATATATATTCTTTTATATATATATATAAAT ATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 NA18985.hp1 HG02486.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0076 a0001c0001t0017g0226 a0001c0001t0001g0076 a0001c0001t0017g0226	2	348	0.0058	284	c.11 others(297): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATTTATATATAAATATATAAAAGAATATATATGTATATA TA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(277): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTCTTTTATATATTTATATATAAATATATATTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATATATATTTATATATAA ATATATATTCTTTTATATATATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp1 NA18993.hp2 NA18952.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0075 a0001c0001t0001g0129	2	348	0.0058	284	c.11 others(297): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATATATATAAAAGAATATA TATTTATATATAAATATATATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAATATATATTTATATATAAATATATAAAAGAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATA TA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TMEM65_chr8_124301189_124377701	124302741	T T	TTATATAT others(277): Show TTATATATACATATATATTCTTTTATATATTTATATATACATATATATTC TTTTATATATTTATATATAAATATATATTCTTTTATATATTTATATATAA ATATATATTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATATATTTATATATAAATATATATTCTTTTATATATATATATAAAT ATATATTCTTTTATATATTTATATATAAATATATATTCTTTTATATATTT ATATATAAATATATATTCTTTTATATATTTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	348	0.0029	284	c.11 others(297): Show c.11218_*11219insTATATAAATATATAAAAGAATATATATTTATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAGAATA TATATTTATATATATATATAAAAGAATATATATTTATATATAAATATATA TATAAATATATAAAAGAATATATATTTATATATAAATATATAAAAATATA TATTTATATATAAATATATAAAAGAATATATATTTATATATAAATATATA AAAGAATATATATGTATATATAAATATATAAAAGAATATATATGTATATA TA	TMEM65	ENSG00000164983.9	transcript	ENST00000297632.8	protein_coding		3447		chr8	TogoVar
TNFRSF18_chr1_1198508_1211592	1202419	C C	CCGAGCCC others(277): Show CCGAGCCCAGTACCTAGCCCCGAGCCCAGTACCCAGTCTCCAGCCCAGTA CCCAGCCCCGAGCCCAGTACCCATCCCGAGCCCAGTACCCATCCCCGAGC CCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGC CCCGAGCCCAGTACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGT ACCCAGCCTCCAGCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCTCCA GCCCAGTACCCAGCCCCGAGCCCAGTACCCAGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	386	0.0026	284	c.14 others(295): Show c.1424_*1425insAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGG CTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGG TACTGGGCTCGGGGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGG GGCTGGGTACTGGGCTGGAGGCTGGGTACTGGGCTCGGGGCTGGGTACTG GGCTCGGGGATGGGTACTGGGCTCGGGATGGGTACTGGGCTCGGGGCTGG GTACTGGGCTGGAGACTGGGTACTGGGCTCGGGGCTAGGTACTGGGCTCG	TNFRSF18	ENSG00000186891.14	transcript	ENST00000379268.7	protein_coding		1088		chr1	TogoVar
TNNT1_chr19_55127698_55154206	55134768	A A	AGGAGAAG others(277): Show AGGAGAAGAGGGGAGGGGAGAGGAGAAGAGGGGAGGGGAGAGGAGGGAAG AAGAAGGGAGGGGAGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAG GGGAGGAGAGGGGAGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAG GGGATGGGAAAATAGGGAGGGGAGGGAGGAGAGGGGAGGAGAGGGGAGGA GAGAAGAGGGGGAGGGGGAGGGGGAGGAAAGGGAGAGGGGAGGGAGAGAA GGAGAGGGAGGGGAGGGGGAGAAAGGGGAGGAAGG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	320	0.0031	284	c.612 others(299): Show c.612-565_612-564insCCTTCCTCCCCTTTCTCCCCCTCCCCTCCC TCTCCTTCTCTCCCTCCCCTCTCCCTTTCCTCCCCCTCCCCCTCCCCCTC TTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCTCCCCTCCCTATTTTCCC ATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTTCTGCCCTCCCCTCTC CTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCCCTCCCCTCCCCTCCC TTCTTCTTCCCTCCTCTCCCCTCCCCTCTTCTCCTCTCCCCTCCCCTCTT CTCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GTAGGGAG others(277): Show GTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCC GGGGTTAGGGAGGCCAGGGTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGA GGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCA GGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0016 a0002c0002t0016	a0002c0002t0016g0129 a0002c0002t0016g0129	1	466	0.0022	284	c.49 others(295): Show c.4905_*4906insACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCC CTGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGC CTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCC TAACCCCGGCCTCCCTAACCCCGGCCTCCCTACCCTGGCCTCCCTAACCC CGGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCGGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TPK1_chr7_144446941_144841053	144488797	G G	GGAGGCAC others(277): Show GGAGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGG AGGCACACACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAG GCACACACATGGGTGCACCCACATGCACACACGTGCAGGTAGAGGCACAC ACATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGCACACAC ATGGGTGCACCCACATGCACACACACACGTGCACGTGGAGGTACACACAT GGGTGCACCCACATGCACACACACACGTGCATGTA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00735.hp2 HG00741.hp2 others(19): Show HG00642.hp1 HG00735.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp2 HG01106.hp2 HG01361.hp2 HG01884.hp1 HG02145.hp2 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG03471.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 others(19): Show a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0097 a0001c0001t0002g0008 a0001c0001t0002g0098 a0001c0001t0004g0047 a0001c0001t0004g0096 a0001c0001t0004g0118 a0001c0001t0005g0035 a0001c0001t0005g0049 a0001c0001t0005g0056	22	118	0.1864	284	c.614 others(303): Show c.614-35135_614-35134insTACATGCACGTGTGTGTGTGCATGTG GGTGCACCCATGTGTGTACCTCCACGTGCACGTGTGTGTGTGCATGTGGG TGCACCCATGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTG CACCCATGTGTGTGCCTCTACCTGCACGTGTGTGCATGTGGGTGCACCCA TGTGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTGCACCCATG TGTGTGCCTCCACGTGCACGTGTGTGTGTGCATGTGGGTGCACCCATGTG TGTGCCTC	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	8/8			chr7	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(277): Show GTATATATGTATATATACGTGTATACACGTATATATACATGTATATATGT ATATATACGTGTATACACGTATATATACATGTATATATGTATATATACGT GTATACACGTATATATACATGTATATATGTATATATACGTATCTACATGT ATACATGTATATATGTATACATGTGTATACATGTATGTATGTGTATATAT GTATACATGTATGTGTATATATGTATACATGTATATATGTATACATACAC GCGCGTGTATATATGTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0248 a0001c0001t0004g0248	1	388	0.0026	284	c.-23 others(301): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACATGTATACATATATACACATACA TGTATACATATATACACATACATACATGTATACACATGTATACATATATA CATGTATACATGTAGATACGTATATATACATATATACATGTATATATACG TGTATACACGTATATATACATATATACATGTATATATACGTGTATACACG TATATATACATATATACATGTATATATACGTGTATACACGTATATATACA TATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507585	G G	GTATATAT others(277): Show GTATATATACGTGTATACACGTATATATACATGTATATATGTATACGTGT ATACACGTATACATATGTATATATGTATACGTGTATACACATGTATATAT GTATACGTGTGTACACATGTATACATGTATACGTGTGTACACATGTATAC ATGTGTACACATGTATACACGTGTATACATGTGTACACATGTATATATGT ATACATGTGTACACATGTATACATGTGTATACATGTGTACACATGTATAT ATGTGTATACATGTGTATACATGTATGTATGTGTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0282 a0001c0001t0022g0282	1	388	0.0026	284	c.-23 others(301): Show c.-23+2462_-23+2463insTACACATACATACATGTATACACATGTA TACACATATATACATGTGTACACATGTATACACATGTATACATGTGTACA CATGTATACATATATACATGTGTACACATGTATACACGTGTATACATGTG TACACATGTATACATGTGTACACACGTATACATGTATACATGTGTACACA CGTATACATATATACATGTGTATACACGTATACATATATACATATGTATA CGTGTATACACGTATACATATATACATGTATATATACGTGTATACACGTA TATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097495	A A	ATATACAT others(277): Show ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGT GTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTAT ATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACAT ATACACGCGTGTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	334	0.0030	284	c.-47 others(295): Show c.-4715_-4714insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATA TGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4689		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097594	T T	TGTGTGTA others(277): Show TGTGTGTATATACATATACACGCGTGCGTATATATACATATACACGCGTG CGTATATACATATACACGCGTGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATA CATATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACA TATACACGCGTGCGTATATATACATATACACGCGTGCGTATATATACATA TACACGCGTGCGTATATATACATATACACGCGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0194	1	334	0.0030	284	c.-48 others(295): Show c.-4814_-4813insGCACGCGTGTATATGTATATATACGCACGCGTGT ATATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTAT ATGTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATAT GTATATATACGCACGCGTGTATATGTATATATACGCACGCGTGTATATGT ATATACGCACGCGTGTATATGTATATACGCACGCGTGTATATGTATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATACACAC	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4788		chr20	TogoVar
TULP4_chr6_158307465_158516828	158331720	C C	CGTATATA others(277): Show CGTATATATACGTGTATATATACACGTATATATATATATATACGTGTATA TATACACGTATATATATATATATATACGTGTATATATACACGTGTATATA TATATATACGTGTATATATACACGTATATATATATATATATACGTGTATA TATACACGTATATATATATATATATACGTGTATATATACACGTATATATA TATATATACGTGTATATATACACGTATATATATATATATACGTGTATATA TACACGTATATATATATATATATATACGTGTATAT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	1	268	0.0037	284	c.252 others(303): Show c.252+17452_252+17453insGTATATATACGTGTATATATACACGT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAC GTGTATATATACACGTGTATATATATATATACGTGTATATATACACGTAT ATATATATATATATACGTGTATATATACACGTATATATATATATATATAC GTGTATATATACACGTATATATATATATATACGTGTATATATACACGTAT ATATATATATATACGTGTATATATACACGTATATATATATATATATATAC GTGTATAT	TULP4	ENSG00000130338.13	transcript	ENST00000367097.8	protein_coding	1/13			chr6	TogoVar
TWIST2_chr2_238843085_238915534	238870261	A A	ACACACCC others(277): Show ACACACCCCATACACACCACACACCCCATACACACCACACACCCCACACA CACCACACACCACACACACACCACACACACACCACACACCACACCCCACA CACCACACCCCACACACACCACACCCCACACACACCACACCCCATACACA CCACACCCCACACACACCACACCCCACACACCCCCCACACACCCCACACA CACCACACCCCACACACACCACACCCCCCACACACCACACCCCACACACC CCCCACACACACCACACCCCATACACACCACACCC	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0269 a0001c0001t0002g0269	1	338	0.0030	284	c.35 others(303): Show c.35+21528_*35+21529insCACACCCCATACACACCACACACCCC ATACACACCACACACCCCACACACACCACACACCACACACACACCACACA CACACCACACACCACACCCCACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCATACACACCACACCCCACACACACCACACCCCAC ACACCCCCCACACACCCCACACACACCACACCCCACACACACCACACCCC CCACACACCACACCCCACACACCCCCCACACACACCACACCCCATACACA CCACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TWIST2_chr2_238843085_238915534	238870316	C C	CACCACAC others(277): Show CACCACACACACACATCACATACCACACACCCGACACACGCCACACACAC ACCATACACCCCCCACACACCACACCCCACACACCATACACACCACACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACCCCACACACACCACACACCCCACACACACCACAC ACCCCACACACACCACACCCCACACACACCACACA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	338	0.0030	284	c.35 others(303): Show c.35+21583_*35+21584insACCACACACACACATCACATACCACA CACCCGACACACGCCACACACACACCATACACCCCCCACACACCACACCC CACACACCATACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCACACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCACACAC ACCACACA	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1			chr2	TogoVar
TXNDC16_chr14_52425596_52557505	52530564	T T	TATAATAA others(277): Show TATAATAATATAATATATAATTATATAATATTATATATAATAATATAATA TATATTATTATATAATATTATATATAATAATATAATATATATTATATATT ATTATATATAATAATATAATATATATTATTATATATTATTATATATAATA ATATAATATATATTATTATATATTATTATATATAATAATATAATATATAT TATAATATATAATATAATATATATTATATATTATTATATATAATAATATA ATATATATTATATATATTATTATATATTATTATAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02895.hp2 HG01496.hp1 HG02895.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0006 a0005c0006t0006	a0005c0006t0006g0192 a0005c0006t0006g0195 a0005c0006t0006g0192 a0005c0006t0006g0195	2	238	0.0084	284	c.392 others(301): Show c.392+6154_392+6155insTTATAATAATATATAATAATATATATAA TATATATTATATTATTATATATAATAATATATAATATATATTATATTATA TATTATAATATATATTATATTATTATATATAATAATATATAATAATATAT ATTATATTATTATATATAATAATATATAATAATATATATTATATTATTAT ATATAATAATATATAATATATATTATATTATTATATATAATATTATATAA TAATATATATTATATTATTATATATAATATTATATAATTATATATTATAT TATTAT	TXNDC16	ENSG00000087301.9	transcript	ENST00000281741.9	protein_coding	6/20			chr14	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(277): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATGTGTGTGTATACGCATACACA CACATATATGTGTGTGTATACGCATACACACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0093 a0001c0001t0012g0093	1	320	0.0031	284	c.-38 others(295): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATGTGTGT GTATACGCATACACACACATATATGTGTGTGTATACGCATACACACACAT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
USP37_chr2_218445251_218573351	218476407	C C	CTACAAAA others(277): Show CTACAAAAAATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTC TGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTG CAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCATGATCCACCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	282	0.0036	284	c.204 others(301): Show c.2043+432_2043+433insCTTTGGGAGGCCGAGGCGGGTGGATCAT GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAATTT TTTGTA	USP37	ENSG00000135913.11	transcript	ENST00000258399.8	protein_coding	19/25			chr2	TogoVar
VCX3B_chrX_8459830_8471510	8466909	A A	AGGGAGGG others(277): Show AGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAA GAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG GAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0009 a0008c0006t0009	a0008c0006t0009g0005 a0008c0006t0009g0005	1	271	0.0037	284	c.52 others(293): Show c.526_*527insGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGG GGAGGGAGGGAGGGAGGAAGCGGTGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		400		chrX	TogoVar
VCX_chrX_7838171_7849143	7844510	A A	AGGTGTGT others(277): Show AGGTGTGTGAGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAG GGAGGAAGAGGTGTGTGAGGAGGGAGGAGGAAGAGGAGGTGTGTGGGGAG GGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGTGGTGT GTGAGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGAG GAGGTGTGTGGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGG AGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0039 a0002c0039	a0002c0039t0003 a0002c0039t0003	a0002c0039t0003g0002 a0002c0039t0003g0002	1	341	0.0029	284	c.49 others(293): Show c.494_*495insGGTGTGTGAGGAGGGAGGAGGAAGAGGTGGTGTGTG GGGAGGGAGGGAGGGAGGAAGAGGTGTGTGAGGAGGGAGGAGGAAGAGGA GGTGTGTGGGGAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAG GAATAGGTGGTGTGTGAGGAGGGAGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGAGGAGGTGTGTGGG GAGGGAGGGAGGGAGAGGAGGTGTGTGGGGAGGGAGGGAGGAATAGGT	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		368		chrX	TogoVar
VIPR2_chr7_159023175_159149867	159063777	A A	AGGTGGGG others(277): Show AGGTGGGGTCTGGGAGTCCAGGTGGGGTCTGGGGGTCCTGGTGGGGTCCG GGGGTCCTGGTGGGGTCTGGGGGGCCTGGTGGGTTCCGGGGGTCCTGGTG GGGTCTGGGGGTCCTGGGGGGATCTGGGGTTCCTGGAGGGATGTGGGGTC CTGGTTGGATCTGGGGGGCCTGGCGGGGTCTGGGAGTCCAGGTGGGGTCT GGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGGTCTGGGGGGCCTGGT GGGGTCCGGGGATCCTGGTGGGGTCCGGGGGTCCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19240.hp2 HG02647.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0013	a0001c0005t0013g0174 a0001c0005t0013g0175 a0001c0005t0013g0174 a0001c0005t0013g0175	2	336	0.0060	284	c.358 others(301): Show c.358-5200_358-5199insAGGACCCCCGGACCCCACCAGGATCCCC GGACCCCACCAGGCCCCCCAGACCCCACCAGGACCCCCGGACCCCACCAG GACCCCCAGACCCCACCTGGACTCCCAGACCCCGCCAGGCCCCCCAGATC CAACCAGGACCCCACATCCCTCCAGGAACCCCAGATCCCCCCAGGACCCC CAGACCCCACCAGGACCCCCGGAACCCACCAGGCCCCCCAGACCCCACCA GGACCCCCGGACCCCACCAGGACCCCCAGACCCCACCTGGACTCCCAGAC CCCACC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(277): Show CGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	408	0.0025	284	c.53+ others(299): Show c.53+2028_53+2029insAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGT ATCTATCGATAGATAGATGTATCTATCGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CGATAGAT others(277): Show CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0073 a0001c0002t0001g0073	1	408	0.0025	284	c.53+ others(299): Show c.53+2072_53+2073insGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
VPS16_chr20_2835745_2871732	2842868	A A	AGATAGAT others(277): Show AGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	408	0.0025	284	c.53+ others(299): Show c.53+2076_53+2077insGTATCTATCGATAGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT AGAT	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr20	TogoVar
WDR70_chr5_37374318_37758435	37688693	T T	TAAAAATA others(277): Show TAAAAATAAGCAAATTTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	242	0.0041	284	c.109 others(303): Show c.1093-8946_1093-8945insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATAA GCAAATTT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
XG_chrX_2747040_2821500	2773694	A A	AGAAGGAA others(277): Show AGAAGGAAGGAAGGAGAGAGGGAAGGAAGGAGAGAGGGAAGGAAGGAGAG AGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAA GGAAGGAAGGAGAGAAGGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAAGGAG AGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAG AAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0026 a0001c0001t0027g0026	1	322	0.0031	284	c.104 others(301): Show c.104-1004_104-1003insGGGAAGGAAGGAGAGAGGGAAGGAAGGA GAGAGGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGA GAAGGAAGGAAGGAGAGAAGGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAAG GAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGA GAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAGAGAAGGAAGGAAGGAAG GAGAGA	XG	ENSG00000124343.14	transcript	ENST00000644266.2	protein_coding	2/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
ZNF365_chr10_62369369_62407450	62370969	G G	GATATATA others(277): Show GATATATATCATATATATCACATATGCTATATAGCATATGTGATATATAT CATATATATCACATATGCTATATAGCATACGTGATATATATCATATATAT CATATATGATGTATAGCATGATATATATGCTATATATCACATGTGATATA TAGCATATATATCACATGTGATATATAGCATATATATCACATGTGATATA TAGCATATGTGATATATATGATATATGTGATATATATCATATGTGATATA TATGATATATATCACATATATATGATATATATCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	350	0.0029	284	c.-35 others(295): Show c.-3503_-3502insATATATATCATATATATCACATATGCTATATAGC ATATGTGATATATATCATATATATCACATATGCTATATAGCATACGTGAT ATATATCATATATATCATATATGATGTATAGCATGATATATATGCTATAT ATCACATGTGATATATAGCATATATATCACATGTGATATATAGCATATAT ATCACATGTGATATATAGCATATGTGATATATATGATATATGTGATATAT ATCATATGTGATATATATGATATATATCACATATATATGATATATATCAC	ZNF365	ENSG00000138311.18	transcript	ENST00000395254.8	protein_coding		3399		chr10	TogoVar

Search by Variant

Search

Search Results