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
RUNDC3B_chr7_87623398_87837296	87626748	A A	ATGTGTCA others(307): Show ATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATAT ATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATA TGTGTCATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	202	0.0050	314	c.-20 others(325): Show c.-2076_-2075insTGTGTCATATATATGTGTCATATATATGTGTCAT ATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTC ATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATGTG TCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATATG TGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATATA TGTGTCATATATATGTGTCATATATATGTGTCATATATATGTGTCATATA TATGTGTCATATATATGTGTCATATATATG	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1649		chr7	TogoVar
RXFP1_chr4_158516882_158658372	158628943	T T	TAAGGCCG others(307): Show TAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGC CGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCAGCTAAAA CGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCCGGGCGTAG TGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATG GCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGC ACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	210	0.0048	314	c.899 others(329): Show c.899+236_899+237insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	RXFP1	ENSG00000171509.16	transcript	ENST00000307765.10	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RYR2_chr1_237037184_237838988	237405894	T T	TGAAAAAA others(307): Show TGAAAAAACTTTCTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0084 a0001c0003t0003g0084	1	100	0.0100	314	c.774 others(333): Show c.774-11141_774-11140insTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAAAAAACTTTCTT	RYR2	ENSG00000198626.18	transcript	ENST00000366574.7	protein_coding	10/104		INFO_REALIGN_3_PRIME	chr1	TogoVar
SART1_chr11_65956734_65985137	65971134	A A	ATGGTGGG others(307): Show ATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGC TGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGG TGGGATTCATGAGCTGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAG GAGGGGGATGGTGGGATTCAGAAGCTGAGGAGGGGGATGGTGGGATTCAT GAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGC TGAGGAGGGGGATGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0230 a0001c0002t0003g0230	1	384	0.0026	314	c.157 others(333): Show c.1572+3316_1572+3317insTGGGATTCATGAGCTGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGA GCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGAT GGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGAAGCTGAGG AGGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATG AGCTGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(307): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACA ATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCAC CCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19240.hp1 NA19240.hp2 HG02723.hp1 NA19240.hp1 NA19240.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0011 a0003c0003t0011	a0003c0003t0011g0101 a0003c0003t0011g0102 a0003c0003t0011g0107 a0003c0003t0011g0101 a0003c0003t0011g0102 a0003c0003t0011g0107	3	414	0.0073	314	c.678 others(329): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATTA CAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTG TCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCA GCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(307): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAA CTGTTGTCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACA ATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCAC CCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0309 a0003c0005t0005g0309	1	414	0.0024	314	c.678 others(329): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAGAGGAAGGAAGGAAGGAGACAACAGTTTTCAAGTACATTA CAAATAATAAATAATTTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTG TCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCA GCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SBSPON_chr8_73059543_73098172	73067663	A A	AGGCTGGG others(307): Show AGGCTGGGGTAGGAGGATTGCTTGAGCCCAGGAGCTGGAGGCTGCAGTGA GCCGTGATCTCACCGCTGCACTTCAGCCTAGGTGACAGAGTGAAACCCTG TCTCAAAAAAAAAAAAAAAATTATTTATTATTTGTAATGTACTTGAAAAC TGTTATCTCCTTCCTTCCTTCCTCTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTAGACAGGGTCTCCCTCTGCCGCTTAGGCTGCGGTGCAGTGGCACA ATCATGGCTCACTGCAGCCTCTAATTCTTGGGCTCAAGCAGTCCTCCCAC CCCAGCCTCCAAGGT	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03453.hp2 NA18522.hp1 HG03195.hp2 HG03453.hp2 NA18522.hp1	a0003 a0003	a0003c0005 a0003c0009 a0003c0005 a0003c0009	a0003c0005t0011 a0003c0009t0011 a0003c0005t0011 a0003c0009t0011	a0003c0005t0011g0043 a0003c0009t0011g0298 a0003c0005t0011g0043 a0003c0009t0011g0298	3	414	0.0073	314	c.678 others(329): Show c.678-206_678-205insACCTTGGAGGCTGGGGTGGGAGGACTGCTT GAGCCCAAGAATTAGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACCG CAGCCTAAGCGGCAGAGGGAGACCCTGTCTAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAGAGGAAGGAAGGAAGGAGATAACAGTTTTCAAGTACATT ACAAATAATAAATAATTTTTTTTTTTTTTTTGAGACAGGGTTTCACTCTG TCACCTAGGCTGAAGTGCAGCGGTGAGATCACGGCTCACTGCAGCCTCCA GCTCCTGGGCTCAAGCAATCCTCCTACCCCAGCC	SBSPON	ENSG00000164764.11	transcript	ENST00000297354.7	protein_coding	4/4			chr8	TogoVar
SCFD2_chr4_52867982_53371061	52985668	T T	TAAAAAAT others(307): Show TAAAAAATTAGTCCAGGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCATTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01358.hp2 HG02486.hp2 others(2): Show HG00408.hp1 HG01358.hp2 HG02486.hp2 NA18612.hp2 NA18978.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0003 a0002c0006t0003	a0001c0001t0001g0125 a0001c0001t0002g0113 a0001c0001t0002g0139 others(2): Show a0001c0001t0001g0125 a0001c0001t0002g0113 a0001c0001t0002g0139 a0001c0003t0003g0007 a0002c0006t0003g0084	5	162	0.0309	314	c.156 others(335): Show c.1562-64799_1562-64798insTTTTTTTTTTTTTTTTGAGACAGA GTCTCGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCTCCTGGACTAATTTTTT	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8			chr4	TogoVar
SCNN1D_chr1_1275436_1297025	1288943	C C	CCGTGTCC others(307): Show CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCT GCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	290	0.0035	314	c.166 others(331): Show c.1662+907_1662+908insGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGT CTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCCCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289129	T T	TCCCCCGT others(307): Show TCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCTGTCCCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGC CCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCC	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0083 a0002c0003t0002g0083	1	290	0.0035	314	c.166 others(333): Show c.1662+1095_1662+1096insCCGTGTCCCTGCTCCGTCCCCCGTGT CCCTGCTCTGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289747	C C	CCGTGTCT others(307): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCCCTGCTCCGT	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0102	1	290	0.0035	314	c.166 others(331): Show c.1663-523_1663-522insGTGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3976713	G G	GGGGTCCC others(307): Show GGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCAC TGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCA CTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCT CCAGAGAATCACTGA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0066 a0002c0066	a0002c0066t0023 a0002c0066t0023	a0002c0066t0023g0089 a0002c0066t0023g0089	1	116	0.0086	314	c.199 others(333): Show c.1994+2243_1994+2244insACAGAGGGTCCTCCAGAGAATCACTG AGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACT GAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCAC TGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGACGGTCCTCC AGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEC11C_chr18_59134884_59163832	59152232	G G	GCAGGACT others(307): Show GCAGGACTTTTTTTTTTTTTTTTTTTTTTTGTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAG TAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGA GCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	444	0.0023	314	c.198 others(329): Show c.198-291_198-290insTTTTTTTTTTTTTTTTGTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACCACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCAGGACTTTTTTT	SEC11C	ENSG00000166562.9	transcript	ENST00000587834.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(307): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGAGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0082 a0001c0001t0003g0082	1	370	0.0027	314	c.-30 others(333): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCTCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGGGG others(307): Show GGGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGA GCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAG GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00621.hp1 HG01167.hp1 others(15): Show HG00558.hp2 HG00621.hp1 HG01167.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01516.hp1 HG02055.hp2 HG02723.hp1 HG02809.hp1 HG03017.hp1 HG03579.hp1 HG04228.hp1 NA18971.hp2 NA19030.hp1 NA19030.hp2 NA19082.hp1 NA19085.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0001c0013 others(3): Show a0001c0001 a0001c0004 a0001c0013 a0002c0002 a0002c0009 a0004c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0024 a0001c0004t0004 a0001c0013t0004 a0002c0002t0001 a0002c0009t0004 a0004c0006t0006	a0001c0001t0001g0076 a0001c0001t0001g0121 a0001c0001t0001g0125 others(15): Show a0001c0001t0001g0076 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0003g0013 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0134 a0001c0001t0006g0017 a0001c0001t0006g0019 a0001c0001t0011g0298 a0001c0001t0024g0079 a0001c0004t0004g0198 a0001c0004t0004g0199 a0001c0013t0004g0230 a0002c0002t0001g0142 a0002c0002t0001g0179 a0002c0009t0004g0120 a0004c0006t0006g0022	18	370	0.0487	314	c.-30 others(333): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SEPTIN14_chr7_55788540_55867752	55847849	A A	ACCAACTG others(307): Show ACCAACTGATCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT GTGTCTCCCAGGTTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCT CCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTATTTTTAGT AGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTAGGATTACAGGCGTGAG CCACCGCGCCCGGCT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0039 a0009c0013t0039	a0009c0013t0039g0008 a0009c0013t0039g0008	1	390	0.0026	314	c.55- others(329): Show c.55-1213_55-1212insAGCCGGGCGCGGTGGCTCACGCCTGTAATC CTAGCACTTTGGGAGGCCGAGACGGGCGGATCACGAGGTCAGGAGATCGA GACCATCTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAA AATTAGCCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCTGGGAGGCGGAGCTTGCAGTGAGCC GAGATCGCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAGATCAGTTGG	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	2/9			chr7	TogoVar
SEPTIN7_chr7_35796057_35912110	35803710	A A	ACAAAACT others(307): Show ACAAAACTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CTGCCTCCTGGATTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0168 a0001c0001t0025g0168	1	346	0.0029	314	c.61+ others(329): Show c.61+2451_61+2452insTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCTGCCTCCTGGATTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCAAAACTTTTT	SEPTIN7	ENSG00000122545.22	transcript	ENST00000350320.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINA4_chr14_94556442_94574906	94558268	A A	ACAAGGAC others(307): Show ACAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTTGAGAGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(67): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00733.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01981.hp1 HG02080.hp1 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp1 HG02647.hp1 HG02735.hp1 HG02818.hp2 HG03195.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG04115.hp1 HG04228.hp1 NA18940.hp1 NA18943.hp2 NA18952.hp2 NA18957.hp2 NA18967.hp1 NA18973.hp2 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18997.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0011 a0001c0001 a0001c0003 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0011t0001	a0001c0001t0001g0044 a0001c0001t0002g0001 a0001c0003t0001g0003 others(11): Show a0001c0001t0001g0044 a0001c0001t0002g0001 a0001c0003t0001g0003 a0001c0003t0001g0008 a0001c0003t0001g0011 a0001c0003t0001g0013 a0001c0003t0001g0016 a0001c0003t0001g0031 a0001c0003t0001g0033 a0001c0003t0001g0040 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0002c0011t0001g0052	70	428	0.1636	314	c.-32 others(325): Show c.-3244_-3243insCAAGGACAGCCTTTTTTTTTTTTTTTTTTTTTTT GAGAGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCC	SERPINA4	ENSG00000100665.12	transcript	ENST00000557004.6	protein_coding		3173		chr14	TogoVar
SERPINB6_chr6_2943159_2976567	2972360	C C	CAAGAAAC others(307): Show CAAGAAACTCAAACAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCAGAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACACAGTGAAACCCCGCCTCTACTAAAAATACAAAAAAAA TTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA19002.hp2 NA19075.hp2 NA18974.hp1 NA19002.hp2 NA19075.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0047 a0002c0003t0001g0055 a0002c0003t0001g0057 a0002c0003t0001g0047 a0002c0003t0001g0055 a0002c0003t0001g0057	3	384	0.0078	314	c.-83 others(323): Show c.-839_-838insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTGTATTTTTAGTAG AGGCGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCA TGATCCGCCCGCCTCTGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCTTGTTTGAGTTTCTT	SERPINB6	ENSG00000124570.21	transcript	ENST00000380539.7	protein_coding		794		chr6	TogoVar
SH3BGRL2_chr6_79626329_79708655	79688963	T T	TCACACAA others(307): Show TCACACAATTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0101 a0001c0001t0038g0101	1	348	0.0029	314	c.232 others(331): Show c.232-7509_232-7508insTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCT CCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCCACACAATTCTTT	SH3BGRL2	ENSG00000198478.8	transcript	ENST00000369838.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
SHANK1_chr19_50654255_50724802	50678920	G G	GATGGGGA others(307): Show GATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGTGGGGAGGGGT CAGGGTTACAAGCATTACAGGTAAGGGGTGAGGGTGATGGGGGGGTGTCA GTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTG ATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGGGTGATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGGGTGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0102 a0001c0003t0102	a0001c0003t0102g0303 a0001c0003t0102g0303	1	316	0.0032	314	c.257 others(333): Show c.2578-6807_2578-6806insTCACCCTGACCCCTCCCCATCACCCT GACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCCCTCCCCA TCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACACCCCCC CATCACCCTCACCCCTTACCTGTAATGCTTGTAACCCTGACCCCTCCCCA CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SHC2_chr19_411589_466033	457347	A A	AGGCCTTT others(307): Show AGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGAACTATGTCTGCAA ACCCCACCGCATCGGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGA ACTCTGTCTGCAAACCCCACCACATCAGGCCTTTGCACCTGCACCTGCTG TGCCCCGACTAGAACTCTGTCTGCAAACCCCACCATATCAGGCCTTTGCA CCTGCACCTGCTGTACCCCCCCTAGATCTCTGTCTGCAAACCCACCATAT CAGGCCTTTGCACCTGCACCTGCTGTGCCCCGTCTAGAACTATGTCTGCA AACCCCACCGCATCG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02055.hp2 HG02258.hp2 others(10): Show HG01258.hp1 HG02055.hp2 HG02258.hp2 HG02922.hp1 HG03195.hp2 HG03579.hp2 HG03942.hp2 HG04204.hp1 HG04228.hp2 NA18947.hp1 NA18960.hp2 NA18971.hp1 NA19080.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0018 a0002c0004 a0009c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0002 a0001c0018t0006 a0002c0004t0005 a0009c0021t0002	a0001c0001t0001g0176 a0001c0001t0003g0036 a0001c0001t0003g0171 others(10): Show a0001c0001t0001g0176 a0001c0001t0003g0036 a0001c0001t0003g0171 a0001c0001t0003g0180 a0001c0002t0001g0172 a0001c0002t0003g0173 a0001c0002t0003g0178 a0001c0002t0004g0174 a0001c0002t0004g0175 a0001c0003t0002g0181 a0001c0018t0006g0179 a0002c0004t0005g0190 a0009c0021t0002g0032	13	212	0.0613	314	c.468 others(331): Show c.468+3181_468+3182insCGATGCGGTGGGGTTTGCAGACATAGTT CTAGACGGGGCACAGCAGGTGCAGGTGCAAAGGCCTGATATGGTGGGTTT GCAGACAGAGATCTAGGGGGGGTACAGCAGGTGCAGGTGCAAAGGCCTGA TATGGTGGGGTTTGCAGACAGAGTTCTAGTCGGGGCACAGCAGGTGCAGG TGCAAAGGCCTGATGTGGTGGGGTTTGCAGACAGAGTTCTAGACGGGGCA CAGCAGGTGCAGGTGCAAAGGCCCGATGCGGTGGGGTTTGCAGACATAGT TCTAGACGGGGCACAGCAGGTGCAGGTGCAAAGGCC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHISA7_chr19_55423740_55448300	55448053	A A	ACACACAC others(307): Show ACACACACCACACACACCACACATACACATACACCACACACTGACCCTCC ACACCACACACGCCGCACAGACCACACATACACACACACACCACACACAC ACCACACACACCACACATACACACACACACCACACACTGACCCTCCACAC CACACACACGCCACACAGACCACACATTACACACACACGCCACACACACA CACCACACACTGACCCCCCCACACCACACACACGCCACACAGGCCACACA TACACACACACACCACCCACAGACCACACAAACACACACACCACACACAC ACACACCACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0036 a0001c0001t0015g0036	1	372	0.0027	314	c.-51 others(325): Show c.-5191_-5190insGTGTGTGTGGTGTGTGTGTGTGTGGTGTGTGTGT TTGTGTGGTCTGTGGGTGGTGTGTGTGTGTATGTGTGGCCTGTGTGGCGT GTGTGTGGTGTGGGGGGGTCAGTGTGTGGTGTGTGTGTGTGGCGTGTGTG TGTAATGTGTGGTCTGTGTGGCGTGTGTGTGGTGTGGAGGGTCAGTGTGT GGTGTGTGTGTGTATGTGTGGTGTGTGTGGTGTGTGTGTGGTGTGTGTGT GTATGTGTGGTCTGTGCGGCGTGTGTGGTGTGGAGGGTCAGTGTGTGGTG TATGTGTATGTGTGGTGTGTGTGGTGTGTG	SHISA7	ENSG00000187902.13	transcript	ENST00000376325.10	protein_coding		4754		chr19	TogoVar
SIGIRR_chr11_400716_419999	401971	G G	GACCCGCT others(307): Show GACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCCGCTCACACCCGCCC CGCTCACACCCGACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTC ACCCCCGACCCGCTCACCCCAGCCCCGCTCACCCCCGACCCGCTCACCCC GGACCCCGCTCACACCGGACCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACCCCCGACCCGCTCACCCCCGACCCGCTCACCCCGGGCCCC GCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTC ACACCCGACCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	242	0.0041	314	c.39 others(325): Show c.3924_*3925insGAGCGGGTCGGGTGTGAGCGGGTCGGGTGTGAGC GGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCCGGGGTGAGCGGG TCGGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCCGG GTGTGAGCGGGGTCCGGTGTGAGCGGGGTCCGGGGTGAGCGGGTCGGGGG TGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAGCGGGTCGGGGGTGAGC GGGTCGGGGGTGAGCGGGTCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGC CCGGGGTGAGCGGGTCGGGGGTGAGCGGGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3744		chr11	TogoVar
SLC22A9_chr11_63364785_63415294	63378230	A A	AGAAAAAA others(307): Show AGAAAAAAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp2 HG01496.hp1 others(8): Show HG01243.hp1 HG01243.hp2 HG01496.hp1 HG02486.hp1 HG02622.hp1 HG02976.hp2 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0025 a0001c0002t0014 a0001c0001t0009 a0001c0001t0025 a0001c0002t0014	a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0009g0064 others(8): Show a0001c0001t0009g0022 a0001c0001t0009g0023 a0001c0001t0009g0064 a0001c0001t0009g0153 a0001c0001t0009g0154 a0001c0001t0009g0155 a0001c0001t0009g0156 a0001c0001t0025g0022 a0001c0001t0025g0023 a0001c0001t0025g0157 a0001c0002t0014g0059	11	346	0.0318	314	c.954 others(331): Show c.954+2474_954+2475insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCTGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCGAAAAAAATTTT	SLC22A9	ENSG00000149742.10	transcript	ENST00000279178.4	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
SLC25A16_chr10_68472998_68532523	68524362	T T	TAAAACTT others(307): Show TAAAACTTCGTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CTTGGCTAACACGGTGAAACCCCGTTTCTACTAAAAATACAAAAAATTAG CCGGGCGTGTTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCACTCCAACCTGGGAGACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0011 a0001c0001t0062g0011	1	312	0.0032	314	c.130 others(331): Show c.130+2883_130+2884insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTGTGTCTCCCAGGTTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCAACACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAAACGGGGTTTCACCGTGTTAGCCAAGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACA GGCGTGAGCCACCGCGCCCGGCCGAGACGAAGTTTT	SLC25A16	ENSG00000122912.15	transcript	ENST00000609923.6	protein_coding	1/8			chr10	TogoVar
SLC28A2_chr15_45247234_45282846	45277714	T T	TGGGAATG others(307): Show TGGGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03209.hp2 NA18975.hp2 HG03209.hp2 NA18975.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0021 a0002c0002t0028 a0001c0003t0021 a0002c0002t0028	a0001c0003t0021g0100 a0002c0002t0028g0011 a0001c0003t0021g0100 a0002c0002t0028g0011	2	304	0.0066	314	c.22 others(325): Show c.2212_*2213insTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCGCCGTTTTAGCCGGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCGGGAATGTTTT	SLC28A2	ENSG00000137860.12	transcript	ENST00000347644.8	protein_coding	18/18	2213	INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC35F1_chr6_117902264_118322671	118304985	C C	CAGTCAAA others(307): Show CAGTCAAAGATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGT GGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTC TCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACG CCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAG CCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCC CAAAGTGCTGGGATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03942.hp2 NA19057.hp2 HG01099.hp2 HG03942.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0059 a0001c0001t0060 a0001c0001t0017 a0001c0001t0059 a0001c0001t0060	a0001c0001t0017g0068 a0001c0001t0059g0096 a0001c0001t0060g0070 a0001c0001t0017g0068 a0001c0001t0059g0096 a0001c0001t0060g0070	3	182	0.0165	314	c.100 others(333): Show c.1003-9029_1003-9028insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG GAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCC GCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCA CCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCC TCGGCCTCCCAAAGTGCTGGGATTAGTCAAAGATCTTT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ATCCAAAT others(307): Show ATCCAAATATCCACTTCTCCATATATACATCCATCCATCTATCCATCCAT CCATCCACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCTTAG ATACATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCT CCATATATCCATCCATCCGTCCACCCATCCATCCATCCATCCATCTATCC ATCCATCCACCCATCTAAATATCCACTTCTTCATATATCCATCCATCCAC CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACAT ATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0285 a0002c0004t0001g0285	1	388	0.0026	314	c.87 others(323): Show c.879_*880insTCCAAATATCCACTTCTCCATATATACATCCATCCA TCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCCAAATATC CACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCACCCATCTA AATATCCACTTCTCCATATATCCATCCATCCGTCCACCCATCCATCCATC CATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCTTCATATA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ATCCATCC others(307): Show ATCCATCCACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCAT ATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACCCATCC ACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCAT CCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATCCGTCC ACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATAT CCACTTCTTCATATATCCATCCATCCACCCATCCATCCATCCATCCACAT ATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01261.hp1 HG01358.hp1 others(1): Show HG00099.hp2 HG01261.hp1 HG01358.hp1 HG01934.hp2	a0002 a0002	a0002c0004 a0002c0009 a0002c0004 a0002c0009	a0002c0004t0001 a0002c0009t0001 a0002c0004t0001 a0002c0009t0001	a0002c0004t0001g0292 a0002c0004t0001g0293 a0002c0004t0001g0316 others(1): Show a0002c0004t0001g0292 a0002c0004t0001g0293 a0002c0004t0001g0316 a0002c0009t0001g0301	4	388	0.0103	314	c.87 others(323): Show c.879_*880insTCCATCCACATATCCACCCATCCACCCATCCAAATA TCCACTTCTCCATATATACATCCATCCATCTATCCATCCATCCATCCACA TATCCACCCATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCA TCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATC CATCCATCCGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCA CCCATCTAAATATCCACTTCTTCATATATCCATCCATCCACCCATCCATC CATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC4A10_chr2_161619416_161990270	161762268	T T	TAAAAACC others(307): Show TAAAAACCTAATTTCACTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGG TGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAAC CCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGC CTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCC GGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGT CCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0005 a0001c0003t0002g0005	1	118	0.0085	314	c.49- others(329): Show c.49-8690_49-8689insCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGG GCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCG CAGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAACCTAATTTCA	SLC4A10	ENSG00000144290.17	transcript	ENST00000446997.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SLC9A9_chr3_143260222_143853468	143476000	T T	TAAAAGAT others(307): Show TAAAAGATTTAATACAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAG ACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	108	0.0093	314	c.131 others(333): Show c.1316-8811_1316-8810insTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCCGACTGTATTAAATCTTTT	SLC9A9	ENSG00000181804.15	transcript	ENST00000316549.11	protein_coding	11/15			chr3	TogoVar
SLCO3A1_chr15_91848708_92170903	91957116	A A	AATATATA others(307): Show AATATATAGTATATAATATATATAATATATATACTATATATTATATATAA TATATAGTATATAATATATATAATATATATACTATATATTATATATAATA TATAGTATATAATATATATAATATATATACTATATATTATATATATAATA TATAGTATATAATATATATAATATATATACTATATATTATATATAATATA TAGTATATAATATATATATAATATATATACTATATATTATATATATAATA TATAGTATATAATATATATATTATATATACTATATATTATATATATAATA TATAGTATATATAAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG02965.hp1 others(1): Show HG02896.hp2 HG02897.hp1 HG02965.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0007 a0001c0001t0012 a0002c0005t0043 a0001c0001t0007 a0001c0001t0012 a0002c0005t0043	a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0012g0007 others(1): Show a0001c0001t0007g0182 a0001c0001t0007g0185 a0001c0001t0012g0007 a0002c0005t0043g0184	4	190	0.0211	314	c.646 others(333): Show c.646+40665_646+40666insGTATATAATATATATAATATATATAC TATATATTATATATAATATATAGTATATAATATATATAATATATATACTA TATATTATATATAATATATAGTATATAATATATATAATATATATACTATA TATTATATATATAATATATAGTATATAATATATATAATATATATACTATA TATTATATATAATATATAGTATATAATATATATATAATATATATACTATA TATTATATATATAATATATAGTATATAATATATATATTATATATACTATA TATTATATATATAATATATAGTATATATAATATATATA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLIT3_chr5_168656740_169306139	168718163	C C	CAAAAGTG others(307): Show CAAAAGTGGAATAGAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGAT TGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03098.hp2 HG01934.hp2 HG03098.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0055 a0001c0004 a0003c0055	a0001c0004t0010 a0003c0055t0010 a0001c0004t0010 a0003c0055t0010	a0001c0004t0010g0131 a0003c0055t0010g0115 a0001c0004t0010g0131 a0003c0055t0010g0115	2	132	0.0152	314	c.248 others(333): Show c.2483+4092_2483+4093insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCTCTATTCCACTTTT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	23/35			chr5	TogoVar
SNTG1_chr8_49906407_50801692	50480261	T T	TCGTCTTT others(307): Show TCGTCTTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTTGC CCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0090 a0001c0001t0004g0090	1	106	0.0094	314	c.364 others(333): Show c.364-22501_364-22500insTTTTTTTTTTGAGACGGAGTCTCGCT CTGTTGCCCAGGCCGGACTGCGGACTGCAATGGCGCAATCTCGGCTCACT GCAAGCTCCGCTTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTC CTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCCGTCTTTTTCTTTTTT	SNTG1	ENSG00000147481.17	transcript	ENST00000642720.2	protein_coding	8/18		INFO_REALIGN_3_PRIME	chr8	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(307): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03654.hp1 NA19001.hp2 others(1): Show HG00423.hp1 HG03654.hp1 NA19001.hp2 NA19080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 others(1): Show a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0053	4	302	0.0133	314	c.12+ others(329): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157829144	T T	TGGCAATT others(307): Show TGGCAATTATATTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAGCTG GGACCACAGGCGCCCGCCACTACGCCCGGCCAATTTTTTGTATTTTCAGC AGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02145.hp1 NA21309.hp1 HG02055.hp2 HG02145.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0250 a0001c0003t0003g0254 a0001c0003t0003g0256 a0001c0001t0003g0250 a0001c0003t0003g0254 a0001c0003t0003g0256	3	302	0.0099	314	c.12+ others(329): Show c.12+5714_12+5715insTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGCAG CTGGGACCACAGGCGCCCGCCACTACGCCCGGCCAATTTTTTGTATTTTC AGCAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCGGCCGGCAATTATATTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179318194	C C	CAAAAAAA others(307): Show CAAAAAAAGCCCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAGA TTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03225.hp2 HG02145.hp1 HG03225.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0036 a0005c0010t0035 a0001c0001t0036 a0005c0010t0035	a0001c0001t0036g0360 a0005c0010t0035g0366 a0001c0001t0036g0360 a0005c0010t0035g0366	2	382	0.0052	314	c.119 others(331): Show c.119-5229_119-5228insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGA GCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAGCCCCCA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA18906.hp2 NA18975.hp1 others(2): Show HG02976.hp2 NA18906.hp2 NA18975.hp1 NA19075.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0001t0001 a0001c0001t0004 a0001c0001t0018	a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 others(2): Show a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0004g0037 a0001c0001t0018g0141	5	380	0.0132	314	c.-13 others(331): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCT CAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOCS5_chr2_46694295_46768129	46701811	T T	TTTTTTTT others(307): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCTCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAGTAGCTG GGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	380	0.0026	314	c.-13 others(331): Show c.-13+2365_-13+2366insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCTCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCT CAGCCTCCCAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTT	SOCS5	ENSG00000171150.9	transcript	ENST00000394861.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
SORCS3_chr10_104636290_105270242	104678170	T T	TAAGAATA others(307): Show TAAGAATACACGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCTT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCAAGATTGTG CCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	134	0.0075	314	c.627 others(333): Show c.627+36226_627+36227insGGCTGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGA TCGAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTG AGCCAAGATTGTGCCACTGCAATCCGGCCTGGGCTAAAGAGCGGGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAATACAC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696219	C C	CATATAAT others(307): Show CATATAATATATAATATATATCATATACACATATATAATATATATCATAT ACACATATATAATATATATCATATACACATATGATATATGATATATATCA TATACACATATGATATATGATATATATCATATACACATATGATATATGAT ATATATCATATACACATATGATATATGATATATATCATATACACATATGA TATATGATATATATCATATACACATATGATATATGATATATATCATATAC ACATATGATATATGATATATATCATATACACATATGATATATGATATATA TCATATACACATATG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	134	0.0075	314	c.627 others(333): Show c.627+54270_627+54271insATATATAATATATATCATATACACAT ATATAATATATATCATATACACATATATAATATATATCATATACACATAT GATATATGATATATATCATATACACATATGATATATGATATATATCATAT ACACATATGATATATGATATATATCATATACACATATGATATATGATATA TATCATATACACATATGATATATGATATATATCATATACACATATGATAT ATGATATATATCATATACACATATGATATATGATATATATCATATACACA TATGATATATGATATATATCATATACACATATGATATA	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	105095700	T T	TAAAGAGA others(307): Show TAAAGAGATATGGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0033 a0001c0001t0003g0033	1	134	0.0075	314	c.109 others(333): Show c.1093+5875_1093+5876insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAGAGATATGGTC	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	6/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SOS1_chr2_38976549_39126051	39112172	C C	CCCTATCT others(307): Show CCCTATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAG CTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGC TGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTA GTAGAGACGAGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGAC CTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTG AGCCACCGCGCCCGG	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02622.hp1 HG02809.hp2 HG02615.hp2 HG02622.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0187 a0001c0001t0012g0188 a0001c0001t0012g0186 a0001c0001t0012g0187 a0001c0001t0012g0188	3	246	0.0122	314	c.87+ others(329): Show c.87+8163_87+8164insCCGGGCGCGGTGGCTCACGCCTGTAATCCC AGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGA CCATCCCGGCTAAAACGGTGAAACCTCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGATAGG	SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22			chr2	TogoVar
SPAG16_chr2_213279464_214415501	213833473	A A	ATAATAAT others(307): Show ATAATAATATATATATTATATATATATTATTATATATATTATATATATAA TAATATATATATTATATATATATTATTATATATATTATATATATAATAAT ATATATATTATATATATATTATATATAATATATAATATATATATTATATA TATAATATATAATATATATATTATATATATAATATATAGTATATATATTA TATATATTATATAATATATATATTATATTATATTATATAATATATATATT ATATATATTATATATATTATATATATTATATATATTATATAATATATATA TTATATATAATATAT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0075	1	86	0.0116	314	c.107 others(335): Show c.1071-29012_1071-29011insTAATAATATATATATTATATATAT ATTATTATATATATTATATATATAATAATATATATATTATATATATATTA TTATATATATTATATATATAATAATATATATATTATATATATATTATATA TAATATATAATATATATATTATATATATAATATATAATATATATATTATA TATATAATATATAGTATATATATTATATATATTATATAATATATATATTA TATTATATTATATAATATATATATTATATATATTATATATATTATATATA TTATATATATTATATAATATATATATTATATATAATATAT	SPAG16	ENSG00000144451.20	transcript	ENST00000331683.10	protein_coding	10/15			chr2	TogoVar
SPATA13_chr13_24155720_24312069	24189969	T T	TATATTAC others(307): Show TATATTACGTAATATATTATATATAATTATATAATATATTACGTAATATA TTATATAATTATATAATATATTACGTAATATATTATATAATTATATAATA TATTACGTAATATATTATATATAATTATATAATATATTACGTAATATATT ATATATAATTATATAATATATATTATATAACATAATGATATATAATATAT ATCATTATATAACATAATGATATATAATATATATCATTATATAACATAAT GATATATAATATATATCATTATATAACATAATGATATATAATATATATCA TTATATAACATAATG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0033 a0001c0004t0033	a0001c0004t0033g0231 a0001c0004t0033g0231	1	356	0.0028	314	c.-11 others(335): Show c.-112+29041_-112+29042insTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATAATTATATAATATATTACGTAAT ATATTATATAATTATATAATATATTACGTAATATATTATATATAATTATA TAATATATTACGTAATATATTATATATAATTATATAATATATATTATATA ACATAATGATATATAATATATATCATTATATAACATAATGATATATAATA TATATCATTATATAACATAATGATATATAATATATATCATTATATAACAT AATGATATATAATATATATCATTATATAACATAATGATAT	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPICE1_chr3_113437718_113520156	113484687	T T	TTTGAGTG others(307): Show TTTGAGTGAGTTTCTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCT CGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0021 a0002c0003t0021	a0002c0003t0021g0011 a0002c0003t0021g0011	1	364	0.0028	314	c.611 others(331): Show c.611+4257_611+4258insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATC GAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAGAAACTCACTCAA	SPICE1	ENSG00000163611.11	transcript	ENST00000295872.8	protein_coding	7/17			chr3	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(307): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCT CTCACCCCCCGGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCCCC ATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	356	0.0028	314	c.645 others(331): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCCTGGC CCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCCTGGCCCATCTTCCA TCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCC ACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGAT CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852377	C C	CCCATATT others(307): Show CCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCCATCTT CCATCCTCCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCC TCTCACCCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC GGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	356	0.0028	314	c.645 others(331): Show c.645+1720_645+1721insTATTCCATGGCCCATCTTCCATCCTCCC CCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA GATCCCATGGCCCATCTTCCATCCTCCCCCCCACCCCCCAGATCCCCTGG CCCATCTTCCATCCTCCCTCTCACCCCCCATATTCCATGGCCCATCTTCC ATCCTCCCCCCACCCCCCGGATCCCATGGCCCATCTTCCATCCTCCCCCC ACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGAT CCCATGGCCCATCTTCCATCCTCTCCCCACCCACCA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(307): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0083 a0003c0003t0001g0083	1	260	0.0039	314	c.138 others(333): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar

Search by Variant

Search

Search Results