Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MPPED1_chr22_43407014_43512848	43499780	A A	AGGTGGTG others(179): Show AGGTGGTGGTGGTGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTG GTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGA GGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGG TGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02738.hp2 HG00738.hp1 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0013 a0001c0002t0003 a0001c0001t0013 a0001c0002t0003	a0001c0001t0013g0117 a0001c0002t0003g0078 a0001c0001t0013g0117 a0001c0002t0003g0078	2	250	0.0080	186	c.748 others(203): Show c.748+1458_748+1459insGTGGTGATGGTGGAGGTGGTGGTGGTGG TGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTG GTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGGTGGTGGTGATGG AGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500275	T T	TGGTGGTG others(179): Show TGGTGGTGGTGATGGTGGTGGTGGTGATGGGGGTGGTGGTGGTGATGGTG ATGGAGGTGGCAGTGATGATGGTGGTGATGGTGATGGAGGTGGCGGTGGT GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGTGGTGGTGG AGGTGGTGGTGGTGATGGTGATGGAGGTGGTGATGGG	intron_variant intron_variant	MODIFIER	HG02165.hp2 NA18612.hp1 NA19002.hp2 HG02165.hp2 NA18612.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0178 a0001c0005t0001g0051 a0001c0005t0001g0052 a0001c0001t0001g0178 a0001c0005t0001g0051 a0001c0005t0001g0052	3	250	0.0120	186	c.748 others(203): Show c.748+1927_748+1928insTGGTGGTGATGGTGGTGGTGGTGATGGG GGTGGTGGTGGTGATGGTGATGGAGGTGGCAGTGATGATGGTGGTGATGG TGATGGAGGTGGCGGTGGTGATGGGGGTGGTGGTGGTGATGGTGATGGAG GTGGTGATGGTGGTGGTGGAGGTGGTGGTGGTGATGGTGATGGAGGTGGT GATGGGGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH1_chr8_144143016_144266926	144203083	G G	GGCGGGGG others(179): Show GGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGCCCG CTGTCTGTGGAGGGGGCGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGG CGGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGAAGCGCC CGCTGTCTGTGGAGGGGGGGGGGAGCGCCCGCTGTCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0001 a0002c0004t0001g0001	1	140	0.0071	186	c.114 others(205): Show c.1141+2543_1141+2544insCGGGGGGGGGGAGCGCCCGCTGTCTG TGGAGGGGGGGGGGAGCGCCCGCTGTCTGTGGAGGGGGCGGGGGGGGGGA GCGCCCGCTGTCTGTGGAGGGGCGGGGGGGGGAAGCGCCCGCTGTCTGTG GAGGGGCGGGGGGGGAAGCGCCCGCTGTCTGTGGAGGGGGGGGGGAGCGC CCGCTGTCTG	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MS4A4E_chr11_60195270_60248137	60206512	T T	TATGTATA others(179): Show TATGTATATATATATGTATATATATGTATATATATATATGTATATATATA TGTATATATATATGTATATATATATGTATATATATATGTATATATATATG TATATATATATGTATATATATGTGTATATATATGTATATATATATATGTA TATATATGTATATATATATATGTATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0071 a0002c0003t0001g0071	1	410	0.0024	186	c.484 others(201): Show c.484-693_484-692insGTATATATATATATACATATATATATATAC ATATATATACATATATATATATACATATATATACACATATATATACATAT ATATATACATATATATATACATATATATATACATATATATATACATATAT ATATACATATATATATACATATATATATATACATATATATACATATATAT ATACAT	MS4A4E	ENSG00000214787.11	transcript	ENST00000651255.1	protein_coding	6/8			chr11	TogoVar
MSLN_chr16_755734_773862	767711	G G	GGCGTGGA others(179): Show GGCGTGGAGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGA GGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCG CGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	388	0.0026	186	c.159 others(203): Show c.1596+250_1596+251insGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGC GTGGGGGGCGTGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGT GGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGGGGGCG CGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCGGC others(179): Show GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCC CACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCG GCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG03688.hp1 HG02735.hp1 HG03688.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0275 a0003c0004t0003g0276 a0003c0004t0003g0275 a0003c0004t0003g0276	2	388	0.0052	186	c.43 others(195): Show c.431_*432insCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCC CCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCC GGCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769176	G G	GCCCCGGC others(179): Show GCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGC CCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCGGCCCCGGCCC CACCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCA GCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0002 a0013c0032t0002	a0013c0032t0002g0332 a0013c0032t0002g0332	1	388	0.0026	186	c.44 others(195): Show c.443_*444insCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCAG CCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCAGCCCCAGCCCCAGCC CCGGCCCCGGCCCCACCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCC GGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		315		chr16	TogoVar
MSLN_chr16_755734_773862	769205	A A	ACCCCCGG others(179): Show ACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCACCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCGGCC CCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCC GGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0273 a0003c0004t0003g0273	1	388	0.0026	186	c.47 others(195): Show c.472_*473insCCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCACCCCCAGCCCCGGC CCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCC CGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		344		chr16	TogoVar
MSLN_chr16_755734_773862	769224	G G	GCCCCAGC others(179): Show GCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGC CCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCAGCCCCGGCCC CGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCG GCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18945.hp2 NA19057.hp2 NA18945.hp2 NA19057.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0017 a0002c0002t0002g0017	2	388	0.0052	186	c.49 others(195): Show c.491_*492insCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAG CCCCAGCCCCGGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCC CCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCC GGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		363		chr16	TogoVar
MSLN_chr16_755734_773862	769259	A A	AGCCCCAG others(179): Show AGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGG CCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCC CCGGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCC ACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0324 a0002c0002t0002g0324	1	388	0.0026	186	c.52 others(195): Show c.526_*527insGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCG GCCCCGGCCCCGGCCCCAGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAGCCCCAGCCC CGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		398		chr16	TogoVar
MTMR12_chr5_32222007_32317939	32228595	T T	TATATATA others(179): Show TATATATATCATATATATGTGATATATATATATCATATATATGTGATATA TATGTATCATATATATGTGATATATATATATCATATATGTGATATATATA TATCATATATATGTGATATATATATATCATATATATGTGATATATATATA TCATATATATGTGATATATATATATCATATATATGTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0043 a0001c0001t0043	a0001c0001t0043g0010 a0001c0001t0043g0010	1	364	0.0028	186	c.11 others(197): Show c.1182_*1183insCACATATATATGATATATATATATCACATATATA TGATATATATATATCACATATATATGATATATATATATCACATATATATG ATATATATATATCACATATATGATATATATATATCACATATATATGATAC ATATATATCACATATATATGATATATATATATCACATATATATGATATAT AT	MTMR12	ENSG00000150712.11	transcript	ENST00000382142.8	protein_coding	16/16	1182		chr5	TogoVar
MTTP_chr4_99569824_99628997	99588843	A A	ACATATAT others(179): Show ACATATATATGTTCACATATATACTCATATATATATGTTCACATATATAT TCATATATATGTTCATATATATATTCATATATATGTTCACATATATATTC ATATATATATTCATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0014 a0014c0019t0014	a0014c0019t0014g0319 a0014c0019t0014g0319	1	364	0.0028	186	c.394 others(201): Show c.394-791_394-790insGTTCACATATATACTCATATATATATGTTC ACATATATATTCATATATATGTTCATATATATATTCATATATATGTTCAC ATATATATTCATATATATATTCATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195767737	C C	CACCACCA others(179): Show CACCACCATCACCACCATCACCACCACCATCACCACCACCATCACCATCA CCACCATCACTGCCACCCCCAACACTACCACCATCGCCACCACCACCATC ATCACCATTGCCACCACCATCACCACCATCACCACCACCATCACCACCAC CATCACCATCACCACCATCACTGCCACCCCCAACACT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0062 a0062	a0062c0200 a0062c0200	a0062c0200t0008 a0062c0200t0008	a0062c0200t0008g0222 a0062c0200t0008g0222	1	249	0.0040	186	c.135 others(205): Show c.13530-987_13530-986insAGTGTTGGGGGTGGCAGTGATGGTGG TGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGGTGATGGTGGTG GCAATGGTGATGATGGTGGTGGTGGCGATGGTGGTAGTGTTGGGGGTGGC AGTGATGGTGGTGATGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGG TGATGGTGGT	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	7/24			chr3	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATAAAAA others(179): Show AATAAAAATTTATATTTAGATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0074 a0001c0001t0010g0074	1	350	0.0029	186	c.-25 others(197): Show c.-2564_-2563insATAAAAATTTATATTTAGATATCATAAATATATA AAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATAT CATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT AT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
MYNN_chr3_169768396_169794716	169770930	A A	AATAAAAA others(179): Show AATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTAT ATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAA ATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCAT AAATATATAAAAATTTATATTTATATATCATAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp2 NA20129.hp2 HG03239.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0005 a0003c0003t0001g0063 a0001c0001t0001g0005 a0003c0003t0001g0063	2	350	0.0057	186	c.-25 others(197): Show c.-2564_-2563insATAAAAATTTATATTTATATATCATAAATATATA AAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTATATAT CATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT AT	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2465		chr3	TogoVar
MYNN_chr3_169768396_169794716	169771186	A A	TTTATATT others(179): Show TTTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATA AATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATAT TTATATATCATAAATATATAAAAATTTATATTTATATATCATAAATATAT AAAAATTTATATTTATATATCATAAATATATAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG03017.hp2 HG03041.hp1 others(7): Show HG02970.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp2 HG03704.hp1 NA18747.hp2 NA18946.hp1 NA19030.hp2 NA19072.hp1 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0004c0005t0001 a0001c0001t0001 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 others(4): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0071 a0001c0001t0001g0077 a0004c0005t0001g0094	10	350	0.0286	186	c.-23 others(197): Show c.-2309_-2308insTTTATATTTATATATCATAAATATATAAAAATTT ATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAAAT ATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTATATTTA TATATCATAAATATATAAAAATTTATATTTATATATCATAAATATATAAA AA	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2210		chr3	TogoVar
MYO1F_chr19_8515778_8582442	8542777	T T	TTATTTTT others(179): Show TTATTTTTTTATTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA CTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0121 a0001c0028t0001g0121	1	342	0.0029	186	c.152 others(203): Show c.1525-787_1525-786insCAAAAAATTAGCCGGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAATA AAAAAATA	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543898	T T	TGGTGCTG others(179): Show TGGTGCTGGTGGTGGTGCTGGTGGTGGCGGTGGCGGTGGCGGTGGCGGTG GCGGTGGCGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTGGTGGTGG TGCTGGTGGTGGCGGTGGCGGTGGCGGTGGCGGTGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	342	0.0029	186	c.152 others(203): Show c.1524+398_1524+399insGCCACCGCCACCGCCACCGCCACCGCCA CCACCAGCACCACCACCAGCACCAGCACCACCACCACCACCACCACCAGC ACCACCAGCACCACCACCACCACCACCACCACCACCACCACCACCAGCAC CGCCACCGCCACCGCCACCGCCACCGCCACCGCCACCACCAGCACCACCA CCAGCACC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYT1L_chr2_1784113_2336275	2295565	C C	CAGAGAGA others(179): Show CAGAGAGAGAGAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGA GAGATAGAGAGACAGACAGACAGAGAGAGAGAGAGACAGACAGACAGAGA GAGAGAGACAGACAGACAGAGAGAGACAGACAGAGAGAGAGAGAGAGACA GACAGACAGAGAGAGAGAGAGAGAGACAGACAGACAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	104	0.0096	186	c.-52 others(207): Show c.-520-11063_-520-11062insCTGTCTGTCTGTCTCTCTCTCTCT CTCTCTGTCTGTCTGTCTCTCTCTCTCTCTCTGTCTGTCTCTCTCTGTCT GTCTGTCTCTCTCTCTCTGTCTGTCTGTCTCTCTCTCTCTCTGTCTGTCT GTCTCTCTATCTCTCTCTCTCTGTCTGTCTCTCTCTGTCTGTCTGTCTCT CTCTCTCTCTCT	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	1/24			chr2	TogoVar
NAB1_chr2_190644083_190697766	190690012	C C	CTATACAT others(179): Show CTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTAT AGTATACATATATGTATAGTATACATATATGTATAGTATACATATATGTA TAGTATACATATATGTATACTATACGTATAGTATACATATATGTATACTA TACGTATAGTATACATATATGTATACTATACGTATAG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0145 a0001c0001t0006g0145	1	374	0.0027	186	c.137 others(203): Show c.1376-217_1376-216insGTATACATATATGTATAGTATACATATA TGTATAGTATACATATATGTATAGTATACATATATGTATAGTATACATAT ATGTATAGTATACATATATGTATACTATACGTATAGTATACATATATGTA TACTATACGTATAGTATACATATATGTATACTATACGTATAGTATACATA TATGTATA	NAB1	ENSG00000138386.17	transcript	ENST00000337386.10	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
NEGR1_chr1_71390943_72287539	71928131	C C	CATATGTA others(179): Show CATATGTATATACACATATGTATATATGTATATATACACACATATGTATA TACACATATGTATATATGTATATATACACACATATGTATATATACACATA TGTATATATGTATATATACACACATATGTATATACACATATGTATATATG TATATATACACACATATGTGTATATACACATATGTAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03195.hp2 NA19240.hp2 HG02922.hp1 HG03195.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0003 a0001c0001t0002 a0001c0001t0005 a0001c0002t0003	a0001c0001t0002g0043 a0001c0001t0005g0063 a0001c0002t0003g0044 a0001c0001t0002g0043 a0001c0001t0005g0063 a0001c0002t0003g0044	3	64	0.0469	186	c.409 others(203): Show c.409+6947_409+6948insATACATATGTGTATATACACATATGTGT GTATATATACATATATACATATGTGTATATACATATGTGTGTATATATAC ATATATACATATGTGTATATATACATATGTGTGTATATATACATATATAC ATATGTGTATATACATATGTGTGTATATATACATATATACATATGTGTAT ATACATAT	NEGR1	ENSG00000172260.15	transcript	ENST00000357731.10	protein_coding	2/6			chr1	TogoVar
NFATC1_chr18_79390930_79534323	79400824	A A	ACCCCTCC others(179): Show ACCCCTCCCCCGACCTCCCCCCCGCGCCCCGACCTCCTCCCTGTTCCCTC CCCCGACCTCCCCCTTCCCCCCCCGACCTCCCCCCCGCGCCCCGACCTAC ACCCCGCCCCCCTACCTCCCCCCTCCCCGTGACCTGCCCCCCAGAACTCC TCCCCATCCCGCCCCCCGACCTCCCCCCGCCCCCCTC	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0006 a0006	a0006c0040 a0006c0040	a0006c0040t0002 a0006c0040t0002	a0006c0040t0002g0060 a0006c0040t0002g0060	1	322	0.0031	186	c.127 others(203): Show c.127+4477_127+4478insTCCCCCGACCTCCCCCCCGCGCCCCGAC CTCCTCCCTGTTCCCTCCCCCGACCTCCCCCTTCCCCCCCCGACCTCCCC CCCGCGCCCCGACCTACACCCCGCCCCCCTACCTCCCCCCTCCCCGTGAC CTGCCCCCCAGAACTCCTCCCCATCCCGCCCCCCGACCTCCCCCCGCCCC CCTCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995339	T T	TGCGTACA others(179): Show TGCGTACAGCATGTATACTGTATATATGTACAGTATGTATACTGTATATA TGTACAGTATGTATACTGTATACAGTATGTATACTGTATACAGCATGTAT ACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATATATGTA CAGTATGTATACCGTATACAGTATGTATACCGTATAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0319 a0001c0001t0007g0319	1	362	0.0028	186	c.-75 others(205): Show c.-75+17728_-75+17729insGTATACGGTATACATACTGTATACGG TATACATACTGTACATATATACAGTATACATGCTGTATACAGTATACATG CTGTATACAGTATACATGCTGTATACAGTATACATACTGTATACAGTATA CATACTGTACATATATACAGTATACATACTGTACATATATACAGTATACA TGCTGTACGC	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NHEJ1_chr2_219064357_219165815	219159566	T T	TATATATA others(179): Show TATATATATATGCATATATATATGCATATATATATATGCATATATATGCA TATATATATGCATATATATGCATATATATGCATATATATATATATGCATA TATATATGCATATATATATATGCATATATATATGCATATATATGCATATA TATGCATATATATATGCATATATATGCATATATATGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0342 a0001c0001t0013g0342	1	350	0.0029	186	c.-1+ others(201): Show c.-1+1153_-1+1154insGCATATATATGCATATATATGCATATATAT ATGCATATATATGCATATATATGCATATATATATGCATATATATATATGC ATATATATATGCATATATATATATATGCATATATATGCATATATATGCAT ATATATATGCATATATATGCATATATATATATGCATATATATATGCATAT ATATAT	NHEJ1	ENSG00000187736.14	transcript	ENST00000356853.10	protein_coding	1/7			chr2	TogoVar
NLRP12_chr19_53788741_53829314	53819624	T T	TATATGCG others(179): Show TATATGCGTATATATGTATGTATACGTATATATATGCGTATATATGTATG TATACGTATATATACACACACGTATATATATGTATGTATACGTATATATA TATACACACACGTATATATATGTATGTATACGTATATATATATACACACA CGTATATATATGTATGTATACGTATATATATATACAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0383 a0001c0002t0016g0383	1	416	0.0024	186	c.289 others(203): Show c.289+4261_289+4262insGTGTATATATATATACGTATACATACAT ATATATACGTGTGTGTATATATATATACGTATACATACATATATATACGT GTGTGTATATATATATACGTATACATACATATATATACGTGTGTGTATAT ATACGTATACATACATATATACGCATATATATACGTATACATACATATAT ACGCATAT	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP12_chr19_53788741_53829314	53819629	G G	GTATATAT others(179): Show GTATATATGTATGTATACGTATATATATGCGTATATATGTATGTATACGT ATATATACACACACGTATATATATGTATGTATACGTATATATATATACAC ACACGTATATATATGTATGTATACGTATATATATATACACACACGTATAT ATATGTATGTATACGTATATATATATACACACACGTA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01517.hp2 HG02074.hp1 others(7): Show HG00438.hp1 HG01517.hp2 HG02074.hp1 HG03704.hp1 NA18939.hp2 NA18980.hp1 NA19007.hp1 NA19080.hp2 NA19087.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0343 others(7): Show a0001c0001t0001g0330 a0001c0001t0001g0333 a0001c0001t0001g0343 a0001c0001t0001g0361 a0001c0002t0001g0248 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0340 a0001c0002t0001g0345 a0001c0002t0001g0370	10	416	0.0240	186	c.289 others(203): Show c.289+4256_289+4257insTACGTGTGTGTATATATATATACGTATA CATACATATATATACGTGTGTGTATATATATATACGTATACATACATATA TATACGTGTGTGTATATATATATACGTATACATACATATATATACGTGTG TGTATATATACGTATACATACATATATACGCATATATATACGTATACATA CATATATA	NLRP12	ENSG00000142405.23	transcript	ENST00000324134.11	protein_coding	1/9			chr19	TogoVar
NLRP13_chr19_55890945_55937336	55930880	A A	ATATATAT others(179): Show ATATATATATATATATATATATATATATATATATATATACACACACACGT ATATATATACATACACATATATATATACATATATATACATACACATATAT ATACATATATATACATACACATATATATACATATATATACATACACATAT ATATATACATACACATATATATATACATATATATGTG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0412 a0001c0014t0001g0412	1	440	0.0023	186	c.319 others(203): Show c.319+1112_319+1113insCACATATATATGTATATATATATGTGTA TGTATATATATATGTGTATGTATATATATGTATATATATGTGTATGTATA TATATGTATATATATGTGTATGTATATATATGTATATATATATGTGTATG TATATATATACGTGTGTGTGTATATATATATATATATATATATATATATA TATATATA	NLRP13	ENSG00000173572.12	transcript	ENST00000342929.4	protein_coding	1/10			chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998672	G G	GTGTGTGT others(179): Show GTGTGTGTGTGTGTGTATATATATATATATGTGTGTATATATATATATAT ATGTGTGTATATATATATATGTGTGTGTATATATATATGTGTGTATATAT ATATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTAT ATATATATGTGTGTATATATATATATGTGTGTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG06807.hp2 HG02622.hp2 HG06807.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0013 a0001c0001 a0009c0013	a0001c0001t0001 a0009c0013t0001 a0001c0001t0001 a0009c0013t0001	a0001c0001t0001g0353 a0009c0013t0001g0352 a0001c0001t0001g0353 a0009c0013t0001g0352	2	396	0.0051	186	c.-10 others(197): Show c.-1054_-1053insTGTGTGTGTGTGTGTATATATATATATATGTGTG TATATATATATATATATGTGTGTATATATATATATGTGTGTGTATATATA TATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATATA TATATATGTGTGTATATATATATGTGTGTATATATATATATGTGTGTATA TA	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		1053		chr19	TogoVar
NLRP5_chr19_55994726_56066810	55998728	A A	ATATGTGT others(179): Show ATATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATAT ATATATATGTGTGTATATATATATATGTGTGTATATATATATGTGTGTAT ATATATATATATGTGTATATATATGTGTATATATATATGTGTATATATAT ATGTGTGTATATATATATATATATATATATATATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0014 a0014	a0014c0131 a0014c0131	a0014c0131t0001 a0014c0131t0001	a0014c0131t0001g0315 a0014c0131t0001g0315	1	396	0.0025	186	c.-99 others(195): Show c.-998_-997insTATGTGTGTATATATATATATGTGTGTATATATATA TATGTGTGTATATATATATATGTGTGTATATATATATATGTGTGTATATA TATATGTGTGTATATATATATATATGTGTATATATATGTGTATATATATA TGTGTATATATATATGTGTGTATATATATATATATATATATATATATATG	NLRP5	ENSG00000171487.16	transcript	ENST00000390649.8	protein_coding		997		chr19	TogoVar
NLRP8_chr19_55942832_55993629	55993508	C C	CTCCCCCC others(179): Show CTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCTCTCCCC CCTCTCTCCCCCCTCTCTCCCCCCTCCCCCTCTCCCCCTCTCCCCCCTCT CCCCCCTCTCCCCCCTCTCCCCCTCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0012 a0012	a0012c0016 a0012c0016	a0012c0016t0012 a0012c0016t0012	a0012c0016t0012g0250 a0012c0016t0012g0250	1	350	0.0029	186	c.55 others(197): Show c.5595_*5596insTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCTCT CCCCCCTCTCTCCCCCCTCTCTCCCCCCTCTCTCCCCCCTCCCCCTCTCC CCCTCTCCCCCCTCTCCCCCCTCTCCCCCCTCTCCCCCTCCCTCCCCCTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4880		chr19	TogoVar
NMU_chr4_55590231_55641298	55604017	G G	GTATATAT others(179): Show GTATATATACGTATATATACACGTGTATATATACACATATATATATATGT ATATATACACGTGTATATATACACATATATATGTGTATATATACACGTGT ATATATACACATATATATGTGTATATATACACGTGTATATATACACATAT ATATATGTATATATACACGTGTATATATACACACGTA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0266 a0001c0002t0001g0266	1	412	0.0024	186	c.435 others(203): Show c.435+1257_435+1258insTACGTGTGTATATATACACGTGTATATA TACATATATATATGTGTATATATACACGTGTATATATACACATATATATG TGTATATATACACGTGTATATATACACATATATATGTGTATATATACACG TGTATATATACATATATATATATGTGTATATATACACGTGTATATATACG TATATATA	NMU	ENSG00000109255.11	transcript	ENST00000264218.7	protein_coding	7/9			chr4	TogoVar
NTS_chr12_85869295_85887992	85879483	A A	ATGTATAT others(179): Show ATGTATATTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATAT AAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGTATA TTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATATAAAATAT ATTTTTTGTATATTTTATGTATATAAAATATATTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03516.hp2 HG03579.hp2 HG02257.hp2 HG03516.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	3	420	0.0071	186	c.360 others(203): Show c.360+1025_360+1026insAAAATATATTTTTTGTATATTTTATGTA TATAAAATATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGT ATATTTTATGTATATAAAATATATTTTTTGTATATTTTATGTATATAAAA TATATTTTTTGTATATTTTATGTATATAAAATATATTTTTTGTATATTTT ATGTATAT	NTS	ENSG00000133636.11	transcript	ENST00000256010.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
ODAD3_chr19_11415605_11440121	11425657	A A	ATGCATAC others(179): Show ATGCATACATGCATATACGTATATATGCATACATGCATATACGTATATAT GCATACATGCATATACGTATATATGCATACATGCATATACGTATATATGC ATACATGCATATACGTATATATGCATACATGCATATACGTATATATGCAT ACATGCATATACGTATATATGCATACATGCATATACG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	398	0.0025	186	c.963 others(201): Show c.963+486_963+487insCGTATATGCATGTATGCATATATACGTATA TGCATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATG CATGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCA TGTATGCATATATACGTATATGCATGTATGCATATATACGTATATGCATG TATGCA	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
OR10R2_chr1_158467220_158485936	158473767	C C	CCTTCTTC others(179): Show CCTTCTTCCTTCCTTCCTTCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTG	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02300.hp1 HG02647.hp1 others(6): Show HG02165.hp1 HG02300.hp1 HG02647.hp1 HG03017.hp2 HG03471.hp1 NA19000.hp2 NA19011.hp2 NA19084.hp1 NA19085.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0074 a0003c0003t0001g0015 a0003c0003t0001g0075 others(1): Show a0001c0001t0001g0074 a0003c0003t0001g0015 a0003c0003t0001g0075 a0003c0003t0001g0079	9	446	0.0202	186	c.27+ others(201): Show c.27+1419_27+1420insTTCCTTCCTTCCTTCCTCCCTCCTTCCCTC TTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTT CCTCCCTCCCTCCTTCCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTT CCCTCTTTCCCTCTCTGCTTCCTCCCTCCCTCCTTCCCTCTTTCCCTCTC TGCTTC	OR10R2	ENSG00000198965.5	transcript	ENST00000641067.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR1F1_chr16_3183204_3211556	3197841	A A	AGGAGAGG others(179): Show AGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGA AGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03516.hp2 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	2	328	0.0061	186	c.-12 others(203): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR4K1_chr14_19925917_19941757	19937355	T T	TATAATAT others(179): Show TATAATATGTATAATATATATAATATATATAATATATATTATATATTATA TATATTATATATATTATATATTATATATATTATATATATAATATATATAA TATATATAATATATAATATATATAATATATATAATATATATATTATATAT ATATTATATATATAATATATATATAATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0014 a0005c0005t0001g0014	1	252	0.0040	186	c.75 others(195): Show c.753_*754insATAATATGTATAATATATATAATATATATAATATAT ATTATATATTATATATATTATATATATTATATATTATATATATTATATAT ATAATATATATAATATATATAATATATAATATATATAATATATATAATAT ATATATTATATATATATTATATATATAATATATATATAATATATATATAC	OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding		599		chr14	TogoVar
OR52N2_chr11_5803924_5826483	5812330	T T	TAAAAATA others(179): Show TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03453.hp2 HG03098.hp2 HG03453.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0006 a0004c0005t0006	a0004c0005t0006g0028 a0004c0005t0006g0028	2	402	0.0050	186	c.-55 others(203): Show c.-55+3281_-55+3282insTACAAAAAATTAGCCGGGCGTAGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA AAAAAAAA	OR52N2	ENSG00000180988.3	transcript	ENST00000317037.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr11	TogoVar
P2RY8_chrX_1457581_1542185	1468892	T T	TCTCCCCT others(179): Show TCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCC CCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCC TCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTC CCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	114	0.0088	186	c.-24 others(203): Show c.-24-2311_-24-2310insGGAGAGGGAAGGGGAGGGGAGAGGGGAG AGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAG GGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGG AAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGA GAGGGGAG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1468904	T T	TCCCCTCT others(179): Show TCCCCTCTCCCCTCTCCCCTCTCTCCTCTCCCCTCTCCCCTCCCCTTCCC TCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTC TCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCTCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG02004.hp1 HG02165.hp1 others(3): Show HG01258.hp1 HG02004.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp2 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0063 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0055 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0082 a0001c0001t0001g0106	6	114	0.0526	186	c.-24 others(203): Show c.-24-2323_-24-2322insGGAGGGGAGAGGGGAGAGGGAAGGGGAG GGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGG GAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGA GAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGAGAGAGGGGAGAGGG GAGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
P2RY8_chrX_1457581_1542185	1469091	T T	TCCCCTCC others(179): Show TCCCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCCTCTC CCCTCCCCTTCCCTCTCCCCTCTCCCCTCCCTTCCCTCTCCCTCACCCCT CCCCTTCCCTCTCCCCTCTCCCCTCCCCTTCCCTCTCCCTCTCCCCTCCC CTTCCTTCTCCTTCCCTCTCCCCTCTCCTTCCTCTCC	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0009 a0002c0002t0009	a0002c0002t0009g0006 a0002c0002t0009g0006	1	114	0.0088	186	c.-24 others(203): Show c.-24-2510_-24-2509insGGAGAGGAAGGAGAGGGGAGAGGGAAGG AGAAGGAAGGGGAGGGGAGAGGGAGAGGGAAGGGGAGGGGAGAGGGGAGA GGGAAGGGGAGGGGTGAGGGAGAGGGAAGGGAGGGGAGAGGGGAGAGGGA AGGGGAGGGGAGAGGGGAGAGGGAAGGGGAGGGGAGAGGGGAGAGGGAAG GGGAGGGG	P2RY8	ENSG00000182162.11	transcript	ENST00000381297.10	protein_coding	1/1			chrX	TogoVar
PALD1_chr10_70473767_70573450	70554954	C C	CCCCTCCC others(179): Show CCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCCCCCTTC CTCCCCTCCCCCCTCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCTCCTCCCCT TCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0144 a0002c0002t0003g0144	1	308	0.0033	186	c.226 others(205): Show c.2262+7511_2262+7512insTCCCCTCCCCCTCCTCCCCTTCCTCC CCTCCCCCTCCTCCCCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCC CTTCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3B_chr2_204540475_205625162	204648652	A A	AATATATT others(179): Show AATATATTTATAATATATATCATATAAATAATATATATTTATAATATATA TCATATAAATAATATATATTTATAATATATATCATATAAATAATATATAT TTATAATATATATCATATAAATAATATATATTTATAATATATATCATATA AATAATATATATTTATAATATATATCATATAAATAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19030.hp2 HG02976.hp2 NA19030.hp2	a0003 a0004 a0003 a0004	a0003c0010 a0004c0011 a0003c0010 a0004c0011	a0003c0010t0019 a0004c0011t0003 a0003c0010t0019 a0004c0011t0003	a0003c0010t0019g0030 a0004c0011t0003g0043 a0003c0010t0019g0030 a0004c0011t0003g0043	2	54	0.0370	186	c.121 others(205): Show c.121-37453_121-37452insTATATCATATAAATAATATATATTTA TAATATATATCATATAAATAATATATATTTATAATATATATCATATAAAT AATATATATTTATAATATATATCATATAAATAATATATATTTATAATATA TATCATATAAATAATATATATTTATAATATATATCATATAAATAATATAT ATTTATAATA	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCDH15_chr10_53797771_54806231	54332312	A A	AATATAAT others(179): Show AATATAATATAATCTATATTATATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG02896.hp2 others(1): Show HG01069.hp1 HG01167.hp1 HG02896.hp2 NA19043.hp1	a0001 a0014 a0025 a0001 a0014 a0025	a0001c0001 a0014c0033 a0025c0027 a0001c0001 a0014c0033 a0025c0027	a0001c0001t0014 a0014c0033t0017 a0025c0027t0001 a0001c0001t0014 a0014c0033t0017 a0025c0027t0001	a0001c0001t0014g0067 a0001c0001t0014g0074 a0014c0033t0017g0023 others(1): Show a0001c0001t0014g0067 a0001c0001t0014g0074 a0014c0033t0017g0023 a0025c0027t0001g0080	4	102	0.0392	186	c.595 others(203): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATATAA TAATATATAATATAGATTATATTATATTATATATAATATAATATAGATTA TATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	6/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54332312	A A	AATATAAT others(179): Show AATATAATATAATCTATATTATATTATATATAATATAATATAATCTATAT TATATATTATTATATATAATATAATCTATATTATATATTATTATATATAA TATAATCTATATTATATATTATTATATATAATATAATCTATATTATATAT TATTATATATAATATAATCTATATTATATATTATTAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19043.hp2 HG01069.hp2 NA19043.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0003 a0007c0010t0003	a0007c0010t0003g0061 a0007c0010t0003g0068 a0007c0010t0003g0061 a0007c0010t0003g0068	2	94	0.0213	186	c.595 others(203): Show c.595-2607_595-2606insATAATAATATATAATATAGATTATATTA TATATAATAATATATAATATAGATTATATTATATATAATAATATATAATA TAGATTATATTATATATAATAATATATAATATAGATTATATTATATATAA TAATATATAATATAGATTATATTATATTATATATAATATAATATAGATTA TATTATAT	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	6/32			chr10	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCAGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03540.hp1 NA20129.hp1 HG03139.hp1 HG03540.hp1 NA20129.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0033 a0001c0012t0001g0077 a0001c0012t0001g0033 a0001c0012t0001g0077	3	436	0.0069	186	c.111 others(203): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC AGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA2_chr16_278164_292215	285902	T T	TCCCAACC others(179): Show TCCCAACCCCAACCCCAACCCCAACCCCAACCCCAACACCAACCCCGCGG TTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCT CCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTT CTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA19030.hp2 HG02257.hp2 NA19030.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0034 a0006c0013t0001g0034	2	436	0.0046	186	c.111 others(203): Show c.1119+214_1119+215insAACCCCAACCCCAACCCCAACACCAACC CCGCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCGC GGTTCTCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACCCCAACCCC GCGGTTCTCCCAACCCCAACCCCAACCCCGCGGTTCTCCCAACCCCAACC CCAACCCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(179): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGGAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	342	0.0029	186	c.20- others(201): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTTTTTCTTTTCTT TTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCT TTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PDIA6_chr2_10778391_10817785	10806628	C C	CAAAGAAA others(179): Show CAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAGGAA GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAAAAGAAAAGAAAAAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0202 a0002c0002t0001g0202	1	342	0.0029	186	c.20- others(201): Show c.20-3989_20-3988insTTCTTTCTTTCTTTCTTTCTTTTTTTCTTT TCTTTTCCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTT	PDIA6	ENSG00000143870.13	transcript	ENST00000272227.8	protein_coding	1/12			chr2	TogoVar
PER3_chr1_7779291_7850177	7803433	C C	CAAAAAAT others(179): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03710.hp2 HG02109.hp2 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0191 a0002c0002t0001g0274 a0002c0002t0001g0191 a0002c0002t0001g0274	2	410	0.0049	186	c.980 others(201): Show c.980-254_980-253insATTAGCCGGGCGTAGTGGCGGGCGCCTGTA GTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAG GCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCG ACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	PER3	ENSG00000049246.15	transcript	ENST00000377532.8	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
PEX10_chr1_2398974_2417564	2401351	T T	TCCTCCCT others(179): Show TCCTCCCTCCTCCTCCCTTCTTCCTCCCTCCTCCCTCCCTCCTCCCTCCC TCCTCCTCCCTCCTTCCTCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTC CTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCCTTCTTCCTCCCTCCTCCT TCCTCCCTCCTTCCTCCCTCCTCCTCCCTCCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	358	0.0028	186	c.44 others(197): Show c.4414_*4415insGAGGAAGGAGGGAGGAGGAGGGAGGAAGGAGGGA GGAAGGAGGAGGGAGGAAGAAGGGAGGAGGGAGGAGGAGGGAGGAGGAGG GAGGAGGAGGGAGGAGGAGGGAGGAAGGAGGGAGGAGGAAGGAGGGAGGA GGAGGGAGGGAGGAGGGAGGGAGGAGGGAGGAAGAAGGGAGGAGGAGGGA GG	PEX10	ENSG00000157911.11	transcript	ENST00000447513.7	protein_coding		2622		chr1	TogoVar

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