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
MPPED1_chr22_43407014_43512848	43496333	G G	GATGGTGG others(215): Show GATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGATGGTGGAGGTGG TGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGAGGTG GTGGTGGTGGAGGTGATGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGA GGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0025 a0001c0001t0002g0025	1	250	0.0040	222	c.633 others(239): Show c.633-1902_633-1901insATGGTGGTGGTGGAGGTGGTGGTGGTGG AGGTGGTGATGGTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATG GTGGAGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGATGGTGGAGGTGGT GGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGG AGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGGAGGTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499843	T T	TGGTGGTG others(215): Show TGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGGTGATGGAGGTGGTGATG GGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGT GGTGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGG TGGTGGAGGTGATGATGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTG GTGGTGATGGTGATGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	250	0.0040	222	c.748 others(239): Show c.748+1524_748+1525insGTGATGGAGGTGGTGATGGGGGTGGTGG TGGTGATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGGTG GTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGGTGGTGGTGGAGGT GATGATGGTGGTGGTGATGGAGGTGGTGATGGGGGTGGTGGTGGTGATGG TGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MROH2A_chr2_233773330_233838418	233787916	A A	ATATACAT others(215): Show ATATACATATATATTATATATACATATATATTATATATACATATATATTA TATATACATATATATTATATATATACATATATATTATATATACATATATA TTATATATATCATATATATTATATATACATATATATTATATATACATATA TATTATATATATACATATATATTATATATACATATATATTATATATACAT ATATATTATATATACATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0056 a0006c0056	a0006c0056t0001 a0006c0056t0001	a0006c0056t0001g0186 a0006c0056t0001g0186	1	378	0.0027	222	c.277 others(239): Show c.277-1577_277-1576insCATATATATTATATATACATATATATTA TATATACATATATATTATATATACATATATATTATATATATACATATATA TTATATATACATATATATTATATATATCATATATATTATATATACATATA TATTATATATACATATATATTATATATATACATATATATTATATATACAT ATATATTATATATACATATATATTATATATACATATATATTATA	MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	3/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
MSLN_chr16_755734_773862	769164	G G	GCCCCGGC others(215): Show GCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCC CACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCCGGCCCCACCCCCG GCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCGGCCCCGGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0278 a0003c0004t0003g0278	1	388	0.0026	222	c.43 others(231): Show c.431_*432insCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGG CCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCC CCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCACCCCCAGCCCC GGCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC CCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		303		chr16	TogoVar
MSLN_chr16_755734_773862	769188	G G	GCCCCGGC others(215): Show GCCCCGGCCCCACCCCCGGCCCCAGCCCCAGCCCCGGCCCCACCCCCGGC CCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCCCCGGCCCCAGCCC CAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCGGCCCCA CCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGC CCCAGCCCCAGCCCCGGCCCCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00733.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0074 a0002c0003t0002g0074	1	388	0.0026	222	c.45 others(231): Show c.455_*456insCCCCGGCCCCACCCCCGGCCCCAGCCCCAGCCCCGG CCCCACCCCCGGCCCCAGCCCCAGCCCCAGCCCCAGCCCCACCCCCGGCC CCGGCCCCAGCCCCAGCCCCAGCCCCGGCCCCACCCCCACCCCCGGCCCC GGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCAC CCCCGGCCCCGGCCCCAGCCCCAGCCCCGGCCCCAC	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		327		chr16	TogoVar
MSLN_chr16_755734_773862	769199	A A	ACCCCCGG others(215): Show ACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCACCCCCGG CCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCC CCACCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCCCCGGCCCCACCCCC GGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGG CCCCGGCCCCGGCCCCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0269 a0003c0004t0003g0269	1	388	0.0026	222	c.46 others(231): Show c.466_*467insCCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCG GCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGC CCCGGCCCCACCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCAGCCC CGGCCCCACCCCCGGCCCCGGCCCCACCCCCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCCGGCCCCGGCCCCGGCCCCACCCCCG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding		338		chr16	TogoVar
MUC5AC_chr11_1152953_1206138	1179567	T T	TGGAGGGG others(215): Show TGGAGGGGTCCCTGGCATGGTTGGGCAGAGGGTTCAGCAGAGCTGCCCAG CTCTAGGGAGGAGGGCGTGGCTGACGGAGGGGTCCCTGGCATGGTTGGGC AGAGGGTTCAGCAGAGCTGCCCAGCTCTAGGGAGGAGGGCGTGGCTGACG GAGGGGTCCCTGGCATGGTTGGGCAGAGGGTTCAGCAGAGCTGCCCAGCT CTAGAGAGGAGGGCGTGGCTGAC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0186 a0001c0004t0001g0186	1	292	0.0034	222	c.348 others(239): Show c.3485-305_3485-304insAGGGGTCCCTGGCATGGTTGGGCAGAGG GTTCAGCAGAGCTGCCCAGCTCTAGAGAGGAGGGCGTGGCTGACGGAGGG GTCCCTGGCATGGTTGGGCAGAGGGTTCAGCAGAGCTGCCCAGCTCTAGG GAGGAGGGCGTGGCTGACGGAGGGGTCCCTGGCATGGTTGGGCAGAGGGT TCAGCAGAGCTGCCCAGCTCTAGGGAGGAGGGCGTGGCTGACGG	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	26/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYO1F_chr19_8515778_8582442	8543943	T T	TGGTGGTG others(215): Show TGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGCTGGTG GTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGCTGGTGCT GGTGGTGCTGGTGCTGGTGCTGGTGGTGGTGCTGGTGGTGGCGGTGGCGG TGGCGGTGGCGGTGGCGGTGCTGGTGGTGGTGGTGGTGGTGGTGGTGGTG GTGCTGGTGGTGCTGGTGGTGGT	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0286 a0001c0001t0003g0286	1	342	0.0029	222	c.152 others(239): Show c.1524+353_1524+354insACCACCACCAGCACCACCAGCACCACCA CCACCACCACCACCACCACCACCAGCACCGCCACCGCCACCGCCACCGCC ACCGCCACCACCAGCACCACCACCAGCACCAGCACCAGCACCACCAGCAC CAGCACCAGCACCACCACCACCACCACCACCAGCACCACCAGCACCACCA GCACCATCACCACCACCACCACCACCACCACCACCAGCACCACC	MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27			chr19	TogoVar
MYO9A_chr15_71817291_72123150	72101167	T T	TGCCTCTG others(215): Show TGCCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCAGGGAGGGAGGTGGGTTCAGCCCCCCGCCAGGCCAGC CGCCCCGTCCGGGAGGGAGGTCGGGGCGTCAGCCTCCCGCCCGGCCAGCC GCCCCATCTGGGAGGTGAGGGGC	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0182 a0001c0001t0030g0182	1	308	0.0033	222	c.-72 others(241): Show c.-72+16291_-72+16512dupGCCCCTCACCTCCCAGATGGGGCGGC TGGCCGGGCGGGAGGCTGACGCCCCGACCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGGCTGAACCCACCTCCCTCCCTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCAGGCAGAGGC	MYO9A	ENSG00000066933.17	transcript	ENST00000356056.10	protein_coding	1/41			chr15	TogoVar
NAGK_chr2_71063648_71084808	71081015	T T	TTTTATTT others(215): Show TTTTATTTTATTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTAT TTTATATTTTATTTTATTTTATTTTATTTTATTTTATTTCATTTCATTTC ATTTTATTTCATTTCATTTCATTTTATTTGATTTTATTTTATATTTGATT TGATTTGATTTGATTTGATTTGATTTTATTTGATTTGATTTGATTTGATT TGATTTTATTTTATTTTATTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0009 a0001c0004t0004g0009	1	442	0.0023	222	c.25 others(233): Show c.2507_*2508insTTTATTTTATTTATTTTATTTTATTTTATTTTAT TTTATTTTATTTTATTTTATATTTTATTTTATTTTATTTTATTTTATTTT ATTTCATTTCATTTCATTTTATTTCATTTCATTTCATTTTATTTGATTTT ATTTTATATTTGATTTGATTTGATTTGATTTGATTTGATTTTATTTGATT TGATTTGATTTGATTTGATTTTATTTTATTTTATTTTA	NAGK	ENSG00000124357.13	transcript	ENST00000244204.11	protein_coding		1208		chr2	TogoVar
NEXN_chr1_77883624_77948895	77887912	T T	TTTCTTCT others(215): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0009 a0001c0001t0016g0009	1	268	0.0037	222	c.-90 others(231): Show c.-900_-899insTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	NEXN	ENSG00000162614.19	transcript	ENST00000334785.12	protein_coding		711		chr1	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(215): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCAC CCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCCCACCCCA CCCTCACCCCCACTACCCCCACCCTCACCCCACCCTCACCCTCACCCCCA CCCCACCCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCCCATCCT CACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02818.hp2 NA20129.hp2 HG02723.hp1 HG02818.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0015 a0001c0002t0024 a0001c0001t0002 a0001c0002t0015 a0001c0002t0024	a0001c0001t0002g0178 a0001c0002t0015g0207 a0001c0002t0024g0228 a0001c0001t0002g0178 a0001c0002t0015g0207 a0001c0002t0024g0228	3	316	0.0095	222	c.133 others(243): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGT GGGGGTGAGGGTGAGGGTGGGGTGAGGGTGGGGGTAGTGGGGGTGAGGGT GGGGTGGGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGG TGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(215): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCAC CCCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCACTACCCCCACC CTCACCCCACCCTCACCCTCACCCCCACCCCACCCTCACCCTCACCCCAC CCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCTCACCCCCATCCT CACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG03239.hp2 NA20129.hp1 HG01175.hp1 HG03239.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0001t0001 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0081 a0001c0001t0003g0079 a0001c0002t0002g0080 a0001c0001t0001g0081 a0001c0001t0003g0079 a0001c0002t0002g0080	3	316	0.0095	222	c.133 others(243): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGG TGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(215): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCAC CCCACCCTCACCCTCACCCCCACCCCACCCTCACCCCCACTACCCCCACC CTCACCCCACCCTCACCCTCACCCCCACCCCACCCTCACCCTCACCCCAC CCTCACCCTCACCCCCACCCCACCCCCACCCTCACCCTCACCCCCATCCT CACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp2 HG01358.hp2 others(13): Show HG01109.hp2 HG01167.hp2 HG01358.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02976.hp2 HG03041.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp1 HG03579.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0001c0012	a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 others(10): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0014 a0001c0001t0021 a0001c0001t0042 a0001c0001t0046 a0001c0001t0047 a0001c0002t0002 a0001c0002t0034 a0001c0002t0035 a0001c0003t0014 a0001c0007t0010 a0001c0012t0054	a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0019 others(13): Show a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0019 a0001c0001t0002g0310 a0001c0001t0007g0305 a0001c0001t0014g0010 a0001c0001t0021g0009 a0001c0001t0042g0013 a0001c0001t0046g0016 a0001c0001t0047g0007 a0001c0002t0002g0012 a0001c0002t0034g0014 a0001c0002t0035g0011 a0001c0003t0014g0241 a0001c0007t0010g0300 a0001c0012t0054g0018	16	316	0.0506	222	c.133 others(243): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGGTGGGGTGGGGGTGAGGGTGAGGG TGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGG GTGGGGGTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGG TGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NFATC2_chr20_51381963_51547719	51500818	A A	ACCACCCC others(215): Show ACCACCCCCCACCACCCCCACCCTCACCCCCACCCCACCCTCACCCTCAC CCCCACCCCACCCCCACCCTCACCCCCACCCCACCCTCACCCCCACTACC CCCACCCTCACCCCACCCTCACCCTCACCCCCACCCCACCCTCACCCTCA CCCCACCCTCACCCTCACCCCCACCCCACCCTCACCCTCACCCCCATCCT CACCCTCACCCTCACCCCCACCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0247 a0001c0001t0008g0247	1	316	0.0032	222	c.133 others(243): Show c.1332+15965_1332+15966insGGGTGGGGGTGAGGGTGAGGGTGA GGATGGGGGTGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGT GAGGGTGAGGGTGGGGTGGGGGTGAGGGTGAGGGTGGGGTGAGGGTGGGG GTAGTGGGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGGGTGGGGG TGAGGGTGAGGGTGGGGTGGGGGTGAGGGTGGGGGTGGTGGGGGGTGG	NFATC2	ENSG00000101096.20	transcript	ENST00000371564.8	protein_coding	3/10			chr20	TogoVar
NGEF_chr2_232873701_233018256	232995306	T T	TATGTGTA others(215): Show TATGTGTACTGTGTACAGTATGTGTACTGTATATGTGTACAGTATGTATA CTGCGTACAGCATGTATACTGTATATATGTACAGTATGTATACTGTATAT ATGTACAGTATGTATACTGTATACAGCATGTATACTGTATACAGCATGTA TACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATATATGT ACAGTATGTATACCGTATACAGC	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0215 a0001c0002t0003g0215	1	362	0.0028	222	c.-75 others(241): Show c.-75+17761_-75+17762insGCTGTATACGGTATACATACTGTACA TATATACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATAC ATGCTGTATACAGTATACATGCTGTATACAGTATACATACTGTACATATA TACAGTATACATACTGTACATATATACAGTATACATGCTGTACGCAGTAT ACATACTGTACACATATACAGTACACATACTGTACACAGTACACAT	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NINJ2_chr12_559296_668445	577425	A A	ATACATAT others(215): Show ATACATATATATATGTATATATATATATACATATATATATGTATATATAT ATATACATATATATATGTATATATATATATACATATATATATGTATATAT ATATACATATATATATGTATATATATATACATATATATATGTATATATAT ATATACATATATATGTATATATATATATACATATATATATGTGTGTATAT ATATATATATACATATATATATG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0396 a0001c0001t0001g0396	1	404	0.0025	222	c.34- others(239): Show c.34-11248_34-11247insCATATATATATGTATATATATATATATA CACACATATATATATGTATATATATATATACATATATATGTATATATATA TATACATATATATATGTATATATATATACATATATATATGTATATATATA TACATATATATATGTATATATATATATACATATATATATGTATATATATA TATACATATATATATGTATATATATATATACATATATATATGTA	NINJ2	ENSG00000171840.13	transcript	ENST00000305108.10	protein_coding	1/3			chr12	TogoVar
NKAIN3_chr8_62243854_62989904	62870214	A A	ATATATCT others(215): Show ATATATCTATATCTATATATAGATATCTATAGATATCTATATCTATATAT AGATATCTATAGATATCTATATCTATATATAGATATCTATAGATATCTAT ATCTATATATAGATATCTATAGATATCTATATCTATATATAGATATCTAT AGATATCTATATCTATATATAGATATCTATAGATATCTATATCTATATCT ATATATAGATATCTATAGATATC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03540.hp2 HG02965.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0091 a0001c0001t0042 a0001c0001t0091	a0001c0001t0042g0063 a0001c0001t0091g0080 a0001c0001t0042g0063 a0001c0001t0091g0080	2	144	0.0139	222	c.472 others(241): Show c.472-48198_472-48197insCTATATATAGATATCTATAGATATCT ATATCTATATATAGATATCTATAGATATCTATATCTATATATAGATATCT ATAGATATCTATATCTATATATAGATATCTATAGATATCTATATCTATAT ATAGATATCTATAGATATCTATATCTATATCTATATATAGATATCTATAG ATATCTATATCTATATCTATATATAGATATCTATAGATATCTATAT	NKAIN3	ENSG00000185942.13	transcript	ENST00000623646.3	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
NTN5_chr19_48656407_48678017	48669528	T T	TCATCACC others(215): Show TCATCACCACCACCACCACCATCACCACCACCACCATCATCACCACCATC ACCACCACCATCATCACCATCACCACCACCAACACCACCACCACCATCAC CACCACCACCATCATCACCACCATCACCACCACCATCATCACCATCACCA CCACCAACACCACCACCATCACCATCATCACCACCATCACCACCACCATC ATCACCATCACCACCATCACCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	412	0.0024	222	c.631 others(237): Show c.631+827_631+828insGTGGTGATGGTGGTGATGGTGATGATGGTG GTGGTGATGGTGGTGATGATGGTGATGGTGGTGGTGTTGGTGGTGGTGAT GGTGATGATGGTGGTGGTGATGGTGGTGATGATGGTGGTGGTGGTGATGG TGGTGGTGGTGTTGGTGGTGGTGATGGTGATGATGGTGGTGGTGATGGTG GTGATGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG	NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6			chr19	TogoVar
NXN_chr17_794310_984776	891749	T T	TCAGGGAA others(215): Show TCAGGGAACCTAAGCTAACCCCACCATGCACAGCCCATCAGGGAACCCAA GCTAACCCCACCATGCACAACCCAACAGGGAACCTAAACTAACCCCACCA TGCACAATCCAACAGGGAACCTAAGCTAACCCCACCATGCACAACCCAAC AGGGAACCTAAGCTAACCCCACTATGCACAACCCAACAGGGCACCTAAAC TAACCCCACCATGCACGACCCAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(149): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18955.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19060.hp1 NA19066.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0002t0004 a0001c0002t0009 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0001c0006t0005 a0001c0007t0001 a0001c0009t0013 a0001c0011t0004 a0002c0005t0004	a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0030 others(149): Show a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0001g0160 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0002g0031 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0050 a0001c0001t0002g0067 a0001c0001t0002g0079 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0098 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0114 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0149 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0167 a0001c0001t0002g0169 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0194 a0001c0001t0002g0204 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0003g0020 a0001c0001t0003g0027 a0001c0001t0003g0033 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0044 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0061 a0001c0001t0003g0070 a0001c0001t0003g0084 a0001c0001t0003g0097 a0001c0001t0003g0106 a0001c0001t0003g0117 a0001c0001t0003g0130 a0001c0001t0003g0140 a0001c0001t0003g0143 a0001c0001t0003g0180 a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0001t0003g0193 a0001c0001t0003g0208 a0001c0001t0003g0227 a0001c0001t0004g0041 a0001c0001t0004g0096 a0001c0001t0004g0129 a0001c0001t0004g0152 a0001c0001t0004g0155 a0001c0001t0004g0224 a0001c0001t0005g0032 a0001c0001t0005g0074 a0001c0001t0005g0108 a0001c0001t0005g0161 a0001c0001t0006g0123 a0001c0001t0006g0168 a0001c0001t0006g0184 a0001c0001t0006g0202 a0001c0001t0007g0023 a0001c0001t0008g0176 a0001c0001t0008g0192 a0001c0001t0010g0003 a0001c0001t0010g0006 a0001c0001t0011g0013 a0001c0001t0011g0174 a0001c0001t0014g0109 a0001c0001t0014g0113 a0001c0001t0015g0239 a0001c0001t0015g0240 a0001c0001t0016g0001 a0001c0001t0020g0164 a0001c0001t0021g0019 a0001c0001t0022g0151 a0001c0001t0024g0011 a0001c0001t0025g0200 a0001c0001t0026g0173 a0001c0001t0028g0091 a0001c0001t0029g0134 a0001c0001t0030g0237 a0001c0001t0031g0238 a0001c0001t0033g0241 a0001c0002t0004g0043 a0001c0002t0009g0008 a0001c0002t0009g0009 a0001c0003t0001g0042 a0001c0003t0001g0223 a0001c0003t0008g0022 a0001c0003t0008g0179 a0001c0004t0001g0235 a0001c0006t0005g0080 a0001c0007t0001g0089 a0001c0009t0013g0196 a0001c0011t0004g0234 a0002c0005t0004g0197	152	242	0.6281	222	c.361 others(241): Show c.361-65672_361-65671insCTGGGTCGTGCATGGTGGGGTTAGTT TAGGTGCCCTGTTGGGTTGTGCATAGTGGGGTTAGCTTAGGTTCCCTGTT GGGTTGTGCATGGTGGGGTTAGCTTAGGTTCCCTGTTGGATTGTGCATGG TGGGGTTAGTTTAGGTTCCCTGTTGGGTTGTGCATGGTGGGGTTAGCTTG GGTTCCCTGATGGGCTGTGCATGGTGGGGTTAGCTTAGGTTCCCTG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODF3_chr11_191761_205258	194850	A A	ACAGGGCC others(215): Show ACAGGGCCACAGCCACACACACAGACCCACATACAGAGGATCCCACTCAA GGAGCACATGTGCGAAAGTCCACCACAGAGGGACACACAAATGGGGACAT CAGGAACACACTCAGGGCCACAGCCACACACACAGACCCACATACAGAGG ATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACAGAGGGACACACA AATGGGGACATCAGGAACACACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	222	c.-22 others(233): Show c.-2205_-2204insCAGGGCCACAGCCACACACACAGACCCACATACA GAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCACCACAGAGGGACA CACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACACAG ACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCACC ACAGAGGGACACACAAATGGGGACATCAGGAACACACT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		1910		chr11	TogoVar
OLFM1_chr9_135082668_135126180	135124531	G G	GGAAGGAA others(215): Show GGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAAGGAAGGAAGGAAGAA AGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAAGAAAGAAAGAAAAAG GAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAGA AAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG AAGGAAGGAAGGAAGGAAGGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0297 a0001c0001t0004g0297	1	360	0.0028	222	c.43 others(233): Show c.4353_*4354insGAAGGAAGGGGAAGGGGAAGGGGAAGGGAAGGAA GGAAGGAAGGAAGAAAGAAAGAAAGAGAAACGAAGAAAAGAAAGAAGAAA GAAAGAAAGAAAAAGGAAAGAAAGAAAAAGGAAAGAAAGAAAGAAGAAAG AAAGAAAGAAAGAGAAAGAAAGAGAGAGAGAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGGAAGGAAGGAAGGAAGGAAGGAAA	OLFM1	ENSG00000130558.20	transcript	ENST00000371793.8	protein_coding		3352		chr9	TogoVar
OPRL1_chr20_64075082_64105633	64088734	G G	GGAGGGCA others(215): Show GGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCAGG ATCTGTGCAGGGAAGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAG AGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAGGGCAGG ATCTGTGCAGAGTGGCCAGGATCTGTGAAGAGTGGCCAGGATCTGTGCAG GGAGGGCAGGATCTGTGCAGAGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG01106.hp2 others(12): Show HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp1 HG01496.hp1 HG01934.hp2 HG02074.hp2 HG02602.hp1 HG02738.hp1 HG03490.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp2 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0007g0004 a0001c0001t0007g0023 a0001c0001t0007g0031 a0001c0001t0008g0028 a0001c0001t0008g0030 a0002c0004t0001g0029	15	66	0.2273	222	c.-18 others(241): Show c.-184-3231_-184-3230insAGGGCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGAGTGGCCAGGATCTGTGCAGGGAAGGCAGGATCTGTGC AGAGTGGCCAGGATCTGTGCAGAGTGGCCAGGATCTGTGCAGAGTGGCCA GGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTGGCCAGGATCTGTGA AGAGTGGCCAGGATCTGTGCAGGGAGGGCAGGATCTGTGCAGAGTG	OPRL1	ENSG00000125510.18	transcript	ENST00000336866.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr20	TogoVar
OR1F1_chr16_3183204_3211556	3197835	G G	GGGAGAAG others(215): Show GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAG GAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGA GAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA GGGAGAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGG GAGAAGGAGAGGGAGAGGGAGAA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0195 a0001c0001t0003g0195	1	328	0.0031	222	c.-12 others(239): Show c.-12-6353_-12-6352insAGGAGAGGGAGAGGGAGAAGGAGAGGGA GAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGA GGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAAGGAGAGG GAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGA GAAGGAGAGGGAGAAGGAGAGGGAGAGGGAGAAGGAGAGGGAGA	OR1F1	ENSG00000168124.3	transcript	ENST00000304646.3	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr16	TogoVar
OR2T12_chr1_248285139_248308424	248306763	G G	GCCTGAGG others(215): Show GCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGC CGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGA GCCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGG AGCCGCCCTGAGGACTGGAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0007 a0009c0011t0007	a0009c0011t0007g0008 a0009c0011t0007g0008	1	406	0.0025	222	c.-36 others(233): Show c.-3608_-3607insGGGCTCCAGTCCTCAGGGCGGCTCCTGTCCTCAG GGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTC AGGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3340		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306763	G G	GCCTGAGG others(215): Show GCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACTGGAGC CGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGA GCCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGG AGCCGCCCTGAGGACTAGAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA19002.hp1 NA18979.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	406	0.0049	222	c.-36 others(233): Show c.-3608_-3607insGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAG GGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCTC AGGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCT CAGGGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3340		chr1	TogoVar
OR2T12_chr1_248285139_248308424	248306763	G G	GCCTGAGG others(215): Show GCCTGAGGACTGGAGCCGCCTGAGGACTGGAACCCCCTGAGGACTGGAGC CGCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGAG CCCCCTGAGGACTGGAGCCGCCTGAGGACTGGATACCCCTGAGGACTGGA GCCCCCTGAGGACTGGAACCCCCTGAGGACTGGAGCCCCCTGAGGACAGG AGCCGCCCTGAGGACTAGAGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0097 a0001c0001t0019g0097	1	406	0.0025	222	c.-36 others(233): Show c.-3608_-3607insGGGCTCTAGTCCTCAGGGCGGCTCCTGTCCTCAG GGGGCTCCAGTCCTCAGGGGGTTCCAGTCCTCAGGGGGCTCCAGTCCTCA GGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGGGGCTCCAGTCCTC AGGGGTATCCAGTCCTCAGGCGGCTCCAGTCCTCAGGCGGCTCCAGTCCT CAGGGGGTTCCAGTCCTCAGGCGGCTCCAGTCCTCAGG	OR2T12	ENSG00000177201.3	transcript	ENST00000641276.1	protein_coding		3340		chr1	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(215): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TTATATATATATTATATATATAATATATATAATATATATAATATAATATA TTTTATATATATATAATATATTATATAATATAATATATATATTATATATA TAATATATATATAATATAATATAATATAATATATTATATTATATAATATA TGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03490.hp2 HG03492.hp1 HG02257.hp1 HG03490.hp2 HG03492.hp1	a0003 a0004 a0003 a0004	a0003c0004 a0004c0011 a0003c0004 a0004c0011	a0003c0004t0003 a0004c0011t0003 a0003c0004t0003 a0004c0011t0003	a0003c0004t0003g0020 a0004c0011t0003g0056 a0003c0004t0003g0020 a0004c0011t0003g0056	3	215	0.0140	222	c.9+6 others(233): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATTATATATATATTATATATATAATATATATAATATAT ATAATATAATATATTTTATATATATATAATATATTATATAATATAATATA TATATTATATATATAATATATATATAATATAATATAATATAATATATTAT ATTATATAATATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OR4F5_chr1_60419_76585	66249	A A	ATATATTA others(215): Show ATATATTATATATATTATATATATTATATATATTATATATATTATATATA TTATATATATATTATATATATAATATATATATTATATATAATATAATATA TTTTATATATATATAATATATTATATAATATAATATATATATTATATATA TAATATATATATAATATAATATAATATAATATATTATATTATATAATATA TGATATAAATATAATATATATTT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0057 a0003c0004t0003g0057	1	215	0.0047	222	c.9+6 others(233): Show c.9+678_9+679insTATTATATATATTATATATATTATATATATTATA TATATTATATATATTATATATATATTATATATATAATATATATATTATAT ATAATATAATATATTTTATATATATATAATATATTATATAATATAATATA TATATTATATATATAATATATATATAATATAATATAATATAATATATTAT ATTATATAATATATGATATAAATATAATATATATTTTA	OR4F5	ENSG00000186092.7	transcript	ENST00000641515.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr1	TogoVar
OSGIN1_chr16_83948240_83971332	83950741	G G	GCACACAC others(215): Show GCACACACGTACATGCACACATGAGCACATGTGCACACATGCACATACAT ACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGCACAT ACATACTGGCACACACGTACATGCACACATGAGCACATGTGCACACATGC ACATACATACTGGCACACGTACACACACATGCACACATGAGCACATGTGC ACACATGCACATACATACTGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG01891.hp1 others(13): Show HG01109.hp2 HG01243.hp1 HG01891.hp1 HG02145.hp2 HG02258.hp2 HG02622.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp2 HG03579.hp2 NA18522.hp1 NA18522.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0003c0006	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0003t0004 a0003c0006t0004	a0001c0001t0002g0203 a0001c0001t0004g0021 a0001c0002t0001g0056 others(10): Show a0001c0001t0002g0203 a0001c0001t0004g0021 a0001c0002t0001g0056 a0001c0002t0003g0204 a0001c0002t0004g0023 a0001c0002t0004g0061 a0001c0002t0004g0065 a0001c0003t0004g0066 a0001c0003t0004g0067 a0001c0003t0004g0069 a0003c0006t0004g0022 a0003c0006t0004g0062 a0003c0006t0004g0068	16	350	0.0457	222	c.-26 others(233): Show c.-2662_-2661insCACACACGTACATGCACACATGAGCACATGTGCA CACATGCACATACATACTGGCACACACGTACATGCACACATGAGCACATG TGCACACATGCACATACATACTGGCACACACGTACATGCACACATGAGCA CATGTGCACACATGCACATACATACTGGCACACGTACACACACATGCACA CATGAGCACATGTGCACACATGCACATACATACTGGCA	OSGIN1	ENSG00000140961.14	transcript	ENST00000393306.6	protein_coding		2498		chr16	TogoVar
OTULIN_chr5_14659718_14704850	14685817	T T	TGCACATT others(215): Show TGCACATTTGTAGTTCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCT CTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCT CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCGTTTTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp2 HG01167.hp1 others(14): Show HG00099.hp1 HG00738.hp2 HG01167.hp1 HG01168.hp2 HG01928.hp1 HG01934.hp1 HG01993.hp1 HG02004.hp1 HG02040.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG03017.hp1 HG03831.hp1 NA18612.hp1 NA19060.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0026 a0001c0001t0042 others(2): Show a0001c0001t0004 a0001c0001t0026 a0001c0001t0042 a0001c0001t0046 a0001c0001t0059	a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0109 others(11): Show a0001c0001t0004g0016 a0001c0001t0004g0021 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0026g0021 a0001c0001t0042g0021 a0001c0001t0046g0115 a0001c0001t0059g0108	17	354	0.0480	222	c.469 others(239): Show c.469-1686_469-1685insTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTTTTAGCACATTTGTAGTTCTTT	OTULIN	ENSG00000154124.6	transcript	ENST00000284274.5	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
PACS2_chr14_105309748_105403147	105349859	G G	GGAGAACT others(215): Show GGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAG GAGAGCGTGGCTAATGCAGGACCCGGAGAACTTCCAGGAGAGCGTGGCTA ATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCG AGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGA GAGCGTGGCTAATGCAGGACCCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0030 a0002c0002t0030	a0002c0002t0030g0179 a0002c0002t0030g0179	1	210	0.0048	222	c.207 others(239): Show c.207+1306_207+1307insGCAGGACCCCGAGAACTTCCAGGAGAGC GTGGCTAATGCAGGACCCGGAGAACTTCCAGGAGAGCGTGGCTAATGCAG GACCCCGAGAACTTCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACT TCCAGGAGAGCGTGGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGT GGCTAATGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAAT	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PACSIN2_chr22_42864773_43020149	42981969	C C	CCGGCCAG others(215): Show CCGGCCAGCCGCCCCGCCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCTGCCCCGTCCGGGAG GGAGGCGGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0252 a0001c0001t0006g0252	1	294	0.0034	222	c.-78 others(241): Show c.-78+33051_-78+33052insACCCCCCCCCCCCCCCCGCCTCCCTC CCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCCAGG CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC GGGGGGCTGACCCCCCCACCTCCCTCCCGGGCGGGGCGGCTGGCCG	PACSIN2	ENSG00000100266.19	transcript	ENST00000263246.8	protein_coding	1/10			chr22	TogoVar
PADI1_chr1_17200128_17251007	17208572	T T	TGGGCTAG others(215): Show TGGGCTAGCTCACCACCCTGTCCACCACCCACCCCAGTGGGCTAGCCCAC CACCCTGTCCACCCCTGACTCCAGAGGGCTAGCTAACCACCCTTTCCACC CCCCACCCCAGTAGGCTAGCCCACCACCCTGTCCACCCCCGACTCCAGTG GGCTAGCTCACCACCCTGTCCACCACCCACCCCAGTGGGCTAGCCCACCA CCCTGTCCACCCCCGACTCCAGA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0301 a0001c0001t0004g0301	1	406	0.0025	222	c.92+ others(237): Show c.92+3288_92+3289insACCCACCCCAGTGGGCTAGCCCACCACCCT GTCCACCCCTGACTCCAGAGGGCTAGCTAACCACCCTTTCCACCCCCCAC CCCAGTAGGCTAGCCCACCACCCTGTCCACCCCCGACTCCAGTGGGCTAG CTCACCACCCTGTCCACCACCCACCCCAGTGGGCTAGCCCACCACCCTGT CCACCCCCGACTCCAGAGGGCTAGCTCACCACCCTGTCCACC	PADI1	ENSG00000142623.11	transcript	ENST00000375471.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALD1_chr10_70473767_70573450	70554970	T T	TCCTCCCC others(215): Show TCCTCCCCCTCCCCTCCCCCTCCTCCCCTTCCTCCCCTCCCCCTCCTCTC CTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCCCCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCC CCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCC CTCCTCCCCCTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0282 a0001c0001t0017g0282	1	308	0.0033	222	c.226 others(241): Show c.2262+7531_2262+7532insCTCCCCTCCCCCTCCTCCCCTTCCTC CCCTCCCCCTCCTCTCCTTCCTCCCCTCCCCCCTCCTCCCCCCTCCTCCC CCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCACTCCCCTTCCCCTCC CCTCCACTCCCCTTCCCCTCCCCTCCACTCCCCTTCCCCTCCCCTCCCCT CCTCCCCTCCCCTCCCCTCCTCCCCCTCCCCTCCCCTCCCCTCCCC	PALD1	ENSG00000107719.10	transcript	ENST00000263563.7	protein_coding	18/19		INFO_REALIGN_3_PRIME	chr10	TogoVar
PARD3_chr10_34104561_34820296	34605692	A A	ATATATAT others(215): Show ATATATATATCTCCTATATATATATATCTCCTATATATATATATCTCCTA TATATATATCTCCTATATATATATATCTCCTATATATATATATCTCCTAT ATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATA TATATCTCCTATATATATATCTCCTATATATATATATCTCCTATATATAT ATCTCCTATATATATATATCTCC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	100	0.0100	222	c.223 others(241): Show c.223-88534_223-88533insGGAGATATATATATATAGGAGATATA TATATAGGAGATATATATATATAGGAGATATATATATAGGAGATATATAT ATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATA GGAGATATATATATATAGGAGATATATATATATAGGAGATATATATATAG GAGATATATATATATAGGAGATATATATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PARD3_chr10_34104561_34820296	34605777	C C	CTATATAT others(215): Show CTATATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATA TATATATATCTCCTATATATATATCTCCTATATATATATATCTCCTATAT ATATATCTCCTATATATATATATCTCCTATATATATATCTCCTATATATA TATATCTCCTATATATATATCTCCTATATATATATCTCCTATATATATAT ATCTCCTATATATATATCTCCTA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02523.hp2 HG03041.hp2 others(1): Show HG00544.hp2 HG02523.hp2 HG03041.hp2 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0003t0022	a0001c0001t0001g0074 a0001c0001t0008g0041 a0001c0001t0011g0083 others(1): Show a0001c0001t0001g0074 a0001c0001t0008g0041 a0001c0001t0011g0083 a0001c0003t0022g0080	4	100	0.0400	222	c.223 others(241): Show c.223-88619_223-88618insTAGGAGATATATATATAGGAGATATA TATATATAGGAGATATATATATAGGAGATATATATATAGGAGATATATAT ATATAGGAGATATATATATAGGAGATATATATATATAGGAGATATATATA TAGGAGATATATATATATAGGAGATATATATATAGGAGATATATATATAT AGGAGATATATATATAGGAGATATATATATATAGGAGATATATATA	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(215): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGG GGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCGGGGGGGGGGCGGG GGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGG GGGGCGGGGGGGGCGGGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	221	0.0045	222	c.-95 others(231): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGGCGGGGGGGCG GGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGGCGGGGGGCGGGGGGGCG GGGGGGGGGCGGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGG GGCGGGGGGCGGGGGGGCGGGGGGGGCGGGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PAX8_chr2_113210997_113283921	113236378	G G	GGGCCCAC others(215): Show GGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGGCGCGACCCCTCGGCCC ACCTTGCGGGAGCCGCCTAGGGCCGGAGGCGCGACCCCTCGGCCCAACTT GAGGCCCGGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGCGGGA GCCGCCTAGGACCGGAGGCGCGACCCCTCGGCCCAACTTGAGGCCCGGCC TAGGACCGGAGGCGCGACCCCTC	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	300	0.0033	222	c.898 others(237): Show c.898+222_898+223insGAGGGGTCGCGCCTCCGGTCCTAGGCCGGG CCTCAAGTTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCGGCTCCCGCA AGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCCGGGCCTCAAGTTGG GCCGAGGGGTCGCGCCTCCGGCCCTAGGCGGCTCCCGCAAGGTGGGCCGA GGGGTCGCGCCTCCAGTCCTAGGCCGGGCCTCAAGGTGGGCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113236378	G G	GGGCCCAC others(215): Show GGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGGCGCGACCCCTCGGCCC ACCTTGCGGGAGCCGCCTAGGGCCGGAGGCGCGACCCCTCGGCCCAACTT GAGGCCCGGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGCGGGA GCCGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGAGGCCCGGCC TAGGACCGGAGGCGCGACCCCTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00642.hp2 others(80): Show HG00408.hp1 HG00544.hp1 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01109.hp1 HG01167.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01981.hp1 HG02040.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02280.hp2 HG02630.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03486.hp2 HG03579.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18941.hp2 NA18948.hp2 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18973.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18989.hp2 NA18993.hp1 NA18994.hp2 NA19009.hp2 NA19010.hp1 NA19030.hp1 NA19056.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp2 NA19088.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 others(1): Show a0001c0001 a0001c0006 a0001c0007 a0001c0009	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0024 a0001c0001t0026 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0006t0002 a0001c0007t0005 a0001c0009t0014	a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0091 others(69): Show a0001c0001t0002g0076 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0094 a0001c0001t0002g0104 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0115 a0001c0001t0002g0131 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0214 a0001c0001t0003g0007 a0001c0001t0003g0015 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0116 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0238 a0001c0001t0004g0011 a0001c0001t0004g0035 a0001c0001t0004g0039 a0001c0001t0004g0040 a0001c0001t0004g0044 a0001c0001t0004g0046 a0001c0001t0004g0047 a0001c0001t0004g0050 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0004g0058 a0001c0001t0004g0187 a0001c0001t0004g0218 a0001c0001t0004g0254 a0001c0001t0005g0002 a0001c0001t0005g0100 a0001c0001t0005g0105 a0001c0001t0006g0077 a0001c0001t0006g0078 a0001c0001t0006g0079 a0001c0001t0006g0081 a0001c0001t0006g0082 a0001c0001t0007g0087 a0001c0001t0007g0103 a0001c0001t0007g0178 a0001c0001t0007g0213 a0001c0001t0008g0042 a0001c0001t0008g0045 a0001c0001t0008g0057 a0001c0001t0008g0166 a0001c0001t0008g0168 a0001c0001t0008g0184 a0001c0001t0009g0141 a0001c0001t0015g0111 a0001c0001t0016g0232 a0001c0001t0017g0020 a0001c0001t0024g0250 a0001c0001t0026g0096 a0001c0001t0028g0097 a0001c0001t0033g0239 a0001c0001t0037g0157 a0001c0006t0002g0101 a0001c0007t0005g0102 a0001c0009t0014g0223	83	300	0.2767	222	c.898 others(237): Show c.898+222_898+223insGAGGGGTCGCGCCTCCGGTCCTAGGCCGGG CCTCAAGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCGGCTCCCGCA AGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCCGGGCCTCAAGTTGG GCCGAGGGGTCGCGCCTCCGGCCCTAGGCGGCTCCCGCAAGGTGGGCCGA GGGGTCGCGCCTCCAGTCCTAGGCCGGGCCTCAAGGTGGGCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PAX8_chr2_113210997_113283921	113236378	G G	GGGCCCAC others(215): Show GGGCCCACCTTGAGGCCCGGCCTAGGACTGGAGGCGCGACCCCTCGGCCC ACCTTGCGGGAGCCGCCTAGGGCCGGAGGCGCGACCCCTCGGCCCAACTT GAGGCCCGGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGCGGGA GCCGCCTAGGACCGGAGGCGCGACCCCTCGGCCCACCTTGAGGCCCGGCC TAGGACTGGAGGCGCGACCCCTC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG02273.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG02273.hp2 HG02300.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0055 others(2): Show a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0055 a0001c0001t0004g0059 a0001c0001t0004g0060	5	300	0.0167	222	c.898 others(237): Show c.898+222_898+223insGAGGGGTCGCGCCTCCAGTCCTAGGCCGGG CCTCAAGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCGGCTCCCGCA AGGTGGGCCGAGGGGTCGCGCCTCCGGTCCTAGGCCGGGCCTCAAGTTGG GCCGAGGGGTCGCGCCTCCGGCCCTAGGCGGCTCCCGCAAGGTGGGCCGA GGGGTCGCGCCTCCAGTCCTAGGCCGGGCCTCAAGGTGGGCC	PAX8	ENSG00000125618.18	transcript	ENST00000429538.8	protein_coding	8/11			chr2	TogoVar
PCDHGA1_chr5_141325514_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01099.hp1 HG01168.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0239 a0003c0004t0001g0240 a0003c0004t0001g0239 a0003c0004t0001g0240	2	268	0.0075	222	c.242 others(243): Show c.2421+74400_2421+74401insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA1	ENSG00000204956.6	transcript	ENST00000517417.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA2_chr5_141333760_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01099.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0117 a0001c0001t0001g0118	2	272	0.0074	222	c.242 others(243): Show c.2424+66110_2424+66111insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA2	ENSG00000081853.15	transcript	ENST00000394576.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA3_chr5_141338829_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp2 HG01099.hp2 HG01168.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0036 a0003c0003t0001g0037 a0003c0003t0001g0036 a0003c0003t0001g0037	2	270	0.0074	222	c.242 others(243): Show c.2424+61048_2424+61049insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA3	ENSG00000254245.3	transcript	ENST00000253812.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA4_chr5_141350021_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01099.hp1 HG01168.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0236 a0002c0002t0001g0237	2	274	0.0073	222	c.251 others(243): Show c.2514+49884_2514+49885insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA4	ENSG00000262576.3	transcript	ENST00000571252.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA5_chr5_141359162_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01099.hp1 HG01168.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0114 a0001c0002t0001g0115	2	292	0.0069	222	c.242 others(243): Show c.2421+40754_2421+40755insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA5	ENSG00000253485.3	transcript	ENST00000518069.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA6_chr5_141368891_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01168.hp1 HG01099.hp2 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0190 a0001c0002t0001g0191	2	292	0.0069	222	c.242 others(243): Show c.2424+30998_2424+30999insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA6	ENSG00000253731.3	transcript	ENST00000517434.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA7_chr5_141377742_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01099.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0175 a0001c0001t0001g0176	2	292	0.0069	222	c.242 others(243): Show c.2424+22182_2424+22183insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA7	ENSG00000253537.3	transcript	ENST00000518325.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA8_chr5_141387633_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01099.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	302	0.0066	222	c.242 others(243): Show c.2424+12268_2424+12269insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCA GGCTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCG GGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGG CGCCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA8	ENSG00000253767.3	transcript	ENST00000398604.3	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
PCDHGA9_chr5_141397778_141517975	141407491	A A	ATTTCTGT others(215): Show ATTTCTGTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGACTGC AGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCATGCCA TTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACT ACGCCCGGCTAATTTTTTGCATT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01168.hp2 HG01099.hp1 HG01168.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0286 a0001c0005t0001g0287 a0001c0005t0001g0286 a0001c0005t0001g0287	2	302	0.0066	222	c.242 others(241): Show c.2424+2129_2424+2130insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGACTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTGCATTTTTCTGTTTTTCTT	PCDHGA9	ENSG00000261934.3	transcript	ENST00000573521.2	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results