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
STIM1_chr11_3850664_4098208	3895730	CTTTCTTT others(88): Show CTTTCTTTTTCTTTCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCCTTCCTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp1 NA18940.hp2 others(3): Show HG02559.hp2 HG02622.hp1 NA18940.hp2 NA18951.hp1 NA19068.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002	a0001c0001t0005g0153 a0001c0001t0005g0158 a0001c0001t0005g0272 others(3): Show a0001c0001t0005g0153 a0001c0001t0005g0158 a0001c0001t0005g0272 a0001c0002t0001g0139 a0001c0002t0001g0160 a0001c0002t0002g0230	6	298	0.0201	-95	c.139 others(114): Show c.139+39329_139+39423delTTCTTTCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCC TTCCTTCTTTCTTTTCTTT	STIM1	ENSG00000167323.13	transcript	ENST00000526596.2	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
STK38L_chr12_27239286_27330959	27241192	TTATATAT others(88): Show TTATATATATTACATATATGACTCTGTATAGTTATATATATTACATATAT GACTCTGTATAGTTATATATATTACATATATGACTCTGTATAGTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	308	0.0032	-95	c.-31 others(106): Show c.-3151_-3057delTATATATATTACATATATGACTCTGTATAGTTAT ATATATTACATATATGACTCTGTATAGTTATATATATTACATATATGACT CTGTATAGTTA	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3093		chr12	TogoVar
TACC3_chr4_1716521_1750171	1720927	GCGGCCGC others(88): Show GCGGCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGC CGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGCCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0063 a0001c0006t0001g0063	1	342	0.0029	-95	c.-71 others(104): Show c.-717_-623delCGGCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGA CATGGAGTCCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGT CCCGCCGCC	TACC3	ENSG00000013810.21	transcript	ENST00000313288.9	protein_coding		593		chr4	TogoVar
TAOK1_chr17_29385363_29556903	29439173	CCTCAATT others(88): Show CCTCAATTTGTCATGATAATTTCTTTCTTTTTTTTTTTTTTTTTTAAGAC TGATTCTCACTCCTCTCTTGCCCAGGCTGGAGTGCAGTGGGGTGAT	C C	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02809.hp2 HG02895.hp2 others(5): Show HG02109.hp2 HG02809.hp2 HG02895.hp2 HG02965.hp1 HG03130.hp1 HG03471.hp1 HG03516.hp1 NA19043.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0003 a0001c0004t0028 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0004t0028 a0001c0004t0029	a0001c0004t0001g0168 a0001c0004t0001g0202 a0001c0004t0001g0209 others(5): Show a0001c0004t0001g0168 a0001c0004t0001g0202 a0001c0004t0001g0209 a0001c0004t0001g0222 a0001c0004t0003g0067 a0001c0004t0003g0128 a0001c0004t0028g0167 a0001c0004t0029g0159	8	324	0.0247	-95	c.-94 others(114): Show c.-94-12279_-94-12185delCAATTTGTCATGATAATTTCTTTCTT TTTTTTTTTTTTTTTTAAGACTGATTCTCACTCCTCTCTTGCCCAGGCTG GAGTGCAGTGGGGTGATCT	TAOK1	ENSG00000160551.12	transcript	ENST00000261716.8	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBC1D22A_chr22_46757650_47180693	46772376	TGTATACA others(88): Show TGTATACACACATATACATATATATGTATACACACATATACATATATATG TATACACACATATACATATATATGTATACACACATATACATATATA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0070 a0001c0001t0004g0070	1	111	0.0090	-95	c.62+ others(110): Show c.62+9624_62+9718delGTATACACACATATACATATATATGTATAC ACACATATACATATATATGTATACACACATATACATATATATGTATACAC ACATATACATATATA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBC1D22A_chr22_46757650_47180693	47069717	TGGCTGTT others(88): Show TGGCTGTTCCCGGTTGTTTGGTTGGAGCGGAGCTGACCTGACGGTCCTGG CTGTTCCCTATTGTTTGGTTGGAGCAGAGCTGACTTGACGGTTCCC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	1	83	0.0120	-95	c.132 others(116): Show c.1329+32530_1329+32624delGGTTGTTTGGTTGGAGCGGAGCTG ACCTGACGGTCCTGGCTGTTCCCTATTGTTTGGTTGGAGCAGAGCTGACT TGACGGTTCCCGGCTGTTCCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCERG1L_chr10_131087391_131316721	131249316	GCCACCCG others(88): Show GCCACCCGGCTACCCCAGCATAGGGGCTTCCATGGCCCTGGCAGTGGCTC CACCCGGGTCCCCAGTATAGGGGCTTCCACAGCCCTGACAATGGCT	G G	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	322	0.0031	-95	c.856 others(114): Show c.856+10848_856+10942delAGCCATTGTCAGGGCTGTGGAAGCCC CTATACTGGGGACCCGGGTGGAGCCACTGCCAGGGCCATGGAAGCCCCTA TGCTGGGGTAGCCGGGTGG	TCERG1L	ENSG00000176769.9	transcript	ENST00000368642.4	protein_coding	4/11			chr10	TogoVar
TENM2_chr5_166974029_168269157	167974015	GGGAGGGA others(88): Show GGGAGGGAGGAAGGAAGGAAGGAGAAGGAAGGAAGGGAGGAAAGGAGGGA GGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02451.hp2 HG02615.hp1 others(6): Show HG02145.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02818.hp1 HG03130.hp2 HG03453.hp2 HG03516.hp1 NA19043.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0009	a0001c0003 a0001c0023 a0001c0027 others(5): Show a0001c0003 a0001c0023 a0001c0027 a0001c0029 a0003c0034 a0003c0035 a0005c0009 a0009c0033	a0001c0003t0022 a0001c0023t0009 a0001c0027t0002 others(6): Show a0001c0003t0022 a0001c0023t0009 a0001c0027t0002 a0001c0029t0003 a0003c0034t0025 a0003c0035t0001 a0005c0009t0003 a0005c0009t0018 a0009c0033t0012	a0001c0003t0022g0020 a0001c0023t0009g0004 a0001c0027t0002g0031 others(6): Show a0001c0003t0022g0020 a0001c0023t0009g0004 a0001c0027t0002g0031 a0001c0029t0003g0019 a0003c0034t0025g0002 a0003c0035t0001g0039 a0005c0009t0003g0027 a0005c0009t0018g0033 a0009c0033t0012g0046	9	52	0.1731	-95	c.948 others(114): Show c.948-18906_948-18812delGAAGGAAGGAAGGGAGGAAAGGAGGG AGGGAGGGAGGAAGGAAGGAAGGAAGGGAAGGAAGGAAGGGAGGAAAGGA GGGAGGAAGGAAGGAAGGA	TENM2	ENSG00000145934.17	transcript	ENST00000518659.6	protein_coding	6/30		INFO_REALIGN_3_PRIME	chr5	TogoVar
THEMIS_chr6_127703200_127906058	127746744	ATATAATT others(88): Show ATATAATTATATATTATTATATAATTATATTATATATAATTATATATTAT TATATAATTATATTATATATAATTATATATTATTATATAATTATAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02630.hp1 others(4): Show HG01243.hp2 HG01891.hp2 HG02630.hp1 HG02723.hp1 HG02818.hp1 HG02970.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0013 a0001c0002t0003g0009 a0001c0002t0003g0011 others(4): Show a0001c0002t0001g0013 a0001c0002t0003g0009 a0001c0002t0003g0011 a0001c0002t0003g0012 a0001c0002t0003g0014 a0001c0002t0003g0017 a0001c0002t0003g0139	7	222	0.0315	-95	c.175 others(116): Show c.1759-27016_1759-26922delATATAATTATATAATAATATATAA TTATATATAATATAATTATATAATAATATATAATTATATATAATATAATT ATATAATAATATATAATTATA	THEMIS	ENSG00000172673.12	transcript	ENST00000368248.5	protein_coding	4/5			chr6	TogoVar
TMEM129_chr4_1710952_1726323	1720927	GCGGCCGC others(88): Show GCGGCCGCCGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGC CGCCCGGCCGCCCGCGGGGCACTCTAGGACATGGAGTCCCGCCGCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0025 a0002c0005t0014g0025	1	386	0.0026	-95	c.-18 others(103): Show c.-185_-91delGGCGGCGGGACTCCATGTCCTAGAGTGCCCCGCGGGC GGCCGGGCGGCGGGACTCCATGTCCTAGAGTGCCCCGCGGGCGGCCGGGC GGCGGCCG	TMEM129	ENSG00000168936.12	transcript	ENST00000382936.8	protein_coding	1/4	91		chr4	TogoVar
TMPRSS4_chr11_118072078_118126890	118096905	AAGAAAGG others(88): Show AAGAAAGGGAGAGAGAAAGGAAAGAAAGAAAGAGAAAGAAAGAAAGGAAG GAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02165.hp2 HG01943.hp2 HG02165.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0005 a0001c0001t0001 a0005c0006t0005	a0001c0001t0001g0271 a0005c0006t0005g0256 a0001c0001t0001g0271 a0005c0006t0005g0256	2	393	0.0051	-95	c.43+ others(110): Show c.43+2052_44-1984delGAAAGGGAGAGAGAAAGGAAAGAAAGAAAG AGAAAGAAAGAAAGGAAGGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGA	TMPRSS4	ENSG00000137648.19	transcript	ENST00000437212.8	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
TRDN_chr6_123211339_123641950	123227930	GAACATAA others(88): Show GAACATAATCCAAATCTCCTATATCAGGGCCTCTTGAAAGAGTGTTGAAA TTTATCCCATGAATAGTACACCTGCTATGTGCCAGCCACTGTTCTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp1 HG00639.hp1 others(18): Show HG00099.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG01074.hp1 HG01167.hp2 HG01496.hp1 HG02258.hp2 HG02615.hp1 HG02896.hp1 HG03195.hp2 HG03471.hp2 HG03579.hp1 HG03654.hp2 HG03704.hp1 HG03942.hp1 HG04115.hp1 HG04228.hp1 NA18998.hp2 NA20905.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0006 a0008 a0010 a0011 a0012 a0014 a0025 a0027	a0001c0002 a0002c0004 a0002c0005 others(9): Show a0001c0002 a0002c0004 a0002c0005 a0004c0006 a0006c0009 a0008c0008 a0010c0012 a0011c0013 a0012c0035 a0014c0016 a0025c0034 a0027c0024	a0001c0002t0002 a0002c0004t0002 a0002c0005t0002 others(10): Show a0001c0002t0002 a0002c0004t0002 a0002c0005t0002 a0002c0005t0003 a0004c0006t0002 a0006c0009t0002 a0008c0008t0002 a0010c0012t0002 a0011c0013t0002 a0012c0035t0002 a0014c0016t0002 a0025c0034t0002 a0027c0024t0016	a0001c0002t0002g0037 a0001c0002t0002g0121 a0002c0004t0002g0050 others(18): Show a0001c0002t0002g0037 a0001c0002t0002g0121 a0002c0004t0002g0050 a0002c0005t0002g0015 a0002c0005t0002g0056 a0002c0005t0002g0083 a0002c0005t0002g0108 a0002c0005t0002g0112 a0002c0005t0003g0059 a0004c0006t0002g0040 a0006c0009t0002g0061 a0006c0009t0002g0077 a0006c0009t0002g0106 a0008c0008t0002g0013 a0010c0012t0002g0045 a0010c0012t0002g0111 a0011c0013t0002g0069 a0012c0035t0002g0012 a0014c0016t0002g0053 a0025c0034t0002g0122 a0027c0024t0016g0073	21	150	0.1400	-95	c.197 others(114): Show c.1976-3894_1976-3800delTAGAACAGTGGCTGGCACATAGCAGG TGTACTATTCATGGGATAAATTTCAACACTCTTTCAAGAGGCCCTGATAT AGGAGATTTGGATTATGTT	TRDN	ENSG00000186439.15	transcript	ENST00000334268.9	protein_coding	38/40			chr6	TogoVar
TRERF1_chr6_42219931_42456926	42262434	CAGAGAGA others(88): Show CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02523.hp2 HG02698.hp1 others(6): Show HG01192.hp2 HG02523.hp2 HG02698.hp1 HG03486.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA19074.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0010 a0001c0014 a0001c0023	a0001c0001t0001 a0001c0002t0007 a0001c0007t0001 others(3): Show a0001c0001t0001 a0001c0002t0007 a0001c0007t0001 a0001c0010t0001 a0001c0014t0001 a0001c0023t0031	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(6): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0002t0007g0047 a0001c0007t0001g0131 a0001c0010t0001g0157 a0001c0014t0001g0176 a0001c0023t0031g0146	9	57	0.1579	-95	c.188 others(112): Show c.1884+791_1884+885delCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCT	TRERF1	ENSG00000124496.13	transcript	ENST00000695948.1	protein_coding	8/17			chr6	TogoVar
TRIML1_chr4_188134441_188152743	188151634	GAGTGGGG others(88): Show GAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGA GAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGATTGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	226	0.0044	-95	c.42 others(106): Show c.4263_*4357delAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGATTGA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3892		chr4	TogoVar
TRIML1_chr4_188134441_188152743	188151697	GGGGAGTG others(88): Show GGGGAGTGAGAGTGGGGGTGAGAAGGGGATTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	224	0.0045	-95	c.43 others(106): Show c.4326_*4420delGGGAGTGAGAGTGGGGGTGAGAAGGGGATTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGA GGGGTTGAGAA	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		3955		chr4	TogoVar
TSSK4_chr14_24200696_24213248	24212114	GCAGAGTT others(88): Show GCAGAGTTTCAGTCTTGTTGCCCAGGCTGGAACGCAATGGCGTGATCTCA GCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	426	0.0023	-95	c.39 others(106): Show c.3969_*4063delCAGAGTTTCAGTCTTGTTGCCCAGGCTGGAACGC AATGGCGTGATCTCAGCTCACCTCAACCTCCGCCTCCTGGGTTCAAGCAA TTCTCCTGCCT	TSSK4	ENSG00000139908.15	transcript	ENST00000339917.10	protein_coding		3867		chr14	TogoVar
TTF1_chr9_132370548_132411840	132377346	GTGCATGT others(88): Show GTGCATGTGGTGTGTGTGAGTGCATGTGGTGTGTGTGAGTGCATGTGGTG TGAGTGCATGTGGTGTGTGTGAGTGCATGCATGTGGTGTGAGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0001 a0012c0017t0001	a0012c0017t0001g0159 a0012c0017t0001g0159	1	398	0.0025	-95	c.246 others(114): Show c.2465-1273_2465-1179delTGCACTCACACCACATGCATGCACTC ACACACACCACATGCACTCACACCACATGCACTCACACACACCACATGCA CTCACACACACCACATGCA	TTF1	ENSG00000125482.13	transcript	ENST00000334270.3	protein_coding	10/10			chr9	TogoVar
TWIST2_chr2_238843085_238915534	238881070	GTGTCAGC others(88): Show GTGTCAGCATTAGTATTAGTGTGTTAGTATTGGTATTAGTGTTAGTGTTA GTATTTATTAGTATTAGTATTACTGTTAGTATTAGTATTAGTGTTA	G G	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	336	0.0030	-95	c.36 others(114): Show c.36-28768_*36-28674delCAGCATTAGTATTAGTGTGTTAGTAT TGGTATTAGTGTTAGTGTTAGTATTTATTAGTATTAGTATTACTGTTAGT ATTAGTATTAGTGTTATGT	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR2_chr6_42559029_42698505	42664096	CTTTGATC others(88): Show CTTTGATCATGCCATTGCACTTCAGCCTGAGTGACAGAGCAAGACCCTGT CTCAAAAATAAAATAAGTGCTTGCTTCAGCAGCACATATACTAAAA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0011 a0003c0008t0011	a0003c0008t0011g0341 a0003c0008t0011g0341	1	340	0.0029	-95	c.369 others(112): Show c.3698+680_3698+774delTGATCATGCCATTGCACTTCAGCCTGAG TGACAGAGCAAGACCCTGTCTCAAAAATAAAATAAGTGCTTGCTTCAGCA GCACATATACTAAAATT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	32/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UMPS_chr3_124725452_124754273	124750175	TCACCTCC others(88): Show TCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGATGGGGCAGCTGGCCAGGCGGGGGGCTGACCCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00323.hp1 others(85): Show HG00140.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp2 HG01070.hp1 HG01081.hp2 HG01109.hp1 HG01168.hp1 HG01243.hp1 HG01255.hp2 HG01433.hp1 HG01433.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01952.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02080.hp2 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02896.hp1 HG03041.hp1 HG03209.hp1 HG03927.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp1 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18966.hp1 NA18968.hp1 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18981.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19000.hp2 NA19012.hp1 NA19055.hp2 NA19057.hp1 NA19062.hp2 NA19063.hp1 NA19070.hp1 NA19072.hp1 NA19076.hp2 NA19077.hp1 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA20300.hp2 NA20905.hp2	a0002 a0002	a0002c0002 a0002c0005 a0002c0006 others(1): Show a0002c0002 a0002c0005 a0002c0006 a0002c0007	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(17): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0025 a0002c0002t0030 a0002c0002t0031 a0002c0002t0043 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0092 a0002c0002t0096 a0002c0005t0010 a0002c0005t0030 a0002c0005t0087 a0002c0005t0091 a0002c0006t0093 a0002c0006t0094 a0002c0006t0095 a0002c0007t0002	a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 others(42): Show a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0027 a0002c0002t0002g0034 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0089 a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0110 a0002c0002t0009g0003 a0002c0002t0009g0014 a0002c0002t0009g0097 a0002c0002t0009g0103 a0002c0002t0010g0003 a0002c0002t0010g0020 a0002c0002t0010g0088 a0002c0002t0010g0090 a0002c0002t0025g0013 a0002c0002t0025g0039 a0002c0002t0025g0095 a0002c0002t0030g0003 a0002c0002t0031g0013 a0002c0002t0043g0013 a0002c0002t0043g0094 a0002c0002t0088g0105 a0002c0002t0089g0003 a0002c0002t0090g0013 a0002c0002t0092g0034 a0002c0002t0096g0101 a0002c0005t0010g0044 a0002c0005t0030g0043 a0002c0005t0087g0041 a0002c0005t0091g0042 a0002c0006t0093g0109 a0002c0006t0094g0087 a0002c0006t0095g0108 a0002c0007t0002g0003 a0002c0007t0002g0098	88	432	0.2037	-95	c.60 others(106): Show c.6092_*6186delCACCTCCCGGATGGGGCGGCTGGCCCGGCGGGGG GCTGACCCCCCCACCTCCCTCCCGGATGGGGCAGCTGGCCAGGCGGGGGG CTGACCCCCCC	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		903		chr3	TogoVar
UMPS_chr3_124725452_124754273	124750352	TCACCTCC others(88): Show TCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCAC CTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0020 a0002c0002t0010g0020	1	432	0.0023	-95	c.62 others(106): Show c.6269_*6363delCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGG GCTGACCCCCC	UMPS	ENSG00000114491.14	transcript	ENST00000232607.7	protein_coding		1080		chr3	TogoVar
UNC13C_chr15_53973441_54633605	54587114	AATTAGGT others(88): Show AATTAGGTTTCAACTTAGATTTCAATTTCAAACTGTTGTGTCATGTTGAT TTTACACAAATACTTATAAGGTGAAATGACAGAATTTTATGAAATT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0106 a0001c0001t0006g0106	1	156	0.0064	-95	c.610 others(116): Show c.6106+19230_6106+19324delTTATAAGGTGAAATGACAGAATTT TATGAAATTATTAGGTTTCAACTTAGATTTCAATTTCAAACTGTTGTGTC ATGTTGATTTTACACAAATAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	30/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UROC1_chr3_126476166_126522773	126515538	GCCCAGCA others(88): Show GCCCAGCACCCACCACCTACCCCCTTCCACTCCCCAGCACCCACCACCTA CCCTCCTCCCATCTGCCCAGCACCCACCACCTACCATCCCCCAACC	G G	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0303 a0001c0001t0002g0303	1	373	0.0027	-95	c.126 others(112): Show c.126+1961_126+2055delGGTTGGGGGATGGTAGGTGGTGGGTGCT GGGCAGATGGGAGGAGGGTAGGTGGTGGGTGCTGGGGAGTGGAAGGGGGT AGGTGGTGGGTGCTGGG	UROC1	ENSG00000159650.9	transcript	ENST00000290868.7	protein_coding	1/19			chr3	TogoVar
VAPA_chr18_9909016_9965021	9923253	TTTTTAAG others(88): Show TTTTTAAGGAAATGATTAGATTGAATTACCGTTAAAAAGTAGGGATGTTA ATTAAAAAAGAATTGTTGCTATGAGAGGACTTTTAAACTTTTAGCA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(380): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(110): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0002t0005 a0001c0002t0014 a0001c0002t0038 a0001c0002t0093 a0001c0002t0094 a0001c0002t0103 a0001c0003t0004 a0001c0003t0021 a0001c0004t0105 a0001c0004t0106 a0001c0004t0108 a0001c0006t0044 a0002c0005t0067 a0002c0005t0068	a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0024 others(342): Show a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0234 a0001c0001t0001g0245 a0001c0001t0001g0251 a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0018 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0101 a0001c0001t0002g0106 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0188 a0001c0001t0002g0219 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0250 a0001c0001t0003g0017 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0110 a0001c0001t0003g0130 a0001c0001t0003g0131 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0142 a0001c0001t0003g0148 a0001c0001t0003g0161 a0001c0001t0003g0162 a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0165 a0001c0001t0003g0166 a0001c0001t0003g0167 a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0004g0009 a0001c0001t0004g0087 a0001c0001t0004g0256 a0001c0001t0004g0285 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0308 a0001c0001t0005g0002 a0001c0001t0005g0005 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0236 a0001c0001t0005g0237 a0001c0001t0005g0238 a0001c0001t0005g0239 a0001c0001t0005g0242 a0001c0001t0006g0003 a0001c0001t0006g0013 a0001c0001t0006g0015 a0001c0001t0006g0049 a0001c0001t0006g0067 a0001c0001t0006g0071 a0001c0001t0006g0075 a0001c0001t0006g0086 a0001c0001t0006g0091 a0001c0001t0006g0093 a0001c0001t0006g0216 a0001c0001t0006g0220 a0001c0001t0006g0241 a0001c0001t0006g0252 a0001c0001t0007g0060 a0001c0001t0007g0061 a0001c0001t0007g0063 a0001c0001t0007g0077 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0007g0080 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0083 a0001c0001t0007g0183 a0001c0001t0007g0184 a0001c0001t0008g0048 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0008g0076 a0001c0001t0008g0129 a0001c0001t0008g0174 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0187 a0001c0001t0008g0194 a0001c0001t0008g0206 a0001c0001t0008g0244 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0309 a0001c0001t0009g0310 a0001c0001t0009g0311 a0001c0001t0010g0124 a0001c0001t0010g0128 a0001c0001t0010g0141 a0001c0001t0010g0193 a0001c0001t0010g0197 a0001c0001t0010g0214 a0001c0001t0010g0249 a0001c0001t0011g0029 a0001c0001t0011g0275 a0001c0001t0011g0276 a0001c0001t0011g0277 a0001c0001t0011g0279 a0001c0001t0011g0280 a0001c0001t0012g0001 a0001c0001t0012g0004 a0001c0001t0012g0092 a0001c0001t0012g0102 a0001c0001t0012g0111 a0001c0001t0012g0254 a0001c0001t0013g0001 a0001c0001t0013g0155 a0001c0001t0013g0157 a0001c0001t0013g0159 a0001c0001t0013g0173 a0001c0001t0013g0176 a0001c0001t0015g0001 a0001c0001t0015g0104 a0001c0001t0015g0107 a0001c0001t0015g0203 a0001c0001t0016g0196 a0001c0001t0016g0198 a0001c0001t0016g0199 a0001c0001t0016g0212 a0001c0001t0017g0059 a0001c0001t0017g0062 a0001c0001t0017g0064 a0001c0001t0017g0084 a0001c0001t0018g0303 a0001c0001t0018g0304 a0001c0001t0018g0312 a0001c0001t0018g0313 a0001c0001t0019g0098 a0001c0001t0019g0105 a0001c0001t0019g0115 a0001c0001t0019g0122 a0001c0001t0020g0150 a0001c0001t0020g0151 a0001c0001t0020g0158 a0001c0001t0021g0293 a0001c0001t0021g0300 a0001c0001t0022g0021 a0001c0001t0022g0160 a0001c0001t0023g0090 a0001c0001t0023g0095 a0001c0001t0023g0186 a0001c0001t0024g0031 a0001c0001t0024g0324 a0001c0001t0024g0328 a0001c0001t0025g0326 a0001c0001t0025g0329 a0001c0001t0025g0331 a0001c0001t0026g0085 a0001c0001t0026g0221 a0001c0001t0027g0259 a0001c0001t0027g0260 a0001c0001t0028g0225 a0001c0001t0028g0235 a0001c0001t0029g0037 a0001c0001t0029g0040 a0001c0001t0030g0035 a0001c0001t0030g0039 a0001c0001t0031g0043 a0001c0001t0031g0045 a0001c0001t0032g0263 a0001c0001t0032g0265 a0001c0001t0033g0030 a0001c0001t0033g0257 a0001c0001t0034g0010 a0001c0001t0034g0156 a0001c0001t0035g0099 a0001c0001t0035g0114 a0001c0001t0036g0138 a0001c0001t0036g0139 a0001c0001t0037g0137 a0001c0001t0037g0149 a0001c0001t0039g0321 a0001c0001t0039g0327 a0001c0001t0040g0032 a0001c0001t0041g0317 a0001c0001t0041g0325 a0001c0001t0042g0320 a0001c0001t0042g0323 a0001c0001t0043g0031 a0001c0001t0043g0033 a0001c0001t0045g0215 a0001c0001t0046g0278 a0001c0001t0047g0152 a0001c0001t0048g0154 a0001c0001t0049g0153 a0001c0001t0050g0168 a0001c0001t0051g0261 a0001c0001t0052g0262 a0001c0001t0053g0008 a0001c0001t0054g0222 a0001c0001t0055g0140 a0001c0001t0056g0100 a0001c0001t0057g0121 a0001c0001t0058g0036 a0001c0001t0059g0041 a0001c0001t0060g0038 a0001c0001t0061g0042 a0001c0001t0062g0172 a0001c0001t0063g0182 a0001c0001t0064g0191 a0001c0001t0065g0135 a0001c0001t0066g0228 a0001c0001t0069g0136 a0001c0001t0070g0264 a0001c0001t0071g0120 a0001c0001t0072g0294 a0001c0001t0073g0286 a0001c0001t0074g0298 a0001c0001t0075g0292 a0001c0001t0076g0284 a0001c0001t0077g0044 a0001c0001t0078g0034 a0001c0001t0079g0001 a0001c0001t0080g0015 a0001c0001t0081g0052 a0001c0001t0082g0030 a0001c0001t0083g0171 a0001c0001t0084g0302 a0001c0001t0085g0055 a0001c0001t0086g0210 a0001c0001t0087g0096 a0001c0001t0088g0209 a0001c0001t0089g0016 a0001c0001t0090g0088 a0001c0001t0091g0258 a0001c0001t0092g0103 a0001c0001t0095g0322 a0001c0001t0096g0072 a0001c0001t0097g0033 a0001c0001t0098g0002 a0001c0001t0099g0318 a0001c0001t0100g0319 a0001c0001t0101g0330 a0001c0001t0102g0123 a0001c0001t0104g0332 a0001c0001t0107g0145 a0001c0001t0109g0028 a0001c0001t0110g0028 a0001c0002t0005g0274 a0001c0002t0005g0305 a0001c0002t0005g0306 a0001c0002t0014g0270 a0001c0002t0014g0271 a0001c0002t0014g0272 a0001c0002t0014g0273 a0001c0002t0014g0307 a0001c0002t0014g0316 a0001c0002t0038g0267 a0001c0002t0038g0268 a0001c0002t0093g0266 a0001c0002t0094g0269 a0001c0002t0103g0333 a0001c0003t0004g0281 a0001c0003t0004g0282 a0001c0003t0021g0283 a0001c0004t0105g0255 a0001c0004t0106g0253 a0001c0004t0108g0189 a0001c0006t0044g0047 a0002c0005t0067g0314 a0002c0005t0068g0315	383	384	0.9974	-95	c.80- others(110): Show c.80-8469_80-8375delTTTTAGCATTTTAAGGAAATGATTAGATTG AATTACCGTTAAAAAGTAGGGATGTTAATTAAAAAAGAATTGTTGCTATG AGAGGACTTTTAAAC	VAPA	ENSG00000101558.14	transcript	ENST00000400000.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr18	TogoVar
VIPR2_chr7_159023175_159149867	159063746	ATCTGGGG others(88): Show ATCTGGGGGACCTGGCGGGGTCTGGGAGTCCAGGTGGGGTCTGGGGGTCC TGGTGGGGTCCGGGGGTCCTGGTGGGGTCCGGGGGTCCTGGTGGGG	A A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01934.hp1 HG02257.hp2 others(4): Show HG01884.hp2 HG01934.hp1 HG02257.hp2 HG02280.hp2 HG02572.hp1 HG03453.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0013 a0001c0005t0019 a0001c0005t0022 others(1): Show a0001c0005t0013 a0001c0005t0019 a0001c0005t0022 a0001c0005t0028	a0001c0005t0013g0313 a0001c0005t0019g0327 a0001c0005t0019g0328 others(4): Show a0001c0005t0013g0313 a0001c0005t0019g0327 a0001c0005t0019g0328 a0001c0005t0019g0330 a0001c0005t0022g0226 a0001c0005t0022g0285 a0001c0005t0028g0297	7	334	0.0210	-95	c.358 others(112): Show c.358-5263_358-5169delCCCCACCAGGACCCCCGGACCCCACCAG GACCCCCGGACCCCACCAGGACCCCCAGACCCCACCTGGACTCCCAGACC CCGCCAGGTCCCCCAGA	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
WDSUB1_chr2_159230798_159291703	159283568	CTAGAGTT others(88): Show CTAGAGTTCTAGAAAATAGAGTATTTTCTATTCTAATAAACTATCTTAGC TGTTCCCTTCACAGGATGGAGCCAAGGCTATCTGCTCCGCCTTCAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(44): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp2 HG01515.hp2 HG01516.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02717.hp2 HG02886.hp1 HG02965.hp1 HG03239.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG04199.hp2 NA18522.hp2 NA18941.hp2 NA18983.hp1 NA18995.hp1 NA19043.hp1 NA19063.hp1 NA19079.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0007 a0004c0005 a0002c0002 a0002c0007 a0004c0005	a0002c0002t0002 a0002c0007t0002 a0004c0005t0002 a0002c0002t0002 a0002c0007t0002 a0004c0005t0002	a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0013 others(38): Show a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0041 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0055 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0007t0002g0073 a0002c0007t0002g0074 a0002c0007t0002g0075 a0002c0007t0002g0076 a0002c0007t0002g0077 a0002c0007t0002g0078 a0004c0005t0002g0011 a0004c0005t0002g0043 a0004c0005t0002g0044 a0004c0005t0002g0045 a0004c0005t0002g0046 a0004c0005t0002g0047 a0004c0005t0002g0048	47	248	0.1895	-95	c.-24 others(110): Show c.-24-570_-24-476delTTGAAGGCGGAGCAGATAGCCTTGGCTCCA TCCTGTGAAGGGAACAGCTAAGATAGTTTATTAGAATAGAAAATACTCTA TTTTCTAGAACTCTA	WDSUB1	ENSG00000196151.11	transcript	ENST00000359774.9	protein_coding	1/10			chr2	TogoVar
WFDC10B_chr20_45679651_45710019	45682305	GAGAGTCA others(88): Show GAGAGTCAGGAGTCTCCTATTTCACCATGTTGCTGATGTCATCTAAGGGT AAGCCTTTAGGCTTGGCAACAATGACTTCTGGATAGGAGACTTCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0081 a0002c0002t0001g0081	1	438	0.0023	-95	c.24 others(106): Show c.2430_*2524delGGGAAGTCTCCTATCCAGAAGTCATTGTTGCCAA GCCTAAAGGCTTACCCTTAGATGACATCAGCAACATGGTGAAATAGGAGA CTCCTGACTCT	WFDC10B	ENSG00000182931.10	transcript	ENST00000330523.10	protein_coding		2345		chr20	TogoVar
ZC3H12B_chrX_65029826_65512887	65287093	TCCCAACA others(88): Show TCCCAACACCCCACTCCCAGAATTAGACAGATTATCTAGACAGAACATCA ATAAGAAAAAAATCAGATTTAAACTGCACTTTTGGCCAAGTGAACC	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	165	0.0061	-95	c.-56 others(116): Show c.-567-79544_-567-79450delCCCAACACCCCACTCCCAGAATTA GACAGATTATCTAGACAGAACATCAATAAGAAAAAAATCAGATTTAAACT GCACTTTTGGCCAAGTGAACC	ZC3H12B	ENSG00000102053.13	transcript	ENST00000338957.5	protein_coding	2/9			chrX	TogoVar
ZDHHC4_chr7_6572454_6594374	6577128	AAAATAAA others(88): Show AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATA AAATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00323.hp2 others(49): Show HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp2 HG01167.hp2 HG01255.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01361.hp2 HG01516.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02145.hp1 HG02293.hp1 HG02486.hp2 HG02895.hp1 HG02897.hp2 HG03017.hp1 HG03669.hp2 HG03831.hp1 HG03834.hp2 HG04199.hp2 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18960.hp2 NA18962.hp2 NA18969.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA19056.hp1 NA19064.hp2 NA19066.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp2 NA19091.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0060 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0098 a0001c0001t0006g0031 a0001c0001t0008g0003 a0002c0002t0001g0001	52	406	0.1281	-95	c.-53 others(104): Show c.-532_-438delAAATAAAATAAAATAAAATAAAATAAAATAAAATAA AATAAATAAAATAAAATAAATAAAATAAAATAAATAAAATAAAATAAATA AAATAAAAT	ZDHHC4	ENSG00000136247.15	transcript	ENST00000335965.11	protein_coding		325		chr7	TogoVar
ZFPM2_chr8_105313438_105809539	105533864	TCTCCCTC others(88): Show TCTCCCTCCCTCCCTTCTTTCCTTCCTTCCTTTCTTCCTACCTCCTTCCC TCCCTTCTTCCTTTCTCCCTCCCTCCCTTCCTTCTTTCCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02040.hp2 HG02809.hp1 others(4): Show HG01884.hp1 HG02040.hp2 HG02809.hp1 HG03688.hp1 NA18945.hp2 NA18957.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0002t0001 a0003c0004t0004	a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 others(4): Show a0001c0001t0001g0064 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0005g0049 a0002c0002t0001g0068 a0002c0002t0001g0075 a0003c0004t0004g0039	7	59	0.1186	-95	c.302 others(114): Show c.302-27487_302-27393delCCTTCTTTCCTTCCTTCCTTTCTTCC TACCTCCTTCCCTCCCTTCTTCCTTTCTCCCTCCCTCCCTTCCTTCTTTC CTTCCTCCCTCCCTCCCTC	ZFPM2	ENSG00000169946.14	transcript	ENST00000407775.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
ZMAT4_chr8_40525590_40902826	40601610	GAAAGAAA others(88): Show GAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00735.hp1 HG02056.hp1 others(14): Show HG00280.hp2 HG00735.hp1 HG02056.hp1 HG02056.hp2 HG02165.hp1 HG02615.hp1 HG02717.hp2 HG02723.hp1 HG03130.hp2 HG03225.hp2 HG03579.hp1 HG03710.hp2 HG04115.hp2 NA18906.hp2 NA18983.hp1 NA20129.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0003t0001 a0002c0002t0003	a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0031 others(14): Show a0001c0001t0001g0006 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0001g0129 a0001c0001t0001g0185 a0001c0001t0001g0210 a0001c0001t0001g0213 a0001c0001t0002g0040 a0001c0001t0002g0091 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0133 a0001c0001t0015g0228 a0001c0003t0001g0004 a0002c0002t0003g0111	17	225	0.0756	-95	c.578 others(114): Show c.578-20444_578-20350delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTCTTTC TTTCTTTCTTTCTTTCTTT	ZMAT4	ENSG00000165061.15	transcript	ENST00000297737.11	protein_coding	5/6			chr8	TogoVar
ZNF717_chr3_75730868_75790549	75753633	GTCTGAAT others(88): Show GTCTGAATGTTTGTCCCTCACATAGGATTCCAGAACACTCCTGCTGGGGT CTGAATGTTTGTCCCTCACATAAGATTCCAGAACACTGCTGTGTGA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0164 a0001c0011t0001g0164	1	358	0.0028	-95	c.58- others(112): Show c.58-11992_58-11898delTCACACAGCAGTGTTCTGGAATCTTATG TGAGGGACAAACATTCAGACCCCAGCAGGAGTGTTCTGGAATCCTATGTG AGGGACAAACATTCAGA	ZNF717	ENSG00000227124.11	transcript	ENST00000652011.2	protein_coding	2/4			chr3	TogoVar
AAK1_chr2_69452997_69648739	69565828	CACTATTC others(87): Show CACTATTCAGGTGGCAGAGTGTCCTCTCCACAGTGAGAGCTTGCGTACAC TATGCAGGTGGCAGAGTGTCCTCTCCACGGTGAGAGCTTGGGTGG	C C	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0224 a0002c0002t0004g0224	1	296	0.0034	-94	c.164 others(111): Show c.164-8944_164-8851delCCACCCAAGCTCTCACCGTGGAGAGGAC ACTCTGCCACCTGCATAGTGTACGCAAGCTCTCACTGTGGAGAGGACACT CTGCCACCTGAATAGT	AAK1	ENSG00000115977.21	transcript	ENST00000409085.9	protein_coding	2/21			chr2	TogoVar
ACAA2_chr18_49777164_49818533	49800101	AGGCCAGC others(87): Show AGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCGGCCGGC CAGCCACCCCGTCTGGGAGGGAGGTGGGGGGTCAGCCCCCCGCCC	A A	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0315 a0001c0001t0005g0315	1	432	0.0023	-94	c.183 others(111): Show c.183+2492_184-2508delGGGCGGGGGGCTGACCCCCCACCTCCCT CCCAGACGGGGTGGCTGGCCGGCCGGGGGCTGACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCC	ACAA2	ENSG00000167315.18	transcript	ENST00000285093.15	protein_coding	2/9			chr18	TogoVar
ACACB_chr12_109111587_109273226	109194516	GTGTGTGT others(87): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTACATTGGCCTCCCA AAGTGCTGGGATTACAGTCATGAGCCACCCCCTGGCCTCTGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03490.hp1 HG03492.hp2 others(4): Show HG01192.hp1 HG03490.hp1 HG03492.hp2 HG03710.hp1 NA18995.hp1 NA19080.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0048 a0002c0014 others(1): Show a0001c0002 a0001c0048 a0002c0014 a0002c0036	a0001c0002t0001 a0001c0048t0002 a0002c0014t0003 others(1): Show a0001c0002t0001 a0001c0048t0002 a0002c0014t0003 a0002c0036t0003	a0001c0002t0001g0002 a0001c0002t0001g0110 a0001c0048t0002g0279 others(4): Show a0001c0002t0001g0002 a0001c0002t0001g0110 a0001c0048t0002g0279 a0002c0014t0003g0101 a0002c0014t0003g0113 a0002c0014t0003g0301 a0002c0036t0003g0162	7	306	0.0229	-94	c.248 others(111): Show c.2481+821_2481+914delTTACATTGGCCTCCCAAAGTGCTGGGAT TACAGTCATGAGCCACCCCCTGGCCTCTGCCTCTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGT	ACACB	ENSG00000076555.16	transcript	ENST00000338432.12	protein_coding	16/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ACAP3_chr1_1287391_1312930	1288261	GTCTCTGC others(87): Show GTCTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 NA19067.hp2 HG02015.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0001 a0001c0021t0001 a0001c0001t0001 a0001c0021t0001	a0001c0001t0001g0012 a0001c0021t0001g0083 a0001c0001t0001g0012 a0001c0021t0001g0083	2	281	0.0071	-94	c.52 others(105): Show c.5209_*5302delGACACGGGGGACGGGGCAGAGACACGGGACGGAG CAGGGACACGGGACGGAGCAGACACGGGACGGAGCAGAGACTCGGGGGAC GGAGCAGAGA	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4129		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288724	TGTCTCTG others(87): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	290	0.0034	-94	c.47 others(105): Show c.4746_*4839delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3666		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1288854	TGTCTCTG others(87): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0210 a0001c0001t0001g0210	1	289	0.0035	-94	c.46 others(105): Show c.4616_*4709delTCGGGGGACGGAACAGGGACACGGGGGACGGAGC AGAGACACGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACG GAGCAGAGAC	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3536		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289017	CCGTGTCC others(87): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGC TCCGTCCCCCGAGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG02258.hp2 HG01346.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0006 a0001c0001t0001g0051	2	294	0.0068	-94	c.44 others(105): Show c.4453_*4546delACGGAGCAGGGACACGGGGGACGGAGCAGAGACT CGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACTCGGGGGACGGAG CAGGGACACG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3373		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289243	TCCCGTGT others(87): Show TCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCT GCCCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	257	0.0039	-94	c.42 others(105): Show c.4227_*4320delGGACGGAGCAGGGACACGGGACGGGGCAGAGACA CGGGACGGGGCAGGGACACGGGACGGAGCAGGGACACGGGGGACGGAGCA GAGACACGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		3147		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289458	TCTCTGCC others(87): Show TCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0212 a0001c0001t0005g0212	1	292	0.0034	-94	c.40 others(105): Show c.4012_*4105delGGACACGGGACGGAGCAGGGACACGGGACGGAGC AGACACGGGGGACGGAGCAGAGACACGGGACGGAGCAGAGACACGGGGGA CGGGGCAGAG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2932		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1290126	TCCCCCGT others(87): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCT GCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCCCGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	188	0.0053	-94	c.33 others(105): Show c.3344_*3437delGGACGGGGCAGAGACACGGGACGGAGCAGGGACA CGGGACGGAGCAGGGACACGGGACGGAGCAGAGACACGGGACGGAGCAGA GACACGGGGG	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2264		chr1	TogoVar
ADAM9_chr8_38991973_39110261	39045061	CATACATA others(87): Show CATACATACATATGTGTGTGTGCATACATACATATGTGTGTGTGCATACA TACATATGTGTGTGTGCATACATACATATATGTGTATATATGTGT	C C	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	330	0.0030	-94	c.130 others(113): Show c.1302+2957_1302+3050delGTGTGTGTGCATACATACATATGTGT GTGTGCATACATACATATGTGTGTGTGCATACATACATATATGTGTATAT ATGTGTATACATACATAT	ADAM9	ENSG00000168615.13	transcript	ENST00000487273.7	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADARB2_chr10_1172313_1742525	1237978	CTCCCGGT others(87): Show CTCCCGGTGTTTACTCCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCTGCA	C C	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18984.hp1 NA18995.hp1 HG02735.hp2 NA18984.hp1 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0001c0001t0054 a0002c0002t0002 a0001c0001t0003 a0001c0001t0054 a0002c0002t0002	a0001c0001t0003g0085 a0001c0001t0054g0083 a0002c0002t0002g0066 a0001c0001t0003g0085 a0001c0001t0054g0083 a0002c0002t0002g0066	3	102	0.0294	-94	c.136 others(113): Show c.1361+4059_1362-4134delTGCAGGGAGTAAACACCGGGAGGCAG AGGGGAGTAAACACCGGGAGGGAGAGGGGAGTAAACACCGGGAGGCAGGG GGGGAGTAAACACCGGGA	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1238895	CCCTGCAT others(87): Show CCCTGCATCCCGGTGTTTACTCCCCTCTCCCTCCCTCTGGCGATACTCCC CTCTCCCTCCCGGTGTTTACTCCCCTCTTCCTCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0042 a0002c0002t0042	a0002c0002t0042g0061 a0002c0002t0042g0061	1	101	0.0099	-94	c.136 others(113): Show c.1361+3142_1361+3235delAGTAAACACCGGGAGGAAGAGGGGAG TAAACACCGGGAGGGAGAGGGGAGTATCGCCAGAGGGAGGGAGAGGGGAG TAAACACCGGGATGCAGG	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
ADD1_chr4_2838844_2935062	2870400	TAGTGCTG others(87): Show TAGTGCTGTTCAGTCAGGATTTTCTTCAATGCCATTTAGCAAACCAACTG TCCTTAGTCTGTCCAGCTAGCAAGAATTTGTATAATGCAACAGAG	T T	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03942.hp1 HG03669.hp1 HG03942.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0176 a0002c0002t0001g0166 a0002c0002t0001g0176	2	318	0.0063	-94	c.-20 others(111): Show c.-20-5401_-20-5308delAGTGCTGTTCAGTCAGGATTTTCTTCAA TGCCATTTAGCAAACCAACTGTCCTTAGTCTGTCCAGCTAGCAAGAATTT GTATAATGCAACAGAG	ADD1	ENSG00000087274.19	transcript	ENST00000683351.1	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRB1_chr8_142444649_142550007	142483298	ACTGAGCC others(87): Show ACTGAGCCCTGACACTGGTCACATGCTGAACCCTGACCCTGGTCACACTG AGCCCTGACCCTGGTCACACGCTGAGCCCTGACCCTGGTCACACC	A A	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00597.hp1 others(102): Show HG00423.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp1 HG01517.hp1 HG01928.hp1 HG01943.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02809.hp2 HG02886.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18966.hp2 NA18967.hp1 NA18974.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA19005.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19057.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0009 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(18): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0013 a0001c0016 a0001c0017 a0001c0018 a0001c0030 a0001c0032 a0002c0005 a0002c0020 a0003c0009 a0004c0012 a0006c0041 a0009c0039 a0010c0031 a0011c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0006t0001 a0001c0006t0004 a0001c0007t0001 a0001c0007t0003 a0001c0007t0007 a0001c0010t0004 a0001c0013t0003 a0001c0016t0001 a0001c0017t0001 a0001c0018t0003 a0001c0030t0001 a0001c0032t0008 a0002c0005t0001 a0002c0005t0002 a0002c0005t0005 a0002c0020t0002 a0003c0009t0002 a0004c0012t0001 a0006c0041t0002 a0009c0039t0003 a0010c0031t0002 a0011c0040t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0060 others(100): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0060 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0121 a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0237 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0273 a0001c0001t0001g0277 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0292 a0001c0001t0001g0297 a0001c0001t0002g0031 a0001c0001t0002g0055 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0204 a0001c0001t0002g0282 a0001c0001t0003g0089 a0001c0001t0005g0106 a0001c0001t0005g0107 a0001c0001t0005g0203 a0001c0001t0009g0202 a0001c0002t0001g0048 a0001c0002t0002g0016 a0001c0002t0002g0029 a0001c0002t0002g0261 a0001c0003t0001g0056 a0001c0003t0001g0070 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0135 a0001c0003t0001g0150 a0001c0003t0002g0102 a0001c0003t0003g0027 a0001c0003t0003g0095 a0001c0003t0003g0131 a0001c0003t0003g0137 a0001c0004t0001g0039 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0291 a0001c0006t0001g0053 a0001c0006t0001g0287 a0001c0006t0001g0288 a0001c0006t0001g0289 a0001c0006t0001g0290 a0001c0006t0004g0242 a0001c0007t0001g0133 a0001c0007t0001g0252 a0001c0007t0003g0275 a0001c0007t0007g0239 a0001c0010t0004g0243 a0001c0010t0004g0286 a0001c0013t0003g0050 a0001c0016t0001g0272 a0001c0017t0001g0009 a0001c0018t0003g0008 a0001c0018t0003g0010 a0001c0030t0001g0262 a0001c0032t0008g0201 a0002c0005t0001g0017 a0002c0005t0001g0019 a0002c0005t0001g0020 a0002c0005t0001g0023 a0002c0005t0002g0021 a0002c0005t0002g0022 a0002c0005t0002g0100 a0002c0005t0005g0244 a0002c0020t0002g0054 a0003c0009t0002g0007 a0003c0009t0002g0293 a0003c0009t0002g0295 a0003c0009t0002g0296 a0004c0012t0001g0109 a0004c0012t0001g0115 a0006c0041t0002g0090 a0009c0039t0003g0236 a0010c0031t0002g0141 a0011c0040t0001g0265	105	308	0.3409	-94	c.213 others(111): Show c.2131-650_2131-557delACCCTGACCCTGGTCACACTGAGCCCTG ACCCTGGTCACACGCTGAGCCCTGACCCTGGTCACACCCTGAGCCCTGAC ACTGGTCACATGCTGA	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	11/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADGRB1_chr8_142444649_142550007	142500314	GCGCCGCT others(87): Show GCGCCGCTCCTCCCCCGCCCCCCGCGCCGCTCCTCCCCCGCCCCCCGCGC CTTTCCTCCCCTGCCCCCCGCGCCGCTCCTCCCCCGCCCCCTACA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01168.hp1 HG01169.hp2 others(2): Show HG00735.hp2 HG01168.hp1 HG01169.hp2 HG01361.hp2 HG01928.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0006 others(1): Show a0001c0001 a0001c0002 a0001c0006 a0006c0041	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0006c0041t0002	a0001c0001t0001g0257 a0001c0001t0002g0078 a0001c0002t0001g0048 others(2): Show a0001c0001t0001g0257 a0001c0001t0002g0078 a0001c0002t0001g0048 a0001c0006t0001g0053 a0006c0041t0002g0090	5	305	0.0164	-94	c.267 others(113): Show c.2675+9501_2675+9594delGCCGCTCCTCCCCCGCCCCCCGCGCC GCTCCTCCCCCGCCCCCCGCGCCTTTCCTCCCCTGCCCCCCGCGCCGCTC CTCCCCCGCCCCCTACAC	ADGRB1	ENSG00000181790.13	transcript	ENST00000517894.6	protein_coding	17/30		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADIRF_chr10_86963482_86975915	86974216	GAGCTTAT others(87): Show GAGCTTATACTGCCCAGGCCTGTCTCCACCAGGTTCATGGAGCAAGTACA GCCCAGACTGGCTGAGGAGGAAGGATTGTGGCCACACTACACCTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	406	0.0025	-94	c.36 others(105): Show c.3635_*3728delAGCTTATACTGCCCAGGCCTGTCTCCACCAGGTT CATGGAGCAAGTACAGCCCAGACTGGCTGAGGAGGAAGGATTGTGGCCAC ACTACACCTA	ADIRF	ENSG00000148671.14	transcript	ENST00000372013.8	protein_coding		3302		chr10	TogoVar
AGGF1_chr5_77025404_77070234	77042494	ACCCCCCC others(87): Show ACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTGACC	A A	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02293.hp1 HG01993.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0097 a0001c0001t0004g0101 a0001c0001t0004g0097 a0001c0001t0004g0101	2	112	0.0179	-94	c.870 others(111): Show c.870+2783_870+2876delCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGG GGGCTGACCCCCCCCC	AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr5	TogoVar

Search by Variant

Search

Search Results