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
ULK3_chr15_74831118_74848156	74837505	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA19083.hp2 NA18953.hp2 NA19083.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0058 a0002c0001t0001g0059 a0002c0001t0001g0058 a0002c0001t0001g0059	2	440	0.0046	49	c.133 others(64): Show c.1336-71_1336-70insTCTTGCTCGGCACTGCGCTGTGGCTCGTGT CCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK3_chr15_74831118_74848156	74837554	T T	TGAGAGAG others(42): Show TGAGAGAGTGAAGGACGGGGACACGAGCCACAGCGCAGTGCCGAGCAAGA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0039 a0001c0002t0002g0039	1	440	0.0023	49	c.133 others(66): Show c.1335+148_1336-120dupTCTTGCTCGGCACTGCGCTGTGGCTCGT GTCCCCGTCCTTCACTCTCTC	ULK3	ENSG00000140474.14	transcript	ENST00000440863.7	protein_coding	14/15			chr15	TogoVar
ULK4_chr3_41241599_41967103	41306319	C C	CGCCAGCC others(42): Show CGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCCG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02258.hp2 HG02622.hp2 others(3): Show HG01891.hp1 HG02258.hp2 HG02622.hp2 HG03453.hp2 HG03486.hp1 HG03540.hp1	a0002 a0003 a0004 others(2): Show a0002 a0003 a0004 a0009 a0016	a0002c0004 a0003c0016 a0004c0002 others(2): Show a0002c0004 a0003c0016 a0004c0002 a0009c0008 a0016c0015	a0002c0004t0002 a0003c0016t0001 a0004c0002t0005 others(2): Show a0002c0004t0002 a0003c0016t0001 a0004c0002t0005 a0009c0008t0002 a0016c0015t0001	a0002c0004t0002g0016 a0003c0016t0001g0057 a0004c0002t0005g0068 others(3): Show a0002c0004t0002g0016 a0003c0016t0001g0057 a0004c0002t0005g0068 a0009c0008t0002g0020 a0009c0008t0002g0021 a0016c0015t0001g0005	6	72	0.0833	49	c.367 others(70): Show c.3679-56746_3679-56745insCGGGCAGGGGGCTGACCCCCCCAC CTCCCTCCCGGATGGGGCGGCTGGC	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41706361	T T	TTATATAT others(42): Show TTATATATATATTTAATATATATATTTATATATATATTTATATATATTTA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0018 a0002c0009t0002g0018	1	72	0.0139	49	c.263 others(68): Show c.2635-1057_2635-1056insTAAATATATATAAATATATATATAAA TATATATATTAAATATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
UMOD_chr16_20328051_20357715	20355498	A A	AGTTCAAG others(42): Show AGTTCAAGGAGGCAAGTAGAGGCTGGCTCACTGCCCTACCTCCCTCCAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0067 a0001c0003t0002g0067	1	404	0.0025	49	c.-29 others(60): Show c.-2913_-2912insGTTGGAGGGAGGTAGGGCAGTGAGCCAGCCTCTA CTTGCCTCCTTGAAC	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding		2784		chr16	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TAAAAATA others(42): Show TAAAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18990.hp2 NA19002.hp2 others(1): Show HG01346.hp2 NA18990.hp2 NA19002.hp2 NA20805.hp2	a0002 a0013 a0002 a0013	a0002c0003 a0002c0010 a0002c0032 others(1): Show a0002c0003 a0002c0010 a0002c0032 a0013c0017	a0002c0003t0001 a0002c0010t0001 a0002c0032t0001 others(1): Show a0002c0003t0001 a0002c0010t0001 a0002c0032t0001 a0013c0017t0001	a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0032t0001g0038 others(1): Show a0002c0003t0001g0045 a0002c0010t0001g0099 a0002c0032t0001g0038 a0013c0017t0001g0022	4	224	0.0179	49	c.469 others(66): Show c.469-1619_469-1618insATATTTATATAAATATTTATAAAAATAT TTATATAAATATTTATAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257370	T T	TATAAATA others(42): Show TATAAATATTTATATAAATATTTATAAAAATATTTATATAAATATTTATA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0017 a0017	a0017c0030 a0017c0030	a0017c0030t0001 a0017c0030t0001	a0017c0030t0001g0050 a0017c0030t0001g0050	1	224	0.0045	49	c.469 others(66): Show c.469-1622_469-1621insTAAATATTTATATAAATATTTATAAAAA TATTTATATAAATATTTATAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC5B_chr10_71207570_71307864	71296802	G G	GTCGGGGC others(42): Show GTCGGGGCCACATATTCCAGCTGCATACCACTCTGGCAGAGGTGAGGGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01070.hp1 HG00741.hp2 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0182 a0001c0001t0014g0260 a0001c0001t0014g0182 a0001c0001t0014g0260	2	368	0.0054	49	c.249 others(64): Show c.2490+60_2490+61insTCGGGGCCACATATTCCAGCTGCATACCAC TCTGGCAGAGGTGAGGGAA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16			chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCAGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG04115.hp2 HG01070.hp2 HG01071.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0027 a0001c0001t0002 a0001c0001t0027	a0001c0001t0002g0081 a0001c0001t0027g0044 a0001c0001t0027g0259 a0001c0001t0002g0081 a0001c0001t0027g0044 a0001c0001t0027g0259	3	368	0.0082	49	c.249 others(66): Show c.2490+178_2490+226dupAGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296909	G G	GCAGATAT others(42): Show GCAGATATTCCGGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGC	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0051 a0001c0003t0001g0051	1	368	0.0027	49	c.249 others(66): Show c.2490+177_2490+178insGGCTGCACACCACGCTGGCGGAGGTGAG GGAAGGGCGGCCAGATATTCC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296920	A A	AGCTGCAC others(42): Show AGCTGCACACCACGCTGGCGGAGGTGAGGGAAGGGCGGCCAGATATTCCG	intron_variant intron_variant	MODIFIER	HG01358.hp2 NA19087.hp1 HG01358.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0199 a0001c0004t0003g0156 a0001c0001t0001g0199 a0001c0004t0003g0156	2	368	0.0054	49	c.249 others(66): Show c.2490+191_2490+239dupGCTGGCGGAGGTGAGGGAAGGGCGGCCA GATATTCCGGCTGCACACCAC	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5B_chr10_71207570_71307864	71296938	C C	CGGAGGTG others(42): Show CGGAGGTGAGGGAAGGGCGGCCAGATATTCCGGCTGCACACCACTCTGGT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01515.hp2 NA19084.hp1 others(1): Show HG01169.hp2 HG01515.hp2 NA19084.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0028 a0001c0002t0078	a0001c0001t0001g0147 a0001c0001t0002g0274 a0001c0002t0028g0155 others(1): Show a0001c0001t0001g0147 a0001c0001t0002g0274 a0001c0002t0028g0155 a0001c0002t0078g0123	4	368	0.0109	49	c.249 others(66): Show c.2490+236_2490+284dupCCACTCTGGTGGAGGTGAGGGAAGGGCG GCCAGATATTCCGGCTGCACA	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACA	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	338	0.0030	49	c.496 others(66): Show c.4960+794_4960+795insTGTCTTGTTTTTTTAACTTGAGTTTGGG GATTTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
URB1_chr21_32306018_32398012	32332522	C C	CAAAAAAA others(42): Show CAAAAAAAAAAAAAAAAAATCCCCAAACTCAAGTTAAAAAAACAAGACAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02698.hp1 HG02886.hp2 others(6): Show HG01884.hp1 HG02698.hp1 HG02886.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG04199.hp2 NA19057.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0033 a0001c0001 a0001c0002 a0001c0033	a0001c0001t0001 a0001c0002t0003 a0001c0033t0001 a0001c0001t0001 a0001c0002t0003 a0001c0033t0001	a0001c0001t0001g0101 a0001c0002t0003g0204 a0001c0002t0003g0274 others(6): Show a0001c0001t0001g0101 a0001c0002t0003g0204 a0001c0002t0003g0274 a0001c0002t0003g0280 a0001c0002t0003g0281 a0001c0002t0003g0282 a0001c0002t0003g0283 a0001c0002t0003g0301 a0001c0033t0001g0161	9	338	0.0266	49	c.496 others(66): Show c.4960+794_4960+795insTTGTCTTGTTTTTTTAACTTGAGTTTGG GGATTTTTTTTTTTTTTTTTT	URB1	ENSG00000142207.7	transcript	ENST00000382751.4	protein_coding	30/38			chr21	TogoVar
USP13_chr3_179648040_179794401	179728032	A A	ACCACCTC others(42): Show ACCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0237 a0001c0001t0004g0237	1	300	0.0033	49	c.108 others(68): Show c.1089-2127_1089-2126insAGGTGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCC	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
USP46_chr4_52585960_52664301	52632985	A A	AAAGAAAG others(42): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAGAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0045 a0001c0001t0001g0062	2	192	0.0104	49	c.37- others(64): Show c.37-1842_37-1841insCTTTCTTTCTTTTCTTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTT	USP46	ENSG00000109189.13	transcript	ENST00000441222.8	protein_coding	1/8			chr4	TogoVar
USP8_chr15_50419405_50519421	50441604	G G	GCATGATC others(42): Show GCATGATCTCATGTAGATAGAAAAAGGGAACTAAAGATACAGTGTTATTA	intron_variant intron_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0209 a0001c0001t0209	a0001c0001t0209g0362 a0001c0001t0209g0362	1	382	0.0026	49	c.249 others(64): Show c.249+112_249+160dupCATGATCTCATGTAGATAGAAAAAGGGAAC TAAAGATACAGTGTTATTA	USP8	ENSG00000138592.14	transcript	ENST00000307179.9	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr15	TogoVar
UTP18_chr17_51255546_51302933	51265562	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0252 a0001c0002t0001g0252	1	366	0.0027	49	c.456 others(64): Show c.456-599_456-598insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	UTP18	ENSG00000011260.14	transcript	ENST00000225298.12	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
VAV1_chr19_6767708_6862361	6814671	C C	CCTTCCTT others(42): Show CCTTCCTTCCTTCCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTTCTTT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	306	0.0033	49	c.205 others(66): Show c.205-6028_205-6027insCCTTCCTTCCTTTCTCTCTCTCTCTCTC TCTCTCTCTCTCTTCTTTCTT	VAV1	ENSG00000141968.8	transcript	ENST00000602142.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr19	TogoVar
VCL_chr10_73993116_74125169	74105914	T T	TTTTTAGT others(42): Show TTTTTAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAACCTCTGCGC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01433.hp2 HG02257.hp1 others(15): Show HG00642.hp1 HG01433.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03471.hp1 HG03486.hp2 HG06807.hp2 NA19043.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0009 a0006c0019 a0001c0004 a0001c0009 a0006c0019	a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 others(1): Show a0001c0004t0002 a0001c0004t0008 a0001c0009t0002 a0006c0019t0002	a0001c0004t0002g0052 a0001c0004t0002g0058 a0001c0004t0002g0062 others(15): Show a0001c0004t0002g0052 a0001c0004t0002g0058 a0001c0004t0002g0062 a0001c0004t0002g0081 a0001c0004t0002g0082 a0001c0004t0002g0086 a0001c0004t0002g0093 a0001c0004t0002g0123 a0001c0004t0002g0183 a0001c0004t0002g0186 a0001c0004t0002g0262 a0001c0004t0008g0012 a0001c0009t0002g0013 a0001c0009t0002g0040 a0001c0009t0002g0113 a0001c0009t0002g0118 a0001c0009t0002g0181 a0006c0019t0002g0094	18	264	0.0682	49	c.243 others(66): Show c.2434+565_2434+566insAGTGCTGGGATTACAGGTGTGAGCCACC GTGCCCAACCTCTGCGCTTTT	VCL	ENSG00000035403.18	transcript	ENST00000211998.10	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr10	TogoVar
VCX2_chrX_8164944_8176267	8169349	C C	CAACACCT others(42): Show CAACACCTCTTCCACCCTCCCTCCCACCCCACACACCACCTCTTCCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0019 a0019	a0019c0024 a0019c0024	a0019c0024t0009 a0019c0024t0009	a0019c0024t0009g0029 a0019c0024t0009g0029	1	115	0.0087	49	c.68 others(58): Show c.682_*683insAGGGGGAAGAGGTGGTGTGTGGGGTGGGAGGGAGGG TGGAAGAGGTGTT	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		594		chrX	TogoVar
VEGFB_chr11_64229584_64244264	64237126	G G	GAGAGAGA others(42): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAGACAGACAGAGACAGACA	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18980.hp2 NA18984.hp2 others(1): Show NA18964.hp1 NA18980.hp2 NA18984.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0028 a0001c0001t0001g0165 a0001c0001t0001g0169	4	328	0.0122	49	c.375 others(62): Show c.375-61_375-60insAGAGAGAGAGAGAGAGAGAGAGAGAGACAGAG ACAGACAGAGACAGACA	VEGFB	ENSG00000173511.10	transcript	ENST00000309422.7	protein_coding	4/6			chr11	TogoVar
VNN2_chr6_132738870_132762904	132758039	C C	CTTCTTCT others(42): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0065 a0002c0004t0001g0065	1	436	0.0023	49	c.-15 others(58): Show c.-157_-156insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAA	VNN2	ENSG00000112303.14	transcript	ENST00000326499.11	protein_coding		136		chr6	TogoVar
VPS53_chr17_503668_719839	548344	T T	TGACTACA others(42): Show TGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAATATCCAAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03225.hp2 HG02818.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0098 a0001c0001t0096 a0001c0001t0098	a0001c0001t0096g0146 a0001c0001t0098g0147 a0001c0001t0096g0146 a0001c0001t0098g0147	2	232	0.0086	49	c.186 others(68): Show c.1866+3527_1866+3528insGTTGGATATTTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548435	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0016 a0003c0004t0006g0016	1	232	0.0043	49	c.186 others(68): Show c.1866+3388_1866+3436dupGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548484	C C	CATCCAAT others(42): Show CATCCAATGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03491.hp1 HG03492.hp1 others(1): Show HG01981.hp2 HG03491.hp1 HG03492.hp1 HG04199.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0003 a0001c0005 a0002c0003	a0001c0005t0021 a0001c0005t0040 a0002c0003t0145 a0001c0005t0021 a0001c0005t0040 a0002c0003t0145	a0001c0005t0021g0100 a0001c0005t0021g0101 a0001c0005t0040g0002 others(1): Show a0001c0005t0021g0100 a0001c0005t0021g0101 a0001c0005t0040g0002 a0002c0003t0145g0187	4	232	0.0172	49	c.186 others(68): Show c.1866+3387_1866+3388insATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCATTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548533	C C	CATCCAAC others(42): Show CATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAAAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG04204.hp2 others(1): Show HG00280.hp1 HG00323.hp1 HG04204.hp2 NA19090.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0146 a0001c0002t0001 a0002c0003t0146	a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 others(1): Show a0001c0002t0001g0066 a0001c0002t0001g0079 a0001c0002t0001g0080 a0002c0003t0146g0170	4	232	0.0172	49	c.186 others(68): Show c.1866+3290_1866+3338dupATTTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548582	T T	TATCCAAC others(42): Show TATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02723.hp1 HG03516.hp1 others(1): Show HG02622.hp1 HG02723.hp1 HG03516.hp1 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0018 a0006c0016 a0001c0001 a0001c0018 a0006c0016	a0001c0001t0028 a0001c0001t0084 a0001c0018t0126 others(1): Show a0001c0001t0028 a0001c0001t0084 a0001c0018t0126 a0006c0016t0132	a0001c0001t0028g0197 a0001c0001t0084g0046 a0001c0018t0126g0149 others(1): Show a0001c0001t0028g0197 a0001c0001t0084g0046 a0001c0018t0126g0149 a0006c0016t0132g0163	4	232	0.0172	49	c.186 others(68): Show c.1866+3289_1866+3290insGATTCCAGAAGGACTGTTGGCTGGCC AAAGTGGAGTGTAGTCGTTGGAT	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548589	C C	CGACTACA others(42): Show CGACTACACTCCACTTTGGCCAGCCAACAGTCCTTCTGGAATCATCCAAT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.186 others(68): Show c.1866+3282_1866+3283insATTGGATGATTCCAGAAGGACTGTTG GCTGGCCAAAGTGGAGTGTAGTC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAAATATCCAACGACTACACTCCACTTTGGCCAGCCAACAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG03688.hp2 HG01515.hp1 HG01517.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0002 a0001c0007t0011 a0001c0001t0002 a0001c0007t0011	a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106 a0001c0001t0002g0213 a0001c0007t0011g0105 a0001c0007t0011g0106	3	232	0.0129	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGTTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATATTTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	548621	C C	CTTCTGGA others(42): Show CTTCTGGAATCATCCAACGACTACACTCCACTTTGGCCAGCCAGCAGTCA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0039 a0001c0005t0039	a0001c0005t0039g0003 a0001c0005t0039g0003	1	232	0.0043	49	c.186 others(68): Show c.1866+3250_1866+3251insTGACTGCTGGCTGGCCAAAGTGGAGT GTAGTCGTTGGATGATTCCAGAA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	17/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCTCC	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.111 others(68): Show c.1116+4575_1116+4576insGGAGAAATATTAGCAGGCGTGGTGGT GCACACGTGTAGTCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	618957	T T	TGGGTAGC others(42): Show TGGGTAGCTGGGACTACACGTGTGCACCACCACGCCTGCTAATATTTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00621.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01167.hp1 HG01346.hp1 HG01516.hp1 HG01928.hp1 HG01981.hp1 HG02040.hp1 HG02056.hp1 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02738.hp2 HG03491.hp2 HG03831.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04199.hp1 NA18612.hp1 NA18944.hp2 NA18946.hp1 NA18955.hp1 NA18957.hp2 NA18973.hp2 NA18979.hp2 NA18983.hp1 NA18987.hp1 NA18990.hp2 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19066.hp1 NA19066.hp2 NA19074.hp1 NA19080.hp2 NA19084.hp2 NA19090.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0002 a0002c0003 a0004c0008 others(2): Show a0001c0002 a0002c0003 a0004c0008 a0005c0009 a0009c0011	a0001c0002t0017 a0001c0002t0035 a0001c0002t0038 others(40): Show a0001c0002t0017 a0001c0002t0035 a0001c0002t0038 a0001c0002t0050 a0001c0002t0086 a0001c0002t0100 a0001c0002t0109 a0001c0002t0125 a0001c0002t0143 a0001c0002t0149 a0002c0003t0008 a0002c0003t0009 a0002c0003t0017 a0002c0003t0018 a0002c0003t0027 a0002c0003t0036 a0002c0003t0037 a0002c0003t0085 a0002c0003t0089 a0002c0003t0090 a0002c0003t0091 a0002c0003t0092 a0002c0003t0093 a0002c0003t0099 a0002c0003t0131 a0002c0003t0136 a0002c0003t0139 a0002c0003t0140 a0002c0003t0144 a0002c0003t0145 a0002c0003t0146 a0002c0003t0148 a0002c0003t0150 a0004c0008t0035 a0004c0008t0036 a0004c0008t0103 a0004c0008t0124 a0004c0008t0133 a0004c0008t0142 a0005c0009t0130 a0005c0009t0137 a0005c0009t0147 a0009c0011t0104	a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0038g0224 others(49): Show a0001c0002t0017g0225 a0001c0002t0035g0219 a0001c0002t0038g0224 a0001c0002t0050g0049 a0001c0002t0086g0221 a0001c0002t0100g0223 a0001c0002t0109g0222 a0001c0002t0125g0116 a0001c0002t0143g0226 a0001c0002t0149g0202 a0002c0003t0008g0180 a0002c0003t0008g0182 a0002c0003t0008g0183 a0002c0003t0008g0217 a0002c0003t0009g0185 a0002c0003t0009g0186 a0002c0003t0009g0188 a0002c0003t0009g0218 a0002c0003t0017g0179 a0002c0003t0018g0172 a0002c0003t0018g0214 a0002c0003t0018g0231 a0002c0003t0027g0169 a0002c0003t0027g0181 a0002c0003t0036g0176 a0002c0003t0037g0168 a0002c0003t0085g0184 a0002c0003t0089g0175 a0002c0003t0090g0171 a0002c0003t0091g0209 a0002c0003t0092g0190 a0002c0003t0093g0173 a0002c0003t0099g0192 a0002c0003t0131g0193 a0002c0003t0136g0216 a0002c0003t0139g0167 a0002c0003t0140g0194 a0002c0003t0144g0215 a0002c0003t0145g0187 a0002c0003t0146g0170 a0002c0003t0148g0174 a0002c0003t0150g0191 a0004c0008t0035g0203 a0004c0008t0036g0207 a0004c0008t0103g0227 a0004c0008t0124g0229 a0004c0008t0133g0232 a0004c0008t0142g0228 a0005c0009t0130g0178 a0005c0009t0137g0189 a0005c0009t0147g0177 a0009c0011t0104g0208	52	232	0.2241	49	c.111 others(68): Show c.1116+4527_1116+4575dupGGGAAATATTAGCAGGCGTGGTGGTG CACACGTGTAGTCCCAGCTACCC	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VPS53_chr17_503668_719839	619666	G G	GTGCCCAC others(42): Show GTGCCCACCACACCCCGCTAATATTTCCCGGGTAGCTGGGACTACAGGCA	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0037 a0002c0003t0037	a0002c0003t0037g0115 a0002c0003t0037g0115	1	232	0.0043	49	c.111 others(68): Show c.1116+3866_1116+3867insTGCCTGTAGTCCCAGCTACCCGGGAA ATATTAGCGGGGTGTGGTGGGCA	VPS53	ENSG00000141252.21	transcript	ENST00000437048.7	protein_coding	11/21			chr17	TogoVar
VWA8_chr13_41561835_41966109	41758483	G G	GTATATAT others(42): Show GTATATATATTCCATATATATGGAATATATGGAATATATATATGCCAGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0059 a0001c0001t0011g0059	1	250	0.0040	49	c.242 others(68): Show c.2426+2644_2426+2645insTACTGGCATATATATATTCCATATAT TCCATATATATGGAATATATATA	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	21/44			chr13	TogoVar
VWA8_chr13_41561835_41966109	41881829	G G	GGACGGGG others(42): Show GGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0014 a0014	a0014c0017 a0014c0017	a0014c0017t0013 a0014c0017t0013	a0014c0017t0013g0250 a0014c0017t0013g0250	1	250	0.0040	49	c.108 others(68): Show c.1080+1557_1080+1558insTGGGAGGGAGGTGGGGGGGTCAGCCC CCCGCCCGGCCAGCCGCCCCGTC	VWA8	ENSG00000102763.18	transcript	ENST00000379310.8	protein_coding	9/44			chr13	TogoVar
VWC2L_chr2_214406054_214583976	214496245	T T	TATTTTGG others(42): Show TATTTTGGGACATATATATATATATATATATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03471.hp2 HG03540.hp1 others(1): Show HG02717.hp1 HG03471.hp2 HG03540.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0004 a0001c0001t0001 a0001c0001t0003 a0001c0002t0004	a0001c0001t0001g0010 a0001c0001t0003g0246 a0001c0001t0003g0247 others(1): Show a0001c0001t0001g0010 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0002t0004g0149	4	282	0.0142	49	c.520 others(68): Show c.520+59487_520+59488insATTTTGGGACATATATATATATATAT ATATACATATATATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3			chr2	TogoVar
VWC2L_chr2_214406054_214583976	214496245	T T	TATTTTGG others(42): Show TATTTTGGGACATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp2 NA20300.hp2 HG03195.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0152 a0001c0001t0002g0153	2	282	0.0071	49	c.520 others(68): Show c.520+59487_520+59488insATTTTGGGACATATATATATATATAT ATATATATATATATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3			chr2	TogoVar
VWC2L_chr2_214406054_214583976	214496245	T T	TATTTTGG others(42): Show TATTTTGGGATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02818.hp1 NA19043.hp2 HG01256.hp2 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0023 a0001c0001t0002 a0001c0001t0023	a0001c0001t0002g0059 a0001c0001t0002g0139 a0001c0001t0023g0068 a0001c0001t0002g0059 a0001c0001t0002g0139 a0001c0001t0023g0068	3	282	0.0106	49	c.520 others(68): Show c.520+59487_520+59488insATTTTGGGATATATATATATATATAT ATATATATATATATATATATATA	VWC2L	ENSG00000174453.10	transcript	ENST00000312504.10	protein_coding	3/3			chr2	TogoVar
WARS1_chr14_100328790_100380347	100344952	G G	GGGGGTCA others(42): Show GGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18946.hp2 NA18977.hp2 others(1): Show HG03209.hp2 NA18946.hp2 NA18977.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 others(1): Show a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0240	4	338	0.0118	49	c.827 others(66): Show c.827-1566_827-1565insGCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCC	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	7/10			chr14	TogoVar
WARS1_chr14_100328790_100380347	100345019	C C	CGGCCAGC others(42): Show CGGCCAGCCGCCCCGTCCGGGAGGGAAGTTGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0183 a0001c0001t0001g0183	1	338	0.0030	49	c.827 others(66): Show c.827-1633_827-1632insAGGCGGGGGGCTGACCCCCCAACTTCCC TCCCGGACGGGGCGGCTGGCC	WARS1	ENSG00000140105.18	transcript	ENST00000392882.7	protein_coding	7/10			chr14	TogoVar
WASF3_chr13_26552683_26693948	26559811	T T	TCTTTCTT others(42): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0006 a0003c0005t0006	a0003c0005t0006g0029 a0003c0005t0006g0029	1	294	0.0034	49	c.-10 others(68): Show c.-109+1992_-109+1993insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTC	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9			chr13	TogoVar
WASF3_chr13_26552683_26693948	26578993	C C	CTTTTTTT others(42): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp1 HG02293.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0085 a0002c0003t0003g0085	1	294	0.0034	49	c.-10 others(70): Show c.-109+21197_-109+21198insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	WASF3	ENSG00000132970.14	transcript	ENST00000335327.6	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr13	TogoVar
WDFY4_chr10_48679873_48987956	48787903	C C	CTTCTTCT others(42): Show CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTTCTTCTTTCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0076 a0076	a0076c0037 a0076c0037	a0076c0037t0005 a0076c0037t0005	a0076c0037t0005g0002 a0076c0037t0005g0002	1	202	0.0050	49	c.380 others(66): Show c.3809-598_3809-597insTCTTCTTCTTTCTTCTTTCTTTCTTCTT CTTCTTCTTCTTCTTCTTCTT	WDFY4	ENSG00000128815.20	transcript	ENST00000325239.12	protein_coding	20/61		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR20_chr14_102134897_102215527	102172721	C C	CCTCCCTC others(42): Show CCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	264	0.0038	49	c.250 others(68): Show c.250-22194_250-22193insGCCGGGTGGGGGGGCTGACCCCCCAT CTCCCTCCCGGACGGGGCGGCTG	WDR20	ENSG00000140153.18	transcript	ENST00000342702.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(42): Show AGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGGCGGGGAGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0115 a0001c0001t0004g0115	1	382	0.0026	49	c.-49 others(58): Show c.-494_-493insCCTCCCCCTCCTCCCCGCCCCCGCCCCTCCCCCTCC TCCCCGCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648833	A A	AGGCGGGG others(42): Show AGGCGGGGCGGGGAGGAGGGGGAGGGGGCGGGGCGGGGAGGAGGGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0118 a0001c0001t0004g0118	1	382	0.0026	49	c.-49 others(58): Show c.-494_-493insCCTCCCCCTCCTCCCCGCCCCGCCCCCTCCCCCTCC TCCCCGCCCCGCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		390		chr17	TogoVar
WDR45B_chr17_82609562_82653444	82648849	A A	AGGGGGAG others(42): Show AGGGGGAGGGGCGGGGCGGGGAGGAGGGGGAGGGGCGGGGCGGGGAGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0311 a0001c0001t0003g0311	1	382	0.0026	49	c.-51 others(58): Show c.-510_-509insCTCCTCCCCGCCCCGCCCCTCCCCCTCCTCCCCGCC CCGCCCCTCCCCC	WDR45B	ENSG00000141580.16	transcript	ENST00000392325.9	protein_coding		406		chr17	TogoVar
WDR87_chr19_37879823_37911594	37880983	C C	CTATATAT others(42): Show CTATATATATATATATTATATATATATATAATATATATATATTATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0122 a0003c0003t0003g0122	1	330	0.0030	49	c.39 others(60): Show c.3948_*3949insTATATATAATATATATATATTATATATATATATA ATATATATATATATA	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3839		chr19	TogoVar
WFDC11_chr20_45643563_45675239	45645758	C C	CAGCTGGC others(42): Show CAGCTGGCCGGGAGGGGCGCTGACCCCCCCACCTCCTTCCCGGATGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	49	c.29 others(60): Show c.2960_*2961insACCCCATCCGGGAAGGAGGTGGGGGGGTCAGCGC CCCTCCCGGCCAGCT	WFDC11	ENSG00000180083.11	transcript	ENST00000324384.4	protein_coding		2804		chr20	TogoVar

Search by Variant

Search

Search Results