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
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	336	0.0030	24	c.58 others(35): Show c.5810_*5811insAAAAAAAAAAAAATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	336	0.0030	24	c.58 others(35): Show c.5810_*5811insAAAAAAATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AAAATATA others(17): Show AAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	336	0.0030	24	c.58 others(35): Show c.5810_*5811insAAATATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX19B_chr16_70294186_70340305	70339392	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	336	0.0030	24	c.58 others(35): Show c.5810_*5811insATATATATATATATATATATATAT	DDX19B	ENSG00000157349.17	transcript	ENST00000288071.11	protein_coding		4088		chr16	TogoVar
DDX1_chr2_15586868_15636101	15611748	C C	CAGTAGGG others(17): Show CAGTAGGGGCGGCTGGGCAGAGGCG	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp1 HG00639.hp2 others(121): Show HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp2 HG01109.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01358.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp2 HG04199.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18947.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18969.hp1 NA18973.hp1 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19074.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19087.hp1 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0003c0008 a0004c0016	a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0014t0001 a0003c0008t0001 a0004c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(73): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0002t0001g0208 a0001c0014t0001g0100 a0003c0008t0001g0068 a0003c0008t0001g0080 a0004c0016t0001g0029	124	396	0.3131	24	c.957 others(41): Show c.957-1476_957-1475insAGTAGGGGCGGCTGGGCAGAGGCG	DDX1	ENSG00000079785.16	transcript	ENST00000233084.8	protein_coding	13/25			chr2	TogoVar
DDX24_chr14_94043287_94086202	94065384	G G	GACACACA others(17): Show GACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01256.hp2 others(5): Show HG00639.hp1 HG00741.hp1 HG01256.hp2 HG01257.hp2 NA18955.hp1 NA18989.hp2 NA18990.hp2 NA18995.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0015 a0002c0003 a0001c0002 a0001c0015 a0002c0003	a0001c0002t0003 a0001c0002t0032 a0001c0015t0003 others(1): Show a0001c0002t0003 a0001c0002t0032 a0001c0015t0003 a0002c0003t0005	a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0147 others(3): Show a0001c0002t0003g0043 a0001c0002t0003g0045 a0001c0002t0003g0147 a0001c0002t0032g0146 a0001c0015t0003g0145 a0002c0003t0005g0200	8	371	0.0216	24	c.719 others(41): Show c.719-2764_719-2763insGTGTGTGTGTGTGTGTGTGTGTGT	DDX24	ENSG00000089737.19	transcript	ENST00000621632.5	protein_coding	2/8			chr14	TogoVar
DDX28_chr16_68015916_68028232	68020859	A A	ATATATAT others(17): Show ATATATATATATATATATATATACG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0000 a0002c0003t0001g0000	1	390	0.0026	24	c.72 others(33): Show c.720_*721insCGTATATATATATATATATATATA	DDX28	ENSG00000182810.7	transcript	ENST00000332395.7	protein_coding		56		chr16	TogoVar
DDX31_chr9_132587997_132674983	132632239	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03710.hp1 NA18986.hp2 others(1): Show HG01257.hp2 HG03710.hp1 NA18986.hp2 NA19058.hp2	a0001 a0019 a0001 a0019	a0001c0001 a0019c0024 a0001c0001 a0019c0024	a0001c0001t0002 a0019c0024t0002 a0001c0001t0002 a0019c0024t0002	a0001c0001t0002g0032 a0001c0001t0002g0357 a0001c0001t0002g0368 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0357 a0001c0001t0002g0368 a0019c0024t0002g0038	4	402	0.0100	24	c.144 others(41): Show c.1441-149_1441-148insGTGTGTGTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX31_chr9_132587997_132674983	132632241	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02523.hp2 NA18998.hp2 HG02258.hp1 HG02523.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0105 a0002c0002t0003g0069 a0002c0002t0003g0085 a0001c0001t0001g0105 a0002c0002t0003g0069 a0002c0002t0003g0085	3	402	0.0075	24	c.144 others(41): Show c.1441-174_1441-151dupGTGTGTGTGTGTGTGTGTGTGTGT	DDX31	ENSG00000125485.18	transcript	ENST00000372159.8	protein_coding	14/19			chr9	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(17): Show GAAGGAAGAAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03471.hp1 HG03130.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0199 a0001c0001t0001g0108 a0001c0001t0001g0199	2	332	0.0060	24	c.-33 others(35): Show c.-3348_-3347insAAGGAAGAAAGAAAGAAAGAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGAAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	332	0.0030	24	c.-33 others(35): Show c.-3348_-3347insAAGGAAGGAAGAAAGAAAGAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGAAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00558.hp1 others(47): Show HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG01081.hp2 HG01167.hp2 HG01361.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG02015.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG03491.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA18941.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18952.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18965.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18979.hp2 NA18988.hp1 NA18989.hp2 NA19002.hp1 NA19004.hp1 NA19006.hp1 NA19011.hp1 NA19012.hp1 NA19086.hp2 NA19087.hp1 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0009 a0001c0001 a0002c0009	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0015 a0001c0001t0019 a0001c0001t0021 a0002c0009t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0007g0025 a0001c0001t0008g0187 a0001c0001t0012g0143 a0001c0001t0015g0186 a0001c0001t0019g0152 a0001c0001t0021g0153 a0002c0009t0001g0149	50	332	0.1506	24	c.-33 others(35): Show c.-3348_-3347insAAGGAAGGAAGGAAGAAAGAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX42_chr17_63769170_63824317	63771045	G G	GAAGGAAG others(17): Show GAAGGAAGGAAGGAAGGAAGAAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp2 HG01257.hp2 others(2): Show HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0141 others(1): Show a0001c0001t0001g0023 a0001c0001t0001g0129 a0001c0001t0001g0141 a0001c0001t0001g0184	5	332	0.0151	24	c.-33 others(35): Show c.-3348_-3347insAAGGAAGGAAGGAAGGAAGAAAGA	DDX42	ENSG00000198231.14	transcript	ENST00000389924.7	protein_coding		3124		chr17	TogoVar
DDX43_chr6_73389828_73422566	73412668	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGCGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0150 a0002c0002t0001g0150	1	394	0.0025	24	c.136 others(41): Show c.1368+377_1368+378insTGTGTGTGTGTGTGTGTGTGCGCG	DDX43	ENSG00000080007.8	transcript	ENST00000370336.5	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
DDX46_chr5_134753779_134836121	134829929	A A	AAAATAAA others(17): Show AAAATAAATAAATAAATAAATAAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG02895.hp2 HG02897.hp1 others(4): Show HG01167.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03225.hp2 HG06807.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 others(2): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0030	a0001c0001t0012g0162 a0001c0001t0012g0219 a0001c0001t0013g0165 others(4): Show a0001c0001t0012g0162 a0001c0001t0012g0219 a0001c0001t0013g0165 a0001c0001t0013g0166 a0001c0001t0018g0167 a0001c0001t0021g0026 a0001c0001t0030g0217	7	342	0.0205	24	c.12 others(35): Show c.1225_*1248dupAATAAATAAATAAATAAATAAATA	DDX46	ENSG00000145833.16	transcript	ENST00000452510.7	protein_coding	23/23	1249	INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX47_chr12_12808346_12834981	12809760	G G	GTGTATAT others(17): Show GTGTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	450	0.0022	24	c.-36 others(35): Show c.-3608_-3607insTGTATATATATATATATATATATA	DDX47	ENSG00000213782.7	transcript	ENST00000358007.7	protein_coding		3585		chr12	TogoVar
DDX4_chr5_55733061_55822157	55735412	T T	TTTGAATT others(17): Show TTTGAATTGAATTAATTTAATTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18963.hp2 NA18970.hp1 others(3): Show NA18960.hp2 NA18963.hp2 NA18970.hp1 NA19058.hp1 NA19064.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0227	6	346	0.0173	24	c.-27 others(35): Show c.-2704_-2703insTTGAATTGAATTAATTTAATTCAA	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding		2648		chr5	TogoVar
DDX4_chr5_55733061_55822157	55765411	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	346	0.0029	24	c.334 others(41): Show c.334+1348_334+1349insTATATATATATATATATATATATA	DDX4	ENSG00000152670.19	transcript	ENST00000505374.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr5	TogoVar
DDX52_chr17_37604739_37648446	37647226	T T	TATAGATA others(17): Show TATAGATAGATAGATAGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA19011.hp1 NA19055.hp2 NA18973.hp2 NA19011.hp1 NA19055.hp2	a0002 a0007 a0002 a0007	a0002c0002 a0007c0011 a0002c0002 a0007c0011	a0002c0002t0001 a0007c0011t0001 a0002c0002t0001 a0007c0011t0001	a0002c0002t0001g0018 a0007c0011t0001g0229 a0002c0002t0001g0018 a0007c0011t0001g0229	3	411	0.0073	24	c.-38 others(35): Show c.-3807_-3806insCTATCTATCTATCTATCTATCTAT	DDX52	ENSG00000278053.5	transcript	ENST00000617633.5	protein_coding		3781		chr17	TogoVar
DDX60L_chr4_168351735_168485492	168352889	C C	CCTTTCAT others(17): Show CCTTTCATCTTCTTTGATGCCCTTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 NA18522.hp2 HG03579.hp1 NA18522.hp2	a0002 a0009 a0002 a0009	a0002c0018 a0009c0014 a0002c0018 a0009c0014	a0002c0018t0003 a0009c0014t0003 a0002c0018t0003 a0009c0014t0003	a0002c0018t0003g0066 a0009c0014t0003g0101 a0002c0018t0003g0066 a0009c0014t0003g0101	2	268	0.0075	24	c.52 others(35): Show c.5257_*5258insCAAGGGCATCAAAGAAGATGAAAG	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding		3845		chr4	TogoVar
DDX60L_chr4_168351735_168485492	168422999	G G	GTGTGTGT others(17): Show GTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02280.hp2 HG02895.hp1 others(5): Show HG01109.hp1 HG02280.hp2 HG02895.hp1 HG02970.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp1 NA21309.hp1	a0002 a0007 a0017 others(4): Show a0002 a0007 a0017 a0029 a0034 a0043 a0045	a0002c0018 a0007c0025 a0017c0021 others(5): Show a0002c0018 a0007c0025 a0017c0021 a0029c0082 a0029c0087 a0034c0080 a0043c0079 a0045c0069	a0002c0018t0001 a0007c0025t0002 a0017c0021t0001 others(5): Show a0002c0018t0001 a0007c0025t0002 a0017c0021t0001 a0029c0082t0002 a0029c0087t0004 a0034c0080t0002 a0043c0079t0004 a0045c0069t0002	a0002c0018t0001g0257 a0007c0025t0002g0006 a0017c0021t0001g0075 others(5): Show a0002c0018t0001g0257 a0007c0025t0002g0006 a0017c0021t0001g0075 a0029c0082t0002g0256 a0029c0087t0004g0240 a0034c0080t0002g0224 a0043c0079t0004g0223 a0045c0069t0002g0214	8	268	0.0299	24	c.209 others(41): Show c.2098-330_2098-329insTACACACACACACACACACACACA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	15/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168454758	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01258.hp1 others(6): Show HG00738.hp1 HG01175.hp2 HG01258.hp1 HG01361.hp2 HG02004.hp1 HG02145.hp2 NA18992.hp1 NA18997.hp1 NA19087.hp2	a0001 a0002 a0055 a0001 a0002 a0055	a0001c0002 a0002c0004 a0055c0068 a0001c0002 a0002c0004 a0055c0068	a0001c0002t0001 a0002c0004t0002 a0055c0068t0001 a0001c0002t0001 a0002c0004t0002 a0055c0068t0001	a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0039 others(6): Show a0001c0002t0001g0011 a0001c0002t0001g0026 a0001c0002t0001g0039 a0001c0002t0001g0049 a0001c0002t0001g0058 a0001c0002t0001g0063 a0002c0004t0002g0042 a0002c0004t0002g0056 a0055c0068t0001g0265	9	268	0.0336	24	c.837 others(41): Show c.837+1280_837+1281insAAAAAAAAAAAAAAAAAAAAAAAA	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	7/37			chr4	TogoVar
DDX60L_chr4_168351735_168485492	168459774	G G	GGGAAGGA others(17): Show GGGAAGGAAGGAAGGAAGGAAGGAA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00438.hp2 others(49): Show HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01934.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03490.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp2 NA18906.hp1 NA18943.hp1 NA18948.hp1 NA18954.hp2 NA18962.hp1 NA18990.hp1 NA19001.hp2 NA19043.hp1 NA19057.hp1 NA19087.hp1 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(18): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0016 a0023 a0029 a0032 a0034 a0040 a0044 a0047	a0001c0041 a0002c0024 a0003c0001 others(25): Show a0001c0041 a0002c0024 a0003c0001 a0003c0012 a0004c0005 a0004c0011 a0004c0019 a0005c0003 a0005c0008 a0005c0051 a0006c0006 a0006c0034 a0007c0076 a0008c0007 a0009c0014 a0010c0027 a0011c0010 a0012c0015 a0013c0032 a0013c0063 a0016c0044 a0023c0029 a0029c0087 a0032c0101 a0034c0080 a0040c0059 a0044c0086 a0047c0088	a0001c0041t0001 a0002c0024t0001 a0003c0001t0002 others(27): Show a0001c0041t0001 a0002c0024t0001 a0003c0001t0002 a0003c0001t0003 a0003c0012t0002 a0004c0005t0001 a0004c0011t0001 a0004c0019t0001 a0005c0003t0001 a0005c0008t0001 a0005c0051t0003 a0006c0006t0003 a0006c0034t0003 a0007c0076t0002 a0008c0007t0001 a0008c0007t0006 a0009c0014t0001 a0010c0027t0001 a0011c0010t0001 a0012c0015t0003 a0013c0032t0001 a0013c0063t0002 a0016c0044t0003 a0023c0029t0004 a0029c0087t0004 a0032c0101t0003 a0034c0080t0002 a0040c0059t0001 a0044c0086t0002 a0047c0088t0001	a0001c0041t0001g0146 a0001c0041t0001g0147 a0002c0024t0001g0233 others(49): Show a0001c0041t0001g0146 a0001c0041t0001g0147 a0002c0024t0001g0233 a0002c0024t0001g0234 a0003c0001t0002g0016 a0003c0001t0002g0159 a0003c0001t0002g0164 a0003c0001t0002g0165 a0003c0001t0002g0203 a0003c0001t0003g0176 a0003c0001t0003g0205 a0003c0001t0003g0207 a0003c0012t0002g0019 a0004c0005t0001g0013 a0004c0005t0001g0113 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0011t0001g0112 a0004c0019t0001g0080 a0005c0003t0001g0154 a0005c0003t0001g0174 a0005c0003t0001g0177 a0005c0003t0001g0190 a0005c0003t0001g0210 a0005c0008t0001g0206 a0005c0051t0003g0202 a0006c0006t0003g0022 a0006c0006t0003g0139 a0006c0034t0003g0132 a0007c0076t0002g0216 a0008c0007t0001g0157 a0008c0007t0001g0158 a0008c0007t0001g0175 a0008c0007t0001g0191 a0008c0007t0006g0163 a0009c0014t0001g0089 a0009c0014t0001g0091 a0010c0027t0001g0136 a0010c0027t0001g0140 a0011c0010t0001g0017 a0011c0010t0001g0178 a0012c0015t0003g0148 a0013c0032t0001g0090 a0013c0063t0002g0092 a0016c0044t0003g0023 a0023c0029t0004g0211 a0029c0087t0004g0240 a0032c0101t0003g0134 a0034c0080t0002g0224 a0040c0059t0001g0088 a0044c0086t0002g0003 a0047c0088t0001g0116	52	268	0.1940	24	c.607 others(41): Show c.607-1790_607-1767dupTTCCTTCCTTCCTTCCTTCCTTCC	DDX60L	ENSG00000181381.15	transcript	ENST00000682922.1	protein_coding	5/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168215492	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0221 a0001c0012t0001g0221	1	270	0.0037	24	c.14 others(35): Show c.1440_*1441insTTTTTTTTTTTTTTTTTTTTTTTT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding		801		chr4	TogoVar
DDX60_chr4_168211294_168323752	168297297	C C	CGAAAGAA others(17): Show CGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	270	0.0037	24	c.724 others(41): Show c.724-3376_724-3353dupTTTCTTTCTTTCTTTCTTTCTTTC	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	6/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168312727	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGAGAGAT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp2 HG01175.hp1 others(7): Show HG00735.hp1 HG01081.hp2 HG01175.hp1 HG01346.hp1 HG01516.hp1 HG01517.hp1 HG03490.hp2 HG03492.hp1 NA20752.hp1 NA20905.hp1	a0001 a0004 a0020 a0001 a0004 a0020	a0001c0001 a0004c0005 a0020c0040 a0001c0001 a0004c0005 a0020c0040	a0001c0001t0001 a0004c0005t0001 a0020c0040t0001 a0001c0001t0001 a0004c0005t0001 a0020c0040t0001	a0001c0001t0001g0130 a0001c0001t0001g0131 a0004c0005t0001g0133 others(7): Show a0001c0001t0001g0130 a0001c0001t0001g0131 a0004c0005t0001g0133 a0004c0005t0001g0134 a0004c0005t0001g0135 a0004c0005t0001g0136 a0004c0005t0001g0137 a0004c0005t0001g0138 a0004c0005t0001g0139 a0020c0040t0001g0132	10	270	0.0370	24	c.-10 others(43): Show c.-106-1363_-106-1362insATCTCTCTATCTATCTATCTATCT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	1/37			chr4	TogoVar
DDX60_chr4_168211294_168323752	168312727	C C	CAGATAGA others(17): Show CAGATAGATAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(49): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00738.hp2 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02083.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp2 HG02273.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03491.hp1 HG03704.hp1 NA18522.hp1 NA18945.hp1 NA18948.hp2 NA18966.hp2 NA18992.hp1 NA18998.hp2 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp2 NA19068.hp2 NA19090.hp2 NA20300.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0008 a0018	a0001c0001 a0001c0003 a0001c0006 others(9): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0013 a0002c0002 a0002c0007 a0003c0004 a0005c0011 a0005c0022 a0008c0018 a0018c0033	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0006t0001 a0001c0010t0001 a0001c0010t0005 a0001c0013t0001 a0002c0002t0001 a0002c0007t0001 a0003c0004t0001 a0005c0011t0001 a0005c0022t0001 a0008c0018t0001 a0018c0033t0001	a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0167 others(49): Show a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0003g0190 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0006t0001g0195 a0001c0006t0001g0198 a0001c0006t0001g0199 a0001c0010t0001g0239 a0001c0010t0005g0240 a0001c0013t0001g0219 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0236 a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0242 a0002c0002t0001g0247 a0002c0002t0001g0248 a0002c0007t0001g0224 a0002c0007t0001g0225 a0003c0004t0001g0188 a0003c0004t0001g0201 a0003c0004t0001g0213 a0003c0004t0001g0214 a0003c0004t0001g0215 a0005c0011t0001g0121 a0005c0022t0001g0141 a0008c0018t0001g0263 a0008c0018t0001g0264 a0018c0033t0001g0173	52	270	0.1926	24	c.-10 others(43): Show c.-106-1363_-106-1362insATCTATCTATCTATCTATCTATCT	DDX60	ENSG00000137628.18	transcript	ENST00000393743.8	protein_coding	1/37			chr4	TogoVar
DDX6_chr11_118742763_118796164	118768987	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0225 a0001c0001t0051g0225	1	370	0.0027	24	c.370 others(39): Show c.370-636_370-635insTTTTTTTTTTTTTTTTTTTTTTTT	DDX6	ENSG00000110367.14	transcript	ENST00000534980.7	protein_coding	4/13			chr11	TogoVar
DEDD2_chr19_42193598_42222677	42212037	C C	CAATAATA others(17): Show CAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA20129.hp1 HG02109.hp2 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0024	2	252	0.0079	24	c.449 others(41): Show c.449-2221_449-2198dupATTATTATTATTATTATTATTATT	DEDD2	ENSG00000160570.14	transcript	ENST00000596251.6	protein_coding	3/4			chr19	TogoVar
DEF8_chr16_89943755_89973060	89951827	C C	CACACACA others(17): Show CACACACACACATATATATGTATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG02965.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0082 a0001c0002t0017g0083 a0001c0002t0017g0082 a0001c0002t0017g0083	2	392	0.0051	24	c.-11 others(41): Show c.-11+2324_-11+2347dupCATATATATGTATATACACACACA	DEF8	ENSG00000140995.17	transcript	ENST00000563594.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
DEFA1_chr8_6972649_6985092	6974207	T T	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	408	0.0025	24	c.35 others(35): Show c.3562_*3563insGAAAGAAAGAAAGAAAGAAAGAAA	DEFA1	ENSG00000206047.4	transcript	ENST00000382692.3	protein_coding		3441		chr8	TogoVar
DEFA6_chr8_6919697_6931076	6929380	G G	GACACAAC others(17): Show GACACAACTGAAACTGTTCCTTCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02258.hp1 HG02615.hp1 others(2): Show HG01891.hp1 HG02258.hp1 HG02615.hp1 HG03471.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0003g0044 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0003g0044	5	472	0.0106	24	c.-33 others(35): Show c.-3346_-3345insATGAAGGAACAGTTTCAGTTGTGT	DEFA6	ENSG00000164822.5	transcript	ENST00000297436.3	protein_coding		3305		chr8	TogoVar
DEFB107A_chr8_7806720_7820716	7815247	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG06807.hp2 HG03579.hp1 HG06807.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0088 a0002c0002t0001g0038 a0001c0001t0001g0088 a0002c0002t0001g0038	2	170	0.0118	24	c.70+ others(37): Show c.70+288_70+311dupTTTTTTTTTTTTTTTTTTTTTTTT	DEFB107A	ENSG00000186572.2	transcript	ENST00000335021.2	protein_coding	1/1			chr8	TogoVar
DEFB116_chr20_31298212_31313585	31298455	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	416	0.0024	24	c.47 others(35): Show c.4756_*4757insTTTTTTTTTTTTTTTTTTTTTTTT	DEFB116	ENSG00000215545.1	transcript	ENST00000400549.1	protein_coding		4756		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31460620	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 HG03041.hp1 HG03579.hp2 HG00741.hp1 HG03041.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0058 a0001c0001t0002g0139 a0002c0003t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0139 a0002c0003t0002g0056	3	362	0.0083	24	c.48 others(35): Show c.4885_*4886insTTTTTTTTTTTTTTTTTTTTTTTT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding		4850		chr20	TogoVar
DEFB124_chr20_31460471_31480127	31466606	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp2 HG04115.hp2 others(3): Show HG01109.hp1 HG02809.hp2 HG04115.hp2 NA19030.hp1 NA19070.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0089 others(3): Show a0001c0001t0002g0073 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0146	6	362	0.0166	24	c.59- others(37): Show c.59-944_59-943insATATATATATATATATATATATAT	DEFB124	ENSG00000180383.4	transcript	ENST00000317676.3	protein_coding	2/2			chr20	TogoVar
DENND10_chr10_119099113_119142984	119115382	A A	ATTTTTTT others(17): Show ATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02074.hp1 NA18967.hp2 HG00408.hp2 HG02074.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0284 a0001c0001t0001g0203 a0001c0001t0001g0213 a0001c0001t0001g0284	3	374	0.0080	24	c.333 others(41): Show c.333-2114_333-2113insTTTTTTTTTTTTTTTTTTTTTTTT	DENND10	ENSG00000119979.18	transcript	ENST00000361432.3	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
DENND11_chr7_141651728_141707166	141653946	C C	CCCTTCAT others(17): Show CCCTTCATTCATTTATAAAAATAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	345	0.0029	24	c.86 others(35): Show c.8686_*8709dupTTTATTTTTATAAATGAATGAAGG	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding		2781		chr7	TogoVar
DENND11_chr7_141651728_141707166	141674230	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02922.hp2 HG02258.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0035 a0001c0009t0033 a0001c0001t0035 a0001c0009t0033	a0001c0001t0035g0270 a0001c0009t0033g0043 a0001c0001t0035g0270 a0001c0009t0033g0043	2	345	0.0058	24	c.528 others(37): Show c.528-34_528-11dupGTGTGTGTGTGTGTGTGTGTGTGT	DENND11	ENSG00000257093.7	transcript	ENST00000536163.6	protein_coding	3/8			chr7	TogoVar
DENND1A_chr9_123374658_123935126	123378798	G G	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0092 a0001c0001t0002g0092	1	162	0.0062	24	c.26 others(35): Show c.2633_*2634insAAAAAAAAAAAAAAAAAAAAAAAA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding		859		chr9	TogoVar
DENND1A_chr9_123374658_123935126	123395468	C C	CTCTGTGT others(17): Show CTCTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	162	0.0062	24	c.163 others(43): Show c.1632-7611_1632-7610insCACACACACACACACACACACAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	21/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123495141	T T	TTCTCTCT others(17): Show TTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0134 a0001c0005t0005g0134	1	162	0.0062	24	c.994 others(43): Show c.994-37268_994-37245dupGAGAGAGAGAGAGAGAGAGAGAGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123552018	C C	CGAGAGAG others(17): Show CGAGAGAGAGAGAGAGAGACAGAGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	162	0.0062	24	c.993 others(41): Show c.993+5551_993+5552insTCTCTGTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	13/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123710560	C C	CACACACA others(17): Show CACACACACACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01981.hp2 HG01109.hp2 HG01981.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0004 a0001c0008t0001 a0001c0002t0004 a0001c0008t0001	a0001c0002t0004g0112 a0001c0008t0001g0064 a0001c0002t0004g0112 a0001c0008t0001g0064	2	162	0.0124	24	c.303 others(43): Show c.303-33772_303-33771insATGTGTGTGTGTGTGTGTGTGTGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123711487	A A	AAATATAT others(17): Show AAATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	162	0.0062	24	c.303 others(43): Show c.303-34699_303-34698insCATATATACATATATATATATATT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123728479	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	162	0.0062	24	c.302 others(43): Show c.302+29200_302+29223dupTTTTTTTTTTTTTTTTTTTTTTTT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123740899	T T	TGAGAGAG others(17): Show TGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0045 a0001c0001t0003g0045	1	162	0.0062	24	c.302 others(43): Show c.302+16780_302+16803dupTCTCTCTCTCTCTCTCTCTCTCTC	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	5/23			chr9	TogoVar
DENND1B_chr1_197499748_197780480	197545028	G G	GAGGAGAA others(17): Show GAGGAGAAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02258.hp2 HG02647.hp2 others(14): Show HG01884.hp2 HG02258.hp2 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp1 HG02970.hp2 HG03041.hp2 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG04228.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0051 a0001c0003t0026 a0001c0003t0027 a0001c0003t0050 a0001c0003t0052	a0001c0001t0001g0223 a0001c0001t0001g0267 a0001c0001t0007g0018 others(14): Show a0001c0001t0001g0223 a0001c0001t0001g0267 a0001c0001t0007g0018 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0264 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0009g0251 a0001c0001t0009g0252 a0001c0001t0051g0263 a0001c0003t0026g0069 a0001c0003t0026g0070 a0001c0003t0027g0198 a0001c0003t0027g0215 a0001c0003t0050g0202 a0001c0003t0052g0138	17	280	0.0607	24	c.135 others(41): Show c.1350+870_1350+893dupTCTCCTTCTCCTTCTCCTTCTCCT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197545049	G G	GAGAAGGA others(17): Show GAGAAGGAGAAGGAGAAGGAGAAGA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	280	0.0036	24	c.135 others(41): Show c.1350+872_1350+873insTCTTCTCCTTCTCCTTCTCCTTCT	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	18/22			chr1	TogoVar
DENND1B_chr1_197499748_197780480	197670443	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03834.hp1 NA19000.hp1 NA19007.hp2 HG03834.hp1 NA19000.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0047 a0001c0001t0001 a0001c0001t0047	a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0047g0212 a0001c0001t0001g0167 a0001c0001t0001g0170 a0001c0001t0047g0212	3	280	0.0107	24	c.296 others(41): Show c.296+1570_296+1593dupCACACACACACACACACACACACA	DENND1B	ENSG00000213047.13	transcript	ENST00000620048.6	protein_coding	5/22			chr1	TogoVar

Search by Variant

Search

Search Results