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
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01169.hp2 HG02027.hp1 others(13): Show HG00609.hp1 HG01169.hp2 HG02027.hp1 HG03710.hp2 NA18946.hp2 NA18961.hp2 NA18969.hp1 NA18975.hp1 NA18975.hp2 NA18988.hp2 NA19000.hp1 NA19004.hp2 NA19074.hp1 NA19086.hp1 NA19086.hp2 NA19091.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(5): Show a0001c0003 a0001c0004 a0001c0005 a0002c0001 a0002c0002 a0002c0007 a0002c0016 a0002c0025	a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 others(8): Show a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0002c0001t0002 a0002c0001t0005 a0002c0002t0001 a0002c0002t0005 a0002c0007t0001 a0002c0007t0002 a0002c0016t0002 a0002c0025t0001	a0001c0003t0001g0020 a0001c0003t0001g0121 a0001c0004t0001g0139 others(13): Show a0001c0003t0001g0020 a0001c0003t0001g0121 a0001c0004t0001g0139 a0001c0005t0001g0099 a0002c0001t0002g0138 a0002c0001t0005g0122 a0002c0001t0005g0125 a0002c0001t0005g0130 a0002c0001t0005g0145 a0002c0002t0001g0118 a0002c0002t0005g0094 a0002c0007t0001g0101 a0002c0007t0002g0096 a0002c0007t0002g0166 a0002c0016t0002g0068 a0002c0025t0001g0143	16	86	0.1860	16	c.125 others(35): Show c.125-88903_125-88888dupAAAAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95448223	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0011 a0001c0009t0011	a0001c0009t0011g0005 a0001c0009t0011g0005	1	146	0.0068	16	c.124 others(37): Show c.124+100510_124+100511insTCTCTCTCTCTCTCTC	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95448225	T T	TGAGAGAG others(9): Show TGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0135 a0001c0004t0007g0135	1	94	0.0106	16	c.124 others(37): Show c.124+100508_124+100509insTCTCTCTCTCTCTCTC	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95448230	G G	GAGAGAGA others(9): Show GAGAGAGAGAGAGAGAC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03486.hp2 HG02976.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0020 a0001c0004 a0001c0020	a0001c0004t0003 a0001c0020t0001 a0001c0004t0003 a0001c0020t0001	a0001c0004t0003g0014 a0001c0020t0001g0185 a0001c0004t0003g0014 a0001c0020t0001g0185	2	204	0.0098	16	c.124 others(37): Show c.124+100503_124+100504insGTCTCTCTCTCTCTCT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95525596	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02965.hp2 others(1): Show HG02622.hp1 HG02647.hp2 HG02965.hp2 HG03704.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0004 a0001c0012 a0002c0008 others(1): Show a0001c0004 a0001c0012 a0002c0008 a0010c0039	a0001c0004t0038 a0001c0012t0006 a0002c0008t0002 others(1): Show a0001c0004t0038 a0001c0012t0006 a0002c0008t0002 a0010c0039t0001	a0001c0004t0038g0173 a0001c0012t0006g0170 a0002c0008t0002g0052 others(1): Show a0001c0004t0038g0173 a0001c0012t0006g0170 a0002c0008t0002g0052 a0010c0039t0001g0117	4	42	0.0952	16	c.124 others(35): Show c.124+23122_124+23137dupTTTTTTTTTTTTTTTT	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230490	A A	AACACACA others(9): Show AACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02965.hp2 HG03130.hp1 HG02630.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0025 a0001c0001t0004 a0001c0001t0025	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0025g0026 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0025g0026	3	60	0.0500	16	c.-52 others(27): Show c.-5295_-5294insACACACACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4984		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35305577	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03209.hp2 HG02896.hp2 HG02897.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0010 a0001c0002t0009 a0001c0003t0005 a0001c0001t0010 a0001c0002t0009 a0001c0003t0005	a0001c0001t0010g0064 a0001c0002t0009g0063 a0001c0003t0005g0048 a0001c0001t0010g0064 a0001c0002t0009g0063 a0001c0003t0005g0048	3	16	0.1875	16	c.103 others(35): Show c.103+69722_103+69737dupCTTTCTTTCTTTCTTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35324233	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0055 a0001c0002t0006g0055	1	40	0.0250	16	c.103 others(35): Show c.103+88352_103+88367dupAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35413292	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGTTGTG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03688.hp2 HG02630.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0013 a0001c0001t0001g0014	2	12	0.1667	16	c.104 others(37): Show c.104-136000_104-135999insGTGTGTGTGTGTTGTG	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16			chr8	TogoVar
UNC5D_chr8_35230475_35801540	35487593	A A	ACACACAC others(9): Show ACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 HG03130.hp1 HG02559.hp1 HG02965.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0003 a0001c0001t0004 a0001c0004t0003	a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0004t0003g0046 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0004t0003g0046	3	60	0.0500	16	c.104 others(35): Show c.104-61698_104-61697insACACACACACACACCC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512569	A A	ATATATAT others(9): Show ATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02615.hp2 HG02630.hp1 others(8): Show HG00597.hp1 HG02615.hp2 HG02630.hp1 HG02717.hp1 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG03130.hp1 HG03209.hp2 HG03516.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0016 a0001c0001t0025 a0001c0002t0007 a0001c0002t0024 a0001c0003t0005 a0001c0003t0023	a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0004g0024 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0052 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0016g0019 a0001c0001t0025g0026 a0001c0002t0007g0003 a0001c0002t0024g0027 a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0023g0005	11	12	0.9167	16	c.104 others(35): Show c.104-36722_104-36721insATATATATATATATCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512569	A A	ATATATAT others(9): Show ATATATATATATCTCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0004 a0001c0006t0004	a0001c0006t0004g0031 a0001c0006t0004g0031	1	2	0.5000	16	c.104 others(35): Show c.104-36722_104-36721insATATATATATCTCTCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35587965	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0008 a0001c0003t0003g0008	1	7	0.1429	16	c.467 others(33): Show c.467-7575_467-7560dupTATATATATATATATA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	24	0.0417	16	c.193 others(33): Show c.1936-581_1936-580insAAAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TTTGTAAA others(9): Show TTTGTAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02615.hp2 HG03209.hp2 HG01123.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0012 a0001c0003t0005 a0001c0003t0012	a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0012g0058 a0001c0003t0005g0041 a0001c0003t0005g0048 a0001c0003t0012g0058	3	26	0.1154	16	c.193 others(33): Show c.1936-593_1936-592insTTGTAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16			chr8	TogoVar
UNC79_chr14_93425939_93712876	93479172	T T	TTTCCTTC others(9): Show TTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03209.hp2 others(1): Show HG02896.hp2 HG02897.hp2 HG03209.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0030 a0001c0001 a0001c0005 a0001c0030	a0001c0001t0001 a0001c0005t0001 a0001c0030t0001 a0001c0001t0001 a0001c0005t0001 a0001c0030t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0005t0001g0110 others(1): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0005t0001g0110 a0001c0030t0001g0056	4	53	0.0755	16	c.619 others(33): Show c.619+1487_619+1502dupCCTTCCTTCCTTCCTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	4/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93558593	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0044 a0006c0013t0001g0044	1	3	0.3333	16	c.175 others(37): Show c.1756-13272_1756-13257dupTTTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	14/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATAT others(9): Show ATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02293.hp1 NA19079.hp2 HG02293.hp1 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0031 a0001c0001t0001g0032	2	118	0.0169	16	c.685 others(35): Show c.6858+1303_6858+1304insATATATATATATATGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATAT others(9): Show ATATATATATGTGTGTG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02647.hp2 HG02257.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0001 a0002c0003t0001 a0001c0002t0001 a0002c0003t0001	a0001c0002t0001g0187 a0002c0003t0001g0103 a0001c0002t0001g0187 a0002c0003t0001g0103	2	118	0.0169	16	c.685 others(35): Show c.6858+1303_6858+1304insATATATATGTGTGTGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93695890	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01517.hp1 HG01168.hp2 HG01517.hp1	a0001 a0001	a0001c0006 a0001c0020 a0001c0006 a0001c0020	a0001c0006t0001 a0001c0020t0001 a0001c0006t0001 a0001c0020t0001	a0001c0006t0001g0181 a0001c0020t0001g0083 a0001c0006t0001g0181 a0001c0020t0001g0083	2	62	0.0323	16	c.788 others(35): Show c.7881+1483_7881+1498dupAAAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209844451	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00738.hp1 HG01175.hp1 others(9): Show HG00408.hp1 HG00738.hp1 HG01175.hp1 HG01433.hp2 HG02055.hp2 HG02622.hp2 HG03239.hp2 HG03486.hp1 NA18957.hp1 NA18957.hp2 NA19056.hp2 NA19062.hp1	a0001 a0002 a0008 others(2): Show a0001 a0002 a0008 a0009 a0015	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0002c0033 a0008c0054 a0009c0030 a0015c0039	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0004t0001 a0002c0033t0001 a0008c0054t0002 a0009c0030t0002 a0015c0039t0003	a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0070 others(9): Show a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0003g0158 a0001c0001t0004g0162 a0001c0001t0004g0163 a0001c0002t0001g0099 a0001c0004t0001g0031 a0002c0033t0001g0071 a0008c0054t0002g0103 a0009c0030t0002g0064 a0015c0039t0003g0152	12	120	0.1000	16	c.345 others(35): Show c.3454+2018_3454+2033dupTTTCTTTCTTTCTTTC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	21/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866488	C C	CCACACAC others(9): Show CCACACACACAAACACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02109.hp2 HG02559.hp1 others(3): Show HG01069.hp1 HG02109.hp2 HG02559.hp1 HG03486.hp1 HG03516.hp1 NA20129.hp1	a0002 a0002	a0002c0011 a0002c0018 a0002c0033 a0002c0011 a0002c0018 a0002c0033	a0002c0011t0001 a0002c0018t0001 a0002c0033t0001 a0002c0011t0001 a0002c0018t0001 a0002c0033t0001	a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 others(3): Show a0002c0011t0001g0007 a0002c0011t0001g0008 a0002c0011t0001g0010 a0002c0018t0001g0005 a0002c0018t0001g0006 a0002c0033t0001g0071	6	160	0.0375	16	c.362 others(35): Show c.3628-6269_3628-6268insACACACACAAACACAC	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209955692	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0177 a0001c0001t0012g0177	1	91	0.0110	16	c.745 others(35): Show c.7457+1454_7457+1469dupTATATATATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	48/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNG_chr12_109092597_109115992	109106916	T T	TACACATA others(9): Show TACACATATATATATAC	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	450	0.0022	16	c.802 others(33): Show c.802-2913_802-2912insACACATATATATATAC	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6			chr12	TogoVar
UNKL_chr16_1358205_1419704	1380673	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0297 a0001c0001t0017g0297	1	15	0.0667	16	c.126 others(35): Show c.1264+4519_1264+4534dupAAAAAAAAAAAAAAAA	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(9): Show ATTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01169.hp2 HG01433.hp1 others(17): Show HG01109.hp1 HG01169.hp2 HG01433.hp1 HG02109.hp2 HG02572.hp1 HG02895.hp2 HG02970.hp1 HG03017.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03516.hp2 HG03654.hp2 HG03831.hp2 HG04115.hp1 HG04228.hp2 NA18942.hp1 NA19003.hp2 NA19056.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0014 a0001c0003t0002 a0001c0004t0001 a0001c0008t0005 a0001c0011t0004	a0001c0001t0001g0075 a0001c0001t0001g0188 a0001c0001t0003g0077 others(17): Show a0001c0001t0001g0075 a0001c0001t0001g0188 a0001c0001t0003g0077 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0008 a0001c0002t0001g0033 a0001c0002t0001g0046 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0177 a0001c0002t0001g0218 a0001c0002t0001g0327 a0001c0002t0014g0194 a0001c0003t0002g0100 a0001c0003t0002g0234 a0001c0003t0002g0253 a0001c0004t0001g0216 a0001c0008t0005g0073 a0001c0011t0004g0064	20	123	0.1626	16	c.-26 others(27): Show c.-2642_-2641insTTTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA19043.hp2 NA18995.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0004 a0001c0003t0002 a0001c0002t0004 a0001c0003t0002	a0001c0002t0004g0089 a0001c0003t0002g0266 a0001c0002t0004g0089 a0001c0003t0002g0266	2	97	0.0206	16	c.105 others(33): Show c.105-3930_105-3915dupGTGTGTGTGTGTGTGT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UPB1_chr22_24490332_24533390	24493775	T T	TTCTTTGA others(9): Show TTCTTTGAGATTGCGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0003 a0004c0013t0003	a0004c0013t0003g0120 a0004c0013t0003g0120	1	350	0.0029	16	c.-16 others(27): Show c.-1629_-1628insTCTTTGAGATTGCGTC	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding		1556		chr22	TogoVar
UPB1_chr22_24490332_24533390	24496402	C C	CACACACA others(9): Show CACACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	300	0.0033	16	c.104 others(31): Show c.104+896_104+897insCACACACACACACATA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPF1_chr19_18826959_18873230	18829271	C C	CATATATA others(9): Show CATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01891.hp2 HG02109.hp1 others(3): Show HG00323.hp1 HG01891.hp2 HG02109.hp1 HG02280.hp2 HG02818.hp2 HG03239.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0017 a0001c0003 a0001c0005 a0001c0017	a0001c0003t0004 a0001c0005t0004 a0001c0017t0017 a0001c0003t0004 a0001c0005t0004 a0001c0017t0017	a0001c0003t0004g0173 a0001c0003t0004g0178 a0001c0003t0004g0179 others(3): Show a0001c0003t0004g0173 a0001c0003t0004g0178 a0001c0003t0004g0179 a0001c0003t0004g0180 a0001c0005t0004g0163 a0001c0017t0017g0171	6	91	0.0659	16	c.-29 others(27): Show c.-2939_-2938insATATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829614	T T	TATGTATA others(9): Show TATGTATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 HG02129.hp2 HG02135.hp2 others(9): Show HG00558.hp2 HG02129.hp2 HG02135.hp2 HG03017.hp2 NA18952.hp1 NA18955.hp1 NA18971.hp2 NA19005.hp1 NA19068.hp1 NA19079.hp2 NA19082.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0013 a0001c0001t0001g0200 a0001c0001t0001g0202 others(4): Show a0001c0001t0001g0013 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0215 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0002t0006g0007	12	392	0.0306	16	c.-25 others(27): Show c.-2596_-2595insATGTATATATATATAC	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2344		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829627	A A	ATACATAT others(9): Show ATACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	384	0.0026	16	c.-25 others(27): Show c.-2583_-2582insTACATATATATATGTG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2331		chr19	TogoVar
UPF2_chr10_11915022_12047809	11938853	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18986.hp1 NA18986.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0290 a0001c0002t0001g0290	1	63	0.0159	16	c.337 others(35): Show c.3379-2157_3379-2142dupAAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938868	T T	TTTTTTTT others(9): Show TTTTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	325	0.0031	16	c.337 others(35): Show c.3379-2157_3379-2156insCAAAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11963355	C C	CATTCATT others(9): Show CATTCATTCATTCATTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0013 a0001c0006t0013	a0001c0006t0013g0331 a0001c0006t0013g0331	1	329	0.0030	16	c.218 others(33): Show c.2184+653_2184+654insAAATGAATGAATGAAT	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	11/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	12025548	C C	CTAAATAA others(9): Show CTAAATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03130.hp2 HG03225.hp1 HG02965.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0332 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0001t0001g0332 a0001c0002t0001g0226 a0001c0002t0001g0227	3	198	0.0152	16	c.114 others(35): Show c.1145+3181_1145+3196dupTTTATTTATTTATTTA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	3/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02717.hp1 others(3): Show HG02559.hp2 HG02615.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0056 a0001c0001t0002g0023 a0001c0001t0002g0054 others(2): Show a0001c0001t0001g0056 a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0055 a0002c0002t0001g0053	6	8	0.7500	16	c.263 others(28): Show c.263+3_263+18dupAAAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(9): Show AATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	161	0.0062	16	c.42 others(27): Show c.4225_*4226insATATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	206	0.0049	16	c.-29 others(33): Show c.-29+5745_-29+5760dupATATATATATATATAT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK1B_chr3_119168598_119210143	119179507	C C	CTTTTTTT others(9): Show CTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02257.hp1 HG02559.hp2 others(5): Show HG01981.hp1 HG02257.hp1 HG02559.hp2 HG02723.hp1 HG03041.hp2 HG03486.hp2 NA18522.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0129 others(4): Show a0001c0001t0001g0020 a0001c0001t0001g0081 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0200 a0001c0001t0005g0316 a0001c0001t0005g0317	8	119	0.0672	16	c.-29 others(33): Show c.-29+5874_-29+5889dupTTTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3A_chr22_45279949_45300874	45282183	T T	TAGAAAGA others(9): Show TAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01123.hp1 HG01891.hp2 others(24): Show HG00423.hp1 HG01123.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG02027.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02922.hp1 HG03490.hp2 HG03492.hp1 HG04115.hp1 NA18942.hp2 NA18953.hp1 NA18953.hp2 NA18959.hp1 NA18965.hp1 NA18966.hp2 NA18973.hp1 NA18985.hp1 NA18986.hp1 NA18989.hp2 NA19002.hp1 NA19066.hp1 NA20300.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0009	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0006c0021 a0009c0027	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001 a0006c0021t0001 a0009c0027t0001	a0001c0001t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0008 others(17): Show a0001c0001t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0008 a0001c0003t0001g0017 a0001c0003t0001g0032 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0068 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0080 a0001c0003t0001g0083 a0001c0003t0001g0084 a0001c0005t0001g0013 a0001c0005t0001g0062 a0001c0005t0001g0065 a0001c0005t0001g0071 a0002c0004t0001g0034 a0006c0021t0001g0225 a0009c0027t0001g0085	27	260	0.1038	16	c.-28 others(27): Show c.-2831_-2830insAGAAAGAAAGAAAGAA	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2765		chr22	TogoVar
UPK3A_chr22_45279949_45300874	45282196	A A	AGAAAGAA others(9): Show AGAAAGAAAGAAAGAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0008 a0001c0003t0001g0008	1	442	0.0023	16	c.-28 others(27): Show c.-2818_-2817insGAAAGAAAGAAAGAAC	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2752		chr22	TogoVar
UPK3A_chr22_45279949_45300874	45282223	A A	AAGAAAGA others(9): Show AAGAAAGAAAGAAAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	441	0.0023	16	c.-27 others(27): Show c.-2791_-2790insAGAAAGAAAGAAAGAG	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding		2725		chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102646920	A A	AGAGAAAG others(9): Show AGAGAAAGGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01993.hp2 HG02015.hp1 others(7): Show HG01358.hp1 HG01993.hp2 HG02015.hp1 HG02895.hp2 HG04199.hp2 NA18942.hp1 NA19063.hp1 NA19075.hp1 NA19085.hp1 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0008 a0001c0001 a0001c0003 a0003c0008	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0020 a0001c0003t0003 a0003c0008t0006	a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0005g0008 others(6): Show a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0005g0008 a0001c0001t0006g0006 a0001c0001t0006g0026 a0001c0001t0010g0025 a0001c0001t0020g0060 a0001c0003t0003g0042 a0003c0008t0006g0021	10	120	0.0833	16	c.-41 others(27): Show c.-4180_-4179insCTTTCTTTCCTTTCTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4130		chr7	TogoVar
UPK3BL1_chr7_102632025_102647791	102646923	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG01255.hp2 HG02683.hp2 others(4): Show HG00673.hp2 HG01255.hp2 HG02683.hp2 NA18946.hp2 NA18965.hp2 NA18984.hp2 NA18987.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0002c0002t0002 a0003c0004t0009 a0001c0001t0001 a0002c0002t0002 a0003c0004t0009	a0001c0001t0001g0073 a0001c0001t0001g0075 a0002c0002t0002g0003 others(3): Show a0001c0001t0001g0073 a0001c0001t0001g0075 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0032 a0003c0004t0009g0078	7	57	0.1228	16	c.-41 others(27): Show c.-4183_-4182insTTTCTTTCTTTCTTTC	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		4133		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GAAAAGAA others(9): Show GAAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	30	0.0333	16	c.-41 others(27): Show c.-4197_-4196insTTTCTTTCTTTCTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAAGAA others(9): Show GGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG01258.hp1 HG01346.hp1 others(19): Show HG00280.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01496.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02523.hp1 HG02723.hp1 NA18947.hp2 NA18967.hp2 NA19000.hp1 NA19060.hp1 NA19066.hp1 NA19077.hp1 NA19077.hp2 NA19080.hp1 NA19081.hp1 NA19087.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0003 a0001c0001t0001 a0001c0001t0002 a0002c0002t0003	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0002g0003 a0002c0002t0003g0004	22	51	0.4314	16	c.-41 others(27): Show c.-4197_-4196insTTTCTTTCTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPP1_chr7_48084265_48113736	48087857	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp2 HG03209.hp2 HG03098.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0073 a0001c0001t0001g0008 a0001c0001t0001g0073	2	259	0.0077	16	c.-17 others(27): Show c.-1760_-1759insTTTTTTTTTTTTTTTT	UPP1	ENSG00000183696.14	transcript	ENST00000395564.9	protein_coding		1407		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35321283	T T	TGTGTGTG others(9): Show TGTGTGTGTGTGCGCGC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0244 a0001c0001t0002g0244	1	201	0.0050	16	c.574 others(33): Show c.574-6519_574-6518insGCGCGCACACACACAC	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar
UQCC1_chr20_35297578_35416973	35338886	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0002	1	223	0.0045	16	c.573 others(33): Show c.573+8277_573+8278insATATATATATATATAT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	7/9			chr20	TogoVar

Search by Variant

Search

Search Results