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
UNC5D_chr8_35230475_35801540	35512535	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0022 a0001c0003t0003g0022	1	57	0.0175	14	c.104 others(33): Show c.104-36754_104-36753insATATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512535	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02886.hp2 HG01928.hp1 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0015 a0001c0004t0003 a0001c0002t0015 a0001c0004t0003	a0001c0002t0015g0043 a0001c0004t0003g0004 a0001c0002t0015g0043 a0001c0004t0003g0004	2	58	0.0345	14	c.104 others(33): Show c.104-36756_104-36755insGTATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35512539	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0021 a0001c0002t0001g0021	1	28	0.0357	14	c.104 others(33): Show c.104-36752_104-36751insGTATATATATATAT	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(7): Show ATATATATATATATC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00438.hp1 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0053 a0001c0001t0019g0011 a0001c0001t0001g0053 a0001c0001t0019g0011	2	3	0.6667	14	c.104 others(33): Show c.104-36722_104-36721insATATATATATATCT	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(7): Show ATATATATATATCTC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	2	0.5000	14	c.104 others(33): Show c.104-36722_104-36721insATATATATATCTCT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35538395	T T	TTTTATAT others(7): Show TTTTATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0035 a0001c0001t0004g0035	1	9	0.1111	14	c.104 others(33): Show c.104-10896_104-10895insTTATATATATATAT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35737300	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0045 a0001c0002t0008g0045	1	44	0.0227	14	c.176 others(33): Show c.1766+6205_1766+6206insGTGTGTGTGTGTTT	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TAAAAAAA others(7): Show TAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02896.hp1 HG02922.hp2 others(4): Show HG02129.hp2 HG02896.hp1 HG02922.hp2 HG03130.hp2 HG03471.hp1 HG03490.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0042 others(4): Show a0001c0001t0001g0017 a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0029 a0001c0001t0002g0059	7	30	0.2333	14	c.193 others(31): Show c.1936-581_1936-580insAAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93459674	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18944.hp1 NA18968.hp1 others(1): Show HG02280.hp1 NA18944.hp1 NA18968.hp1 NA19060.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0002 a0003c0022 a0005c0018 a0001c0002 a0003c0022 a0005c0018	a0001c0002t0001 a0003c0022t0001 a0005c0018t0001 a0001c0002t0001 a0003c0022t0001 a0005c0018t0001	a0001c0002t0001g0183 a0003c0022t0001g0130 a0005c0018t0001g0184 others(1): Show a0001c0002t0001g0183 a0003c0022t0001g0130 a0005c0018t0001g0184 a0005c0018t0001g0185	4	70	0.0571	14	c.23- others(29): Show c.23-7996_23-7983dupTTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660520	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG03831.hp2 NA19000.hp2 others(1): Show HG01099.hp2 HG03831.hp2 NA19000.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 others(1): Show a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0002t0001g0167	4	73	0.0548	14	c.685 others(33): Show c.6858+1290_6858+1303dupATATATATATATAT	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(7): Show ATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02723.hp2 HG00438.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0015 a0001c0002t0001g0193 a0001c0002t0001g0015 a0001c0002t0001g0193	2	118	0.0169	14	c.685 others(33): Show c.6858+1303_6858+1304insATATATATATATGT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	42/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC79_chr14_93425939_93712876	93660563	A A	ATATATGT others(7): Show ATATATGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0001 a0002c0010t0001	a0002c0010t0001g0092 a0002c0010t0001g0092	1	117	0.0085	14	c.685 others(33): Show c.6858+1303_6858+1304insATATGTGTGTGTGT	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(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02818.hp1 others(1): Show HG00639.hp1 HG02451.hp1 HG02818.hp1 NA20129.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0009c0033 a0001c0001 a0009c0033	a0001c0001t0001 a0009c0033t0001 a0001c0001t0001 a0009c0033t0001	a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0143 others(1): Show a0001c0001t0001g0012 a0001c0001t0001g0132 a0001c0001t0001g0143 a0009c0033t0001g0007	4	64	0.0625	14	c.788 others(33): Show c.7881+1485_7881+1498dupAAAAAAAAAAAAAA	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	50/51		INFO_REALIGN_3_PRIME	chr14	TogoVar
UNC80_chr2_209766832_210004296	209786980	C C	CATATATA others(7): Show CATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0020 a0004c0020	a0004c0020t0006 a0004c0020t0006	a0004c0020t0006g0092 a0004c0020t0006g0092	1	6	0.1667	14	c.724 others(29): Show c.724+817_724+830dupTATATATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	5/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209866527	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0011 a0001c0003t0002g0011	1	154	0.0065	14	c.362 others(33): Show c.3628-6224_3628-6223insCACACATACACACA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	22/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC93B1_chr11_67986100_68009097	67987215	G G	GTAAATAA others(7): Show GTAAATAAAATAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	179	0.0056	14	c.43 others(25): Show c.4330_*4331insTTTTATTTTATTTA	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3884		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67987232	A A	AAAGTAAA others(7): Show AAAGTAAAATAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 NA18964.hp1 HG00408.hp2 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0001 a0001c0001t0001g0002	2	368	0.0054	14	c.43 others(25): Show c.4313_*4314insATTTTATTTTACTT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding		3867		chr11	TogoVar
UNC93B1_chr11_67986100_68009097	67995576	G G	GCCCCCCC others(7): Show GCCCCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0085 a0001c0003t0003g0085	1	143	0.0070	14	c.136 others(29): Show c.1363+34_1363+35insGGGGGGGGGGGGGG	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	9/10			chr11	TogoVar
UNC93B1_chr11_67986100_68009097	68002185	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03654.hp1 HG03486.hp2 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0177 a0001c0002t0002g0178	2	22	0.0909	14	c.392 others(29): Show c.392+823_392+836dupGTGTGTGTGTGTGT	UNC93B1	ENSG00000110057.9	transcript	ENST00000227471.7	protein_coding	3/10			chr11	TogoVar
UNG_chr12_109092597_109115992	109104055	G G	GTTTTTTG others(7): Show GTTTTTTGGTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03209.hp2 NA20300.hp1 HG01891.hp2 HG03209.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0016g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0016g0290	3	167	0.0180	14	c.801 others(29): Show c.801+451_801+452insGTTTTTTTTTTTTG	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109104055	G G	GTTTTTTG others(7): Show GTTTTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(62): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG01496.hp2 HG01884.hp2 HG01891.hp1 HG01975.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02056.hp2 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG03017.hp1 HG03041.hp1 HG03195.hp1 HG03927.hp2 HG06807.hp1 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18966.hp2 NA18967.hp2 NA18977.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18985.hp2 NA18987.hp2 NA18988.hp2 NA18990.hp1 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19054.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19081.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0012 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0223 a0001c0001t0001g0248 a0001c0001t0005g0030 a0001c0001t0012g0113 a0001c0003t0001g0071 a0001c0003t0001g0073 a0001c0003t0001g0074	65	229	0.2838	14	c.801 others(29): Show c.801+457_801+458insTTTTTTTGTTTTTT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNG_chr12_109092597_109115992	109104062	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0246 a0001c0001t0001g0227 a0001c0001t0001g0246	2	442	0.0045	14	c.801 others(29): Show c.801+457_801+458insTTTTTTTTTTTTTT	UNG	ENSG00000076248.12	transcript	ENST00000242576.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr12	TogoVar
UNKL_chr16_1358205_1419704	1380673	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0030 a0001c0013t0030	a0001c0013t0030g0013 a0001c0013t0030g0013	1	15	0.0667	14	c.126 others(33): Show c.1264+4521_1264+4534dupAAAAAAAAAAAAAA	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
UNKL_chr16_1358205_1419704	1400417	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0307 a0001c0001t0021g0307	1	2	0.5000	14	c.599 others(29): Show c.599-922_599-909dupTTTTTTTTTTTTTT	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	4/14			chr16	TogoVar
UNK_chr17_75779806_75830799	75782239	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00423.hp2 others(40): Show HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00639.hp2 HG01071.hp2 HG01167.hp2 HG01168.hp2 HG01255.hp1 HG01515.hp1 HG01515.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp1 HG02257.hp2 HG02523.hp1 HG02559.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03195.hp2 HG03834.hp2 NA18939.hp2 NA18964.hp1 NA18980.hp2 NA18992.hp1 NA19002.hp1 NA19030.hp2 NA19055.hp1 NA19065.hp1 NA19067.hp1 NA19076.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp1 NA19089.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0021	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0002t0010 a0001c0003t0002 a0001c0008t0005 a0001c0010t0003 a0001c0021t0001	a0001c0001t0001g0074 a0001c0001t0003g0028 a0001c0001t0003g0031 others(38): Show a0001c0001t0001g0074 a0001c0001t0003g0028 a0001c0001t0003g0031 a0001c0001t0003g0050 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0022 a0001c0002t0001g0048 a0001c0002t0001g0056 a0001c0002t0001g0069 a0001c0002t0001g0076 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0185 a0001c0002t0001g0192 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0209 a0001c0002t0001g0221 a0001c0002t0006g0043 a0001c0002t0006g0047 a0001c0002t0006g0173 a0001c0002t0006g0174 a0001c0002t0006g0176 a0001c0002t0009g0079 a0001c0002t0009g0080 a0001c0002t0009g0222 a0001c0002t0010g0032 a0001c0002t0010g0200 a0001c0002t0010g0201 a0001c0003t0002g0249 a0001c0008t0005g0212 a0001c0010t0003g0027 a0001c0010t0003g0030 a0001c0021t0001g0003	43	146	0.2945	14	c.-26 others(25): Show c.-2642_-2641insTTTTTTTTTTTTTT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding		2566		chr17	TogoVar
UNK_chr17_75779806_75830799	75805810	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01074.hp1 HG03453.hp1 others(7): Show HG00423.hp2 HG01074.hp1 HG03453.hp1 HG03579.hp1 NA18954.hp1 NA18962.hp1 NA18970.hp1 NA19005.hp1 NA19007.hp1 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0006 others(1): Show a0001c0002 a0001c0003 a0001c0006 a0001c0011	a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 others(1): Show a0001c0002t0001 a0001c0003t0002 a0001c0006t0001 a0001c0011t0004	a0001c0002t0001g0204 a0001c0002t0001g0209 a0001c0003t0002g0024 others(7): Show a0001c0002t0001g0204 a0001c0002t0001g0209 a0001c0003t0002g0024 a0001c0003t0002g0085 a0001c0003t0002g0086 a0001c0003t0002g0088 a0001c0003t0002g0117 a0001c0003t0002g0257 a0001c0006t0001g0258 a0001c0011t0004g0197	10	105	0.0952	14	c.105 others(31): Show c.105-3928_105-3915dupGTGTGTGTGTGTGT	UNK	ENSG00000132478.10	transcript	ENST00000589666.6	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr17	TogoVar
UPB1_chr22_24490332_24533390	24496400	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	338	0.0030	14	c.104 others(29): Show c.104+896_104+897insCACACACACATACA	UPB1	ENSG00000100024.15	transcript	ENST00000326010.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPB1_chr22_24490332_24533390	24496402	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03130.hp1 HG02976.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	2	301	0.0066	14	c.104 others(29): Show c.104+896_104+897insCACACACACACATA	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(7): Show CATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG02055.hp1 HG01255.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0004 a0001c0001t0001 a0001c0005t0004	a0001c0001t0001g0134 a0001c0005t0004g0160 a0001c0001t0001g0134 a0001c0005t0004g0160	2	87	0.0230	14	c.-29 others(25): Show c.-2939_-2938insATATATATATATAT	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2687		chr19	TogoVar
UPF1_chr19_18826959_18873230	18829629	A A	ACATATAT others(7): Show ACATATATATATGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	384	0.0026	14	c.-25 others(25): Show c.-2581_-2580insCATATATATATGTG	UPF1	ENSG00000005007.14	transcript	ENST00000262803.10	protein_coding		2329		chr19	TogoVar
UPF2_chr10_11915022_12047809	11938842	G G	GTTTTTTT others(7): Show GTTTTTTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 NA19030.hp1 HG02647.hp2 HG02922.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0002 a0001c0001t0010	a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0010g0002 a0001c0001t0002g0174 a0001c0001t0002g0189 a0001c0001t0010g0002	3	313	0.0096	14	c.337 others(33): Show c.3379-2144_3379-2131dupAAACAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938857	T T	TTTTTTTT others(7): Show TTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0190 a0001c0001t0002g0190	1	332	0.0030	14	c.337 others(33): Show c.3379-2146_3379-2145insCAAACAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938866	T T	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19043.hp1 HG00621.hp1 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0007 a0001c0001 a0003c0007	a0001c0001t0002 a0003c0007t0002 a0001c0001t0002 a0003c0007t0002	a0001c0001t0002g0163 a0003c0007t0002g0143 a0001c0001t0002g0163 a0003c0007t0002g0143	2	332	0.0060	14	c.337 others(33): Show c.3379-2155_3379-2154insCAAAAAAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF2_chr10_11915022_12047809	11938868	T T	TTTTTTTT others(7): Show TTTTTTTTTGTTTTG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	325	0.0031	14	c.337 others(33): Show c.3379-2157_3379-2156insCAAAACAAAAAAAA	UPF2	ENSG00000151461.20	transcript	ENST00000357604.10	protein_coding	18/21			chr10	TogoVar
UPF3B_chrX_119829022_119857963	119842605	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG03139.hp1 HG02135.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0021 a0001c0001t0003g0100 a0001c0001t0002g0021 a0001c0001t0003g0100	2	78	0.0256	14	c.580 others(29): Show c.580+572_580+585dupGTGTGTGTGTGTGT	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	5/10			chrX	TogoVar
UPF3B_chrX_119829022_119857963	119851748	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp1 HG00735.hp2 others(21): Show HG00438.hp1 HG00621.hp1 HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01255.hp1 HG01928.hp1 HG02055.hp1 HG02083.hp1 HG02572.hp1 HG02738.hp1 HG03098.hp1 HG03834.hp1 HG04115.hp1 HG04199.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18974.hp1 NA19000.hp1 NA19067.hp1 NA19068.hp1 NA19078.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 others(17): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076	24	26	0.9231	14	c.263 others(26): Show c.263+5_263+18dupAAAAAAAAAAAAAA	UPF3B	ENSG00000125351.14	transcript	ENST00000276201.7	protein_coding	2/10			chrX	TogoVar
UPK1A_chr19_35661517_35683481	35682244	A A	AATATATA others(7): Show AATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp2 HG02258.hp1 HG02622.hp2 others(5): Show HG01123.hp2 HG02258.hp1 HG02622.hp2 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03098.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0023 a0001c0001t0002g0011 a0001c0001t0002g0122 others(2): Show a0001c0001t0001g0023 a0001c0001t0002g0011 a0001c0001t0002g0122 a0001c0001t0002g0202 a0001c0001t0002g0203	8	168	0.0476	14	c.42 others(25): Show c.4225_*4226insATATATATATATAT	UPK1A	ENSG00000105668.8	transcript	ENST00000222275.3	protein_coding		3764		chr19	TogoVar
UPK1B_chr3_119168598_119210143	119179352	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02135.hp2 others(6): Show HG01070.hp2 HG01071.hp2 HG02135.hp2 HG02683.hp1 HG02717.hp2 NA18946.hp2 NA18989.hp1 NA19001.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0108 others(5): Show a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0288 a0001c0001t0001g0302 a0001c0001t0002g0336 a0002c0002t0001g0008	9	214	0.0421	14	c.-29 others(31): Show c.-29+5747_-29+5760dupATATATATATATAT	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(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG01069.hp2 others(14): Show HG00408.hp2 HG00558.hp2 HG01069.hp2 HG01358.hp2 HG01361.hp2 HG03239.hp1 HG04115.hp2 NA18947.hp2 NA18987.hp1 NA18989.hp1 NA19010.hp2 NA19057.hp2 NA19060.hp2 NA19064.hp2 NA19066.hp1 NA19072.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0003	a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0120 others(12): Show a0001c0001t0001g0004 a0001c0001t0001g0090 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0202 a0001c0001t0001g0329 a0001c0001t0001g0377 a0001c0001t0002g0376 a0002c0002t0001g0121 a0003c0003t0003g0089 a0003c0003t0003g0124	17	128	0.1328	14	c.-29 others(31): Show c.-29+5876_-29+5889dupTTTTTTTTTTTTTT	UPK1B	ENSG00000114638.8	transcript	ENST00000264234.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
UPK3A_chr22_45279949_45300874	45285630	G G	GAGGGTGT others(7): Show GAGGGTGTTTTTACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp2 others(198): Show HG00099.hp1 HG00099.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02015.hp1 HG02056.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp2 HG02486.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18966.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18986.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18991.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19054.hp1 NA19055.hp1 NA19056.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19078.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0005 a0010 others(1): Show a0001 a0005 a0010 a0011	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0013 a0001c0022 a0005c0023 a0010c0026 a0011c0025	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(10): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0002 a0001c0013t0002 a0001c0022t0001 a0005c0023t0001 a0010c0026t0001 a0011c0025t0002	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 others(71): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0003g0001 a0001c0002t0001g0208 a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0002t0002g0055 a0001c0002t0002g0210 a0001c0002t0002g0211 a0001c0002t0002g0212 a0001c0002t0002g0214 a0001c0002t0002g0215 a0001c0002t0002g0217 a0001c0002t0002g0218 a0001c0002t0002g0219 a0001c0002t0002g0220 a0001c0002t0002g0221 a0001c0003t0001g0012 a0001c0003t0001g0027 a0001c0003t0001g0028 a0001c0003t0001g0044 a0001c0003t0001g0047 a0001c0003t0001g0168 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0191 a0001c0003t0001g0192 a0001c0003t0001g0194 a0001c0003t0001g0196 a0001c0003t0001g0197 a0001c0003t0001g0202 a0001c0003t0001g0204 a0001c0005t0001g0001 a0001c0005t0001g0029 a0001c0005t0001g0045 a0001c0005t0001g0046 a0001c0005t0001g0201 a0001c0006t0001g0003 a0001c0006t0001g0012 a0001c0006t0001g0047 a0001c0006t0001g0167 a0001c0006t0001g0183 a0001c0006t0001g0195 a0001c0006t0001g0200 a0001c0006t0001g0205 a0001c0007t0002g0213 a0001c0013t0002g0054 a0001c0022t0001g0003 a0005c0023t0001g0209 a0010c0026t0001g0193 a0011c0025t0002g0216	201	441	0.4558	14	c.53- others(27): Show c.53-307_53-306insTGTTTTTACTAGGG	UPK3A	ENSG00000100373.10	transcript	ENST00000216211.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr22	TogoVar
UPK3BL1_chr7_102632025_102647791	102643232	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	67	0.0149	14	c.-49 others(23): Show c.-492_-491insTTTTTTTTTTTTTT	UPK3BL1	ENSG00000267368.1	transcript	ENST00000340457.8	protein_coding		442		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102540855	C C	CAAAACAA others(7): Show CAAAACAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01517.hp1 others(7): Show HG00280.hp1 HG00639.hp1 HG01517.hp1 NA18982.hp1 NA18991.hp1 NA19000.hp1 NA19012.hp1 NA19054.hp1 NA19054.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0003 a0001c0001t0001g0001 a0001c0001t0002g0003	10	82	0.1220	14	c.485 others(29): Show c.485+237_485+238insTTTTTTTTTGTTTT	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding	3/5			chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547813	G G	GGAAAGAA others(7): Show GGAAAGAAAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02165.hp2 NA18943.hp2 others(2): Show HG00438.hp2 HG02165.hp2 NA18943.hp2 NA19004.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	5	180	0.0278	14	c.-41 others(25): Show c.-4178_-4177insTTTCTTTTTCTTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4118		chr7	TogoVar
UPK3BL2_chr7_102532919_102548696	102547832	G G	GGAAGAAG others(7): Show GGAAGAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	30	0.0333	14	c.-41 others(25): Show c.-4197_-4196insTTTCTTTCTTCTTC	UPK3BL2	ENSG00000284981.2	transcript	ENST00000644544.2	protein_coding		4137		chr7	TogoVar
UPP1_chr7_48084265_48113736	48087857	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	258	0.0039	14	c.-17 others(25): Show c.-1760_-1759insTTTTTTTTTTTTTT	UPP1	ENSG00000183696.14	transcript	ENST00000395564.9	protein_coding		1407		chr7	TogoVar
UQCC1_chr20_35297578_35416973	35410704	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0030 a0002c0002t0001g0030	1	57	0.0175	14	c.24+ others(29): Show c.24+1222_24+1235dupTTTTTTTTTTTTTT	UQCC1	ENSG00000101019.22	transcript	ENST00000374385.10	protein_coding	1/9			chr20	TogoVar
UQCC4_chr16_1414752_1425747	1423663	C C	CGGTAAAG others(7): Show CGGTAAAGACTCTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	362	0.0028	14	c.-29 others(25): Show c.-2941_-2940insCCAGAGTCTTTACC	UQCC4	ENSG00000174109.5	transcript	ENST00000442039.3	protein_coding		2917		chr16	TogoVar
UQCC5_chr3_52531605_52546890	52533776	C C	CCCGCCCG others(7): Show CCCGCCCGCCGCCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG01123.hp1 others(10): Show HG00673.hp1 HG00735.hp1 HG01123.hp1 HG01258.hp1 HG01261.hp1 HG01928.hp1 HG01975.hp2 HG02293.hp2 HG02735.hp2 HG03831.hp2 HG04115.hp1 HG04115.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0021	13	227	0.0573	14	c.-29 others(25): Show c.-2980_-2979insCCGCCCGCCGCCCG	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		2828		chr3	TogoVar
UQCC5_chr3_52531605_52546890	52533803	C C	CGCCGCCC others(7): Show CGCCGCCCGCCGCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02622.hp2 HG02965.hp2 others(7): Show HG02486.hp1 HG02622.hp2 HG02965.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp2 HG03486.hp2 NA19030.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0004 a0001c0001t0004g0004	10	367	0.0272	14	c.-29 others(25): Show c.-2953_-2952insGCCGCCCGCCGCCT	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		2801		chr3	TogoVar
UQCC5_chr3_52531605_52546890	52542619	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG01081.hp2 HG01167.hp1 others(25): Show HG00544.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp2 HG02015.hp1 HG02132.hp2 HG02258.hp2 HG02615.hp2 HG02698.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 NA18747.hp2 NA18961.hp1 NA19074.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012	28	33	0.8485	14	c.21 others(25): Show c.2134_*2135insAAAAAAAAAAAAAA	UQCC5	ENSG00000168273.8	transcript	ENST00000477703.6	protein_coding		730		chr3	TogoVar

Search by Variant

Search

Search Results