view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UPK3BL1_chr7_102632025_102647791 | 102638317 | ACACCC | A | intron_variant | MODIFIER | HG01358.hp1 HG01993.hp2 HG04199.hp2 others(6): Show |
a0001a0003a0008 | a0001c0001a0003c0008a0008c0009 | a0001c0001t0006a0001c0001t0010a0003c0008t0006others(1): Show | a0001c0001t0006g0006 a0001c0001t0006g0022 a0001c0001t0006g0026 others(4): Show |
9 | 139 | 0.0647 | -5 | c.683 others(20): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102639654 | CCTTCA | C | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(99): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0015 others(71): Show |
102 | 140 | 0.7286 | -5 | c.486 others(20): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102643240 | AAAAAC | A | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01891.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0005a0001c0001t0014others(1): Show | a0001c0001t0004g0013 a0001c0001t0004g0063 a0001c0001t0005g0008 others(2): Show |
6 | 140 | 0.0429 | -5 | c.-50 others(14): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 450 | chr7 | TogoVar | |||||||
UPK3BL1_chr7_102632025_102647791 | 102646608 | GAATTT | G | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02922.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0017 | a0001c0001t0004g0041 a0001c0003t0017g0037 |
2 | 140 | 0.0143 | -5 | c.-38 others(16): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 3818 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102539209 | ACACCC | A | intron_variant | MODIFIER | HG00438.hp1 HG01168.hp1 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0013 |
4 | 180 | 0.0222 | -5 | c.683 others(20): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102540546 | CCTTCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(10): Show |
145 | 180 | 0.8056 | -5 | c.486 others(20): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547517 | GAATTT | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0003t0001g0006 others(1): Show |
44 | 180 | 0.2444 | -5 | c.-38 others(16): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 3822 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547901 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00639.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0002g0003 others(2): Show |
50 | 92 | 0.5435 | -5 | c.-42 others(16): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4206 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158104917 | AAAGGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00639.hp1 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0001g0024 others(34): Show |
47 | 267 | 0.1760 | -5 | c.63- others(20): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPP2_chr2_158096876_158141154 | 158104994 | AGGGAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0016 a0001c0001t0001g0028 a0001c0001t0001g0080 others(47): Show |
61 | 231 | 0.2641 | -5 | c.63- others(20): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35348371 | TTTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(101): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0178 a0001c0001t0002g0149 a0002c0002t0001g0007 others(101): Show |
104 | 243 | 0.4280 | -5 | c.465 others(22): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35384966 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp1 HG01081.hp2 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0004 | a0002c0002t0001g0013 a0002c0002t0001g0016 a0002c0002t0001g0041 others(23): Show |
26 | 140 | 0.1857 | -5 | c.130 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC4_chr16_1414752_1425747 | 1414878 | CGCCCT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(320): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0002g0006 others(7): Show |
323 | 350 | 0.9229 | -5 | c.*53 others(16): Show |
UQCC4 | ENSG00000174109.5 | transcript | ENST00000442039.3 | protein_coding | 4873 | chr16 | TogoVar | |||||||
UQCC5_chr3_52531605_52546890 | 52542619 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG02486.hp1 HG02622.hp2 HG02897.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 12 | 17 | 0.7059 | -5 | c.*21 others(16): Show |
UQCC5 | ENSG00000168273.8 | transcript | ENST00000477703.6 | protein_coding | 730 | chr3 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103959801 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0003 | a0001c0001t0008g0009 a0001c0001t0008g0014 a0001c0001t0008g0026 others(6): Show |
39 | 61 | 0.6393 | -5 | c.-27 others(16): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2587 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103959931 | CCAGCT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 a0001c0001t0002g0008 a0001c0001t0002g0017 others(5): Show |
52 | 460 | 0.1130 | -5 | c.-28 others(16): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 2717 | chr12 | TogoVar | |||||||
UQCRHL_chr1_15802374_15812649 | 15803085 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 55 | 308 | 0.1786 | -5 | c.*42 others(16): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 4288 | chr1 | TogoVar | |||||||
UQCRHL_chr1_15802374_15812649 | 15809313 | TTTTTG | T | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp1 others(48): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003 | a0002c0002t0001a0002c0004t0001a0003c0003t0001 | a0002c0002t0001g0000 a0002c0004t0001g0000 a0003c0003t0001g0000 |
51 | 364 | 0.1401 | -5 | c.-16 others(16): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 1665 | chr1 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46298957 | TCTTTC | T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02717.hp2 HG03834.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(2): Show |
5 | 432 | 0.0116 | -5 | c.-48 others(16): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 4740 | chr1 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46314364 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01109.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0037 others(11): Show |
26 | 408 | 0.0637 | -5 | c.244 others(22): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27980316 | AGCTCC | A | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0002g0017 a0001c0001t0002g0049 others(2): Show |
12 | 426 | 0.0282 | -5 | c.176 others(22): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27981023 | TCTCTC | T | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01978.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0004 a0002c0002t0001g0045 a0003c0003t0001g0012 |
8 | 426 | 0.0188 | -5 | c.176 others(22): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32376569 | ATACTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(94): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0033a0001c0040others(8): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(87): Show |
97 | 336 | 0.2887 | -5 | c.665 others(22): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 5/38 | chr21 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32397698 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02258.hp2 HG02630.hp1 others(7): Show |
a0001a0004a0008others(1): Show | a0001c0009a0004c0045a0008c0059others(2): Show | a0001c0009t0013a0001c0009t0048a0004c0045t0019others(3): Show | a0001c0009t0013g0086 a0001c0009t0013g0088 a0001c0009t0013g0089 others(7): Show |
10 | 130 | 0.0769 | -5 | c.-47 others(16): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 4687 | chr21 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43903136 | AGAGAG | A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0017 a0001c0007t0004g0120 a0001c0007t0004g0121 |
5 | 402 | 0.0124 | -5 | c.14+ others(20): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 30017743 | ATATTT | A | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02055.hp2 HG02258.hp2 others(8): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 others(6): Show |
11 | 326 | 0.0337 | -5 | c.*26 others(16): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1132 | chr19 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126497797 | AGGCTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(53): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(10): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0002others(18): Show | a0001c0001t0002g0038 a0001c0001t0002g0100 a0001c0003t0001g0001 others(40): Show |
56 | 378 | 0.1481 | -5 | c.143 others(22): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 14/19 | chr3 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35269042 | TCCCTC | T | 5_prime_UTR_variant | MODIFIER | HG02622.hp1 HG03669.hp1 NA18991.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0017 | a0001c0001t0010g0001 a0001c0001t0010g0008 a0001c0001t0010g0061 others(1): Show |
4 | 415 | 0.0096 | -5 | c.-41 others(12): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 1/10 | 37 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
USF3_chr3_113643385_113701642 | 113677982 | TCTCCC | T | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG02148.hp2 others(4): Show |
a0005 | a0005c0008 | a0005c0008t0010a0005c0008t0049a0005c0008t0050 | a0005c0008t0010g0045 a0005c0008t0010g0046 a0005c0008t0010g0048 others(4): Show |
7 | 339 | 0.0206 | -5 | c.-13 others(22): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113698359 | CTCTTT | C | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02895.hp1 HG02897.hp1 others(5): Show |
a0003 | a0003c0005 | a0003c0005t0018a0003c0005t0035a0003c0005t0084others(1): Show | a0003c0005t0018g0130 a0003c0005t0018g0131 a0003c0005t0018g0132 others(5): Show |
8 | 340 | 0.0235 | -5 | c.-21 others(16): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1718 | chr3 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215732544 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(5): Show |
a0004a0005a0006others(5): Show | a0004c0069a0005c0029a0006c0073others(5): Show | a0004c0069t0001a0005c0029t0007a0006c0073t0001others(5): Show | a0004c0069t0001g0057 a0005c0029t0007g0043 a0006c0073t0001g0054 others(5): Show |
8 | 34 | 0.2353 | -5 | c.117 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 60/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215747885 | TGTTTG | T | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp1 HG02004.hp1 others(15): Show |
a0002a0007a0015others(14): Show | a0002c0071a0002c0072a0007c0036others(15): Show | a0002c0071t0001a0002c0072t0001a0007c0036t0001others(15): Show | a0002c0071t0001g0058 a0002c0072t0001g0050 a0007c0036t0001g0027 others(15): Show |
18 | 72 | 0.2500 | -5 | c.113 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215788915 | CCAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02559.hp2 others(6): Show |
a0005a0011a0024others(6): Show | a0005c0029a0011c0059a0024c0032others(6): Show | a0005c0029t0007a0011c0059t0001a0024c0032t0005others(6): Show | a0005c0029t0007g0043 a0011c0059t0001g0069 a0024c0032t0005g0032 others(6): Show |
9 | 18 | 0.5000 | -5 | c.101 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 51/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215836475 | TATATA | T | intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 HG03471.hp2 others(1): Show |
a0041a0045a0053others(1): Show | a0041c0049a0045c0002a0053c0028others(1): Show | a0041c0049t0001a0045c0002t0002a0053c0028t0003others(1): Show | a0041c0049t0001g0063 a0045c0002t0002g0019 a0053c0028t0003g0041 others(1): Show |
4 | 71 | 0.0563 | -5 | c.937 others(24): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215917780 | CAAAAA | C | intron_variant | MODIFIER | HG02572.hp2 HG02698.hp2 HG02717.hp2 others(1): Show |
a0026a0032a0034others(1): Show | a0026c0018a0032c0070a0034c0045others(1): Show | a0026c0018t0003a0032c0070t0001a0034c0045t0006others(1): Show | a0026c0018t0003g0012 a0032c0070t0001g0052 a0034c0045t0006g0028 others(1): Show |
4 | 10 | 0.4000 | -5 | c.730 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215996560 | GTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02615.hp2 others(5): Show |
a0002a0021a0025others(5): Show | a0002c0072a0021c0030a0025c0026others(5): Show | a0002c0072t0001a0021c0030t0001a0025c0026t0001others(5): Show | a0002c0072t0001g0050 a0021c0030t0001g0048 a0025c0026t0001g0038 others(5): Show |
8 | 28 | 0.2857 | -5 | c.665 others(24): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 34/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216030426 | ACATAT | A | intron_variant | MODIFIER | HG03098.hp2 NA19240.hp1 NA19240.hp2 |
a0041a0064a0065 | a0041c0049a0064c0048a0065c0006 | a0041c0049t0001a0064c0048t0007a0065c0006t0014 | a0041c0049t0001g0063 a0064c0048t0007g0015 a0065c0006t0014g0007 |
3 | 72 | 0.0417 | -5 | c.632 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216115112 | TTTTTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(60): Show |
a0001a0002a0004others(58): Show | a0001c0001a0002c0071a0002c0072others(59): Show | a0001c0001t0002a0002c0071t0001a0002c0072t0001others(59): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(60): Show |
63 | 70 | 0.9000 | -5 | c.462 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216121224 | AATATT | A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp1 others(14): Show |
a0001a0002a0012others(13): Show | a0001c0001a0002c0071a0012c0021others(13): Show | a0001c0001t0002a0002c0071t0001a0012c0021t0005others(13): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0002c0071t0001g0058 others(14): Show |
17 | 72 | 0.2361 | -5 | c.462 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216131442 | CTTTGA | C | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 |
a0017a0026 | a0017c0008a0026c0018 | a0017c0008t0002a0026c0018t0003 | a0017c0008t0002g0021 a0026c0018t0003g0012 |
2 | 72 | 0.0278 | -5 | c.462 others(26): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216218142 | AAACTT | A | intron_variant | MODIFIER | HG01106.hp1 HG03540.hp2 |
a0009a0057 | a0009c0017a0057c0038 | a0009c0017t0002a0057c0038t0001 | a0009c0017t0002g0024 a0057c0038t0001g0044 |
2 | 72 | 0.0278 | -5 | c.299 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 14/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216359577 | TAACTC | T | intron_variant | MODIFIER | HG03225.hp1 NA18522.hp1 |
a0048a0060 | a0048c0015a0060c0014 | a0048c0015t0010a0060c0014t0003 | a0048c0015t0010g0008 a0060c0014t0003g0006 |
2 | 72 | 0.0278 | -5 | c.784 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 4/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216373769 | TGACTC | T | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(26): Show |
a0001a0005a0007others(25): Show | a0001c0001a0005c0029a0007c0036others(25): Show | a0001c0001t0002a0005c0029t0007a0007c0036t0001others(25): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 others(26): Show |
29 | 72 | 0.4028 | -5 | c.652 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216415508 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001a0005a0007others(18): Show | a0001c0001a0005c0029a0007c0036others(18): Show | a0001c0001t0002a0005c0029t0007a0007c0036t0001others(18): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 others(19): Show |
22 | 42 | 0.5238 | -5 | c.651 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75720973 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02145.hp2 others(14): Show |
a0001a0005 | a0001c0002a0005c0017 | a0001c0002t0001a0001c0002t0009a0005c0017t0001 | a0001c0002t0001g0037 a0001c0002t0001g0155 a0001c0002t0001g0156 others(14): Show |
17 | 137 | 0.1241 | -5 | c.-38 others(16): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 3603 | chr4 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75751185 | ATTATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(28): Show |
a0001 | a0001c0004a0001c0014 | a0001c0004t0001a0001c0004t0002a0001c0014t0002 | a0001c0004t0001g0049 a0001c0004t0002g0001 a0001c0004t0002g0007 others(27): Show |
31 | 286 | 0.1084 | -5 | c.67- others(20): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USO1_chr4_75719577_75819286 | 75756417 | TATAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(39): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0008a0001c0006t0001 | a0001c0003t0001g0002 a0001c0003t0001g0137 a0001c0003t0001g0154 others(38): Show |
42 | 286 | 0.1469 | -5 | c.219 others(22): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 3/23 | chr4 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75795914 | TTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(18): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(235): Show |
239 | 285 | 0.8386 | -5 | c.145 others(24): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USO1_chr4_75719577_75819286 | 75797474 | CTCTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(113): Show |
a0001a0003a0004 | a0001c0001a0001c0007a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(6): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(113): Show |
116 | 165 | 0.7030 | -5 | c.145 others(24): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84697704 | TATATG | T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00673.hp2 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0002c0004others(2): Show | a0001c0005t0001a0002c0001t0001a0002c0004t0001others(3): Show | a0001c0005t0001g0227 a0001c0005t0001g0243 a0001c0005t0001g0303 others(19): Show |
22 | 428 | 0.0514 | -5 | c.-23 others(16): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 2295 | chr16 | TogoVar |