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 | 102646923 | GGAAAGAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0035 a0001c0001t0004g0059 |
2 | 52 | 0.0385 | -8 | c.-41 others(19): Show |
UPK3BL1 | ENSG00000267368.1 | transcript | ENST00000340457.8 | protein_coding | 4133 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102544127 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00735.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(2): Show |
29 | 31 | 0.9355 | -8 | c.-49 others(17): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 432 | chr7 | TogoVar | |||||||
UPK3BL2_chr7_102532919_102548696 | 102547901 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG01069.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(3): Show |
14 | 56 | 0.2500 | -8 | c.-42 others(19): Show |
UPK3BL2 | ENSG00000284981.2 | transcript | ENST00000644544.2 | protein_coding | 4206 | chr7 | TogoVar | |||||||
UPP2_chr2_158096876_158141154 | 158108887 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG01516.hp2 HG02040.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0003 | a0001c0001t0001g0088 a0001c0001t0002g0116 a0002c0002t0003g0052 |
3 | 137 | 0.0219 | -8 | c.180 others(25): Show |
UPP2 | ENSG00000007001.13 | transcript | ENST00000005756.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UPRT_chrX_75269085_75309885 | 75274775 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02723.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0007 a0001c0001t0001g0061 a0001c0001t0001g0062 others(4): Show |
12 | 39 | 0.3077 | -8 | c.386 others(23): Show |
UPRT | ENSG00000094841.14 | transcript | ENST00000373383.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UQCC1_chr20_35297578_35416973 | 35321252 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG00639.hp1 others(50): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0138 a0001c0001t0001g0142 a0001c0001t0001g0144 others(50): Show |
53 | 102 | 0.5196 | -8 | c.574 others(25): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 7/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35393503 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02280.hp1 NA20805.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0059 |
3 | 89 | 0.0337 | -8 | c.129 others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35402580 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0122 a0001c0001t0001g0147 a0001c0001t0001g0148 others(69): Show |
72 | 143 | 0.5035 | -8 | c.25- others(23): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33696677 | CTCTCAGG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02976.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0112 |
3 | 400 | 0.0075 | -8 | c.*96 others(17): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 86 | chr6 | TogoVar | |||||||
UQCC2_chr6_33691764_33716700 | 33714877 | CTCATTCA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01123.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0018 a0001c0001t0004g0037 a0001c0001t0004g0107 others(1): Show |
14 | 348 | 0.0402 | -8 | c.-31 others(19): Show |
UQCC2 | ENSG00000137288.10 | transcript | ENST00000607484.6 | protein_coding | 3178 | chr6 | TogoVar | |||||||
UQCR10_chr22_29762369_29775413 | 29763292 | CAATAAAT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(60): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0022 others(3): Show |
63 | 227 | 0.2775 | -8 | c.-41 others(19): Show |
UQCR10 | ENSG00000184076.13 | transcript | ENST00000330029.6 | protein_coding | 4076 | chr22 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21961626 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00597.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(15): Show |
40 | 57 | 0.7018 | -8 | c.333 others(23): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRFS1_chr19_29200320_29218151 | 29200844 | CTAAATAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0031 a0001c0001t0002g0004 a0001c0001t0002g0010 others(5): Show |
21 | 209 | 0.1005 | -8 | c.*66 others(19): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4475 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29205770 | CATGAAGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18962.hp2 NA18988.hp1 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0017 | a0001c0001t0009g0024 a0001c0001t0009g0060 a0001c0001t0017g0056 |
5 | 434 | 0.0115 | -8 | c.*17 others(19): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 2/2 | 1770 | chr19 | TogoVar | ||||||
UQCRH_chr1_46298698_46321776 | 46313642 | CAGATAGA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01175.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show |
14 | 328 | 0.0427 | -8 | c.244 others(25): Show |
UQCRH | ENSG00000173660.12 | transcript | ENST00000311672.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URAD_chr13_27972717_27993693 | 27987892 | TGATAGAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01175.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0060 others(4): Show |
19 | 83 | 0.2289 | -8 | c.175 others(23): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32347816 | AAGGCAGT others(1): Show |
A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 HG01884.hp1 HG02698.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0201 a0001c0002t0003g0251 a0001c0002t0003g0257 others(5): Show |
8 | 336 | 0.0238 | -8 | c.301 others(22): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 21/38 | chr21 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229622018 | CATCTATC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0006a0001c0012others(12): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0003g0004 a0001c0001t0003g0017 a0001c0001t0003g0043 others(80): Show |
110 | 141 | 0.7801 | -8 | c.-43 others(19): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 4228 | chr1 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43898746 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00639.hp2 others(46): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0003t0003a0001c0003t0005others(4): Show | a0001c0002t0002g0174 a0001c0003t0003g0006 a0001c0003t0003g0008 others(26): Show |
49 | 318 | 0.1541 | -8 | c.14+ others(23): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29944140 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01884.hp1 HG02155.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(8): Show |
11 | 48 | 0.2292 | -8 | c.117 others(25): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128395694 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01099.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0008 a0001c0001t0002g0011 others(16): Show |
28 | 89 | 0.3146 | -8 | c.*59 others(19): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 3679 | chr9 | TogoVar | |||||||
USB1_chr16_57996407_58026618 | 58015080 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00741.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0080 others(20): Show |
60 | 147 | 0.4082 | -8 | c.503 others(23): Show |
USB1 | ENSG00000103005.13 | transcript | ENST00000219281.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USE1_chr19_17210357_17224829 | 17215215 | GGCATTAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0027 others(2): Show |
6 | 420 | 0.0143 | -8 | c.-19 others(17): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 141 | chr19 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161034450 | CATAAATA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(12): Show |
48 | 128 | 0.3750 | -8 | c.*54 others(19): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 4800 | chr1 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17546411 | GTGAATGA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01070.hp2 HG01167.hp1 others(38): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(18): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0164 others(38): Show |
41 | 165 | 0.2485 | -8 | c.-21 others(19): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 1996 | chr11 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215627385 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp2 others(6): Show |
a0002a0004a0006others(6): Show | a0002c0071a0004c0069a0006c0073others(6): Show | a0002c0071t0001a0004c0069t0001a0006c0073t0001others(6): Show | a0002c0071t0001g0058 a0004c0069t0001g0057 a0006c0073t0001g0054 others(6): Show |
9 | 54 | 0.1667 | -8 | c.155 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 71/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215630480 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03139.hp2 NA18522.hp2 |
a0043a0045a0061 | a0043c0039a0045c0002a0061c0012 | a0043c0039t0002a0045c0002t0002a0061c0012t0002 | a0043c0039t0002g0030 a0045c0002t0002g0019 a0061c0012t0002g0005 |
3 | 36 | 0.0833 | -8 | c.152 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 70/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215754660 | ATAGCTGA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02559.hp2 others(9): Show |
a0001a0024a0025others(8): Show | a0001c0001a0024c0032a0025c0026others(8): Show | a0001c0001t0002a0024c0032t0005a0025c0026t0001others(8): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0024c0032t0005g0032 others(9): Show |
12 | 72 | 0.1667 | -8 | c.113 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215756919 | TAAACAAA others(1): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02559.hp1 HG03471.hp1 |
a0010a0023a0052 | a0010c0063a0023c0020a0052c0010 | a0010c0063t0001a0023c0020t0006a0052c0010t0012 | a0010c0063t0001g0056 a0023c0020t0006g0004 a0052c0010t0012g0014 |
3 | 52 | 0.0577 | -8 | c.113 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215756939 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03453.hp2 |
a0025a0051 | a0025c0026a0051c0035 | a0025c0026t0001a0051c0035t0001 | a0025c0026t0001g0038 a0051c0035t0001g0025 |
2 | 21 | 0.0952 | -8 | c.113 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215771579 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG06807.hp1 others(4): Show |
a0001a0058a0062others(3): Show | a0001c0001a0058c0060a0062c0042others(3): Show | a0001c0001t0002a0058c0060t0001a0062c0042t0001others(3): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0058c0060t0001g0067 others(4): Show |
7 | 10 | 0.7000 | -8 | c.109 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215773474 | ATGTCTCT others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp1 NA19240.hp1 |
a0025a0064 | a0025c0026a0064c0048 | a0025c0026t0001a0064c0048t0007 | a0025c0026t0001g0038 a0064c0048t0007g0015 |
2 | 72 | 0.0278 | -8 | c.109 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215773504 | CTCTCTCT others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02896.hp2 HG03540.hp2 |
a0026a0037a0057 | a0026c0018a0037c0011a0057c0038 | a0026c0018t0003a0037c0011t0001a0057c0038t0001 | a0026c0018t0003g0012 a0037c0011t0001g0046 a0057c0038t0001g0044 |
3 | 72 | 0.0417 | -8 | c.109 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 55/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215856832 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG02004.hp1 HG02647.hp2 HG02922.hp1 others(8): Show |
a0015a0030a0038others(8): Show | a0015c0064a0030c0003a0038c0022others(8): Show | a0015c0064t0001a0030c0003t0001a0038c0022t0001others(8): Show | a0015c0064t0001g0051 a0030c0003t0001g0018 a0038c0022t0001g0002 others(8): Show |
11 | 20 | 0.5500 | -8 | c.884 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 44/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216040048 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(11): Show |
a0004a0005a0006others(11): Show | a0004c0069a0005c0029a0006c0073others(11): Show | a0004c0069t0001a0005c0029t0007a0006c0073t0001others(11): Show | a0004c0069t0001g0057 a0005c0029t0007g0043 a0006c0073t0001g0054 others(11): Show |
14 | 17 | 0.8235 | -8 | c.632 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216046006 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02717.hp2 |
a0012a0034 | a0012c0021a0034c0045 | a0012c0021t0005a0034c0045t0006 | a0012c0021t0005g0003 a0034c0045t0006g0028 |
2 | 6 | 0.3333 | -8 | c.632 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 32/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216106317 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02922.hp2 others(3): Show |
a0009a0028a0039others(3): Show | a0009c0017a0028c0005a0039c0019others(3): Show | a0009c0017t0002a0028c0005t0002a0039c0019t0009others(3): Show | a0009c0017t0002g0024 a0028c0005t0002g0022 a0039c0019t0009g0011 others(3): Show |
6 | 20 | 0.3000 | -8 | c.462 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216106325 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp1 HG02647.hp2 others(6): Show |
a0020a0025a0030others(6): Show | a0020c0004a0025c0026a0030c0003others(6): Show | a0020c0004t0011a0025c0026t0001a0030c0003t0001others(6): Show | a0020c0004t0011g0020 a0025c0026t0001g0038 a0030c0003t0001g0018 others(6): Show |
9 | 72 | 0.1250 | -8 | c.462 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216135134 | ACTCTCTC others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03139.hp2 |
a0030a0045 | a0030c0003a0045c0002 | a0030c0003t0001a0045c0002t0002 | a0030c0003t0001g0018 a0045c0002t0002g0019 |
2 | 36 | 0.0556 | -8 | c.462 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216245470 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03098.hp1 |
a0029a0040 | a0029c0043a0040c0009 | a0029c0043t0002a0040c0009t0008 | a0029c0043t0002g0047 a0040c0009t0008g0001 |
2 | 19 | 0.1053 | -8 | c.280 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 13/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216323276 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02257.hp1 others(7): Show |
a0011a0017a0019others(7): Show | a0011c0059a0017c0008a0019c0058others(7): Show | a0011c0059t0001a0017c0008t0002a0019c0058t0001others(7): Show | a0011c0059t0001g0069 a0017c0008t0002g0021 a0019c0058t0001g0068 others(7): Show |
10 | 21 | 0.4762 | -8 | c.155 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 8/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216355307 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01192.hp1 HG02451.hp1 others(4): Show |
a0008a0013a0021others(4): Show | a0008c0037a0013c0065a0021c0030others(4): Show | a0008c0037t0001a0013c0065t0004a0021c0030t0001others(4): Show | a0008c0037t0001g0033 a0013c0065t0004g0074 a0021c0030t0001g0048 others(4): Show |
7 | 18 | 0.3889 | -8 | c.784 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 4/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216369920 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp1 HG01071.hp1 others(23): Show |
a0001a0005a0007others(22): Show | a0001c0001a0005c0029a0007c0036others(22): Show | a0001c0001t0002a0005c0029t0007a0007c0036t0001others(22): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0005c0029t0007g0043 others(23): Show |
26 | 50 | 0.5200 | -8 | c.652 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216377807 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG03453.hp1 |
a0010a0050 | a0010c0063a0050c0013 | a0010c0063t0001a0050c0013t0001 | a0010c0063t0001g0056 a0050c0013t0001g0023 |
2 | 45 | 0.0444 | -8 | c.652 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USHBP1_chr19_17244171_17269745 | 17246428 | GACAGACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02970.hp2 HG03225.hp1 NA19240.hp2 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0002a0002c0002t0003 | a0001c0004t0002g0007 a0002c0002t0003g0081 |
3 | 403 | 0.0074 | -8 | c.*37 others(19): Show |
USHBP1 | ENSG00000130307.12 | transcript | ENST00000252597.8 | protein_coding | 2742 | chr19 | TogoVar | |||||||
USHBP1_chr19_17244171_17269745 | 17246432 | GACACACA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00639.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0004t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0010g0046 a0001c0004t0002g0007 others(14): Show |
24 | 149 | 0.1611 | -8 | c.*37 others(19): Show |
USHBP1 | ENSG00000130307.12 | transcript | ENST00000252597.8 | protein_coding | 2738 | chr19 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75720796 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0217 a0001c0002t0001g0164 others(43): Show |
47 | 107 | 0.4393 | -8 | c.-40 others(19): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 3780 | chr4 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75733935 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01109.hp1 others(67): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0005a0005c0017others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0002t0001g0037 a0001c0002t0001g0155 a0001c0002t0001g0156 others(67): Show |
70 | 120 | 0.5833 | -8 | c.66+ others(23): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USO1_chr4_75719577_75819286 | 75753371 | AAAAATAA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp2 HG01109.hp1 others(88): Show |
a0001a0002a0005others(2): Show | a0001c0002a0002c0005a0005c0017others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(5): Show | a0001c0002t0001g0037 a0001c0002t0001g0155 a0001c0002t0001g0156 others(88): Show |
91 | 286 | 0.3182 | -8 | c.218 others(23): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84696956 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01192.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0006a0001c0007a0002c0001others(3): Show | a0001c0006t0001a0001c0007t0007a0002c0001t0001others(5): Show | a0001c0006t0001g0115 a0001c0006t0001g0338 a0001c0006t0001g0387 others(13): Show |
16 | 141 | 0.1135 | -8 | c.-31 others(19): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 3043 | chr16 | TogoVar |