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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UQCRFS1_chr19_29200320_29218151 | 29200844 | C | CTAAATAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01361.hp2 HG02300.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0002g0019 a0001c0001t0005g0008 others(1): Show |
6 | 194 | 0.0309 | 8 | c.*67 others(19): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4475 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29217193 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00609.hp2 others(73): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0002g0004 a0001c0001t0002g0009 a0001c0001t0002g0010 others(25): Show |
76 | 96 | 0.7917 | 8 | c.-40 others(19): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 4043 | chr19 | TogoVar | |||||||
UQCRH_chr1_46298698_46321776 | 46313642 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(4): Show |
7 | 321 | 0.0218 | 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 | T | TGATAGAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(79): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0006c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0013 others(23): Show |
82 | 146 | 0.5616 | 8 | c.175 others(23): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32361159 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01975.hp1 HG02165.hp1 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0008a0001c0033others(11): Show | a0001c0002t0003a0001c0008t0006a0001c0033t0001others(13): Show | a0001c0002t0003g0255 a0001c0008t0006g0017 a0001c0033t0001g0159 others(20): Show |
23 | 40 | 0.5750 | 8 | c.164 others(23): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 12/38 | chr21 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229662333 | C | CCTTGACC others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(152): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0006a0001c0012others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0013 others(101): Show |
155 | 354 | 0.4379 | 8 | c.*30 others(19): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 2134 | chr1 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43897203 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(25): Show |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0001a0002c0001t0001 | a0001c0004t0001g0013 a0001c0004t0001g0016 a0001c0004t0001g0024 others(18): Show |
28 | 398 | 0.0704 | 8 | c.14+ others(23): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29944140 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(2): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0204 others(17): Show |
21 | 58 | 0.3621 | 8 | c.117 others(25): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29996479 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0015a0003c0003t0001a0003c0003t0006others(2): Show | a0001c0001t0015g0007 a0003c0003t0001g0038 a0003c0003t0006g0006 others(2): Show |
5 | 217 | 0.0230 | 8 | c.368 others(25): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UROC1_chr3_126476166_126522773 | 126513135 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 NA18959.hp2 others(5): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0032 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0314 others(5): Show |
8 | 214 | 0.0374 | 8 | c.127 others(25): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126520847 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG03453.hp1 HG03453.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0002g0155 a0001c0001t0002g0166 a0001c0001t0002g0167 others(7): Show |
11 | 167 | 0.0659 | 8 | c.-31 others(19): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 3075 | chr3 | TogoVar | |||||||
USB1_chr16_57996407_58026618 | 57999239 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01168.hp1 others(43): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(19): Show |
46 | 115 | 0.4000 | 8 | c.-22 others(19): Show |
USB1 | ENSG00000103005.13 | transcript | ENST00000219281.8 | protein_coding | 2167 | chr16 | TogoVar | |||||||
USB1_chr16_57996407_58026618 | 58015080 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0035 a0001c0001t0004g0070 a0001c0001t0004g0072 |
4 | 91 | 0.0440 | 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 | 17223175 | A | ATAAAAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show |
311 | 420 | 0.7405 | 8 | c.*33 others(19): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 3347 | chr19 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113644198 | G | GTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03130.hp1 others(1): Show |
a0002a0010 | a0002c0003a0010c0013 | a0002c0003t0008a0010c0013t0001 | a0002c0003t0008g0063 a0010c0013t0001g0014 a0010c0013t0001g0110 |
4 | 193 | 0.0207 | 8 | c.*10 others(21): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 4186 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113667865 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02040.hp2 HG02071.hp1 others(6): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0014a0002c0003t0024others(2): Show | a0002c0003t0001g0089 a0002c0003t0001g0094 a0002c0003t0001g0097 others(6): Show |
9 | 239 | 0.0377 | 8 | c.159 others(25): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 5/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113679009 | G | GTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00438.hp1 others(24): Show |
a0002a0005a0010others(1): Show | a0002c0003a0005c0007a0010c0013others(1): Show | a0002c0003t0001a0002c0003t0014a0002c0003t0024others(6): Show | a0002c0003t0001g0016 a0002c0003t0001g0073 a0002c0003t0001g0081 others(22): Show |
27 | 251 | 0.1076 | 8 | c.-13 others(27): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113689034 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0014others(27): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(87): Show | a0001c0001t0002g0159 a0001c0001t0003g0007 a0001c0001t0003g0011 others(262): Show |
304 | 334 | 0.9102 | 8 | c.-13 others(27): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215627437 | C | CTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(1): Show |
a0001a0009a0047 | a0001c0001a0009c0017a0047c0044 | a0001c0001t0002a0009c0017t0002a0047c0044t0002 | a0001c0001t0002g0035 a0001c0001t0002g0036 a0009c0017t0002g0024 others(1): Show |
4 | 50 | 0.0800 | 8 | c.155 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 71/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215635531 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02896.hp1 others(5): Show |
a0017a0018a0036others(5): Show | a0017c0008a0018c0027a0036c0053others(5): Show | a0017c0008t0002a0018c0027t0002a0036c0053t0001others(5): Show | a0017c0008t0002g0021 a0018c0027t0002g0042 a0036c0053t0001g0061 others(5): Show |
8 | 33 | 0.2424 | 8 | c.150 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 69/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215693092 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 HG03486.hp1 others(3): Show |
a0028a0052a0054others(3): Show | a0028c0005a0052c0010a0054c0061others(3): Show | a0028c0005t0002a0052c0010t0012a0054c0061t0002others(3): Show | a0028c0005t0002g0022 a0052c0010t0012g0014 a0054c0061t0002g0065 others(3): Show |
6 | 28 | 0.2143 | 8 | c.120 others(31): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215693092 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02257.hp1 others(2): Show |
a0001a0019a0025others(1): Show | a0001c0001a0019c0058a0025c0026others(1): Show | a0001c0001t0002a0019c0058t0001a0025c0026t0001others(1): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0019c0058t0001g0068 others(2): Show |
5 | 27 | 0.1852 | 8 | c.120 others(31): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215728582 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp2 others(22): Show |
a0002a0004a0005others(22): Show | a0002c0072a0004c0069a0005c0029others(22): Show | a0002c0072t0001a0004c0069t0001a0005c0029t0007others(22): Show | a0002c0072t0001g0050 a0004c0069t0001g0057 a0005c0029t0007g0043 others(22): Show |
25 | 40 | 0.6250 | 8 | c.117 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 60/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215743386 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(3): Show |
a0001a0008a0024others(2): Show | a0001c0001a0008c0037a0024c0032others(2): Show | a0001c0001t0002a0008c0037t0001a0024c0032t0005others(2): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0008c0037t0001g0033 others(3): Show |
6 | 29 | 0.2069 | 8 | c.113 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215743408 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03130.hp2 NA20129.hp1 others(1): Show |
a0032a0043a0066others(1): Show | a0032c0070a0043c0039a0066c0051others(1): Show | a0032c0070t0001a0043c0039t0002a0066c0051t0001others(1): Show | a0032c0070t0001g0052 a0043c0039t0002g0030 a0066c0051t0001g0066 others(1): Show |
4 | 72 | 0.0556 | 8 | c.113 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 58/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215785932 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 NA18522.hp1 |
a0011a0029a0060 | a0011c0059a0029c0043a0060c0014 | a0011c0059t0001a0029c0043t0002a0060c0014t0003 | a0011c0059t0001g0069 a0029c0043t0002g0047 a0060c0014t0003g0006 |
3 | 26 | 0.1154 | 8 | c.103 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 52/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215926614 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02896.hp1 HG03471.hp1 others(2): Show |
a0020a0036a0052others(2): Show | a0020c0004a0036c0053a0052c0010others(2): Show | a0020c0004t0011a0036c0053t0001a0052c0010t0012others(2): Show | a0020c0004t0011g0020 a0036c0053t0001g0061 a0052c0010t0012g0014 others(2): Show |
5 | 8 | 0.6250 | 8 | c.730 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215973940 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02698.hp1 HG02735.hp1 others(3): Show |
a0002a0010a0031others(3): Show | a0002c0072a0010c0063a0031c0040others(3): Show | a0002c0072t0001a0010c0063t0001a0031c0040t0001others(3): Show | a0002c0072t0001g0050 a0010c0063t0001g0056 a0031c0040t0001g0034 others(3): Show |
6 | 12 | 0.5000 | 8 | c.680 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 35/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215993509 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02615.hp2 others(5): Show |
a0009a0021a0028others(5): Show | a0009c0017a0021c0030a0028c0005others(5): Show | a0009c0017t0002a0021c0030t0001a0028c0005t0002others(5): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0028c0005t0002g0022 others(5): Show |
8 | 21 | 0.3810 | 8 | c.665 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 34/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216046006 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02735.hp2 |
a0031a0035 | a0031c0040a0035c0033 | a0031c0040t0001a0035c0033t0001 | a0031c0040t0001g0034 a0035c0033t0001g0037 |
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 | 216050560 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02055.hp2 HG02735.hp2 others(1): Show |
a0004a0018a0035others(1): Show | a0004c0069a0018c0027a0035c0033others(1): Show | a0004c0069t0001a0018c0027t0002a0035c0033t0001others(1): Show | a0004c0069t0001g0057 a0018c0027t0002g0042 a0035c0033t0001g0037 others(1): Show |
4 | 41 | 0.0976 | 8 | c.605 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216085719 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02451.hp1 HG02615.hp2 others(2): Show |
a0009a0021a0028others(2): Show | a0009c0017a0021c0030a0028c0005others(2): Show | a0009c0017t0002a0021c0030t0001a0028c0005t0002others(2): Show | a0009c0017t0002g0024 a0021c0030t0001g0048 a0028c0005t0002g0022 others(2): Show |
5 | 49 | 0.1020 | 8 | c.498 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 24/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216159537 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02698.hp1 HG02717.hp1 NA18522.hp2 |
a0031a0033a0061 | a0031c0040a0033c0050a0061c0012 | a0031c0040t0001a0033c0050t0001a0061c0012t0002 | a0031c0040t0001g0034 a0033c0050t0001g0060 a0061c0012t0002g0005 |
3 | 25 | 0.1200 | 8 | c.462 others(29): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 21/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216331106 | A | AGCAAGTT others(1): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03486.hp2 NA20300.hp1 |
a0042a0055a0068 | a0042c0056a0055c0047a0068c0046 | a0042c0056t0005a0055c0047t0003a0068c0046t0004 | a0042c0056t0005g0070 a0055c0047t0003g0017 a0068c0046t0004g0016 |
3 | 72 | 0.0417 | 8 | c.785 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 4/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216355307 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02896.hp2 HG03453.hp2 others(1): Show |
a0006a0037a0051others(1): Show | a0006c0073a0037c0011a0051c0035others(1): Show | a0006c0073t0001a0037c0011t0001a0051c0035t0001others(1): Show | a0006c0073t0001g0054 a0037c0011t0001g0046 a0051c0035t0001g0025 others(1): Show |
4 | 15 | 0.2667 | 8 | c.784 others(25): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 4/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 216398555 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01081.hp2 others(42): Show |
a0001a0008a0009others(41): Show | a0001c0001a0008c0037a0009c0017others(41): Show | a0001c0001t0002a0008c0037t0001a0009c0017t0002others(41): Show | a0001c0001t0002g0035 a0001c0001t0002g0036 a0008c0037t0001g0033 others(42): Show |
45 | 72 | 0.6250 | 8 | c.651 others(27): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 3/71 | chr1 | TogoVar | |||||||
USHBP1_chr19_17244171_17269745 | 17246422 | G | GAGACAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp2 HG02965.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 3 | 350 | 0.0086 | 8 | c.*38 others(19): Show |
USHBP1 | ENSG00000130307.12 | transcript | ENST00000252597.8 | protein_coding | 2748 | chr19 | TogoVar | |||||||
USHBP1_chr19_17244171_17269745 | 17246432 | G | GACAGACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0036others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0009t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0015 others(14): Show |
38 | 163 | 0.2331 | 8 | c.*37 others(19): Show |
USHBP1 | ENSG00000130307.12 | transcript | ENST00000252597.8 | protein_coding | 2738 | chr19 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75720796 | A | AAAATAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(3): Show | a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0060 others(33): Show |
36 | 96 | 0.3750 | 8 | c.-40 others(19): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 3780 | chr4 | TogoVar | |||||||
USO1_chr4_75719577_75819286 | 75732876 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00642.hp1 others(37): Show |
a0001a0004 | a0001c0001a0004c0019 | a0001c0001t0001a0001c0001t0003a0004c0019t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 others(37): Show |
40 | 66 | 0.6061 | 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 | 75759246 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0071 a0001c0001t0001g0093 others(5): Show |
8 | 36 | 0.2222 | 8 | c.295 others(25): Show |
USO1 | ENSG00000138768.15 | transcript | ENST00000514213.7 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84696956 | C | CCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02027.hp1 NA18951.hp1 |
a0001a0002 | a0001c0002a0001c0005a0002c0001 | a0001c0002t0001a0001c0005t0001a0002c0001t0001 | a0001c0002t0001g0251 a0001c0005t0001g0300 a0002c0001t0001g0158 |
3 | 128 | 0.0234 | 8 | c.-31 others(19): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 3043 | chr16 | TogoVar | |||||||
USP10_chr16_84695000_84784922 | 84702993 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(105): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0005a0001c0006others(10): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0006others(16): Show | a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0221 others(104): Show |
108 | 294 | 0.3673 | 8 | c.21+ others(23): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84720576 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(17): Show |
a0002a0003a0006 | a0002c0001a0002c0004a0003c0003others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0004t0001others(5): Show | a0002c0001t0001g0162 a0002c0001t0002g0207 a0002c0004t0001g0151 others(17): Show |
20 | 67 | 0.2985 | 8 | c.22- others(25): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84735196 | G | GATGTGTG others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02615.hp1 HG02717.hp1 others(3): Show |
a0001a0003 | a0001c0002a0001c0007a0003c0008 | a0001c0002t0001a0001c0007t0001a0003c0008t0001 | a0001c0002t0001g0221 a0001c0002t0001g0287 a0001c0007t0001g0040 others(3): Show |
6 | 40 | 0.1500 | 8 | c.90+ others(23): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 2/13 | chr16 | TogoVar | |||||||
USP10_chr16_84695000_84784922 | 84757400 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03490.hp1 HG03490.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0004 | a0002c0001t0001g0131 a0002c0001t0001g0132 a0002c0001t0001g0136 others(2): Show |
5 | 321 | 0.0156 | 8 | c.119 others(27): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84764931 | G | GAGAGAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01123.hp2 HG02109.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0007others(3): Show | a0001c0002t0001a0001c0005t0008a0001c0005t0012others(6): Show | a0001c0002t0001g0298 a0001c0005t0008g0297 a0001c0005t0012g0263 others(12): Show |
15 | 100 | 0.1500 | 8 | c.183 others(25): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP10_chr16_84695000_84784922 | 84778091 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0002a0003 | a0002c0001a0002c0004a0003c0003 | a0002c0001t0003a0002c0004t0007a0003c0003t0003 | a0002c0001t0003g0331 a0002c0004t0007g0043 a0002c0004t0007g0164 others(3): Show |
6 | 313 | 0.0192 | 8 | c.221 others(25): Show |
USP10 | ENSG00000103194.16 | transcript | ENST00000219473.12 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27086282 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0044 a0001c0001t0003g0045 |
2 | 21 | 0.0952 | 8 | c.734 others(25): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 6/8 | chr13 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27087099 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0135 |
2 | 132 | 0.0152 | 8 | c.734 others(25): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 6/8 | chr13 | TogoVar |