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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UQCC1_chr20_35297578_35416973 | 35310693 | A | ATTT | intron_variant | MODIFIER | HG02602.hp1 HG02970.hp2 NA18941.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(4): Show |
7 | 102 | 0.0686 | 3 | c.652 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 8/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35363028 | T | TAAA | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG01261.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0240 a0001c0001t0002g0241 others(3): Show |
6 | 238 | 0.0252 | 3 | c.464 others(20): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 6/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35384648 | T | TAAA | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG02258.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0032 a0002c0002t0003g0033 a0002c0002t0003g0034 others(11): Show |
14 | 162 | 0.0864 | 3 | c.130 others(18): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 2/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35395980 | C | CTTT | intron_variant | MODIFIER | HG00597.hp2 HG02135.hp2 HG02258.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0029 a0002c0002t0001g0067 a0002c0002t0001g0068 others(9): Show |
12 | 140 | 0.0857 | 3 | c.25- others(18): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35412617 | C | CAAA | upstream_gene_variant | MODIFIER | HG02602.hp1 HG02698.hp2 HG02818.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0006 | a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0234 others(4): Show |
7 | 71 | 0.0986 | 3 | c.-65 others(12): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 645 | chr20 | TogoVar | |||||||
UQCC1_chr20_35297578_35416973 | 35415259 | C | CTTT | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02027.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0148 a0001c0001t0002g0115 a0001c0001t0002g0119 others(3): Show |
6 | 11 | 0.5455 | 3 | c.-32 others(14): Show |
UQCC1 | ENSG00000101019.22 | transcript | ENST00000374385.10 | protein_coding | 3287 | chr20 | TogoVar | |||||||
UQCC3_chr11_62666673_62678686 | 62674401 | C | CAAA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01433.hp1 HG01928.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0005g0001 others(2): Show |
34 | 80 | 0.4250 | 3 | c.*22 others(14): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 716 | chr11 | TogoVar | |||||||
UQCC3_chr11_62666673_62678686 | 62675462 | G | GATC | downstream_gene_variant | MODIFIER | HG02572.hp1 HG03041.hp1 NA19043.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0022 | a0002c0002t0008g0002 a0002c0002t0022g0001 |
4 | 326 | 0.0123 | 3 | c.*33 others(14): Show |
UQCC3 | ENSG00000204922.5 | transcript | ENST00000377953.4 | protein_coding | 1777 | chr11 | TogoVar | |||||||
UQCC4_chr16_1414752_1425747 | 1421168 | A | ATTT | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01081.hp1 others(41): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0002c0002t0001g0002 others(2): Show |
44 | 59 | 0.7458 | 3 | c.-44 others(12): Show |
UQCC4 | ENSG00000174109.5 | transcript | ENST00000442039.3 | protein_coding | 422 | chr16 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103950188 | A | ACGT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(224): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(35): Show |
227 | 460 | 0.4935 | 3 | c.*13 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 5 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103958906 | C | CCTG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(429): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0022 others(62): Show |
432 | 460 | 0.9391 | 3 | c.-18 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 1692 | chr12 | TogoVar | |||||||
UQCC6_chr12_103945194_103962215 | 103961537 | T | TTTG | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01192.hp2 HG01358.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0002g0008 a0001c0001t0002g0015 a0001c0001t0002g0024 others(7): Show |
29 | 132 | 0.2197 | 3 | c.-44 others(14): Show |
UQCC6 | ENSG00000204954.10 | transcript | ENST00000378090.9 | protein_coding | 4323 | chr12 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21949683 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG02647.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0016 others(12): Show |
17 | 29 | 0.5862 | 3 | c.-37 others(14): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 3677 | chr16 | TogoVar | |||||||
UQCRC2_chr16_21948361_21988660 | 21955054 | C | CAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0044 others(4): Show |
13 | 146 | 0.0890 | 3 | c.33+ others(18): Show |
UQCRC2 | ENSG00000140740.11 | transcript | ENST00000268379.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
UQCRFS1_chr19_29200320_29218151 | 29203546 | T | TTTG | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02280.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 4 | 434 | 0.0092 | 3 | c.*40 others(14): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 1773 | chr19 | TogoVar | |||||||
UQCRFS1_chr19_29200320_29218151 | 29208968 | G | GTAT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp2 others(83): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0003t0002a0001c0004t0002others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0014 others(16): Show |
86 | 434 | 0.1982 | 3 | c.215 others(18): Show |
UQCRFS1 | ENSG00000169021.6 | transcript | ENST00000304863.6 | protein_coding | 1/1 | chr19 | TogoVar | |||||||
UQCRHL_chr1_15802374_15812649 | 15803083 | G | GCCT | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01074.hp1 others(25): Show |
a0002a0003 | a0002c0002a0002c0004a0003c0003 | a0002c0002t0001a0002c0004t0001a0003c0003t0001 | a0002c0002t0001g0000 a0002c0004t0001g0000 a0003c0003t0001g0000 |
28 | 341 | 0.0821 | 3 | c.*42 others(14): Show |
UQCRHL | ENSG00000233954.7 | transcript | ENST00000696689.1 | protein_coding | 4290 | chr1 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132869132 | G | GTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01069.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0002g0002 others(6): Show |
20 | 194 | 0.1031 | 3 | c.*15 others(14): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 286 | chr5 | TogoVar | |||||||
UQCRQ_chr5_132861642_132873847 | 132869134 | T | TTTG | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 7 | 450 | 0.0156 | 3 | c.*15 others(14): Show |
UQCRQ | ENSG00000164405.11 | transcript | ENST00000378670.8 | protein_coding | 288 | chr5 | TogoVar | |||||||
URAD_chr13_27972717_27993693 | 27988963 | C | CTTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0018 a0001c0001t0001g0023 others(2): Show |
9 | 40 | 0.2250 | 3 | c.-32 others(12): Show |
URAD | ENSG00000183463.7 | transcript | ENST00000332715.6 | protein_coding | 271 | chr13 | TogoVar | |||||||
URB1_chr21_32306018_32398012 | 32332569 | C | CAAA | intron_variant | MODIFIER | HG00558.hp2 HG01243.hp1 HG01891.hp1 others(10): Show |
a0001a0002a0018others(1): Show | a0001c0002a0001c0010a0001c0014others(5): Show | a0001c0002t0003a0001c0002t0021a0001c0010t0036others(6): Show | a0001c0002t0003g0221 a0001c0002t0003g0224 a0001c0002t0021g0184 others(10): Show |
13 | 82 | 0.1585 | 3 | c.496 others(20): Show |
URB1 | ENSG00000142207.7 | transcript | ENST00000382751.4 | protein_coding | 30/38 | chr21 | TogoVar | |||||||
URB2_chr1_229621247_229665200 | 229641009 | C | CTTT | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 HG02647.hp2 others(8): Show |
a0003 | a0003c0002a0003c0023 | a0003c0002t0002a0003c0002t0005a0003c0002t0011others(1): Show | a0003c0002t0002g0109 a0003c0002t0002g0126 a0003c0002t0002g0127 others(8): Show |
11 | 223 | 0.0493 | 3 | c.363 others(22): Show |
URB2 | ENSG00000135763.10 | transcript | ENST00000258243.7 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
URGCP_chr7_43870913_43911596 | 43883358 | A | ATTT | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0016 a0001c0004t0001g0045 a0001c0004t0001g0046 others(2): Show |
7 | 375 | 0.0187 | 3 | c.113 others(20): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43883362 | A | ATAT | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp1 HG02818.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0014 a0002c0001t0001g0015 a0002c0001t0001g0022 others(3): Show |
8 | 208 | 0.0385 | 3 | c.113 others(20): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43883363 | T | TATA | intron_variant | MODIFIER | NA18941.hp2 NA19005.hp2 NA19062.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001 | a0001c0002t0002g0146 a0002c0001t0001g0236 a0002c0001t0001g0254 |
3 | 397 | 0.0076 | 3 | c.113 others(20): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
URGCP_chr7_43870913_43911596 | 43898842 | T | TAAA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00738.hp2 others(25): Show |
a0002a0006 | a0002c0001a0006c0011 | a0002c0001t0001a0006c0011t0001 | a0002c0001t0001g0005 a0002c0001t0001g0009 a0002c0001t0001g0022 others(11): Show |
28 | 381 | 0.0735 | 3 | c.14+ others(18): Show |
URGCP | ENSG00000106608.17 | transcript | ENST00000453200.6 | protein_coding | 1/5 | chr7 | TogoVar | |||||||
URI1_chr19_29937239_30021612 | 29971463 | C | CCTT | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0015a0003c0003t0001a0003c0003t0006others(1): Show | a0001c0001t0015g0007 a0003c0003t0001g0001 a0003c0003t0001g0038 others(8): Show |
13 | 326 | 0.0399 | 3 | c.152 others(18): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URI1_chr19_29937239_30021612 | 29980612 | T | TAAA | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01255.hp1 others(52): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0059 others(52): Show |
55 | 78 | 0.7051 | 3 | c.153 others(20): Show |
URI1 | ENSG00000105176.18 | transcript | ENST00000392271.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128378542 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG02040.hp2 HG02071.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007 | a0001c0001t0003g0005 a0001c0001t0003g0088 a0001c0001t0003g0142 others(4): Show |
16 | 215 | 0.0744 | 3 | c.106 others(18): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
URM1_chr9_128366374_128397016 | 128395694 | C | CAAA | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01358.hp2 HG02683.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0025 | a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0112 others(3): Show |
8 | 69 | 0.1159 | 3 | c.*59 others(14): Show |
URM1 | ENSG00000167118.11 | transcript | ENST00000372853.9 | protein_coding | 3679 | chr9 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126477040 | G | GCCC | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp2 others(23): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0122 a0001c0002t0001g0006 a0001c0002t0001g0011 others(23): Show |
26 | 198 | 0.1313 | 3 | c.*53 others(14): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 4125 | chr3 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126485594 | T | TTTA | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01123.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0001 | a0001c0001t0002g0154 a0001c0001t0002g0243 a0001c0001t0008g0129 others(6): Show |
9 | 376 | 0.0239 | 3 | c.179 others(22): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 18/19 | chr3 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126520847 | C | CAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp1 HG01255.hp1 others(19): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(9): Show | a0001c0001t0002g0038 a0001c0001t0002g0054 a0001c0001t0002g0086 others(18): Show |
22 | 178 | 0.1236 | 3 | c.-31 others(14): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 3075 | chr3 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125817224 | A | ATTT | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp2 HG01109.hp2 others(37): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0046 a0001c0001t0001g0186 a0001c0001t0001g0187 others(34): Show |
40 | 122 | 0.3279 | 3 | c.-26 others(18): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125818492 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0013 others(149): Show |
252 | 397 | 0.6348 | 3 | c.-26 others(20): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125818983 | G | GTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(137): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0006a0006c0006t0002 | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0008 others(81): Show |
140 | 406 | 0.3448 | 3 | c.-26 others(20): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125818987 | T | TTTG | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0001g0130 a0001c0001t0001g0135 others(4): Show |
9 | 406 | 0.0222 | 3 | c.-26 others(20): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
UROS_chr10_125783586_125828258 | 125823399 | G | GACT | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0121 a0001c0001t0003g0122 others(1): Show |
5 | 406 | 0.0123 | 3 | c.-39 others(12): Show |
UROS | ENSG00000188690.16 | transcript | ENST00000368797.10 | protein_coding | 142 | chr10 | TogoVar | |||||||
USE1_chr19_17210357_17224829 | 17223632 | G | GAGA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(107): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0001a0001c0006t0001a0001c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(17): Show |
110 | 420 | 0.2619 | 3 | c.*38 others(14): Show |
USE1 | ENSG00000053501.14 | transcript | ENST00000263897.10 | protein_coding | 3804 | chr19 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35267372 | G | GGGA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(233): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show |
236 | 424 | 0.5566 | 3 | c.-17 others(14): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 1589 | chr19 | TogoVar | |||||||
USF2_chr19_35263962_35284821 | 35268513 | G | GCGC | upstream_gene_variant | MODIFIER | HG00544.hp1 HG02083.hp1 HG02129.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0015 a0001c0001t0002g0116 a0001c0001t0002g0117 others(1): Show |
8 | 419 | 0.0191 | 3 | c.-58 others(12): Show |
USF2 | ENSG00000105698.16 | transcript | ENST00000222305.8 | protein_coding | 448 | chr19 | TogoVar | |||||||
USF3_chr3_113643385_113701642 | 113657263 | T | TTGC | disruptive_inframe_insertion | MODERATE | HG00140.hp2 HG01256.hp2 HG01261.hp2 others(4): Show |
a0006 | a0006c0009a0006c0032 | a0006c0009t0028a0006c0009t0033a0006c0009t0048others(2): Show | a0006c0009t0028g0219 a0006c0009t0028g0226 a0006c0009t0033g0023 others(3): Show |
7 | 37 | 0.1892 | 3 | c.441 others(12): Show |
p.Gln others(7): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 7/7 | 4825/13704 | 4418/6738 | 1473/2245 | chr3 | TogoVar | |||
USF3_chr3_113643385_113701642 | 113690192 | A | AAAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(116): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0016others(11): Show | a0001c0001t0003a0001c0001t0011a0001c0002t0056others(33): Show | a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0013 others(106): Show |
119 | 340 | 0.3500 | 3 | c.-13 others(22): Show |
USF3 | ENSG00000176542.10 | transcript | ENST00000316407.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
USH1C_chr11_17488900_17549416 | 17533363 | A | ACCC | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG01069.hp1 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(7): Show | a0001c0001t0001g0226 a0001c0001t0001g0294 a0001c0001t0001g0304 others(14): Show |
19 | 208 | 0.0913 | 3 | c.37- others(14): Show |
USH1C | ENSG00000006611.17 | transcript | ENST00000005226.12 | protein_coding | 1/26 | chr11 | TogoVar | |||||||
USH1G_chr17_74911083_74928255 | 74914601 | C | CTTT | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02055.hp1 HG02145.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0022 a0001c0001t0003g0003 others(2): Show |
9 | 166 | 0.0542 | 3 | c.*34 others(14): Show |
USH1G | ENSG00000182040.9 | transcript | ENST00000614341.5 | protein_coding | 1481 | chr17 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215721068 | T | TTTG | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG03225.hp1 others(3): Show |
a0017a0021a0048others(3): Show | a0017c0008a0021c0030a0048c0015others(3): Show | a0017c0008t0002a0021c0030t0001a0048c0015t0010others(3): Show | a0017c0008t0002g0021 a0021c0030t0001g0048 a0048c0015t0010g0008 others(3): Show |
6 | 72 | 0.0833 | 3 | c.120 others(24): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 61/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215805984 | C | CAAA | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp2 HG03139.hp2 others(2): Show |
a0026a0041a0045others(2): Show | a0026c0018a0041c0049a0045c0002others(2): Show | a0026c0018t0003a0041c0049t0001a0045c0002t0002others(2): Show | a0026c0018t0003g0012 a0041c0049t0001g0063 a0045c0002t0002g0019 others(2): Show |
5 | 40 | 0.1250 | 3 | c.974 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 49/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215811981 | G | GTTT | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03225.hp1 others(1): Show |
a0021a0047a0048others(1): Show | a0021c0030a0047c0044a0048c0015others(1): Show | a0021c0030t0001a0047c0044t0002a0048c0015t0010others(1): Show | a0021c0030t0001g0048 a0047c0044t0002g0073 a0048c0015t0010g0008 others(1): Show |
4 | 37 | 0.1081 | 3 | c.973 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 49/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215836563 | A | ATTT | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0043a0046 | a0043c0039a0046c0007 | a0043c0039t0002a0046c0007t0001 | a0043c0039t0002g0030 a0046c0007t0001g0010 |
2 | 25 | 0.0800 | 3 | c.937 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 47/71 | chr1 | TogoVar | |||||||
USH2A_chr1_215617891_216428448 | 215926614 | C | CTTT | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02717.hp2 others(6): Show |
a0024a0028a0034others(6): Show | a0024c0032a0028c0005a0034c0045others(6): Show | a0024c0032t0005a0028c0005t0002a0034c0045t0006others(6): Show | a0024c0032t0005g0032 a0028c0005t0002g0022 a0034c0045t0006g0028 others(6): Show |
9 | 12 | 0.7500 | 3 | c.730 others(22): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 38/71 | chr1 | TogoVar |