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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TJP3_chr19_3703384_3755813 | 3745133 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp2 others(47): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0005a0001c0009others(9): Show | a0001c0002t0001a0001c0005t0001a0001c0009t0001others(11): Show | a0001c0002t0001g0272 a0001c0005t0001g0171 a0001c0009t0001g0130 others(47): Show |
50 | 109 | 0.4587 | -9 | c.194 others(26): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3748848 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01361.hp1 HG01496.hp2 others(3): Show |
a0001a0011 | a0001c0012a0011c0050 | a0001c0012t0001a0001c0012t0004a0011c0050t0004 | a0001c0012t0001g0159 a0001c0012t0001g0361 a0001c0012t0001g0363 others(3): Show |
6 | 127 | 0.0472 | -9 | c.261 others(26): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TJP3_chr19_3703384_3755813 | 3749069 | ACCACGCT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03453.hp2 others(2): Show |
a0002a0023 | a0002c0008a0002c0051a0023c0054 | a0002c0008t0002a0002c0008t0003a0002c0051t0003others(1): Show | a0002c0008t0002g0099 a0002c0008t0003g0035 a0002c0008t0003g0060 others(2): Show |
5 | 396 | 0.0126 | -9 | c.261 others(27): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TK1_chr17_78169091_78192052 | 78169262 | GTGTGTGT others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03098.hp2 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0002a0003c0010t0003 | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0140 others(1): Show |
6 | 406 | 0.0148 | -9 | c.*54 others(20): Show |
TK1 | ENSG00000167900.12 | transcript | ENST00000301634.12 | protein_coding | 4828 | chr17 | TogoVar | |||||||
TKTL1_chrX_154290795_154335350 | 154328545 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(28): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0101 others(27): Show |
31 | 47 | 0.6596 | -9 | c.161 others(26): Show |
TKTL1 | ENSG00000007350.18 | transcript | ENST00000369915.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TKT_chr3_53219712_53261022 | 53225305 | TTGGGGGA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00673.hp1 others(74): Show |
a0001a0007a0009 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0009others(5): Show | a0001c0002t0002g0014 a0001c0002t0002g0016 a0001c0002t0002g0023 others(64): Show |
77 | 376 | 0.2048 | -9 | c.*44 others(18): Show |
TKT | ENSG00000163931.17 | transcript | ENST00000462138.6 | protein_coding | 14/14 | 442 | chr3 | TogoVar | ||||||
TLE1_chr9_81578683_81694547 | 81615081 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01255.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0056 a0001c0001t0001g0066 a0001c0001t0001g0067 others(21): Show |
24 | 56 | 0.4286 | -9 | c.918 others(24): Show |
TLE1 | ENSG00000196781.16 | transcript | ENST00000376499.8 | protein_coding | 11/19 | chr9 | TogoVar | |||||||
TLE1_chr9_81578683_81694547 | 81662360 | TTTGTGTG others(2): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02165.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0163 a0001c0001t0001g0166 |
3 | 353 | 0.0085 | -9 | c.235 others(26): Show |
TLE1 | ENSG00000196781.16 | transcript | ENST00000376499.8 | protein_coding | 4/19 | chr9 | TogoVar | |||||||
TLE2_chr19_2992644_3034280 | 3023908 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01243.hp2 others(13): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0221 a0001c0001t0001g0350 a0001c0001t0001g0351 others(12): Show |
16 | 402 | 0.0398 | -9 | c.294 others(26): Show |
TLE2 | ENSG00000065717.16 | transcript | ENST00000262953.11 | protein_coding | 5/19 | chr19 | TogoVar | |||||||
TLE3_chr15_70042790_70102917 | 70082971 | GGGATGGT others(2): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02486.hp2 HG02615.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0057a0001c0001t0084a0001c0002t0001others(13): Show | a0001c0001t0057g0037 a0001c0001t0084g0225 a0001c0002t0001g0105 others(15): Show |
18 | 382 | 0.0471 | -9 | c.235 others(26): Show |
TLE3 | ENSG00000140332.18 | transcript | ENST00000451782.7 | protein_coding | 4/19 | chr15 | TogoVar | |||||||
TLE4_chr9_79566965_79731882 | 79592183 | CTCTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG02074.hp2 HG03239.hp1 NA18951.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0034 a0001c0001t0003g0037 others(6): Show |
9 | 198 | 0.0455 | -9 | c.252 others(28): Show |
TLE4 | ENSG00000106829.21 | transcript | ENST00000376552.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TLE5_chr19_3047910_3067495 | 3051705 | TATATATA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 374 | 0.0080 | -9 | c.*21 others(20): Show |
TLE5 | ENSG00000104964.15 | transcript | ENST00000327141.9 | protein_coding | 1204 | chr19 | TogoVar | |||||||
TLE5_chr19_3047910_3067495 | 3056272 | AAGGAGGA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0032 a0001c0001t0001g0077 a0001c0001t0001g0227 others(1): Show |
5 | 407 | 0.0123 | -9 | c.234 others(22): Show |
TLE5 | ENSG00000104964.15 | transcript | ENST00000327141.9 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
TLE6_chr19_2972564_3000179 | 2986071 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0076 others(44): Show |
47 | 117 | 0.4017 | -9 | c.223 others(24): Show |
TLE6 | ENSG00000104953.20 | transcript | ENST00000246112.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TLE6_chr19_2972564_3000179 | 2990694 | TAAATATA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01099.hp2 others(8): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(4): Show | a0001c0003t0001g0357 a0001c0003t0001g0361 a0001c0003t0002g0066 others(8): Show |
11 | 408 | 0.0270 | -9 | c.124 others(26): Show |
TLE6 | ENSG00000104953.20 | transcript | ENST00000246112.9 | protein_coding | 13/16 | chr19 | TogoVar | |||||||
TLK1_chr2_170985823_171165893 | 171015662 | CTCATGTC others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02647.hp2 HG02896.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020a0001c0001t0026others(1): Show | a0001c0001t0011g0205 a0001c0001t0011g0206 a0001c0001t0020g0001 others(2): Show |
6 | 264 | 0.0227 | -9 | c.123 others(26): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 12/20 | chr2 | TogoVar | |||||||
TLK1_chr2_170985823_171165893 | 171091715 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG02486.hp1 HG02647.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0020others(3): Show | a0001c0001t0001g0149 a0001c0001t0001g0159 a0001c0001t0011g0205 others(5): Show |
9 | 45 | 0.2000 | -9 | c.259 others(26): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
TLK1_chr2_170985823_171165893 | 171160966 | AGCGGCGG others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02717.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0022a0001c0001t0044others(2): Show | a0001c0001t0011g0206 a0001c0001t0022g0246 a0001c0001t0022g0247 others(3): Show |
6 | 259 | 0.0232 | -9 | c.-54 others(18): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 74 | chr2 | TogoVar | |||||||
TLL1_chr4_165868237_166109457 | 165974133 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02071.hp1 NA18612.hp2 NA18961.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0179 a0001c0001t0003g0115 a0001c0001t0003g0123 others(4): Show |
7 | 94 | 0.0745 | -9 | c.170 others(28): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96380692 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG01081.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0008a0001c0002t0004a0001c0002t0009others(5): Show | a0001c0001t0008g0025 a0001c0002t0004g0207 a0001c0002t0009g0123 others(11): Show |
14 | 24 | 0.5833 | -9 | c.219 others(28): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 16/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96393721 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0041others(6): Show | a0001c0001t0008g0025 a0001c0001t0014g0005 a0001c0001t0041g0255 others(8): Show |
11 | 254 | 0.0433 | -9 | c.172 others(28): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 13/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96450353 | CACCTGGG others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(117): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0030 others(117): Show |
120 | 254 | 0.4724 | -9 | c.287 others(26): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
TLR2_chr4_153679280_153711260 | 153679654 | TTCCTGCT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(320): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(92): Show |
323 | 430 | 0.7512 | -9 | c.-48 others(20): Show |
TLR2 | ENSG00000137462.9 | transcript | ENST00000642700.2 | protein_coding | 4625 | chr4 | TogoVar | |||||||
TLR5_chr1_223104404_223148248 | 223108950 | TGAAGAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00621.hp1 others(87): Show |
a0002a0004a0015 | a0002c0002a0002c0011a0004c0005others(2): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0015others(9): Show | a0002c0002t0002g0002 a0002c0002t0002g0008 a0002c0002t0002g0009 others(69): Show |
90 | 366 | 0.2459 | -9 | c.*14 others(20): Show |
TLR5 | ENSG00000187554.14 | transcript | ENST00000642603.2 | protein_coding | 453 | chr1 | TogoVar | |||||||
TLR7_chrX_12862072_12895361 | 12879647 | CAGGAGAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01106.hp1 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0039 others(45): Show |
59 | 319 | 0.1850 | -9 | c.4-5 others(22): Show |
TLR7 | ENSG00000196664.5 | transcript | ENST00000380659.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TM2D1_chr1_61676046_61730141 | 61701310 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 others(3): Show |
6 | 45 | 0.1333 | -9 | c.348 others(24): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61721548 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01255.hp2 HG01496.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0344 a0001c0001t0002g0348 others(11): Show |
16 | 386 | 0.0415 | -9 | c.238 others(26): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
TM4SF20_chr2_227357038_227384306 | 227366716 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02040.hp2 HG03195.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0004t0005others(1): Show | a0001c0001t0001g0007 a0001c0001t0005g0023 a0001c0001t0005g0026 others(10): Show |
15 | 31 | 0.4839 | -9 | c.250 others(24): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
TM4SF5_chr17_4766886_4788211 | 4781135 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0049 a0001c0001t0001g0067 a0001c0001t0001g0148 others(8): Show |
23 | 203 | 0.1133 | -9 | c.258 others(24): Show |
TM4SF5 | ENSG00000142484.7 | transcript | ENST00000270560.4 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TM7SF3_chr12_26966579_27019384 | 26991141 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02109.hp1 HG02723.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0020a0001c0001t0027a0002c0002t0014others(1): Show | a0001c0001t0020g0343 a0001c0001t0020g0357 a0001c0001t0027g0232 others(3): Show |
6 | 255 | 0.0235 | -9 | c.691 others(24): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 5/11 | chr12 | TogoVar | |||||||
TM9SF1_chr14_24184149_24200441 | 24197086 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01074.hp2 others(21): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0006c0006t0002 | a0001c0001t0002g0005 a0001c0001t0002g0061 a0001c0001t0002g0117 others(2): Show |
24 | 180 | 0.1333 | -9 | c.-17 others(20): Show |
TM9SF1 | ENSG00000100926.15 | transcript | ENST00000261789.9 | protein_coding | 1646 | chr14 | TogoVar | |||||||
TM9SF3_chr10_96513110_96592012 | 96553598 | CTGGCTGC others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01884.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0004g0012 a0001c0001t0004g0049 a0001c0001t0004g0050 others(25): Show |
34 | 346 | 0.0983 | -9 | c.661 others(24): Show |
TM9SF3 | ENSG00000077147.16 | transcript | ENST00000371142.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32116862 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01361.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0113 others(33): Show |
37 | 120 | 0.3083 | -9 | c.15+ others(24): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2598413 | TATTTATT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp1 HG02717.hp1 others(6): Show |
a0001a0003a0009others(2): Show | a0001c0013a0001c0037a0003c0011others(5): Show | a0001c0013t0001a0001c0013t0004a0001c0037t0010others(6): Show | a0001c0013t0001g0010 a0001c0013t0004g0293 a0001c0037t0010g0272 others(6): Show |
9 | 342 | 0.0263 | -9 | c.122 others(28): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 10/19 | chr20 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168950 | TCCTTCCT others(2): Show |
T | intron_variant | MODIFIER | HG00673.hp2 NA18975.hp2 NA18980.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0017 a0005c0006t0002g0375 a0005c0006t0002g0376 others(1): Show |
5 | 406 | 0.0123 | -9 | c.443 others(24): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169004 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp1 others(55): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(49): Show |
58 | 403 | 0.1439 | -9 | c.443 others(24): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169030 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01346.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0054 a0001c0001t0001g0249 a0002c0002t0002g0278 others(13): Show |
16 | 406 | 0.0394 | -9 | c.443 others(24): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129764789 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01069.hp1 HG01516.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0106 others(5): Show |
8 | 181 | 0.0442 | -9 | c.576 others(28): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94564362 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03195.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002a0001c0003t0022others(1): Show | a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0239 others(3): Show |
6 | 89 | 0.0674 | -9 | c.*70 others(20): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 2759 | chr12 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113544428 | AGGTGGTC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00597.hp1 others(25): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0009a0002c0004others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0009t0004others(4): Show | a0001c0001t0004g0018 a0001c0001t0004g0093 a0001c0001t0004g0094 others(23): Show |
28 | 366 | 0.0765 | -9 | c.169 others(28): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | |||||||
TMCO4_chr1_19677240_19804916 | 19693164 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(51): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0003a0001c0006others(10): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0012others(13): Show | a0001c0002t0001g0018 a0001c0002t0001g0028 a0001c0002t0001g0124 others(51): Show |
54 | 142 | 0.3803 | -9 | c.150 others(28): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 15/15 | chr1 | TogoVar | |||||||
TMED10_chr14_75126469_75181612 | 75170047 | GAAATACA others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01496.hp1 HG03098.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0243 a0001c0001t0007g0244 a0001c0001t0007g0249 others(3): Show |
6 | 260 | 0.0231 | -9 | c.225 others(26): Show |
TMED10 | ENSG00000170348.9 | transcript | ENST00000303575.9 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
TMED1_chr19_10827067_10841212 | 10837465 | CTTTTCTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02698.hp1 HG02738.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 399 | 0.0100 | -9 | c.-12 others(20): Show |
TMED1 | ENSG00000099203.7 | transcript | ENST00000214869.7 | protein_coding | 1254 | chr19 | TogoVar | |||||||
TMED8_chr14_77330029_77382094 | 77372907 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0018a0001c0001t0051others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0137 a0001c0001t0001g0145 others(7): Show |
10 | 256 | 0.0391 | -9 | c.118 others(26): Show |
TMED8 | ENSG00000100580.8 | transcript | ENST00000216468.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
TMED8_chr14_77330029_77382094 | 77372943 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0017 | a0001c0001t0012g0015 a0002c0002t0017g0055 |
3 | 323 | 0.0093 | -9 | c.118 others(26): Show |
TMED8 | ENSG00000100580.8 | transcript | ENST00000216468.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
TMED8_chr14_77330029_77382094 | 77372944 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01243.hp1 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0042a0003c0003t0007a0003c0003t0030 | a0002c0002t0042g0050 a0003c0003t0007g0005 a0003c0003t0007g0084 others(2): Show |
7 | 322 | 0.0217 | -9 | c.118 others(26): Show |
TMED8 | ENSG00000100580.8 | transcript | ENST00000216468.8 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
TMEM104_chr17_74771499_74844753 | 74783721 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(84): Show |
a0001a0004a0006 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0082 a0001c0001t0002g0008 a0001c0001t0002g0009 others(82): Show |
87 | 183 | 0.4754 | -9 | c.46- others(24): Show |
TMEM104 | ENSG00000109066.14 | transcript | ENST00000335464.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM104_chr17_74771499_74844753 | 74786342 | AGGAGCAC others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(87): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0082 a0001c0001t0001g0182 a0001c0001t0001g0183 others(86): Show |
90 | 302 | 0.2980 | -9 | c.167 others(24): Show |
TMEM104 | ENSG00000109066.14 | transcript | ENST00000335464.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM108_chr3_133033391_133402775 | 133181008 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG03516.hp1 HG04204.hp1 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0034 a0001c0001t0002g0095 a0001c0001t0002g0154 others(2): Show |
5 | 11 | 0.4545 | -9 | c.-46 others(28): Show |
TMEM108 | ENSG00000144868.14 | transcript | ENST00000321871.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TMEM108_chr3_133033391_133402775 | 133309682 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0006g0033 a0001c0001t0007g0153 a0001c0001t0011g0018 others(6): Show |
9 | 11 | 0.8182 | -9 | c.41- others(26): Show |
TMEM108 | ENSG00000144868.14 | transcript | ENST00000321871.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |