| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| THSD7B_chr2_136760545_137682718 | 137211338 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0047 | 1 | 98 | 0.0102 | 40 | c.172 others(61): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| THSD7B_chr2_136760545_137682718 | 137211340 | A | ACACACAC others(33): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 |
a0001 | a0001c0031a0001c0036 | a0001c0031t0004a0001c0036t0002 | a0001c0031t0004g0060a0001c0036t0002g0051 | 2 | 98 | 0.0204 | 40 | c.172 others(61): Show |
THSD7B | ENSG00000144229.13 | transcript | ENST00000409968.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TIAM1_chr21_31113418_31349261 | 31228244 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 212 | 0.0047 | 40 | c.158 others(59): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
| TIAM1_chr21_31113418_31349261 | 31228245 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0103 | 1 | 212 | 0.0047 | 40 | c.158 others(59): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
| TIAM1_chr21_31113418_31349261 | 31228246 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0005 | a0003c0005t0012 | a0003c0005t0012g0057 | 1 | 212 | 0.0047 | 40 | c.158 others(59): Show |
TIAM1 | ENSG00000156299.15 | transcript | ENST00000541036.6 | protein_coding | 6/27 | chr21 | TogoVar | ||||||
| TIGD4_chr4_152764354_152784730 | 152765364 | C | CGGGGCGG others(33): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00735.hp2 HG00741.hp2 others(46): Show |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0001a0001c0001t0002a0008c0008t0001 | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0048others(9): Show | 49 | 424 | 0.1156 | 40 | c.*41 others(51): Show |
TIGD4 | ENSG00000169989.3 | transcript | ENST00000304337.3 | protein_coding | 3989 | chr4 | TogoVar | ||||||
| TIGD4_chr4_152764354_152784730 | 152765401 | G | GGATGGGG others(33): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 424 | 0.0024 | 40 | c.*40 others(51): Show |
TIGD4 | ENSG00000169989.3 | transcript | ENST00000304337.3 | protein_coding | 3952 | chr4 | TogoVar | ||||||
| TIMELESS_chr12_56411363_56454426 | 56420029 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0153 | 1 | 402 | 0.0025 | 40 | c.322 others(57): Show |
TIMELESS | ENSG00000111602.12 | transcript | ENST00000553532.6 | protein_coding | 26/28 | chr12 | TogoVar | ||||||
| TIMM13_chr19_2420625_2432586 | 2426211 | A | ATGCATTT others(33): Show |
3_prime_UTR_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0023 | 1 | 302 | 0.0033 | 40 | c.*73 others(49): Show |
TIMM13 | ENSG00000099800.8 | transcript | ENST00000215570.8 | protein_coding | 3/3 | 736 | chr19 | TogoVar | |||||
| TIMM22_chr17_992129_1008671 | 999358 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 439 | 0.0023 | 40 | c.436 others(55): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TIMM9_chr14_58403495_58432531 | 58404099 | G | GTGTGTGT others(33): Show |
downstream_gene_variant | MODIFIER | NA18951.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0252 | 2 | 378 | 0.0053 | 40 | c.*49 others(51): Show |
TIMM9 | ENSG00000100575.14 | transcript | ENST00000395159.7 | protein_coding | 4395 | chr14 | TogoVar | ||||||
| TIMP2_chr17_78847977_78930387 | 78904091 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01071.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0012 | a0001c0001t0003g0300a0001c0001t0003g0301a0001c0001t0005g0296others(3): Show | 6 | 316 | 0.0190 | 40 | c.130 others(59): Show |
TIMP2 | ENSG00000035862.13 | transcript | ENST00000262768.11 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| TIMP2_chr17_78847977_78930387 | 78904091 | A | ATGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02572.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(2): Show | a0001c0001t0001g0181a0001c0001t0001g0210a0001c0001t0002g0044others(4): Show | 7 | 316 | 0.0222 | 40 | c.130 others(59): Show |
TIMP2 | ENSG00000035862.13 | transcript | ENST00000262768.11 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| TIMP3_chr22_32796705_32868041 | 32814324 | A | AAAGAAAG others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01069.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0003g0122a0001c0001t0004g0020a0001c0001t0004g0142others(43): Show | 54 | 368 | 0.1467 | 40 | c.121 others(59): Show |
TIMP3 | ENSG00000100234.12 | transcript | ENST00000266085.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TLDC2_chr20_36871138_36899235 | 36880058 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 384 | 0.0026 | 40 | c.343 others(55): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TLDC2_chr20_36871138_36899235 | 36880070 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG02155.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0007a0002c0003t0001 | a0001c0001t0001g0029a0001c0001t0001g0042a0001c0001t0001g0190others(6): Show | 10 | 384 | 0.0260 | 40 | c.343 others(55): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TLDC2_chr20_36871138_36899235 | 36880070 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01346.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0279a0001c0001t0001g0280 | 3 | 384 | 0.0078 | 40 | c.343 others(55): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TLDC2_chr20_36871138_36899235 | 36890396 | C | CCCTTTCT others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(15): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0009 | a0001c0001t0001a0001c0002t0001a0007c0009t0001 | a0001c0001t0001g0009a0001c0001t0001g0025a0001c0001t0001g0071others(12): Show | 18 | 384 | 0.0469 | 40 | c.*17 others(55): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 6/6 | chr20 | TogoVar | ||||||
| TLDC2_chr20_36871138_36899235 | 36890396 | C | CTCTTTCT others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0293 | 1 | 384 | 0.0026 | 40 | c.*17 others(57): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TLE2_chr19_2992644_3034280 | 3026586 | T | TATCTCAG others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0029a0001c0001t0001g0381a0001c0001t0002g0382others(6): Show | 9 | 404 | 0.0223 | 40 | c.231 others(57): Show |
TLE2 | ENSG00000065717.16 | transcript | ENST00000262953.11 | protein_coding | 4/19 | chr19 | TogoVar | ||||||
| TLK1_chr2_170985823_171165893 | 171103264 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02717.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0036 | a0001c0001t0004g0073a0001c0001t0004g0108a0001c0001t0036g0095 | 3 | 266 | 0.0113 | 40 | c.258 others(59): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
| TLK2_chr17_62473825_62620481 | 62540400 | A | ATTTTTTT others(33): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0072 | 1 | 292 | 0.0034 | 40 | c.531 others(57): Show |
TLK2 | ENSG00000146872.19 | transcript | ENST00000346027.10 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01099.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0085a0001c0001t0001g0143a0001c0001t0001g0169others(16): Show | 19 | 250 | 0.0760 | 40 | c.152 others(59): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02055.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0036a0001c0001t0004g0060 | 2 | 250 | 0.0080 | 40 | c.152 others(59): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| TLL2_chr10_96359608_96518926 | 96361946 | A | ATACAATA others(33): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0173 | 1 | 256 | 0.0039 | 40 | c.*61 others(51): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2661 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96361946 | A | ATACAATA others(33): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 NA19240.hp1 |
a0001a0005 | a0001c0003a0005c0023 | a0001c0003t0003a0005c0023t0003 | a0001c0003t0003g0099a0005c0023t0003g0228 | 2 | 256 | 0.0078 | 40 | c.*61 others(51): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2661 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96361976 | G | GTACAGTA others(33): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 NA18990.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0001 | a0001c0001t0002g0146a0001c0007t0001g0071 | 2 | 256 | 0.0078 | 40 | c.*61 others(51): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2631 | chr10 | TogoVar | ||||||
| TLL2_chr10_96359608_96518926 | 96361976 | G | GTACAGTA others(33): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0157 | 2 | 256 | 0.0078 | 40 | c.*61 others(51): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2631 | chr10 | TogoVar | ||||||
| TLN2_chr15_62385550_62849631 | 62631518 | C | CTTCCTTT others(33): Show |
intron_variant | MODIFIER | HG02109.hp2 HG06807.hp2 |
a0001a0002 | a0001c0002a0002c0009 | a0001c0002t0004a0002c0009t0007 | a0001c0002t0004g0085a0002c0009t0007g0091 | 2 | 144 | 0.0139 | 40 | c.-37 others(59): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 3/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| TLN2_chr15_62385550_62849631 | 62690276 | G | GCTCCTCA others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02559.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0008others(6): Show | a0001c0002t0004a0001c0002t0016a0001c0004t0005others(9): Show | a0001c0002t0004g0083a0001c0002t0016g0143a0001c0004t0005g0117others(10): Show | 13 | 144 | 0.0903 | 40 | c.111 others(59): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 12/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| TLNRD1_chr15_80995923_81010788 | 81007531 | A | ATATTTAC others(33): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 358 | 0.0028 | 40 | c.*41 others(51): Show |
TLNRD1 | ENSG00000140406.4 | transcript | ENST00000267984.4 | protein_coding | 1744 | chr15 | TogoVar | ||||||
| TLR1_chr4_38791255_38809791 | 38792853 | T | TTATATAT others(33): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 NA18994.hp2 NA19077.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0002a0001c0004t0002g0005 | 3 | 446 | 0.0067 | 40 | c.*36 others(51): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 3401 | chr4 | TogoVar | ||||||
| TLR1_chr4_38791255_38809791 | 38807368 | T | TGGCCGCC others(33): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02027.hp2 HG02698.hp2 others(3): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0014 | 6 | 446 | 0.0135 | 40 | c.-28 others(51): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 2578 | chr4 | TogoVar | ||||||
| TM2D1_chr1_61676046_61730141 | 61706834 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 388 | 0.0026 | 40 | c.347 others(57): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
| TM2D3_chr15_101636848_101657381 | 101646404 | A | AGCACTCA others(33): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0002a0001c0003a0001c0010 | a0001c0002t0001a0001c0003t0001a0001c0010t0001 | a0001c0002t0001g0004a0001c0002t0001g0041a0001c0002t0001g0112others(3): Show | 30 | 422 | 0.0711 | 40 | c.502 others(55): Show |
TM2D3 | ENSG00000184277.13 | transcript | ENST00000333202.8 | protein_coding | 4/5 | chr15 | TogoVar | ||||||
| TM4SF20_chr2_227357038_227384306 | 227368331 | T | TTATATAT others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0285 | 1 | 470 | 0.0021 | 40 | c.250 others(57): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
| TMBIM4_chr12_66130846_66174996 | 66155335 | T | TGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 352 | 0.0028 | 40 | c.98- others(55): Show |
TMBIM4 | ENSG00000155957.19 | transcript | ENST00000358230.8 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
| TMC2_chr20_2531573_2648580 | 2545837 | G | GAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 | 1 | 344 | 0.0029 | 40 | c.82+ others(55): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| TMC5_chr16_19412883_19504113 | 19434191 | T | TATATATC others(33): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 336 | 0.0030 | 40 | c.-80 others(57): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TMC5_chr16_19412883_19504113 | 19434191 | T | TATATATC others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(125): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0018 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0008others(125): Show | 128 | 336 | 0.3810 | 40 | c.-80 others(57): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TMC5_chr16_19412883_19504113 | 19438435 | G | GAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG01257.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0110a0001c0001t0001g0209a0001c0001t0001g0254others(21): Show | 24 | 336 | 0.0714 | 40 | c.-79 others(57): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543128 | C | CGGACCCC others(33): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0298 | 1 | 368 | 0.0027 | 40 | c.169 others(59): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543148 | G | GCCCCCCG others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 368 | 0.0027 | 40 | c.169 others(59): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543335 | A | ACCCCCTC others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01243.hp2 HG01256.hp1 others(22): Show |
a0002a0003 | a0002c0004a0003c0002a0003c0014 | a0002c0004t0005a0003c0002t0002a0003c0014t0009 | a0002c0004t0005g0311a0002c0004t0005g0312a0003c0002t0002g0008others(20): Show | 25 | 368 | 0.0679 | 40 | c.169 others(59): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543335 | A | ACCCCCTC others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 368 | 0.0027 | 40 | c.169 others(59): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| TMCO3_chr13_113486021_113555229 | 113543378 | C | CACCTCCT others(33): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01243.hp2 others(26): Show |
a0002a0003 | a0002c0004a0003c0002a0003c0014others(1): Show | a0002c0004t0005a0003c0002t0002a0003c0014t0009others(1): Show | a0002c0004t0005g0311a0002c0004t0005g0312a0003c0002t0002g0008others(24): Show | 29 | 368 | 0.0788 | 40 | c.169 others(59): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | ||||||
| TMCO4_chr1_19677240_19804916 | 19802922 | C | CATATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0040 | a0002c0040t0002 | a0002c0040t0002g0046 | 1 | 312 | 0.0032 | 40 | c.-32 others(51): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 3007 | chr1 | TogoVar | ||||||
| TMCO6_chr5_140634451_140650404 | 140637974 | C | CCTTTCTT others(33): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 406 | 0.0025 | 40 | c.-15 others(51): Show |
TMCO6 | ENSG00000113119.13 | transcript | ENST00000394671.8 | protein_coding | 1476 | chr5 | TogoVar | ||||||
| TMEM106A_chr17_43206875_43225041 | 43223459 | T | TACACACA others(33): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG01070.hp2 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0024 | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0013others(3): Show | 6 | 374 | 0.0160 | 40 | c.*56 others(51): Show |
TMEM106A | ENSG00000184988.8 | transcript | ENST00000612339.4 | protein_coding | 3419 | chr17 | TogoVar | ||||||
| TMEM108_chr3_133033391_133402775 | 133073510 | C | CTCTCTCT others(33): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 220 | 0.0046 | 40 | c.-47 others(59): Show |
TMEM108 | ENSG00000144868.14 | transcript | ENST00000321871.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |