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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLK1_chr2_170985823_171165893 | 171103264 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01975.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0101 a0001c0001t0004g0209 a0001c0001t0010g0099 |
3 | 199 | 0.0151 | 22 | c.258 others(41): Show |
TLK1 | ENSG00000198586.14 | transcript | ENST00000431350.7 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
TLK2_chr17_62473825_62620481 | 62540400 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02683.hp2 HG03041.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0002t0003g0065 others(2): Show |
5 | 24 | 0.2083 | 22 | c.531 others(39): Show |
TLK2 | ENSG00000146872.19 | transcript | ENST00000346027.10 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TLK2_chr17_62473825_62620481 | 62546344 | G | GTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03041.hp2 NA18983.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0181 a0001c0001t0004g0152 a0001c0002t0002g0004 others(1): Show |
4 | 17 | 0.2353 | 22 | c.532 others(39): Show |
TLK2 | ENSG00000146872.19 | transcript | ENST00000346027.10 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TLK2_chr17_62473825_62620481 | 62549419 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 149 | 0.0067 | 22 | c.532 others(39): Show |
TLK2 | ENSG00000146872.19 | transcript | ENST00000346027.10 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 165923421 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01928.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030a0001c0001t0075 | a0001c0001t0004g0249 a0001c0001t0030g0245 a0001c0001t0075g0248 |
3 | 43 | 0.0698 | 22 | c.169 others(41): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0068 | 1 | 71 | 0.0141 | 22 | c.152 others(41): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TLL1_chr4_165868237_166109457 | 166052965 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03139.hp1 HG03471.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0014 | a0001c0001t0001g0070 a0001c0001t0001g0078 a0001c0001t0002g0079 others(1): Show |
4 | 74 | 0.0541 | 22 | c.152 others(41): 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(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03195.hp1 |
a0001a0004 | a0001c0007a0004c0006 | a0001c0007t0064a0004c0006t0032 | a0001c0007t0064g0072 a0004c0006t0032g0028 |
2 | 72 | 0.0278 | 22 | c.152 others(41): Show |
TLL1 | ENSG00000038295.8 | transcript | ENST00000061240.7 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TLL2_chr10_96359608_96518926 | 96476240 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 60 | 0.0167 | 22 | c.286 others(39): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96476248 | T | TTTTTTTG others(15): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0077 | 1 | 91 | 0.0110 | 22 | c.286 others(39): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 2/20 | chr10 | TogoVar | |||||||
TLN1_chr9_35691948_35737195 | 35728402 | T | TGTGGGTG others(15): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 370 | 0.0027 | 22 | c.-33 others(39): Show |
TLN1 | ENSG00000137076.22 | transcript | ENST00000314888.10 | protein_coding | 1/56 | chr9 | TogoVar | |||||||
TLN2_chr15_62385550_62849631 | 62582246 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0131 | 1 | 99 | 0.0101 | 22 | c.-23 others(41): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62582246 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02976.hp1 |
a0001 | a0001c0004a0001c0056 | a0001c0004t0002a0001c0056t0007 | a0001c0004t0002g0123 a0001c0056t0007g0098 |
2 | 100 | 0.0200 | 22 | c.-23 others(41): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62741748 | C | CGCGCGCG others(15): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01256.hp1 HG01258.hp1 |
a0001a0002 | a0001c0005a0002c0064 | a0001c0005t0001a0002c0064t0039 | a0001c0005t0001g0050 a0001c0005t0001g0053 a0002c0064t0039g0108 |
3 | 9 | 0.3333 | 22 | c.402 others(39): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 32/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62741748 | C | CGCGCGCG others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01515.hp1 HG01884.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0008others(17): Show | a0001c0001t0001a0001c0001t0035a0001c0005t0001others(18): Show | a0001c0001t0001g0039 a0001c0001t0035g0012 a0001c0005t0001g0029 others(19): Show |
22 | 28 | 0.7857 | 22 | c.402 others(39): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 32/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLN2_chr15_62385550_62849631 | 62741748 | C | CGCGCGTG others(15): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01952.hp1 HG02071.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0011a0001c0006t0002others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0019 a0001c0004t0011g0046 others(4): Show |
7 | 13 | 0.5385 | 22 | c.402 others(39): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 32/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TLR10_chr4_38767238_38787990 | 38770687 | C | CATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG01081.hp2 HG02155.hp2 others(23): Show |
a0003a0004 | a0003c0003a0003c0010a0004c0004others(1): Show | a0003c0003t0004a0003c0010t0011a0004c0004t0003others(3): Show | a0003c0003t0004g0006 a0003c0010t0011g0017 a0004c0004t0003g0016 others(10): Show |
26 | 244 | 0.1066 | 22 | c.*24 others(33): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1550 | chr4 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38770687 | C | CCTATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01256.hp1 others(14): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0012 | a0001c0001t0014a0002c0002t0002a0007c0012t0002 | a0001c0001t0014g0036 a0002c0002t0002g0002 a0002c0002t0002g0019 others(2): Show |
17 | 235 | 0.0723 | 22 | c.*24 others(33): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1550 | chr4 | TogoVar | |||||||
TLR10_chr4_38767238_38787990 | 38771124 | G | GATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01496.hp1 others(17): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0006a0003c0010others(4): Show | a0002c0002t0002a0003c0006t0003a0003c0010t0002others(4): Show | a0002c0002t0002g0002 a0002c0002t0002g0019 a0003c0006t0003g0009 others(6): Show |
20 | 220 | 0.0909 | 22 | c.*20 others(33): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1113 | chr4 | TogoVar | |||||||
TLR1_chr4_38791255_38809791 | 38792853 | T | TTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02717.hp2 others(10): Show |
a0001a0006a0019 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0002a0001c0004t0002a0001c0008t0005others(2): Show | a0001c0001t0002g0002 a0001c0004t0002g0005 a0001c0008t0005g0010 others(2): Show |
13 | 234 | 0.0556 | 22 | c.*35 others(33): Show |
TLR1 | ENSG00000174125.8 | transcript | ENST00000308979.7 | protein_coding | 3401 | chr4 | TogoVar | |||||||
TLR4_chr9_117699403_117729735 | 117724889 | T | TACACACA others(15): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02818.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0007 a0001c0001t0007g0017 a0001c0001t0011g0005 |
4 | 93 | 0.0430 | 22 | c.*10 others(35): Show |
TLR4 | ENSG00000136869.16 | transcript | ENST00000355622.8 | protein_coding | 155 | chr9 | TogoVar | |||||||
TLR5_chr1_223104404_223148248 | 223141848 | G | GAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03831.hp1 |
a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0051 a0004c0005t0006g0052 |
2 | 323 | 0.0062 | 22 | c.-55 others(37): Show |
TLR5 | ENSG00000187554.14 | transcript | ENST00000642603.2 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
TLR7_chrX_12862072_12895361 | 12892000 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02280.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0057 a0001c0002t0002g0119 |
2 | 42 | 0.0476 | 22 | c.*33 others(33): Show |
TLR7 | ENSG00000196664.5 | transcript | ENST00000380659.4 | protein_coding | 1640 | chrX | TogoVar | |||||||
TLR9_chr3_52216080_52230645 | 52220303 | A | AAGAGAGA others(15): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0009 | 1 | 169 | 0.0059 | 22 | c.*91 others(31): Show |
TLR9 | ENSG00000239732.4 | transcript | ENST00000360658.3 | protein_coding | 776 | chr3 | TogoVar | |||||||
TLX3_chr5_171304248_171317139 | 171313352 | T | TTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 23 | 0.0435 | 22 | c.*17 others(33): Show |
TLX3 | ENSG00000164438.6 | transcript | ENST00000296921.6 | protein_coding | 1214 | chr5 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61691933 | A | AAAAAAAT others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 320 | 0.0031 | 22 | c.513 others(39): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61706834 | A | AAGAAAGA others(15): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 112 | 0.0089 | 22 | c.347 others(39): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
TM4SF18_chr3_149313498_149338636 | 149322905 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0071 | 1 | 75 | 0.0133 | 22 | c.411 others(37): Show |
TM4SF18 | ENSG00000163762.7 | transcript | ENST00000296059.7 | protein_coding | 4/5 | chr3 | TogoVar | |||||||
TM4SF20_chr2_227357038_227384306 | 227368331 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG01255.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 a0001c0001t0003g0253 |
2 | 416 | 0.0048 | 22 | c.250 others(39): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32123164 | A | AGGGAGAG others(15): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284 | 1 | 295 | 0.0034 | 22 | c.16- others(37): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123170 | A | AGGGGGAG others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG01978.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0067 a0001c0001t0001g0070 others(11): Show |
14 | 284 | 0.0493 | 22 | c.16- others(37): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18969.hp1 NA18975.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0101 a0001c0001t0001g0125 |
3 | 53 | 0.0566 | 22 | c.16- others(37): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 51 | 0.0196 | 22 | c.16- others(37): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMBIM4_chr12_66130846_66174996 | 66155335 | T | TGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG00735.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0061 a0001c0001t0001g0069 others(3): Show |
6 | 130 | 0.0462 | 22 | c.98- others(37): Show |
TMBIM4 | ENSG00000155957.19 | transcript | ENST00000358230.8 | protein_coding | 1/6 | chr12 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49745028 | G | GGTTAGGC others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0133 | 1 | 302 | 0.0033 | 22 | c.-31 others(39): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 41 | 0.0244 | 22 | c.-30 others(41): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72650881 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(49): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(3): Show | a0002c0002t0001g0007 a0002c0002t0001g0023 a0002c0002t0001g0024 others(49): Show |
52 | 153 | 0.3399 | 22 | c.16+ others(37): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02109.hp2 HG02622.hp2 others(6): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0024others(4): Show | a0001c0001t0004a0001c0001t0009a0002c0002t0001others(5): Show | a0001c0001t0004g0031 a0001c0001t0004g0298 a0001c0001t0009g0170 others(6): Show |
9 | 118 | 0.0763 | 22 | c.835 others(39): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 HG02523.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0003others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0320 a0001c0001t0004g0286 others(6): Show |
9 | 24 | 0.3750 | 22 | c.835 others(39): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTTTGTGT others(15): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0170 | 1 | 16 | 0.0625 | 22 | c.835 others(39): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0235 | 1 | 37 | 0.0270 | 22 | c.238 others(39): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2644098 | A | ACTCTGGC others(15): Show |
downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 203 | 0.0049 | 22 | c.*27 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 519 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2644098 | A | ACTCTGGC others(15): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(136): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(135): Show |
139 | 341 | 0.4076 | 22 | c.*27 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 519 | chr20 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54174280 | A | AGGCCTTC others(15): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 406 | 0.0025 | 22 | c.-11 others(33): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 1121 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GAGATATA others(15): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0194 | 1 | 170 | 0.0059 | 22 | c.282 others(39): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATAGATA others(15): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0320 | 1 | 170 | 0.0059 | 22 | c.282 others(39): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02080.hp1 HG02602.hp2 others(6): Show |
a0001a0002a0012 | a0001c0001a0002c0002a0012c0020 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0153 others(6): Show |
9 | 178 | 0.0506 | 22 | c.282 others(39): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19064343 | C | CTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG02083.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0270 a0001c0001t0030g0271 |
2 | 224 | 0.0089 | 22 | c.*25 others(33): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 402 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064345 | C | CTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0244 a0001c0001t0028g0245 |
2 | 188 | 0.0106 | 22 | c.*25 others(33): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 404 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064347 | C | CTGTGTGT others(15): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 HG03453.hp1 |
a0005 | a0005c0007 | a0005c0007t0013 | a0005c0007t0013g0200 a0005c0007t0013g0202 |
2 | 52 | 0.0385 | 22 | c.*25 others(33): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 406 | chr16 | TogoVar |