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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC1_chr9_72516608_72843297 | 72591732 | A | ATTTTG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00609.hp2 others(88): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0012others(20): Show | a0001c0001t0003g0001 a0001c0001t0004g0028 a0001c0001t0004g0069 others(88): Show |
91 | 180 | 0.5056 | 5 | c.-30 others(26): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72672885 | C | CACACA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(30): Show | a0001c0001t0003g0001 a0001c0001t0006g0099 a0001c0001t0012g0103 others(104): Show |
107 | 180 | 0.5944 | 5 | c.17- others(22): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72689535 | T | TATTAC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(48): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0007 | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(17): Show | a0001c0003t0001g0005 a0001c0003t0001g0009 a0001c0003t0001g0014 others(48): Show |
51 | 180 | 0.2833 | 5 | c.64+ others(18): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 6/23 | chr9 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72753286 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006a0001c0003t0007 | a0001c0001t0006g0099 a0001c0003t0006g0098 a0001c0003t0007g0180 others(2): Show |
5 | 63 | 0.0794 | 5 | c.642 others(22): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72814896 | T | TGTGTG | intron_variant | MODIFIER | HG00609.hp1 HG02698.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 a0001c0001t0002g0177 |
2 | 39 | 0.0513 | 5 | c.169 others(24): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 18/23 | chr9 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2578713 | A | AGAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(28): Show |
a0001a0003a0008others(3): Show | a0001c0013a0003c0007a0003c0011others(10): Show | a0001c0013t0004a0003c0007t0001a0003c0007t0003others(16): Show | a0001c0013t0004g0057 a0003c0007t0001g0176 a0003c0007t0001g0235 others(28): Show |
31 | 342 | 0.0906 | 5 | c.646 others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2591765 | G | GGAAAA | intron_variant | MODIFIER | HG00408.hp2 NA18950.hp1 NA18956.hp2 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0066 a0002c0004t0002g0316 a0002c0004t0002g0317 others(1): Show |
4 | 342 | 0.0117 | 5 | c.835 others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2629529 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG02647.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0068 a0001c0001t0001g0239 a0001c0001t0004g0031 others(7): Show |
10 | 81 | 0.1235 | 5 | c.230 others(24): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2631135 | A | ATATCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(262): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0010others(35): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(68): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(261): Show |
265 | 342 | 0.7749 | 5 | c.230 others(24): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2637387 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0013others(22): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(162): Show |
166 | 247 | 0.6721 | 5 | c.238 others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC4_chr19_54155108_54178160 | 54168793 | C | CTTTCT | intron_variant | MODIFIER | HG02523.hp1 HG06807.hp2 NA18943.hp2 |
a0002a0007 | a0002c0002a0007c0008 | a0002c0002t0002a0007c0008t0002 | a0002c0002t0002g0012 a0002c0002t0002g0310 a0007c0008t0002g0344 |
3 | 210 | 0.0143 | 5 | c.443 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54177900 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01934.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(6): Show | a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0125 others(28): Show |
31 | 88 | 0.3523 | 5 | c.-47 others(16): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 4741 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19417094 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01175.hp2 HG02027.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0257 a0001c0001t0002g0065 a0001c0001t0002g0147 others(11): Show |
14 | 53 | 0.2642 | 5 | c.-13 others(16): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 788 | chr16 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19457709 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0150 a0001c0001t0001g0221 others(30): Show |
33 | 116 | 0.2845 | 5 | c.104 others(24): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490903 | C | CTCCCT | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(78): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0015others(4): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(7): Show | a0001c0001t0002g0007 a0001c0001t0002g0032 a0001c0001t0002g0065 others(78): Show |
81 | 207 | 0.3913 | 5 | c.274 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19493465 | C | CTCTCT | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0024 | a0001c0001t0008g0001 a0001c0001t0008g0096 a0001c0001t0008g0138 others(8): Show |
11 | 248 | 0.0444 | 5 | c.282 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78118557 | A | AAAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(301): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0005a0001c0017others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0162 a0001c0001t0001g0174 a0001c0001t0001g0239 others(294): Show |
304 | 441 | 0.6893 | 5 | c.188 others(22): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 15/19 | chr17 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 18979795 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp2 HG02572.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0010a0002c0002t0005a0002c0002t0024others(5): Show | a0001c0001t0010g0209 a0002c0002t0005g0066 a0002c0002t0024g0199 others(6): Show |
9 | 208 | 0.0433 | 5 | c.-42 others(16): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 4138 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 18991988 | G | GTCTAT | intron_variant | MODIFIER | HG01081.hp2 HG02109.hp2 HG02572.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0007a0001c0001t0010a0001c0001t0026others(6): Show | a0001c0001t0007g0204 a0001c0001t0007g0205 a0001c0001t0007g0206 others(12): Show |
15 | 280 | 0.0536 | 5 | c.67+ others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19010133 | T | TCTCCC | intron_variant | MODIFIER | HG00609.hp1 HG00642.hp2 HG00738.hp2 others(57): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 others(57): Show |
60 | 173 | 0.3468 | 5 | c.311 others(20): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19064952 | G | GTTTTT | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01069.hp1 others(33): Show |
a0001a0002a0008 | a0001c0001a0001c0009a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0028others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0039 a0001c0001t0001g0069 others(32): Show |
36 | 189 | 0.1905 | 5 | c.*31 others(16): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1011 | chr16 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129709497 | A | AAAGAG | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01169.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0081 others(29): Show |
32 | 40 | 0.8000 | 5 | c.577 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129712001 | C | CAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0008a0001c0002t0009others(1): Show | a0001c0002t0005g0170 a0001c0002t0005g0171 a0001c0002t0005g0172 others(10): Show |
13 | 27 | 0.4815 | 5 | c.577 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129770602 | T | TAAATG | intron_variant | MODIFIER | HG02258.hp1 HG03017.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0109 a0001c0001t0002g0198 a0001c0001t0002g0199 others(1): Show |
4 | 241 | 0.0166 | 5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129770632 | G | GAAATA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(69): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0031 a0001c0001t0001g0134 a0001c0001t0001g0139 others(69): Show |
72 | 225 | 0.3200 | 5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129771797 | A | AAAAAG | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG00735.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 others(8): Show |
11 | 57 | 0.1930 | 5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129853791 | A | AAAAAC | intron_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0153 a0001c0001t0008g0154 a0001c0001t0008g0155 others(3): Show |
6 | 256 | 0.0234 | 5 | c.-18 others(26): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129870718 | C | CGGGGG | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00609.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0051 a0001c0001t0001g0053 others(15): Show |
18 | 42 | 0.4286 | 5 | c.-18 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
TMCC2_chr1_205222946_205278343 | 205229545 | C | CGGGGG | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG02027.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0004 | a0001c0001t0001g0009 a0001c0001t0001g0036 a0001c0001t0001g0038 others(14): Show |
19 | 93 | 0.2043 | 5 | c.207 others(20): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCC3_chr12_94562122_94655557 | 94578165 | A | AAAAAG | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02818.hp1 others(4): Show |
a0001a0002 | a0001c0004a0001c0009a0002c0007 | a0001c0004t0002a0001c0004t0004a0001c0009t0050others(3): Show | a0001c0004t0002g0023 a0001c0004t0004g0373 a0001c0004t0004g0374 others(4): Show |
7 | 286 | 0.0245 | 5 | c.113 others(22): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94593370 | A | AAGAAG | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG01433.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0216 others(9): Show |
12 | 374 | 0.0321 | 5 | c.79- others(22): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94652799 | G | GTGTGT | upstream_gene_variant | MODIFIER | HG03927.hp2 NA18954.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003 | a0001c0001t0004g0253 a0001c0001t0004g0258 a0001c0002t0003g0301 |
3 | 190 | 0.0158 | 5 | c.-23 others(16): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 2243 | chr12 | TogoVar | |||||||
TMCO1_chr1_165721795_165773868 | 165722914 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00621.hp2 HG02145.hp1 HG02165.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0133 others(10): Show |
13 | 33 | 0.3939 | 5 | c.*51 others(16): Show |
TMCO1 | ENSG00000143183.18 | transcript | ENST00000367881.11 | protein_coding | 3880 | chr1 | TogoVar | |||||||
TMCO1_chr1_165721795_165773868 | 165730165 | C | CAAAAA | intron_variant | MODIFIER | HG01978.hp2 NA18953.hp1 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0050 others(2): Show |
5 | 102 | 0.0490 | 5 | c.469 others(22): Show |
TMCO1 | ENSG00000143183.18 | transcript | ENST00000367881.11 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
TMCO2_chr1_40242937_40256684 | 40246796 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01891.hp2 HG02027.hp1 others(15): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(6): Show |
18 | 63 | 0.2857 | 5 | c.-11 others(16): Show |
TMCO2 | ENSG00000188800.6 | transcript | ENST00000372766.4 | protein_coding | 1140 | chr1 | TogoVar | |||||||
TMCO2_chr1_40242937_40256684 | 40254797 | T | TTTTCC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(296): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(92): Show |
299 | 424 | 0.7052 | 5 | c.*32 others(16): Show |
TMCO2 | ENSG00000188800.6 | transcript | ENST00000372766.4 | protein_coding | 3114 | chr1 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113543274 | G | GTGCCC | intron_variant | MODIFIER | NA18999.hp2 NA19001.hp1 NA19004.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0250 a0002c0003t0003g0267 a0002c0003t0003g0268 |
3 | 364 | 0.0082 | 5 | c.169 others(24): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113543400 | C | CGCCCT | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01175.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0001g0106 a0001c0001t0004g0100 a0001c0001t0004g0102 others(44): Show |
52 | 346 | 0.1503 | 5 | c.169 others(24): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | |||||||
TMCO3_chr13_113486021_113555229 | 113543437 | C | CGCCCT | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00673.hp1 others(12): Show |
a0001a0002a0003 | a0001c0006a0002c0004a0003c0002 | a0001c0006t0001a0002c0004t0004a0003c0002t0002 | a0001c0006t0001g0027 a0001c0006t0001g0217 a0001c0006t0001g0218 others(8): Show |
15 | 358 | 0.0419 | 5 | c.169 others(24): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 10/12 | chr13 | TogoVar | |||||||
TMCO4_chr1_19677240_19804916 | 19702285 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
a0001a0002a0003others(7): Show | a0001c0002a0001c0003a0001c0006others(14): Show | a0001c0002t0002a0001c0002t0017a0001c0003t0001others(25): Show | a0001c0002t0002g0043 a0001c0002t0002g0090 a0001c0002t0002g0253 others(75): Show |
78 | 185 | 0.4216 | 5 | c.126 others(24): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
TMCO4_chr1_19677240_19804916 | 19721788 | C | CAAACA | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02647.hp1 others(10): Show |
a0001a0003a0007others(2): Show | a0001c0002a0001c0003a0001c0006others(6): Show | a0001c0002t0001a0001c0003t0012a0001c0006t0001others(8): Show | a0001c0002t0001g0018 a0001c0002t0001g0115 a0001c0003t0012g0030 others(10): Show |
13 | 310 | 0.0419 | 5 | c.126 others(26): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 13/15 | chr1 | TogoVar | |||||||
TMCO4_chr1_19677240_19804916 | 19771129 | T | TAAGTC | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00735.hp1 others(20): Show |
a0003a0004a0007others(1): Show | a0003c0011a0003c0015a0003c0029others(5): Show | a0003c0011t0002a0003c0011t0005a0003c0015t0002others(7): Show | a0003c0011t0002g0025 a0003c0011t0002g0250 a0003c0011t0002g0294 others(20): Show |
23 | 310 | 0.0742 | 5 | c.354 others(20): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
TMCO4_chr1_19677240_19804916 | 19797956 | G | GAGAAA | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01109.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0002a0001c0003t0001a0001c0006t0001others(6): Show | a0001c0002t0002g0090 a0001c0003t0001g0111 a0001c0006t0001g0192 others(10): Show |
13 | 82 | 0.1585 | 5 | c.-10 others(22): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 2/15 | chr1 | TogoVar | |||||||
TMED10_chr14_75126469_75181612 | 75135120 | C | CTAACA | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0009 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0078 others(10): Show |
13 | 260 | 0.0500 | 5 | c.539 others(20): Show |
TMED10 | ENSG00000170348.9 | transcript | ENST00000303575.9 | protein_coding | 4/4 | chr14 | TogoVar | |||||||
TMED10_chr14_75126469_75181612 | 75149472 | A | ATAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(251): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(240): Show |
254 | 260 | 0.9769 | 5 | c.338 others(22): Show |
TMED10 | ENSG00000170348.9 | transcript | ENST00000303575.9 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
TMED10_chr14_75126469_75181612 | 75156916 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0040 a0001c0001t0001g0063 others(103): Show |
108 | 136 | 0.7941 | 5 | c.226 others(22): Show |
TMED10 | ENSG00000170348.9 | transcript | ENST00000303575.9 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
TMED10_chr14_75126469_75181612 | 75162021 | C | CCGGGG | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 others(9): Show |
12 | 260 | 0.0462 | 5 | c.226 others(22): Show |
TMED10 | ENSG00000170348.9 | transcript | ENST00000303575.9 | protein_coding | 1/4 | chr14 | TogoVar | |||||||
TMED3_chr15_79306112_79327840 | 79310999 | C | CGGGGG | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01243.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0010 others(17): Show |
41 | 68 | 0.6029 | 5 | c.-25 others(14): Show |
TMED3 | ENSG00000166557.14 | transcript | ENST00000299705.10 | protein_coding | 112 | chr15 | TogoVar | |||||||
TMED5_chr1_93144742_93185413 | 93181159 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01496.hp2 HG02015.hp2 others(15): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0012 others(12): Show |
18 | 136 | 0.1324 | 5 | c.-92 others(14): Show |
TMED5 | ENSG00000117500.13 | transcript | ENST00000370282.8 | protein_coding | 747 | chr1 | TogoVar | |||||||
TMED9_chr5_177587203_177602242 | 177598362 | T | TAAATA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02723.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 5 | 278 | 0.0180 | 5 | c.*29 others(16): Show |
TMED9 | ENSG00000184840.12 | transcript | ENST00000332598.7 | protein_coding | 1121 | chr5 | TogoVar |