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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC1_chr9_72516608_72843297 | 72700713 | C | CAT | intron_variant | MODIFIER | HG02074.hp1 HG03834.hp1 NA19004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0026 | a0001c0001t0002g0124a0001c0001t0002g0126a0001c0001t0002g0144others(4): Show | 7 | 182 | 0.0385 | 2 | c.362 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72700761 | T | TAC | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG01109.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0012a0001c0001t0031a0001c0003t0003others(9): Show | a0001c0001t0012g0103a0001c0001t0012g0104a0001c0001t0012g0105others(15): Show | 18 | 182 | 0.0989 | 2 | c.362 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72708507 | C | CTT | intron_variant | MODIFIER | HG00735.hp1 HG01928.hp1 HG01952.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0038a0002c0002t0001g0039a0002c0002t0001g0040others(10): Show | 13 | 182 | 0.0714 | 2 | c.362 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72723272 | G | GAA | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(52): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0002c0002t0003a0002c0002t0007others(4): Show | a0002c0002t0001g0005a0002c0002t0001g0023a0002c0002t0001g0024others(52): Show | 55 | 182 | 0.3022 | 2 | c.363 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72725323 | A | ATG | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG02976.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0016a0001c0003t0007a0001c0003t0009others(3): Show | a0001c0001t0016g0118a0001c0003t0007g0180a0001c0003t0009g0018others(4): Show | 7 | 182 | 0.0385 | 2 | c.363 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72725325 | G | GTA | intron_variant | MODIFIER | HG00639.hp1 HG01928.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0133a0001c0001t0002g0138a0001c0001t0002g0139others(6): Show | 9 | 182 | 0.0495 | 2 | c.363 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72740850 | C | CAT | intron_variant | MODIFIER | HG02258.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0099a0001c0001t0014g0080 | 2 | 182 | 0.0110 | 2 | c.453 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 9/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72743566 | C | CAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0014others(13): Show | a0001c0001t0003g0001a0001c0001t0006g0099a0001c0001t0014g0080others(32): Show | 35 | 182 | 0.1923 | 2 | c.535 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72746580 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00639.hp2 others(57): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0003t0003a0002c0002t0001others(6): Show | a0001c0001t0002g0163a0001c0001t0002g0164a0001c0003t0003g0106others(57): Show | 60 | 182 | 0.3297 | 2 | c.535 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 10/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72752447 | A | AAC | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01070.hp2 others(24): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(13): Show | a0001c0001t0002g0147a0001c0001t0003g0001a0001c0001t0014g0080others(24): Show | 27 | 182 | 0.1484 | 2 | c.642 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72753286 | C | CTT | intron_variant | MODIFIER | HG00323.hp2 HG00609.hp2 HG00621.hp1 others(58): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0012a0001c0003t0001others(10): Show | a0001c0001t0002g0163a0001c0001t0002g0164a0001c0001t0002g0177others(58): Show | 61 | 182 | 0.3352 | 2 | c.642 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72755071 | G | GGA | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01071.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0021others(6): Show | a0001c0001t0002g0142a0001c0001t0002g0163a0001c0001t0002g0164others(43): Show | 46 | 182 | 0.2528 | 2 | c.741 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72770385 | T | TTA | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp2 HG01070.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0003t0003others(7): Show | a0001c0001t0003g0001a0001c0003t0001g0072a0001c0003t0001g0073others(17): Show | 20 | 182 | 0.1099 | 2 | c.742 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72783153 | G | GAT | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0097a0001c0003t0006g0098 | 2 | 182 | 0.0110 | 2 | c.885 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72787642 | C | CAT | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01099.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0003t0001others(7): Show | a0001c0001t0002g0130a0001c0001t0006g0099a0001c0003t0001g0007others(17): Show | 20 | 182 | 0.1099 | 2 | c.885 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72814896 | T | TTG | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00733.hp2 others(49): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0002g0122a0001c0001t0002g0123a0001c0001t0002g0124others(49): Show | 52 | 182 | 0.2857 | 2 | c.169 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72821502 | C | CAA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02922.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0033a0001c0003t0037 | a0001c0003t0009g0013a0001c0003t0009g0016a0001c0003t0009g0017others(3): Show | 6 | 182 | 0.0330 | 2 | c.200 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72822514 | T | TTG | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00735.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(11): Show | a0001c0001t0002g0128a0001c0001t0002g0132a0001c0001t0002g0136others(28): Show | 31 | 182 | 0.1703 | 2 | c.200 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72828420 | A | AAC | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG02027.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0034a0001c0003t0009others(5): Show | a0001c0001t0002g0137a0001c0001t0002g0142a0001c0001t0002g0147others(11): Show | 14 | 182 | 0.0769 | 2 | c.212 others(21): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72830738 | C | CTT | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01167.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0012a0001c0001t0016a0001c0001t0031others(3): Show | a0001c0001t0012g0103a0001c0001t0012g0104a0001c0001t0012g0105others(6): Show | 9 | 182 | 0.0495 | 2 | c.226 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72835359 | T | TCC | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01099.hp2 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0008a0001c0004t0010a0001c0005t0010 | a0001c0004t0008g0004a0001c0004t0008g0009a0001c0004t0008g0010others(4): Show | 7 | 182 | 0.0385 | 2 | c.226 others(19): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 23/23 | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72835897 | T | TTC | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01167.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0012a0001c0001t0016a0001c0001t0031others(4): Show | a0001c0001t0012g0103a0001c0001t0012g0104a0001c0001t0012g0105others(7): Show | 10 | 182 | 0.0550 | 2 | c.226 others(17): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMC1_chr9_72516608_72843297 | 72839572 | G | GTA | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02280.hp2 HG03098.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0031a0001c0003t0024a0001c0003t0035 | a0001c0001t0031g0155a0001c0003t0024g0030a0001c0003t0035g0008 | 3 | 182 | 0.0165 | 2 | c.*35 others(13): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1276 | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2539990 | C | CTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00673.hp2 others(101): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 104 | 344 | 0.3023 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2540656 | C | CAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0003a0001c0005others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(50): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(171): Show | 174 | 344 | 0.5058 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2542698 | A | ATT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(36): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0206a0001c0001t0006g0268others(35): Show | 39 | 344 | 0.1134 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2543903 | G | GAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(112): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(112): Show | 115 | 344 | 0.3343 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2544068 | A | ATT | intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 HG03831.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(2): Show | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(3): Show | a0001c0001t0001g0328a0001c0001t0009g0338a0002c0002t0001g0303others(3): Show | 6 | 344 | 0.0174 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2545906 | A | AAG | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00673.hp2 others(114): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0005others(26): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(114): Show | 117 | 344 | 0.3401 | 2 | c.82+ others(17): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2564150 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(31): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0010a0001c0013others(12): Show | a0001c0001t0004a0001c0010t0002a0001c0013t0004others(21): Show | a0001c0001t0004g0037a0001c0010t0002g0171a0001c0013t0004g0063others(31): Show | 34 | 344 | 0.0988 | 2 | c.554 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2572156 | C | CTT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(33): Show |
a0003a0007a0008others(4): Show | a0003c0007a0003c0011a0003c0014others(11): Show | a0003c0007t0001a0003c0007t0003a0003c0007t0004others(20): Show | a0003c0007t0001g0176a0003c0007t0001g0193a0003c0007t0001g0194others(33): Show | 36 | 344 | 0.1047 | 2 | c.555 others(14): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2577639 | T | TGC | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02451.hp2 others(8): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0013a0003c0007others(5): Show | a0001c0001t0006a0001c0001t0010a0001c0013t0004others(6): Show | a0001c0001t0006g0055a0001c0001t0006g0083a0001c0001t0010g0170others(8): Show | 11 | 344 | 0.0320 | 2 | c.646 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2577640 | G | GCA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(27): Show |
a0003a0007a0008others(2): Show | a0003c0007a0003c0011a0003c0014others(9): Show | a0003c0007t0001a0003c0007t0003a0003c0007t0004others(16): Show | a0003c0007t0001g0176a0003c0007t0001g0193a0003c0007t0001g0194others(27): Show | 30 | 344 | 0.0872 | 2 | c.646 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 5/19 | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2584790 | C | CTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp2 others(7): Show |
a0001a0018a0019 | a0001c0001a0001c0010a0018c0036others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0206a0001c0001t0004g0037others(6): Show | 10 | 344 | 0.0291 | 2 | c.834 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTG | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(13): Show | a0001c0001t0004a0001c0005t0002a0002c0002t0001others(20): Show | a0001c0001t0004g0286a0001c0005t0002g0283a0002c0002t0001g0070others(36): Show | 39 | 344 | 0.1134 | 2 | c.835 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2589269 | C | CGT | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG02135.hp2 |
a0001a0002 | a0001c0003a0001c0005a0002c0008 | a0001c0003t0003a0001c0005t0024a0002c0008t0027 | a0001c0003t0003g0260a0001c0005t0024g0212a0002c0008t0027g0111 | 3 | 344 | 0.0087 | 2 | c.835 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTG | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp2 others(28): Show |
a0001a0002a0022 | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0258a0001c0005t0002g0228a0002c0002t0001g0007others(28): Show | 31 | 344 | 0.0901 | 2 | c.835 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2596710 | A | AAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(66): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0005a0001c0010others(15): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(25): Show | a0001c0003t0001g0231a0001c0003t0001g0311a0001c0003t0003g0017others(66): Show | 69 | 344 | 0.2006 | 2 | c.107 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2596717 | A | ATG | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp2 others(155): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(154): Show | 158 | 344 | 0.4593 | 2 | c.107 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2598197 | G | GAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(140): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0010others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(139): Show | 143 | 344 | 0.4157 | 2 | c.122 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2599295 | T | TAA | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01069.hp1 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0018others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0015others(85): Show | 89 | 344 | 0.2587 | 2 | c.122 others(21): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2606891 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG02559.hp2 HG02723.hp2 others(3): Show |
a0002a0011a0016 | a0002c0002a0002c0004a0011c0042others(2): Show | a0002c0002t0010a0002c0004t0002a0011c0042t0001others(2): Show | a0002c0002t0010g0064a0002c0004t0002g0133a0002c0004t0002g0321others(3): Show | 6 | 344 | 0.0174 | 2 | c.141 others(21): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2616535 | A | AAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(91): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0013others(23): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(38): Show | a0001c0001t0003g0313a0001c0001t0004g0037a0001c0001t0004g0040others(91): Show | 94 | 344 | 0.2733 | 2 | c.194 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2631705 | G | GTT | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01081.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0010others(12): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0020others(20): Show | a0001c0001t0005g0229a0001c0001t0006g0055a0001c0001t0006g0083others(43): Show | 46 | 344 | 0.1337 | 2 | c.230 others(21): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TAC | intron_variant | MODIFIER | HG01074.hp1 HG01258.hp1 HG02145.hp2 others(7): Show |
a0001a0003a0008others(3): Show | a0001c0001a0001c0003a0003c0014others(4): Show | a0001c0001t0001a0001c0003t0007a0003c0014t0002others(5): Show | a0001c0001t0001g0227a0001c0001t0001g0329a0001c0003t0007g0236others(7): Show | 10 | 344 | 0.0291 | 2 | c.238 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TMC2_chr20_2531573_2648580 | 2637215 | C | CCT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(259): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0003a0001c0013others(32): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(68): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(258): Show | 262 | 344 | 0.7616 | 2 | c.238 others(19): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | chr20 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81345016 | G | GGA | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG02004.hp1 HG02572.hp2 others(5): Show |
a0001a0002a0008others(1): Show | a0001c0028a0002c0002a0008c0007others(1): Show | a0001c0028t0002a0002c0002t0008a0008c0007t0004others(1): Show | a0001c0028t0002g0104a0002c0002t0008g0103a0002c0002t0008g0113others(5): Show | 8 | 390 | 0.0205 | 2 | c.127 others(15): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 12/21 | chr15 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81348773 | G | GAC | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01123.hp2 others(65): Show |
a0001a0003a0011others(2): Show | a0001c0006a0003c0003a0003c0018others(3): Show | a0001c0006t0002a0001c0006t0006a0003c0003t0003others(8): Show | a0001c0006t0002g0179a0001c0006t0002g0180a0001c0006t0002g0184others(51): Show | 68 | 390 | 0.1744 | 2 | c.119 others(19): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 11/21 | chr15 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81350084 | C | CAA | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02486.hp2 others(3): Show |
a0002a0010 | a0002c0002a0010c0016 | a0002c0002t0002a0010c0016t0007 | a0002c0002t0002g0074a0002c0002t0002g0080a0002c0002t0002g0081others(3): Show | 6 | 390 | 0.0154 | 2 | c.108 others(19): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 10/21 | chr15 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81353248 | C | CAA | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01123.hp2 others(63): Show |
a0001a0003a0011others(2): Show | a0001c0006a0003c0003a0003c0018others(3): Show | a0001c0006t0002a0001c0006t0006a0003c0003t0003others(8): Show | a0001c0006t0002g0179a0001c0006t0002g0180a0001c0006t0002g0184others(49): Show | 66 | 390 | 0.1692 | 2 | c.936 others(19): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 9/21 | chr15 | TogoVar |