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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM2D1_chr1_61676046_61730141 | 61691933 | ATATAT | A | intron_variant | MODIFIER | HG00738.hp2 HG01192.hp1 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 others(7): Show |
10 | 329 | 0.0304 | -5 | c.513 others(22): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TM2D1_chr1_61676046_61730141 | 61715645 | CAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01261.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 others(20): Show |
25 | 148 | 0.1689 | -5 | c.239 others(22): Show |
TM2D1 | ENSG00000162604.13 | transcript | ENST00000606498.5 | protein_coding | 2/6 | chr1 | TogoVar | |||||||
TM4SF18_chr3_149313498_149338636 | 149315712 | CCTTAA | C | downstream_gene_variant | MODIFIER | NA18985.hp2 NA18992.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 440 | 0.0068 | -5 | c.*57 others(16): Show |
TM4SF18 | ENSG00000163762.7 | transcript | ENST00000296059.7 | protein_coding | 2785 | chr3 | TogoVar | |||||||
TM4SF19_chr3_196318547_196343388 | 196340854 | CTTATT | C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01192.hp1 HG01928.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 a0002c0002t0001g0052 a0002c0002t0001g0054 others(2): Show |
5 | 12 | 0.4167 | -5 | c.-25 others(16): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 2467 | chr3 | TogoVar | |||||||
TM4SF4_chr3_149469697_149508394 | 149506918 | GAAAGA | G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 NA20752.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0214 a0001c0002t0003g0017 |
3 | 418 | 0.0072 | -5 | c.*42 others(16): Show |
TM4SF4 | ENSG00000169903.7 | transcript | ENST00000305354.5 | protein_coding | 3525 | chr3 | TogoVar | |||||||
TM4SF5_chr17_4766886_4788211 | 4785068 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(229): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(78): Show |
232 | 233 | 0.9957 | -5 | c.*19 others(16): Show |
TM4SF5 | ENSG00000142484.7 | transcript | ENST00000270560.4 | protein_coding | 1858 | chr17 | TogoVar | |||||||
TM6SF2_chr19_19259366_19278301 | 19275174 | TCTTTG | T | upstream_gene_variant | MODIFIER | HG02976.hp1 HG03209.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show |
4 | 394 | 0.0102 | -5 | c.-19 others(16): Show |
TM6SF2 | ENSG00000213996.13 | transcript | ENST00000389363.5 | protein_coding | 1874 | chr19 | TogoVar | |||||||
TM7SF3_chr12_26966579_27019384 | 26968709 | ATAACT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(71): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0007 a0001c0001t0002g0031 a0001c0001t0002g0032 others(63): Show |
74 | 428 | 0.1729 | -5 | c.*52 others(16): Show |
TM7SF3 | ENSG00000064115.11 | transcript | ENST00000343028.9 | protein_coding | 2869 | chr12 | TogoVar | |||||||
TM9SF3_chr10_96513110_96592012 | 96551090 | TATTTA | T | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 a0001c0001t0011g0045 a0001c0001t0011g0046 |
3 | 346 | 0.0087 | -5 | c.959 others(20): Show |
TM9SF3 | ENSG00000077147.16 | transcript | ENST00000371142.9 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32106475 | ATAGAT | A | upstream_gene_variant | MODIFIER | HG01361.hp1 HG02055.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0274 a0001c0001t0003g0280 others(4): Show |
8 | 296 | 0.0270 | -5 | c.-32 others(16): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 3238 | chr20 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32116862 | CTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02056.hp1 HG02738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(9): Show |
12 | 95 | 0.1263 | -5 | c.15+ others(20): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163245 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0014a0001c0003t0009 | a0001c0001t0006g0011 a0001c0001t0006g0058 a0001c0001t0006g0059 others(6): Show |
9 | 271 | 0.0332 | -5 | c.177 others(24): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMA16_chr4_163489690_163525539 | 163494170 | AGGGGC | A | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0007 | a0001c0001t0011g0145 a0002c0002t0007g0015 a0002c0002t0007g0044 others(1): Show |
7 | 420 | 0.0167 | -5 | c.-63 others(14): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 519 | chr4 | TogoVar | |||||||
TMA16_chr4_163489690_163525539 | 163494181 | GGGGCA | G | upstream_gene_variant | MODIFIER | HG02129.hp1 HG02922.hp2 HG02965.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0023 a0001c0001t0001g0037 a0001c0001t0001g0141 others(3): Show |
11 | 278 | 0.0396 | -5 | c.-62 others(14): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 508 | chr4 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49760111 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01192.hp2 others(37): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0002a0001c0002t0009a0001c0002t0012others(5): Show | a0001c0002t0002g0004 a0001c0002t0002g0037 a0001c0002t0002g0039 others(25): Show |
40 | 268 | 0.1493 | -5 | c.614 others(20): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72532541 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01261.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(1): Show | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 others(11): Show |
14 | 17 | 0.8235 | -5 | c.-42 others(26): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72538394 | CTTGTA | C | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0034a0001c0003t0003a0001c0003t0037 | a0001c0001t0034g0093 a0001c0003t0003g0106 a0001c0003t0003g0107 others(1): Show |
4 | 66 | 0.0606 | -5 | c.-42 others(26): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72555973 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00735.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0179 a0001c0001t0003g0001 a0001c0001t0004g0004 others(33): Show |
36 | 75 | 0.4800 | -5 | c.-42 others(26): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72666886 | CCAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 others(80): Show |
83 | 95 | 0.8737 | -5 | c.16+ others(22): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2540056 | TCTCAG | T | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0001a0003a0010others(2): Show | a0001c0001a0001c0005a0003c0011others(3): Show | a0001c0001t0004a0001c0005t0002a0003c0011t0001others(3): Show | a0001c0001t0004g0286 a0001c0005t0002g0283 a0003c0011t0001g0289 others(4): Show |
7 | 342 | 0.0205 | -5 | c.82+ others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2548582 | GAGCCA | G | intron_variant | MODIFIER | HG00673.hp1 HG01243.hp1 HG02056.hp1 others(19): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0005a0001c0019others(6): Show | a0001c0001t0001a0001c0005t0002a0001c0019t0002others(8): Show | a0001c0001t0001g0254 a0001c0005t0002g0270 a0001c0019t0002g0269 others(19): Show |
22 | 342 | 0.0643 | -5 | c.83- others(20): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2575431 | TATGAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(30): Show |
a0001a0003a0008others(4): Show | a0001c0013a0003c0007a0003c0011others(12): Show | a0001c0013t0004a0003c0007t0001a0003c0007t0003others(18): Show | a0001c0013t0004g0057 a0003c0007t0001g0176 a0003c0007t0001g0235 others(30): Show |
33 | 342 | 0.0965 | -5 | c.645 others(22): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 5/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2576908 | TTTTTG | T | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp1 HG02572.hp2 others(5): Show |
a0003a0008a0025 | a0003c0014a0003c0015a0003c0022others(2): Show | a0003c0014t0002a0003c0015t0002a0003c0015t0007others(3): Show | a0003c0014t0002g0279 a0003c0015t0002g0166 a0003c0015t0007g0157 others(5): Show |
8 | 342 | 0.0234 | -5 | c.646 others(22): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2606886 | TTTTTC | T | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01261.hp2 others(7): Show |
a0001a0003a0012others(2): Show | a0001c0003a0001c0010a0003c0015others(3): Show | a0001c0003t0003a0001c0010t0007a0003c0015t0007others(3): Show | a0001c0003t0003g0095 a0001c0003t0003g0259 a0001c0003t0003g0260 others(7): Show |
10 | 342 | 0.0292 | -5 | c.141 others(24): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81350485 | GATAAA | G | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG01123.hp2 others(65): Show |
a0001a0003a0011others(2): Show | a0001c0006a0003c0003a0003c0018others(3): Show | a0001c0006t0002a0001c0006t0006a0003c0003t0003others(8): Show | a0001c0006t0002g0177 a0001c0006t0002g0178 a0001c0006t0002g0182 others(51): Show |
68 | 388 | 0.1753 | -5 | c.108 others(22): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 10/21 | chr15 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54163304 | CTTTCT | C | intron_variant | MODIFIER | HG02970.hp2 HG03492.hp2 HG03942.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0026a0004c0004others(1): Show | a0001c0001t0001a0003c0026t0002a0004c0004t0002others(1): Show | a0001c0001t0001g0121 a0001c0001t0001g0134 a0001c0001t0001g0154 others(6): Show |
9 | 405 | 0.0222 | -5 | c.127 others(22): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 8/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168779 | CTTTCT | C | intron_variant | MODIFIER | HG01167.hp1 HG01358.hp2 HG02165.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0075 a0001c0001t0001g0095 others(1): Show |
4 | 388 | 0.0103 | -5 | c.443 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168793 | CTTTCT | C | intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG00741.hp1 others(10): Show |
a0002a0004a0007 | a0002c0002a0002c0011a0004c0004others(1): Show | a0002c0002t0002a0002c0011t0002a0004c0004t0002others(1): Show | a0002c0002t0002g0285 a0002c0002t0002g0286 a0002c0002t0002g0291 others(10): Show |
13 | 220 | 0.0591 | -5 | c.443 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54168914 | TCCTTC | T | intron_variant | MODIFIER | HG02622.hp2 NA18992.hp2 NA19009.hp1 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0002a0005c0006t0002 | a0001c0001t0001g0231 a0002c0002t0002g0268 a0005c0006t0002g0382 |
3 | 357 | 0.0084 | -5 | c.443 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54169008 | ATATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00741.hp2 others(56): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0003c0005others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0005t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0045 others(55): Show |
59 | 393 | 0.1501 | -5 | c.443 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54170607 | GTTTGT | G | intron_variant | MODIFIER | HG00423.hp2 HG00733.hp2 HG01168.hp2 others(38): Show |
a0002a0004a0007others(1): Show | a0002c0011a0004c0004a0007c0008others(1): Show | a0002c0011t0002a0004c0004t0002a0007c0008t0002others(1): Show | a0002c0011t0002g0334 a0004c0004t0002g0014 a0004c0004t0002g0015 others(35): Show |
41 | 406 | 0.1010 | -5 | c.294 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54170611 | GTTTTA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(258): Show |
a0001a0003a0006others(8): Show | a0001c0001a0001c0012a0003c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0012t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(249): Show |
261 | 406 | 0.6429 | -5 | c.294 others(20): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 2/14 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19434390 | GATATA | G | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00609.hp2 others(129): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 others(129): Show |
132 | 203 | 0.6502 | -5 | c.-80 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19470721 | TAAAAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(55): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0002c0015others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0175 a0001c0001t0002g0032 a0001c0001t0002g0065 others(55): Show |
58 | 77 | 0.7532 | -5 | c.178 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19483779 | AAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(183): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0009others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0111 others(183): Show |
186 | 334 | 0.5569 | -5 | c.236 others(24): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19496887 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(56): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0257 a0001c0001t0002g0007 a0001c0001t0002g0032 others(56): Show |
59 | 106 | 0.5566 | -5 | c.293 others(22): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19501299 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01975.hp1 HG02300.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0002c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0130 a0001c0001t0011g0017 others(3): Show |
6 | 59 | 0.1017 | -5 | c.*33 others(16): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2187 | chr16 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19502374 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(193): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0005a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(193): Show |
196 | 242 | 0.8099 | -5 | c.*44 others(16): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 3262 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19012788 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02300.hp2 others(23): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0114 a0001c0001t0001g0182 a0001c0001t0001g0183 others(23): Show |
26 | 36 | 0.7222 | -5 | c.311 others(22): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMCC1_chr3_129642792_129898711 | 129705605 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0015 | a0001c0002t0005g0181 a0001c0002t0005g0182 a0001c0002t0005g0183 others(4): Show |
7 | 247 | 0.0283 | -5 | c.577 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129726868 | CAAAAA | C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0002t0005a0001c0002t0008others(1): Show | a0001c0001t0013g0191 a0001c0002t0005g0169 a0001c0002t0005g0170 others(8): Show |
11 | 44 | 0.2500 | -5 | c.577 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129770602 | TAAATG | T | intron_variant | MODIFIER | HG02970.hp1 HG03209.hp2 HG03225.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0027a0002c0003t0012others(2): Show | a0001c0001t0001g0063 a0001c0001t0027g0258 a0002c0003t0012g0034 others(4): Show |
7 | 244 | 0.0287 | -5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129770632 | GAAATA | G | intron_variant | MODIFIER | HG02083.hp1 HG02602.hp2 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0060 a0001c0001t0001g0087 a0001c0001t0001g0091 others(2): Show |
5 | 158 | 0.0316 | -5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129798524 | CAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0201 a0001c0001t0004g0246 a0001c0001t0004g0247 others(3): Show |
6 | 102 | 0.0588 | -5 | c.576 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129823326 | CAAACA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0033 others(207): Show |
210 | 256 | 0.8203 | -5 | c.576 others(22): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129883839 | CTATTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01255.hp2 HG01346.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 others(21): Show |
24 | 256 | 0.0938 | -5 | c.-43 others(24): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
TMCC2_chr1_205222946_205278343 | 205229152 | TTTGTG | T | intron_variant | MODIFIER | HG01361.hp2 NA18948.hp2 NA19089.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0007t0001g0033 |
3 | 368 | 0.0082 | -5 | c.207 others(20): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCC2_chr1_205222946_205278343 | 205232934 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0162 others(3): Show |
6 | 51 | 0.1176 | -5 | c.207 others(22): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCC2_chr1_205222946_205278343 | 205253218 | GAAAAT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0116 a0001c0001t0001g0117 others(12): Show |
16 | 370 | 0.0432 | -5 | c.747 others(24): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCC2_chr1_205222946_205278343 | 205278187 | GTGGCC | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp1 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0065 others(59): Show |
68 | 370 | 0.1838 | -5 | c.*60 others(16): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 4845 | chr1 | TogoVar |