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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMC2_chr20_2531573_2648580 | 2553538 | T | TGTTTTGT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0003a0001c0005others(46): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(79): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(234): Show |
238 | 344 | 0.6919 | 12 | c.83- others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01258.hp1 HG02257.hp2 others(8): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0003t0003others(7): Show | a0001c0001t0001g0227 a0001c0001t0006g0268 a0001c0003t0003g0215 others(8): Show |
11 | 344 | 0.0320 | 12 | c.835 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589269 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01261.hp2 HG01884.hp1 others(3): Show |
a0001a0005a0014 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0003t0003a0001c0005t0002others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0213 a0001c0003t0003g0181 others(3): Show |
6 | 344 | 0.0174 | 12 | c.835 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01071.hp1 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0332 a0001c0001t0007g0275 others(6): Show |
10 | 344 | 0.0291 | 12 | c.835 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2594225 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00621.hp1 others(47): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0038a0001c0042others(7): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0005others(14): Show | a0001c0003t0001g0005 a0001c0003t0001g0231 a0001c0003t0001g0311 others(47): Show |
50 | 344 | 0.1454 | 12 | c.934 others(27): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2598394 | C | CTTTATTT others(5): Show |
intron_variant | MODIFIER | HG02735.hp1 HG04184.hp1 HG06807.hp2 others(7): Show |
a0001a0002a0005others(1): Show | a0001c0003a0002c0002a0005c0009others(1): Show | a0001c0003t0003a0002c0002t0001a0005c0009t0003others(1): Show | a0001c0003t0003g0301 a0001c0003t0003g0309 a0002c0002t0001g0277 others(7): Show |
10 | 344 | 0.0291 | 12 | c.122 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2608300 | T | TTTATTAT others(5): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0002c0002t0005a0004c0006t0001 | a0001c0001t0001g0099 a0002c0002t0005g0160 a0004c0006t0001g0207 |
3 | 344 | 0.0087 | 12 | c.141 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611829 | A | AATGGATG others(5): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0023 | a0023c0040 | a0023c0040t0001 | a0023c0040t0001g0253 | 1 | 344 | 0.0029 | 12 | c.159 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611886 | G | GTGGGTGG others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02895.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0004 | a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0298 others(1): Show |
4 | 344 | 0.0116 | 12 | c.159 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2632708 | G | GTAGCTGG others(5): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0030 |
3 | 344 | 0.0087 | 12 | c.230 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 17/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01099.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0007t0001others(1): Show | a0001c0001t0001g0206 a0002c0002t0001g0070 a0002c0002t0001g0205 others(6): Show |
9 | 344 | 0.0262 | 12 | c.238 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2647120 | T | TTTTATTT others(5): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG02615.hp1 NA18941.hp1 others(4): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0004a0002c0002t0001a0005c0009t0003others(2): Show | a0001c0001t0004g0286 a0002c0002t0001g0303 a0005c0009t0003g0148 others(4): Show |
7 | 344 | 0.0204 | 12 | c.*57 others(23): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 3541 | chr20 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372349 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | NA18974.hp2 NA18994.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0129 a0002c0002t0002g0130 |
2 | 390 | 0.0051 | 12 | c.236 others(27): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
TMC3_chr15_81326088_81379213 | 81372870 | C | CGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG02083.hp1 others(2): Show |
a0001a0025 | a0001c0001a0025c0036 | a0001c0001t0001a0001c0001t0006a0025c0036t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 others(2): Show |
5 | 390 | 0.0128 | 12 | c.90- others(25): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 1/21 | chr15 | TogoVar | |||||||
TMC4_chr19_54155108_54178160 | 54177151 | A | AAATACTA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(9): Show | a0001c0001t0001a0001c0012t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0069 others(76): Show |
80 | 407 | 0.1966 | 12 | c.-40 others(23): Show |
TMC4 | ENSG00000167608.12 | transcript | ENST00000619895.5 | protein_coding | 3992 | chr19 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19434463 | T | TATAGATA others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03654.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0136 a0001c0001t0002g0144 a0001c0001t0003g0012 |
3 | 336 | 0.0089 | 12 | c.-80 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19434499 | G | GATAGATA others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01257.hp1 others(10): Show |
a0001a0019 | a0001c0001a0019c0026 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0162 a0001c0001t0002g0165 others(10): Show |
13 | 336 | 0.0387 | 12 | c.-80 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19436273 | G | GAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG01069.hp2 others(41): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0001g0265 others(41): Show |
44 | 336 | 0.1310 | 12 | c.-79 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19438406 | A | AAAAAAAG others(5): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01081.hp1 HG02559.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0025 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0117 a0001c0001t0003g0012 a0001c0001t0004g0046 others(5): Show |
8 | 336 | 0.0238 | 12 | c.-79 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19438435 | G | GAGAAAGA others(5): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp1 HG01175.hp1 others(30): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0300 a0001c0001t0001g0310 a0001c0001t0001g0315 others(30): Show |
33 | 336 | 0.0982 | 12 | c.-79 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19443996 | A | AATGGATG others(5): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02145.hp1 others(29): Show |
a0001a0005a0013others(1): Show | a0001c0001a0005c0004a0013c0022others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0004g0126 a0001c0001t0004g0142 a0001c0001t0004g0220 others(29): Show |
32 | 336 | 0.0952 | 12 | c.789 others(25): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19448191 | T | TGCAGTTT others(5): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp2 others(20): Show |
a0001a0010 | a0001c0001a0001c0009a0010c0027 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0003g0012 others(20): Show |
23 | 336 | 0.0685 | 12 | c.959 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 4/21 | chr16 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19473345 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02257.hp1 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0013a0001c0001t0017others(1): Show | a0001c0001t0004g0018 a0001c0001t0013g0114 a0001c0001t0017g0123 others(1): Show |
4 | 336 | 0.0119 | 12 | c.193 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19487701 | C | CAATAAAT others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02818.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0288 a0001c0001t0001g0292 a0001c0001t0002g0171 |
3 | 336 | 0.0089 | 12 | c.257 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490711 | T | TTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01099.hp2 HG01993.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0175 others(16): Show |
19 | 336 | 0.0566 | 12 | c.274 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490769 | T | TTCTTTCC others(5): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0088 | 1 | 336 | 0.0030 | 12 | c.274 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATATATA others(5): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03139.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0300 a0001c0001t0004g0067 a0001c0001t0004g0115 others(1): Show |
4 | 336 | 0.0119 | 12 | c.282 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19493463 | C | CTCTCTCT others(5): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01358.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0015a0003c0003t0015 | a0001c0001t0015g0039 a0003c0003t0015g0282 a0003c0003t0015g0317 |
3 | 336 | 0.0089 | 12 | c.282 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19495011 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19240.hp1 |
a0005 | a0005c0004 | a0005c0004t0013 | a0005c0004t0013g0098 a0005c0004t0013g0293 |
2 | 336 | 0.0060 | 12 | c.293 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 18983998 | A | AGGCGGCG others(5): Show |
5_prime_UTR_variant | MODIFIER | HG02572.hp2 | a0005 | a0005c0007 | a0005c0007t0021 | a0005c0007t0021g0203 | 1 | 282 | 0.0036 | 12 | c.-56 others(19): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 1/16 | 44 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TMC7_chr16_18978934_19068942 | 19011506 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02970.hp2 HG04228.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0002c0002t0002others(1): Show | a0001c0001t0001g0138 a0001c0001t0009g0236 a0002c0002t0002g0100 others(1): Show |
4 | 282 | 0.0142 | 12 | c.311 others(29): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19020853 | A | AAAATAAA others(5): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02602.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0237 a0002c0002t0002g0104 |
2 | 282 | 0.0071 | 12 | c.461 others(27): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19064343 | C | CTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 282 | 0.0036 | 12 | c.*25 others(23): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 402 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064345 | C | CTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG02258.hp2 HG02886.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0012 | a0001c0001t0010a0001c0001t0026a0004c0012t0032 | a0001c0001t0010g0210 a0001c0001t0010g0211 a0001c0001t0026g0208 others(1): Show |
4 | 282 | 0.0142 | 12 | c.*25 others(23): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 404 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064347 | C | CTGTGTGT others(5): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0142 | 1 | 282 | 0.0036 | 12 | c.*25 others(23): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 406 | chr16 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129720181 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0035 | 1 | 258 | 0.0039 | 12 | c.577 others(31): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129726868 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00597.hp2 others(28): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0047 a0001c0001t0001g0058 a0001c0001t0001g0066 others(28): Show |
31 | 258 | 0.1202 | 12 | c.577 others(31): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129760454 | C | CTGTGTGT others(5): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0004 | 1 | 258 | 0.0039 | 12 | c.576 others(31): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC2_chr1_205222946_205278343 | 205229545 | C | CGGGGGGG others(5): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 372 | 0.0027 | 12 | c.207 others(27): Show |
TMCC2 | ENSG00000133069.17 | transcript | ENST00000358024.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCC3_chr12_94562122_94655557 | 94578165 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG01109.hp2 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0010a0001c0004t0021a0001c0004t0023others(1): Show | a0001c0004t0010g0053 a0001c0004t0010g0092 a0001c0004t0021g0341 others(4): Show |
7 | 378 | 0.0185 | 12 | c.113 others(29): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 3/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94590260 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0027 | 1 | 378 | 0.0027 | 12 | c.79- others(27): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94592661 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02735.hp2 NA20300.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0010 | a0001c0003t0003g0337 a0001c0004t0010g0053 |
2 | 378 | 0.0053 | 12 | c.79- others(29): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94597120 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02165.hp2 HG02300.hp2 |
a0001a0006 | a0001c0001a0001c0003a0006c0025 | a0001c0001t0002a0001c0003t0057a0006c0025t0010 | a0001c0001t0002g0067 a0001c0003t0057g0297 a0006c0025t0010g0028 |
3 | 378 | 0.0079 | 12 | c.79- others(29): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94639668 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp1 others(7): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0001t0002g0059 a0001c0002t0003g0335 a0001c0002t0006g0227 others(7): Show |
10 | 378 | 0.0265 | 12 | c.78+ others(29): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94648220 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01884.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0002g0235 a0001c0003t0001g0032 others(8): Show |
11 | 378 | 0.0291 | 12 | c.78+ others(27): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94652799 | G | GGTGTGTG others(5): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 HG03516.hp2 HG03540.hp1 others(1): Show |
a0001a0004a0010 | a0001c0003a0004c0008a0010c0027 | a0001c0003t0011a0001c0003t0022a0004c0008t0035others(1): Show | a0001c0003t0011g0355 a0001c0003t0022g0007 a0004c0008t0035g0367 others(1): Show |
4 | 378 | 0.0106 | 12 | c.-23 others(23): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 2243 | chr12 | TogoVar | |||||||
TMCO1_chr1_165721795_165773868 | 165722914 | C | CAAAAAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 374 | 0.0027 | 12 | c.*51 others(23): Show |
TMCO1 | ENSG00000143183.18 | transcript | ENST00000367881.11 | protein_coding | 3880 | chr1 | TogoVar | |||||||
TMCO1_chr1_165721795_165773868 | 165746453 | T | TCACACAC others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(74): Show |
82 | 374 | 0.2193 | 12 | c.324 others(29): Show |
TMCO1 | ENSG00000143183.18 | transcript | ENST00000367881.11 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TMCO2_chr1_40242937_40256684 | 40249255 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp1 HG03130.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0018 a0001c0001t0001g0045 a0002c0002t0001g0018 |
9 | 426 | 0.0211 | 12 | c.237 others(29): Show |
TMCO2 | ENSG00000188800.6 | transcript | ENST00000372766.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCO2_chr1_40242937_40256684 | 40250318 | A | AAAATATA others(5): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 426 | 0.0024 | 12 | c.238 others(27): Show |
TMCO2 | ENSG00000188800.6 | transcript | ENST00000372766.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |