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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM9SF2_chr13_99496472_99569048 | 99508443 | A | ACACACAC others(7): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 321 | 0.0031 | 14 | c.171 others(31): Show |
TM9SF2 | ENSG00000125304.10 | transcript | ENST00000376387.5 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123192 | A | AGGGGGAG others(7): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 | 1 | 225 | 0.0044 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123198 | A | AGGGGGAG others(7): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0207 | 1 | 259 | 0.0039 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123198 | A | AGGGGGGA others(7): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 259 | 0.0039 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123211 | A | AGGGGGGA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0172 a0001c0001t0002g0180 |
2 | 255 | 0.0078 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123218 | A | AGGGGGAG others(7): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 257 | 0.0039 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 a0001c0001t0001g0206 |
2 | 52 | 0.0385 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32123866 | A | ATATATTT others(7): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 51 | 0.0196 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32126068 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0014 a0001c0001t0001g0110 a0001c0001t0003g0279 others(1): Show |
4 | 89 | 0.0449 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32126106 | C | CACACACA others(7): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0051 a0001c0001t0010g0042 |
2 | 254 | 0.0079 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32128790 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01358.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0011a0002c0006t0001 | a0001c0001t0001g0009 a0001c0001t0001g0025 a0001c0001t0001g0026 others(21): Show |
24 | 45 | 0.5333 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32131481 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 59 | 0.0169 | 14 | c.16- others(29): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAATATA others(7): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 233 | 0.0043 | 14 | c.177 others(33): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 233 | 0.0043 | 14 | c.177 others(33): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMA16_chr4_163489690_163525539 | 163494181 | G | GGGCAGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 268 | 0.0037 | 14 | c.-62 others(23): Show |
TMA16 | ENSG00000198498.10 | transcript | ENST00000358572.10 | protein_coding | 508 | chr4 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0003a0007 | a0001c0002a0001c0009a0003c0015others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(6): Show | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0010 others(51): Show |
125 | 299 | 0.4181 | 14 | c.202 others(29): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49745724 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0044 a0001c0002t0006g0181 |
3 | 258 | 0.0116 | 14 | c.-31 others(31): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATAGAGA others(7): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0012 | 1 | 41 | 0.0244 | 14 | c.-30 others(33): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATATAGA others(7): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0017 | 1 | 41 | 0.0244 | 14 | c.-30 others(33): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72607002 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0013 a0001c0003t0009g0016 |
2 | 42 | 0.0476 | 14 | c.-30 others(33): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683731 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0037 a0002c0002t0001g0043 |
2 | 98 | 0.0204 | 14 | c.17- others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683733 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01993.hp1 HG02129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0146 a0001c0001t0002g0154 a0001c0001t0002g0179 others(1): Show |
4 | 51 | 0.0784 | 14 | c.17- others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72700713 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 103 | 0.0097 | 14 | c.362 others(28): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72700743 | T | TATATATA others(7): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0097 a0001c0003t0006g0098 |
2 | 132 | 0.0152 | 14 | c.362 others(29): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2588691 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG02056.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(10): Show | a0001c0001t0001g0337 a0001c0001t0006g0085 a0001c0001t0008g0322 others(14): Show |
17 | 126 | 0.1349 | 14 | c.835 others(31): 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(7): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02004.hp2 HG02027.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0003a0002c0002t0001 | a0001c0001t0001g0330 a0001c0003t0003g0175 a0001c0003t0003g0216 others(2): Show |
5 | 254 | 0.0197 | 14 | c.835 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02300.hp2 HG02723.hp1 others(14): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0008others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0015 a0001c0001t0001g0254 a0001c0001t0004g0031 others(14): Show |
17 | 32 | 0.5313 | 14 | c.835 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTTTGTGT others(7): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0022 | a0003c0022t0001 | a0003c0022t0001g0056 | 1 | 16 | 0.0625 | 14 | c.835 others(31): 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(7): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0193 | 1 | 250 | 0.0040 | 14 | c.934 others(29): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(7): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 | 1 | 37 | 0.0270 | 14 | c.238 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC3_chr15_81326088_81379213 | 81372349 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG02886.hp2 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0073 a0002c0002t0002g0129 |
2 | 29 | 0.0690 | 14 | c.236 others(29): Show |
TMC3 | ENSG00000188869.13 | transcript | ENST00000359440.6 | protein_coding | 2/21 | chr15 | TogoVar | |||||||
TMC5_chr16_19412883_19504113 | 19436273 | G | GAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01175.hp1 others(23): Show |
a0001a0002a0009 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0315 a0001c0001t0002g0275 a0001c0001t0003g0116 others(23): Show |
26 | 80 | 0.3250 | 14 | c.-79 others(31): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GAGATATA others(7): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0278 | 1 | 170 | 0.0059 | 14 | c.282 others(31): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATAGATA others(7): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 170 | 0.0059 | 14 | c.282 others(31): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01433.hp1 others(4): Show |
a0001a0007a0008others(1): Show | a0001c0001a0007c0010a0008c0018others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(3): Show | a0001c0001t0001g0242 a0001c0001t0001g0262 a0001c0001t0004g0240 others(4): Show |
7 | 176 | 0.0398 | 14 | c.282 others(31): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19500275 | C | CCATCTAG others(7): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0014 | a0003c0014t0023 | a0003c0014t0023g0010 | 1 | 334 | 0.0030 | 14 | c.*23 others(25): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 1163 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064341 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 274 | 0.0036 | 14 | c.*24 others(25): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 400 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064343 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG03139.hp2 NA20300.hp1 |
a0001a0006 | a0001c0001a0006c0016 | a0001c0001t0001a0006c0016t0001 | a0001c0001t0001g0214 a0001c0001t0001g0256 a0006c0016t0001g0257 |
3 | 225 | 0.0133 | 14 | c.*25 others(25): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 402 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064345 | C | CTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 HG02109.hp2 HG02486.hp1 others(4): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0010a0008c0010t0001 | a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0231 others(4): Show |
7 | 193 | 0.0363 | 14 | c.*25 others(25): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 404 | chr16 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129726868 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00609.hp1 others(29): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0033 a0001c0001t0001g0039 a0001c0001t0001g0057 others(29): Show |
32 | 65 | 0.4923 | 14 | c.577 others(33): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129726893 | A | AAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 | 1 | 255 | 0.0039 | 14 | c.577 others(33): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129760454 | C | CTGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 14 | 0.0714 | 14 | c.576 others(33): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129870718 | C | CGGGGGGG others(7): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0190 a0001c0001t0019g0020 |
2 | 26 | 0.0769 | 14 | c.-18 others(33): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94592661 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02083.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0001a0001c0002t0032a0001c0002t0033others(2): Show | a0001c0002t0001g0103 a0001c0002t0032g0249 a0001c0002t0033g0319 others(2): Show |
5 | 109 | 0.0459 | 14 | c.79- others(31): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94597120 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01346.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0002t0063a0001c0003t0001others(2): Show | a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0002t0063g0313 others(4): Show |
7 | 145 | 0.0483 | 14 | c.79- others(31): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94652799 | G | GGTGTGTG others(7): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0011a0001c0004t0004a0001c0004t0021others(1): Show | a0001c0003t0011g0357 a0001c0003t0011g0358 a0001c0004t0004g0361 others(2): Show |
5 | 192 | 0.0260 | 14 | c.-23 others(25): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 2243 | chr12 | TogoVar | |||||||
TMCO1_chr1_165721795_165773868 | 165746453 | T | TCACACAC others(7): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(32): Show |
35 | 79 | 0.4430 | 14 | c.324 others(31): Show |
TMCO1 | ENSG00000143183.18 | transcript | ENST00000367881.11 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
TMCO2_chr1_40242937_40256684 | 40249255 | A | ATGTGTGT others(7): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 99 | 0.0101 | 14 | c.237 others(31): Show |
TMCO2 | ENSG00000188800.6 | transcript | ENST00000372766.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113506558 | A | AGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0224 | 1 | 282 | 0.0035 | 14 | c.103 others(33): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO4_chr1_19677240_19804916 | 19718650 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18963.hp1 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0002a0003c0008t0002 | a0001c0002t0002g0153 a0003c0008t0002g0311 |
2 | 48 | 0.0417 | 14 | c.126 others(35): Show |
TMCO4 | ENSG00000162542.14 | transcript | ENST00000294543.11 | protein_coding | 13/15 | chr1 | TogoVar |