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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TM9SF4_chr20_32104714_32172256 | 32123203 | G | GAGGGGGG others(9): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 235 | 0.0043 | 16 | c.16- others(31): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | chr20 | TogoVar | |||||||
TM9SF4_chr20_32104714_32172256 | 32123226 | A | AGGGAGAG others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0016 others(45): Show |
49 | 233 | 0.2103 | 16 | c.16- others(31): 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(9): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02970.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 others(10): Show |
13 | 34 | 0.3824 | 16 | c.16- others(31): 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(9): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 a0001c0001t0006g0058 a0001c0001t0006g0059 others(2): Show |
5 | 63 | 0.0794 | 16 | c.16- others(31): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TM9SF4_chr20_32104714_32172256 | 32163268 | A | AAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0028 | 1 | 233 | 0.0043 | 16 | c.177 others(35): 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(9): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 233 | 0.0043 | 16 | c.177 others(35): Show |
TM9SF4 | ENSG00000101337.16 | transcript | ENST00000398022.7 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMBIM1_chr2_218269197_218297503 | 218281124 | T | TTTTTGTT others(9): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0034 | 2 | 354 | 0.0056 | 16 | c.202 others(31): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281130 | T | TTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19074.hp2 NA19089.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0019 | 3 | 177 | 0.0169 | 16 | c.202 others(31): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281139 | T | TGTTTTGT others(9): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0094 | 1 | 214 | 0.0047 | 16 | c.202 others(31): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM1_chr2_218269197_218297503 | 218281139 | T | TGTTTTGT others(9): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(134): Show |
a0002a0004a0005others(1): Show | a0002c0001a0002c0011a0002c0014others(3): Show | a0002c0001t0001a0002c0001t0010a0002c0001t0012others(8): Show | a0002c0001t0001g0001 a0002c0001t0001g0003 a0002c0001t0001g0012 others(54): Show |
137 | 350 | 0.3914 | 16 | c.202 others(31): Show |
TMBIM1 | ENSG00000135926.15 | transcript | ENST00000258412.8 | protein_coding | 2/11 | chr2 | TogoVar | |||||||
TMBIM6_chr12_49736557_49769934 | 49745724 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02080.hp1 HG02135.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0010others(4): Show | a0001c0001t0001g0069 a0001c0002t0003g0016 a0001c0002t0003g0041 others(11): Show |
17 | 272 | 0.0625 | 16 | c.-31 others(33): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMBIM6_chr12_49736557_49769934 | 49745735 | A | AAAAAACA others(9): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0061 | 1 | 263 | 0.0038 | 16 | c.-31 others(33): Show |
TMBIM6 | ENSG00000139644.13 | transcript | ENST00000267115.10 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72582023 | T | TCTCGGCT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0013 | a0001c0001t0014g0080 a0001c0003t0013g0081 a0001c0003t0013g0082 |
3 | 180 | 0.0167 | 16 | c.-30 others(35): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72609179 | C | CCCTTCCT others(9): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02896.hp2 HG03490.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0013a0002c0002t0001 | a0001c0003t0013g0081 a0002c0002t0001g0027 a0002c0002t0001g0064 others(1): Show |
4 | 26 | 0.1538 | 16 | c.-30 others(35): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72650872 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0180 | 1 | 166 | 0.0060 | 16 | c.16+ others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72683731 | T | TTATATAT others(9): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01928.hp1 HG01993.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0045 others(3): Show |
6 | 102 | 0.0588 | 16 | c.17- others(31): 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(9): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02074.hp1 NA18946.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0005 | a0001c0001t0002g0144 a0001c0001t0002g0170 a0001c0003t0005g0091 |
3 | 50 | 0.0600 | 16 | c.17- others(31): 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(9): Show |
intron_variant | MODIFIER | HG02258.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014 | a0001c0001t0006g0099 a0001c0001t0014g0080 |
2 | 104 | 0.0192 | 16 | c.362 others(30): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72725325 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 78 | 0.0128 | 16 | c.363 others(35): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72752447 | A | AACACACA others(9): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006 | a0001c0001t0006g0099 a0001c0003t0006g0097 a0001c0003t0006g0098 |
3 | 85 | 0.0353 | 16 | c.642 others(31): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72802242 | C | CATACATA others(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0090 | 1 | 180 | 0.0056 | 16 | c.156 others(35): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2545822 | G | GAAGAAAG others(9): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02965.hp1 HG03225.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0010a0002c0002a0002c0004others(5): Show | a0001c0010t0007a0002c0002t0001a0002c0004t0002others(5): Show | a0001c0010t0007g0036 a0002c0002t0001g0045 a0002c0002t0001g0046 others(11): Show |
14 | 133 | 0.1053 | 16 | c.82+ others(31): 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(9): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp1 others(10): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0334 a0001c0001t0004g0275 others(9): Show |
13 | 122 | 0.1066 | 16 | c.835 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG02165.hp1 |
a0001a0004 | a0001c0003a0001c0013a0004c0006 | a0001c0003t0001a0001c0013t0004a0004c0006t0001 | a0001c0003t0001g0007 a0001c0013t0004g0293 a0004c0006t0001g0256 |
3 | 252 | 0.0119 | 16 | c.835 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 7/19 | chr20 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2589270 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01361.hp2 HG02965.hp2 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0003t0003a0001c0005t0002others(9): Show | a0001c0001t0001g0186 a0001c0003t0003g0083 a0001c0005t0002g0149 others(12): Show |
15 | 30 | 0.5000 | 16 | c.835 others(33): 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(9): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03540.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0001c0013a0003c0007 | a0001c0001t0006a0001c0013t0004a0003c0007t0006 | a0001c0001t0006g0268 a0001c0013t0004g0057 a0003c0007t0006g0050 |
3 | 18 | 0.1667 | 16 | c.835 others(33): 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(9): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0289 | 1 | 250 | 0.0040 | 16 | c.934 others(31): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2611866 | A | ATGGATGG others(9): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0037 | a0001c0037t0010 | a0001c0037t0010g0272 | 1 | 323 | 0.0031 | 16 | c.159 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC2_chr20_2531573_2648580 | 2636459 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02155.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0218 a0004c0006t0001g0258 |
2 | 38 | 0.0526 | 16 | c.238 others(33): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19438435 | G | GAGAAAGA others(9): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01496.hp1 HG02015.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(12): Show |
15 | 81 | 0.1852 | 16 | c.-79 others(33): 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(9): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02922.hp1 NA18972.hp2 |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0007a0010c0013t0009 | a0001c0001t0007g0190 a0001c0001t0007g0250 a0010c0013t0009g0052 |
3 | 80 | 0.0375 | 16 | c.789 others(29): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19473345 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0080 | 1 | 50 | 0.0200 | 16 | c.193 others(33): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19490711 | T | TTTCCTTC others(9): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0013a0001c0001t0014 | a0001c0001t0011g0335 a0001c0001t0013g0114 a0001c0001t0014g0125 |
3 | 59 | 0.0508 | 16 | c.274 others(33): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19492915 | G | GATAGATA others(9): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 170 | 0.0059 | 16 | c.282 others(33): 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(9): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01123.hp2 others(14): Show |
a0001a0002a0014 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0100 a0001c0001t0001g0140 a0001c0001t0001g0233 others(14): Show |
17 | 186 | 0.0914 | 16 | c.282 others(33): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19493463 | C | CTCTTTCT others(9): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01175.hp2 others(22): Show |
a0001a0009 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(2): Show | a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0004g0018 others(22): Show |
25 | 322 | 0.0776 | 16 | c.282 others(33): 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(9): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0088 | 1 | 219 | 0.0046 | 16 | c.293 others(33): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC5_chr16_19412883_19504113 | 19496887 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0004 | a0005c0004t0013 | a0005c0004t0013g0098 | 1 | 48 | 0.0208 | 16 | c.293 others(33): Show |
TMC5 | ENSG00000103534.17 | transcript | ENST00000542583.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78110942 | C | CAGAGACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00544.hp2 others(119): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0033others(18): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(63): Show | a0001c0001t0004g0164 a0001c0001t0004g0250 a0001c0001t0004g0251 others(118): Show |
122 | 440 | 0.2773 | 16 | c.*22 others(27): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 20/20 | 2205 | chr17 | TogoVar | ||||||
TMC6_chr17_78102397_78133755 | 78110942 | C | CGGAGACA others(9): Show |
3_prime_UTR_variant | MODIFIER | HG01433.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0346 a0001c0001t0030g0426 |
2 | 320 | 0.0063 | 16 | c.*22 others(27): Show |
TMC6 | ENSG00000141524.19 | transcript | ENST00000590602.6 | protein_coding | 20/20 | 2205 | chr17 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19020600 | G | GCTCACGC others(9): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 280 | 0.0036 | 16 | c.461 others(33): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMC7_chr16_18978934_19068942 | 19064341 | C | CTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 274 | 0.0036 | 16 | c.*24 others(27): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 400 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064343 | C | CTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01361.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(12): Show |
15 | 237 | 0.0633 | 16 | c.*25 others(27): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 402 | chr16 | TogoVar | |||||||
TMC7_chr16_18978934_19068942 | 19064345 | C | CTGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0131 a0001c0001t0001g0132 others(9): Show |
12 | 198 | 0.0606 | 16 | c.*25 others(27): Show |
TMC7 | ENSG00000170537.13 | transcript | ENST00000304381.10 | protein_coding | 404 | chr16 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129726868 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00733.hp2 HG01081.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0024 a0001c0001t0001g0049 a0001c0001t0001g0061 others(9): Show |
12 | 45 | 0.2667 | 16 | c.577 others(35): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129759709 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0155 | 1 | 223 | 0.0045 | 16 | c.576 others(35): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC1_chr3_129642792_129898711 | 129760454 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 14 | 0.0714 | 16 | c.576 others(35): Show |
TMCC1 | ENSG00000172765.19 | transcript | ENST00000393238.8 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94592661 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18978.hp1 |
a0003a0006 | a0003c0010a0006c0018 | a0003c0010t0008a0006c0018t0001 | a0003c0010t0008g0242 a0006c0018t0001g0218 |
2 | 106 | 0.0189 | 16 | c.79- others(33): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94597120 | A | AATATATA others(9): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0006a0001c0003t0042others(1): Show | a0001c0002t0001g0161 a0001c0002t0006g0120 a0001c0003t0042g0105 others(1): Show |
4 | 142 | 0.0282 | 16 | c.79- others(33): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
TMCC3_chr12_94562122_94655557 | 94597164 | T | TATATATA others(9): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0007 | 1 | 341 | 0.0029 | 16 | c.79- others(33): Show |
TMCC3 | ENSG00000057704.13 | transcript | ENST00000261226.9 | protein_coding | 1/3 | chr12 | TogoVar |