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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TBC1D21_chr15_73868564_73894214 | 73877514 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 10 | 0.1000 | -15 | c.60+ others(30): Show |
TBC1D21 | ENSG00000167139.9 | transcript | ENST00000300504.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TBC1D21_chr15_73868564_73894214 | 73888534 | GTCCTCCT others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0018 others(29): Show |
71 | 378 | 0.1878 | -15 | c.978 others(28): Show |
TBC1D21 | ENSG00000167139.9 | transcript | ENST00000300504.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46874562 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 16 | 0.0625 | -15 | c.638 others(32): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46984366 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 12 | 0.0833 | -15 | c.112 others(35): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D23_chr3_100255992_100330238 | 100315154 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG01978.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0071 |
3 | 69 | 0.0435 | -15 | c.159 others(32): Show |
TBC1D23 | ENSG00000036054.13 | transcript | ENST00000394144.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TBC1D28_chr17_18629247_18649391 | 18645019 | ACCCCCAC others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0074 | 1 | 462 | 0.0022 | -15 | c.-10 others(26): Show |
TBC1D28 | ENSG00000189375.12 | transcript | ENST00000405044.7 | protein_coding | 629 | chr17 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 77992825 | CCCCCCCC others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0032 | a0001c0002t0032g0090 | 1 | 271 | 0.0037 | -15 | c.*53 others(26): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 2159 | chr15 | TogoVar | |||||||
TBC1D2B_chr15_77989985_78082711 | 78056686 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18956.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 a0001c0001t0002g0140 |
2 | 41 | 0.0488 | -15 | c.361 others(32): Show |
TBC1D2B | ENSG00000167202.12 | transcript | ENST00000300584.8 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121213514 | TAAAATAA others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 NA18906.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0015 | a0001c0003t0008g0279 a0001c0003t0015g0214 a0001c0003t0015g0215 |
3 | 290 | 0.0103 | -15 | c.248 others(34): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 21/31 | chr6 | TogoVar | |||||||
TBC1D32_chr6_121074494_121339480 | 121313154 | GTGTGTGT others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0005 | a0004c0005t0016 | a0004c0005t0016g0183 | 1 | 290 | 0.0034 | -15 | c.496 others(32): Show |
TBC1D32 | ENSG00000146350.14 | transcript | ENST00000398212.7 | protein_coding | 3/31 | chr6 | TogoVar | |||||||
TBC1D4_chr13_75278503_75487169 | 75390845 | AGGGAGGG others(8): Show |
A | intron_variant | MODIFIER | HG01517.hp1 NA18955.hp2 |
a0001a0016 | a0001c0005a0016c0054 | a0001c0005t0001a0016c0054t0037 | a0001c0005t0001g0127 a0016c0054t0037g0214 |
2 | 13 | 0.1538 | -15 | c.499 others(34): Show |
TBC1D4 | ENSG00000136111.14 | transcript | ENST00000377636.8 | protein_coding | 1/20 | chr13 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17186710 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0016 | a0001c0001t0003g0005 a0001c0001t0003g0007 a0001c0001t0007g0142 others(2): Show |
5 | 20 | 0.2500 | -15 | c.181 others(34): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 19/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17244473 | CCTTCCTT others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG02056.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(1): Show |
4 | 160 | 0.0250 | -15 | c.133 others(34): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 16/22 | chr3 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17425114 | AGTGATGA others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 160 | 0.0063 | -15 | c.167 others(32): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
TBC1D8B_chrX_106797673_106881150 | 106808053 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 224 | 0.0045 | -15 | c.130 others(32): Show |
TBC1D8B | ENSG00000133138.20 | transcript | ENST00000357242.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBC1D9B_chr5_179857071_179912897 | 179911531 | TTTGGGAG others(8): Show |
T | upstream_gene_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 360 | 0.0028 | -15 | c.-37 others(26): Show |
TBC1D9B | ENSG00000197226.13 | transcript | ENST00000355235.8 | protein_coding | 3635 | chr5 | TogoVar | |||||||
TBCA_chr5_77686166_77781339 | 77699033 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 139 | 0.0072 | -15 | c.160 others(32): Show |
TBCA | ENSG00000171530.15 | transcript | ENST00000380377.9 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82850006 | CTGTTGGC others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(34): Show |
a0002a0005a0010others(3): Show | a0002c0003a0002c0006a0002c0007others(7): Show | a0002c0003t0003a0002c0003t0018a0002c0006t0003others(9): Show | a0002c0003t0003g0006 a0002c0003t0003g0205 a0002c0003t0003g0209 others(34): Show |
37 | 290 | 0.1276 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850051 | TTGTTGGC others(8): Show |
T | intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0015 | 1 | 211 | 0.0047 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850076 | TGCTGTGC others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp1 NA20300.hp2 |
a0002 | a0002c0007 | a0002c0007t0023 | a0002c0007t0023g0172 a0002c0007t0023g0173 |
2 | 235 | 0.0085 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850116 | CTGTTGGC others(8): Show |
C | intron_variant | MODIFIER | HG02723.hp2 NA18906.hp2 |
a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0211 a0002c0006t0005g0213 |
2 | 211 | 0.0095 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850152 | GCTGTGCT others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp1 HG01071.hp1 others(2): Show |
a0002a0010 | a0002c0003a0002c0006a0010c0020 | a0002c0003t0003a0002c0006t0009a0010c0020t0003 | a0002c0003t0003g0219 a0002c0003t0003g0220 a0002c0003t0003g0225 others(2): Show |
5 | 130 | 0.0385 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850453 | CTGTTGGC others(8): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp2 |
a0002 | a0002c0010 | a0002c0010t0009 | a0002c0010t0009g0149 a0002c0010t0009g0151 |
2 | 294 | 0.0068 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850523 | GGCTGTGC others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02896.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0011a0002c0012 | a0001c0002t0002a0002c0011t0012a0002c0012t0008 | a0001c0002t0002g0072 a0002c0011t0012g0161 a0002c0011t0012g0163 others(4): Show |
7 | 316 | 0.0222 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82850563 | TTGTTGGC others(8): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0023 | a0002c0023t0037 | a0002c0023t0037g0003 | 1 | 316 | 0.0032 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82855036 | TCTCCCTG others(8): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03130.hp2 HG03225.hp2 others(3): Show |
a0002a0019a0020 | a0002c0007a0002c0012a0019c0042others(1): Show | a0002c0007t0023a0002c0012t0008a0019c0042t0044others(1): Show | a0002c0007t0023g0172 a0002c0007t0023g0173 a0002c0012t0008g0170 others(3): Show |
6 | 316 | 0.0190 | -15 | c.131 others(36): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82886635 | TCTCCCCT others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG03239.hp2 NA18940.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0003 | a0001c0001t0016g0015 a0002c0003t0003g0214 a0002c0003t0003g0308 |
3 | 22 | 0.1364 | -15 | c.153 others(34): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82886686 | CTCCCCTC others(8): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0008 | a0002c0008t0007 | a0002c0008t0007g0143 | 1 | 316 | 0.0032 | -15 | c.153 others(34): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 15/38 | chr17 | TogoVar | |||||||
TBCD_chr17_82747065_82950914 | 82899248 | ACGTGTCC others(8): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0135 | 1 | 314 | 0.0032 | -15 | c.165 others(34): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 17/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82899264 | CGTGTCCT others(8): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0019 | a0019c0042 | a0019c0042t0044 | a0019c0042t0044g0137 | 1 | 316 | 0.0032 | -15 | c.165 others(34): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 17/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235371038 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02809.hp2 HG03195.hp1 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0135 |
3 | 33 | 0.0909 | -15 | c.-32 others(32): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235443579 | GCTGTTTC others(8): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0130 a0001c0001t0013g0131 a0001c0001t0013g0152 |
3 | 266 | 0.0113 | -15 | c.139 others(32): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCK_chr4_106036599_106321209 | 106309305 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01256.hp2 NA18942.hp2 NA18963.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0077 |
3 | 123 | 0.0244 | -15 | c.-29 others(30): Show |
TBCK | ENSG00000145348.17 | transcript | ENST00000394708.7 | protein_coding | 1/25 | chr4 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177017422 | GTTTTTTT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 82 | 0.0122 | -15 | c.*80 others(26): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1921 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177069778 | GAAGGAAA others(8): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0152 | 1 | 304 | 0.0033 | -15 | c.-45 others(32): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177114237 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0133 | 1 | 304 | 0.0033 | -15 | c.-12 others(36): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177175596 | TCATAGGG others(8): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG03239.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0158 a0001c0001t0002g0156 a0001c0001t0002g0157 others(2): Show |
5 | 304 | 0.0164 | -15 | c.-12 others(36): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1XR1_chr3_177014344_177202482 | 177190133 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02647.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0160 a0001c0001t0005g0161 a0001c0001t0005g0162 others(2): Show |
5 | 54 | 0.0926 | -15 | c.-12 others(34): Show |
TBL1XR1 | ENSG00000177565.19 | transcript | ENST00000457928.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9491323 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 NA18982.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0041 a0001c0001t0002g0016 others(4): Show |
7 | 197 | 0.0355 | -15 | c.-20 others(36): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 1/17 | chrX | TogoVar | |||||||
TBL1X_chrX_9460058_9724740 | 9491324 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(50): Show |
53 | 191 | 0.2775 | -15 | c.-20 others(36): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9491326 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG03041.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0042 a0001c0001t0005g0014 others(4): Show |
7 | 194 | 0.0361 | -15 | c.-20 others(36): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9526155 | GGAGAGAG others(8): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0093 | 1 | 195 | 0.0051 | -15 | c.-13 others(36): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9655856 | GTGAGGCC others(8): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0066 | 1 | 197 | 0.0051 | -15 | c.211 others(32): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL3_chr16_1967053_1987929 | 1971687 | TACGTTAT others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0001 | 1 | 428 | 0.0023 | -15 | c.-47 others(24): Show |
TBL3 | ENSG00000183751.16 | transcript | ENST00000568546.6 | protein_coding | 365 | chr16 | TogoVar | |||||||
TBL3_chr16_1967053_1987929 | 1980862 | ATGGGAGG others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00741.hp1 others(45): Show |
a0002a0011 | a0002c0003a0002c0013a0011c0031 | a0002c0003t0003a0002c0003t0027a0002c0003t0040others(5): Show | a0002c0003t0003g0001 a0002c0003t0003g0003 a0002c0003t0003g0004 others(11): Show |
48 | 428 | 0.1122 | -15 | c.*21 others(26): Show |
TBL3 | ENSG00000183751.16 | transcript | ENST00000568546.6 | protein_coding | 22/22 | 2188 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TBPL1_chr6_133948224_133995432 | 133985298 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 2 | 259 | 0.0077 | -15 | c.481 others(30): Show |
TBPL1 | ENSG00000028839.10 | transcript | ENST00000237264.9 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
TBPL2_chr14_55409210_55445616 | 55445601 | AAAAAAAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(75): Show |
a0001 | a0001c0001a0001c0004a0001c0011 | a0001c0001t0001a0001c0004t0001a0001c0011t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(74): Show |
78 | 402 | 0.1940 | -15 | c.-51 others(26): Show |
TBPL2 | ENSG00000182521.6 | transcript | ENST00000247219.6 | protein_coding | 4986 | chr14 | TogoVar | |||||||
TBP_chr6_170549369_170577859 | 170561943 | GCAGCAGC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG01168.hp1 HG01169.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0010a0001c0012 | a0001c0010t0001a0001c0012t0001 | a0001c0010t0001g0006 a0001c0010t0001g0022 a0001c0010t0001g0029 others(5): Show |
13 | 382 | 0.0340 | -15 | c.216 others(22): Show |
p.Gln others(11): Show |
TBP | ENSG00000112592.15 | transcript | ENST00000392092.7 | protein_coding | 3/8 | 459/1857 | 216/1020 | 72/339 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
TBP_chr6_170549369_170577859 | 170561958 | ACAGCAGC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0163 | 1 | 204 | 0.0049 | -15 | c.267 others(22): Show |
p.Gln others(11): Show |
TBP | ENSG00000112592.15 | transcript | ENST00000392092.7 | protein_coding | 3/8 | 510/1857 | 267/1020 | 89/339 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
TBX15_chr1_118878047_118993343 | 118893356 | GGAAAGAA others(8): Show |
G | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 176 | 0.0057 | -15 | c.102 others(34): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 7/7 | chr1 | TogoVar |