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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTBK2_chr15_42733730_42925778 | 42763184 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0203 | 1 | 245 | 0.0041 | -17 | c.199 others(36): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 13/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42763186 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0028 | 1 | 240 | 0.0042 | -17 | c.199 others(36): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 13/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42763192 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03540.hp2 |
a0003 | a0003c0003a0003c0011 | a0003c0003t0012a0003c0011t0012 | a0003c0003t0012g0171 a0003c0003t0012g0173 a0003c0011t0012g0172 |
3 | 143 | 0.0210 | -17 | c.199 others(36): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 13/14 | chr15 | TogoVar | |||||||
TTBK2_chr15_42733730_42925778 | 42764924 | AGCAATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0203 | 1 | 246 | 0.0041 | -17 | c.199 others(38): Show |
TTBK2 | ENSG00000128881.18 | transcript | ENST00000267890.11 | protein_coding | 13/14 | chr15 | TogoVar | |||||||
TTC23L_chr5_34834164_34905511 | 34858211 | TCCTTGGC others(10): Show |
T | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 390 | 0.0026 | -17 | c.380 others(34): Show |
TTC23L | ENSG00000205838.15 | transcript | ENST00000505624.6 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
TTC23_chr15_99131323_99254581 | 99146748 | AAGGGATA others(10): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0095 | 1 | 366 | 0.0027 | -17 | c.114 others(36): Show |
TTC23 | ENSG00000103852.13 | transcript | ENST00000394132.7 | protein_coding | 12/13 | chr15 | TogoVar | |||||||
TTC27_chr2_32623050_32826051 | 32706077 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00597.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0004a0003c0004t0001 | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 others(45): Show |
48 | 111 | 0.4324 | -17 | c.123 others(36): Show |
TTC27 | ENSG00000018699.13 | transcript | ENST00000317907.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTC27_chr2_32623050_32826051 | 32745054 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 58 | 0.0172 | -17 | c.145 others(36): Show |
TTC27 | ENSG00000018699.13 | transcript | ENST00000317907.9 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TTC28_chr22_27973014_28684840 | 28032173 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG06807.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0062 | a0001c0001t0008g0045 a0001c0001t0008g0145 a0001c0001t0062g0144 |
3 | 195 | 0.0154 | -17 | c.393 others(36): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28032190 | AATATATA others(10): Show |
A | intron_variant | MODIFIER | HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0007 | a0001c0001t0017g0056 a0001c0002t0007g0118 |
2 | 179 | 0.0112 | -17 | c.393 others(36): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC28_chr22_27973014_28684840 | 28032205 | AATATATA others(10): Show |
A | intron_variant | MODIFIER | HG03130.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0004t0001 | a0001c0001t0008g0172 a0001c0004t0001g0061 |
2 | 196 | 0.0102 | -17 | c.393 others(36): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 12/22 | chr22 | TogoVar | |||||||
TTC29_chr4_146701617_146950864 | 146703001 | AATGATCA others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18957.hp1 NA19076.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 a0001c0001t0001g0291 |
2 | 290 | 0.0069 | -17 | c.*41 others(28): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 3615 | chr4 | TogoVar | |||||||
TTC29_chr4_146701617_146950864 | 146708307 | TTTATATA others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 286 | 0.0035 | -17 | c.133 others(34): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 11/12 | chr4 | TogoVar | |||||||
TTC29_chr4_146701617_146950864 | 146946925 | TGTGTGAA others(10): Show |
T | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG02004.hp1 others(8): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0082 a0003c0004t0001g0083 a0003c0004t0001g0084 others(8): Show |
11 | 290 | 0.0379 | -17 | c.-12 others(28): Show |
TTC29 | ENSG00000137473.19 | transcript | ENST00000325106.9 | protein_coding | 1062 | chr4 | TogoVar | |||||||
TTC39B_chr9_15158622_15312216 | 15167005 | TATATATA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02622.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0002 a0001c0001t0014g0210 |
3 | 258 | 0.0116 | -17 | c.*49 others(28): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 20/20 | 4997 | chr9 | TogoVar | ||||||
TTC39B_chr9_15158622_15312216 | 15167011 | TATATATA others(10): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19043.hp2 | a0007 | a0007c0010 | a0007c0010t0066 | a0007c0010t0066g0181 | 1 | 258 | 0.0039 | -17 | c.*49 others(28): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 20/20 | 4991 | chr9 | TogoVar | ||||||
TTC39B_chr9_15158622_15312216 | 15300891 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00741.hp1 others(41): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0145 others(40): Show |
44 | 53 | 0.8302 | -17 | c.42+ others(32): Show |
TTC39B | ENSG00000155158.20 | transcript | ENST00000512701.7 | protein_coding | 1/19 | chr9 | TogoVar | |||||||
TTC39C_chr18_24009754_24140600 | 24045908 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01943.hp2 HG02165.hp1 HG02717.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0001t0002g0060 others(13): Show |
16 | 322 | 0.0497 | -17 | c.168 others(36): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | chr18 | TogoVar | |||||||
TTC39C_chr18_24009754_24140600 | 24045910 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG00673.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0049 others(50): Show |
53 | 323 | 0.1641 | -17 | c.168 others(36): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | chr18 | TogoVar | |||||||
TTC39C_chr18_24009754_24140600 | 24045911 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01346.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0002g0020 others(4): Show |
7 | 322 | 0.0217 | -17 | c.168 others(36): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTC39C_chr18_24009754_24140600 | 24045915 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0167 | 1 | 319 | 0.0031 | -17 | c.168 others(36): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTC39C_chr18_24009754_24140600 | 24045919 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0027 | 1 | 322 | 0.0031 | -17 | c.168 others(36): Show |
TTC39C | ENSG00000168234.13 | transcript | ENST00000317571.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37651417 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0101 | 1 | 212 | 0.0047 | -17 | c.939 others(36): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37651421 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0034 | a0001c0034t0001 | a0001c0034t0001g0144 | 1 | 210 | 0.0048 | -17 | c.939 others(36): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTC6_chr14_37590629_37847717 | 37741273 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0206 | 1 | 4 | 0.2500 | -17 | c.236 others(36): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 12/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTC7B_chr14_90519564_90821430 | 90573528 | TCTCTCAG others(10): Show |
T | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0076 | 1 | 198 | 0.0051 | -17 | c.231 others(36): Show |
TTC7B | ENSG00000165914.15 | transcript | ENST00000328459.11 | protein_coding | 19/19 | chr14 | TogoVar | |||||||
TTC9C_chr11_62723486_62743636 | 62740400 | TAAAAAAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG00741.hp2 others(46): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 a0001c0003t0001g0007 a0001c0003t0001g0010 others(25): Show |
49 | 62 | 0.7903 | -17 | c.*20 others(28): Show |
TTC9C | ENSG00000162222.14 | transcript | ENST00000316461.9 | protein_coding | 1765 | chr11 | TogoVar | |||||||
TTC9_chr14_70636916_70680366 | 70654587 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(86): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0304 others(77): Show |
89 | 119 | 0.7479 | -17 | c.406 others(36): Show |
TTC9 | ENSG00000133985.3 | transcript | ENST00000256367.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTF1_chr9_132370548_132411840 | 132378264 | GTGCATGT others(10): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03453.hp2 |
a0004a0012 | a0004c0004a0012c0017 | a0004c0004t0002a0012c0017t0001 | a0004c0004t0002g0104 a0012c0017t0001g0159 |
2 | 397 | 0.0050 | -17 | c.246 others(34): Show |
TTF1 | ENSG00000125482.13 | transcript | ENST00000334270.3 | protein_coding | 10/10 | chr9 | TogoVar | |||||||
TTF1_chr9_132370548_132411840 | 132378421 | GTGCATGT others(10): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00735.hp2 others(94): Show |
a0001a0002a0005 | a0001c0001a0001c0005a0001c0022others(3): Show | a0001c0001t0001a0001c0005t0002a0001c0022t0002others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0049 a0001c0001t0001g0144 others(53): Show |
97 | 390 | 0.2487 | -17 | c.246 others(34): Show |
TTF1 | ENSG00000125482.13 | transcript | ENST00000334270.3 | protein_coding | 10/10 | chr9 | TogoVar | |||||||
TTF1_chr9_132370548_132411840 | 132391212 | CATAGTGT others(10): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp2 HG02738.hp1 others(3): Show |
a0003a0004a0009others(1): Show | a0003c0003a0004c0004a0009c0016others(1): Show | a0003c0003t0002a0004c0004t0002a0009c0016t0002others(1): Show | a0003c0003t0002g0032 a0004c0004t0002g0102 a0009c0016t0002g0075 others(2): Show |
6 | 398 | 0.0151 | -17 | c.198 others(34): Show |
TTF1 | ENSG00000125482.13 | transcript | ENST00000334270.3 | protein_coding | 6/10 | chr9 | TogoVar | |||||||
TTI2_chr8_33493722_33518135 | 33495685 | ATTTTTTT others(10): Show |
A | downstream_gene_variant | MODIFIER | HG03139.hp1 HG03195.hp2 HG03471.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 a0002c0002t0002g0247 a0002c0002t0002g0250 others(1): Show |
5 | 6 | 0.8333 | -17 | c.*34 others(28): Show |
TTI2 | ENSG00000129696.13 | transcript | ENST00000431156.7 | protein_coding | 3036 | chr8 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121944547 | ATTGACAG others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0007 | a0007c0010 | a0007c0010t0008 | a0007c0010t0008g0024 | 1 | 172 | 0.0058 | -17 | c.148 others(38): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 122095916 | ACATATAT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0145 | 1 | 136 | 0.0074 | -17 | c.-27 others(28): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 2609 | chr9 | TogoVar | |||||||
TTLL13_chr15_90244556_90270477 | 90246787 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | NA18972.hp2 NA19064.hp2 NA19065.hp1 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0003 | a0001c0001t0001g0001 a0004c0004t0003g0025 a0004c0004t0003g0226 |
3 | 43 | 0.0698 | -17 | c.-30 others(28): Show |
TTLL13 | ENSG00000213471.10 | transcript | ENST00000641754.2 | protein_coding | 2768 | chr15 | TogoVar | |||||||
TTLL13_chr15_90244556_90270477 | 90248718 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02723.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0016 | a0001c0001t0001a0001c0001t0003a0002c0016t0003 | a0001c0001t0001g0001 a0001c0001t0003g0019 a0001c0001t0003g0107 others(1): Show |
5 | 57 | 0.0877 | -17 | c.-11 others(28): Show |
TTLL13 | ENSG00000213471.10 | transcript | ENST00000641754.2 | protein_coding | 837 | chr15 | TogoVar | |||||||
TTLL1_chr22_43034516_43094391 | 43035357 | GCCCAGTC others(10): Show |
G | downstream_gene_variant | MODIFIER | HG02738.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0350 a0001c0001t0001g0351 |
2 | 358 | 0.0056 | -17 | c.*44 others(28): Show |
TTLL1 | ENSG00000100271.17 | transcript | ENST00000266254.12 | protein_coding | 4158 | chr22 | TogoVar | |||||||
TTLL3_chr3_9805262_9841365 | 9813074 | TAGCTCAG others(10): Show |
T | frameshift_variant | HIGH | NA19072.hp1 | a0018 | a0018c0023 | a0018c0023t0002 | a0018c0023t0002g0091 | 1 | 398 | 0.0025 | -17 | c.181 others(24): Show |
p.Ser others(4): Show |
TTLL3 | ENSG00000214021.18 | transcript | ENST00000685419.1 | protein_coding | 3/14 | 355/3498 | 181/2448 | 61/815 | chr3 | TogoVar | |||
TTLL5_chr14_75656246_75960079 | 75869046 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 196 | 0.0051 | -17 | c.352 others(36): Show |
TTLL5 | ENSG00000119685.20 | transcript | ENST00000298832.14 | protein_coding | 29/31 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TTLL6_chr17_48757234_48822229 | 48804924 | GCTTTCCA others(10): Show |
G | frameshift_variant | HIGH | HG01261.hp2 HG01433.hp1 NA18971.hp1 |
a0007a0015 | a0007c0010a0015c0016 | a0007c0010t0001a0015c0016t0001 | a0007c0010t0001g0118 a0007c0010t0001g0119 a0015c0016t0001g0117 |
3 | 328 | 0.0091 | -17 | c.154 others(24): Show |
p.Cys others(4): Show |
TTLL6 | ENSG00000170703.16 | transcript | ENST00000393382.8 | protein_coding | 2/16 | 327/3573 | 154/2676 | 52/891 | chr17 | TogoVar | |||
TTLL8_chr22_50013575_50063298 | 50013592 | TGTGTCTG others(10): Show |
T | downstream_gene_variant | MODIFIER | HG02602.hp1 HG03491.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0098 a0003c0003t0002g0111 |
2 | 222 | 0.0090 | -17 | c.*51 others(28): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 4982 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50057605 | GAGCGGGA others(10): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG02976.hp2 HG03098.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0007 a0001c0001t0001g0189 a0004c0004t0001g0190 |
4 | 222 | 0.0180 | -17 | c.-39 others(32): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
TTLL9_chr20_31865634_31950000 | 31873816 | GGAAGGAA others(10): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0150 | 1 | 262 | 0.0038 | -17 | c.69+ others(32): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
TTLL9_chr20_31865634_31950000 | 31873820 | GGAAGAAA others(10): Show |
G | intron_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 260 | 0.0038 | -17 | c.69+ others(32): Show |
TTLL9 | ENSG00000131044.19 | transcript | ENST00000535842.6 | protein_coding | 2/14 | chr20 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178699383 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02027.hp2 HG02040.hp1 others(11): Show |
a0001a0019a0022others(11): Show | a0001c0193a0019c0019a0022c0010others(11): Show | a0001c0193t0001a0019c0019t0001a0022c0010t0001others(11): Show | a0001c0193t0001g0033 a0019c0019t0001g0095 a0022c0010t0001g0236 others(11): Show |
14 | 15 | 0.9333 | -17 | c.306 others(36): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 111/362 | chr2 | TogoVar | |||||||
TTYH3_chr7_2626986_2669802 | 2634447 | GGGGTGGA others(10): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 400 | 0.0025 | -17 | c.123 others(34): Show |
TTYH3 | ENSG00000136295.16 | transcript | ENST00000258796.12 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
TUBA1A_chr12_49179795_49194080 | 49190734 | ATGCAAAA others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0001a0001c0008t0001 | a0001c0003t0001g0015 a0001c0003t0001g0025 a0001c0003t0001g0059 others(4): Show |
10 | 360 | 0.0278 | -17 | c.-17 others(28): Show |
TUBA1A | ENSG00000167552.15 | transcript | ENST00000301071.12 | protein_coding | 1655 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49134536 | ATTTTTTT others(10): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0028 | 1 | 81 | 0.0123 | -17 | c.-32 others(28): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3142 | chr12 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19176725 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03540.hp1 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0058 |
2 | 29 | 0.0690 | -17 | c.105 others(34): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
TUBB3_chr16_89918342_89941097 | 89923395 | GCCCAGTA others(10): Show |
G | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0055 | 1 | 396 | 0.0025 | -17 | c.-5_ others(22): Show |
p.Met others(3): Show |
TUBB3 | ENSG00000258947.8 | transcript | ENST00000315491.12 | protein_coding | 1/4 | 56/1706 | 1/1353 | 1/450 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |