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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG03710.hp2 NA18939.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 5 | 55 | 0.0909 | 16 | c.-39 others(27): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01358.hp2 HG02165.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 6 | 56 | 0.1071 | 16 | c.-39 others(27): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA1B_chr12_49122782_49136395 | 49135253 | A | ATATATTT others(9): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 NA19011.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 53 | 0.0566 | 16 | c.-39 others(27): Show |
TUBA1B | ENSG00000123416.15 | transcript | ENST00000336023.9 | protein_coding | 3859 | chr12 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19176725 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01257.hp2 HG02809.hp1 HG03195.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0039 a0004c0007t0001g0078 |
3 | 30 | 0.1000 | 16 | c.105 others(33): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
TUBA3C_chr13_19168772_19186824 | 19186697 | A | AGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(46): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(12): Show |
49 | 92 | 0.5326 | 16 | c.-49 others(27): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 4874 | chr13 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3228698 | C | CACCCCGC others(9): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0011 | 1 | 358 | 0.0028 | 16 | c.-11 others(27): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1046 | chr6 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6490283 | T | TTTTCCTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(176): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(79): Show |
179 | 426 | 0.4202 | 16 | c.*48 others(27): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 4035 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6490300 | T | TTTCCTTC others(9): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0164 a0001c0002t0020g0165 |
2 | 426 | 0.0047 | 16 | c.*48 others(27): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 4018 | chr19 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6497024 | A | AAAAAATA others(9): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0175 | 1 | 202 | 0.0050 | 16 | c.278 others(31): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB6_chr18_12303241_12331616 | 12318756 | T | TTTTGTTT others(9): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 115 | 0.0087 | 16 | c.278 others(33): Show |
TUBB6 | ENSG00000176014.13 | transcript | ENST00000317702.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TUBGCP3_chr13_112480011_112593153 | 112514468 | A | AAAGGGGG others(9): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 310 | 0.0032 | 16 | c.208 others(35): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 17/21 | chr13 | TogoVar | |||||||
TUBGCP3_chr13_112480011_112593153 | 112578558 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 114 | 0.0088 | 16 | c.77- others(31): Show |
TUBGCP3 | ENSG00000126216.15 | transcript | ENST00000261965.8 | protein_coding | 1/21 | chr13 | TogoVar | |||||||
TUBGCP5_chr15_22994177_23044569 | 23016969 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01516.hp2 HG01517.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0042 others(1): Show |
6 | 169 | 0.0355 | 16 | c.175 others(33): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 13/22 | chr15 | TogoVar | |||||||
TUB_chr11_8076211_8111243 | 8079673 | G | GGTGTGTG others(9): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 279 | 0.0036 | 16 | c.-18 others(27): Show |
TUB | ENSG00000166402.9 | transcript | ENST00000299506.3 | protein_coding | 1537 | chr11 | TogoVar | |||||||
TUFT1_chr1_151535309_151588583 | 151561473 | G | GCACACAC others(9): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 a0001c0001t0002g0263 |
2 | 42 | 0.0476 | 16 | c.61- others(29): Show |
TUFT1 | ENSG00000143367.17 | transcript | ENST00000368849.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TULP2_chr19_48875967_48903744 | 48887311 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0171 a0001c0001t0001g0218 |
3 | 12 | 0.2500 | 16 | c.948 others(31): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 8/12 | chr19 | TogoVar | |||||||
TULP2_chr19_48875967_48903744 | 48903380 | A | AGATGGAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01074.hp2 others(14): Show |
a0001a0013 | a0001c0001a0013c0009 | a0001c0001t0002a0013c0009t0001 | a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0042 others(10): Show |
17 | 362 | 0.0470 | 16 | c.-47 others(27): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 4637 | chr19 | TogoVar | |||||||
TULP2_chr19_48875967_48903744 | 48903392 | A | AGGTGGAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(96): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0024 others(54): Show |
99 | 362 | 0.2735 | 16 | c.-48 others(27): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 4649 | chr19 | TogoVar | |||||||
TULP3_chr12_2885891_2946138 | 2911664 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 6 | 0.1667 | 16 | c.93+ others(31): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TULP3_chr12_2885891_2946138 | 2924771 | T | TAAGCAAT others(9): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 370 | 0.0027 | 16 | c.394 others(33): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 4/10 | chr12 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158328079 | G | GGTGTGTG others(9): Show |
intron_variant | MODIFIER | NA18957.hp1 NA18973.hp2 NA19011.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0013 a0001c0002t0001g0033 a0001c0002t0001g0061 others(2): Show |
5 | 161 | 0.0311 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158331724 | C | CGTATATA others(9): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0050 | a0001c0050t0029 | a0001c0050t0029g0215 | 1 | 180 | 0.0056 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158331733 | G | GTGTATAT others(9): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0004 | a0001c0004t0035 | a0001c0004t0035g0196 | 1 | 123 | 0.0081 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158331771 | G | GTATATAT others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0101 | 1 | 130 | 0.0077 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158337035 | T | TTTTCTTT others(9): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp1 |
a0001 | a0001c0022a0001c0029 | a0001c0022t0073a0001c0029t0038 | a0001c0022t0073g0220 a0001c0029t0038g0231 |
2 | 235 | 0.0085 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158342947 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02486.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0001t0034a0001c0003t0015others(1): Show | a0001c0001t0006g0185 a0001c0001t0034g0193 a0001c0003t0015g0234 others(2): Show |
5 | 11 | 0.4545 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158342961 | G | GTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0036 | a0001c0005t0036g0237 | 1 | 266 | 0.0038 | 16 | c.252 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158368066 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0004a0001c0006a0001c0007others(1): Show | a0001c0004t0011a0001c0004t0021a0001c0006t0021others(2): Show | a0001c0004t0011g0202 a0001c0004t0021g0205 a0001c0006t0021g0200 others(2): Show |
5 | 102 | 0.0490 | 16 | c.253 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158385842 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG03225.hp2 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0053a0001c0008t0055 | a0001c0001t0002g0143 a0001c0008t0053g0184 a0001c0008t0055g0183 |
3 | 94 | 0.0319 | 16 | c.253 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TUNAR_chr14_95871832_95930571 | 95929926 | T | TTTTCTTT others(9): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG03017.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0046 others(2): Show |
7 | 142 | 0.0493 | 16 | c.*69 others(27): Show |
TUNAR | ENSG00000250366.4 | transcript | ENST00000503525.3 | protein_coding | 4356 | chr14 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15570954 | G | GTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01123.hp2 HG01255.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0001g0304 others(14): Show |
17 | 69 | 0.2464 | 16 | c.138 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15598587 | G | GTCTGTGT others(9): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(303): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0183 a0001c0001t0001g0184 others(302): Show |
306 | 370 | 0.8270 | 16 | c.139 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15613064 | G | GATATATA others(9): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0364 | 1 | 96 | 0.0104 | 16 | c.139 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15617120 | A | ATGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01123.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0016others(2): Show | a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 others(10): Show |
13 | 105 | 0.1238 | 16 | c.139 others(33): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15648725 | C | CAAAAAAA others(9): Show |
intron_variant | MODIFIER | NA19005.hp2 NA19072.hp2 NA19085.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0080 a0001c0001t0003g0094 others(1): Show |
4 | 41 | 0.0976 | 16 | c.309 others(33): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15700849 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0109 a0001c0001t0008g0158 |
2 | 93 | 0.0215 | 16 | c.798 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15720201 | T | TACACACA others(9): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18951.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0011g0065 |
3 | 193 | 0.0155 | 16 | c.799 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15720201 | T | TATATACA others(9): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109 | 1 | 191 | 0.0052 | 16 | c.799 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15738827 | C | CTTTTTTT others(9): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19004.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0302 |
3 | 169 | 0.0178 | 16 | c.863 others(33): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TVP23A_chr16_10761675_10823794 | 10790279 | A | ATTTTTTT others(9): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 113 | 0.0088 | 16 | c.90- others(33): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10803245 | C | CTGTGTGT others(9): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0002g0171 others(5): Show |
8 | 235 | 0.0340 | 16 | c.89+ others(33): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10814599 | C | CCATCCCG others(9): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02258.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(16): Show | a0001c0001t0001g0082 a0001c0001t0005g0041 a0001c0001t0005g0081 others(21): Show |
24 | 408 | 0.0588 | 16 | c.89+ others(31): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10820454 | G | GTGTGTGT others(9): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 301 | 0.0033 | 16 | c.-19 others(27): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1661 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10820474 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 402 | 0.0025 | 16 | c.-19 others(27): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1681 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10820478 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG02040.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0380 a0001c0001t0005g0382 a0001c0001t0006g0333 |
3 | 169 | 0.0178 | 16 | c.-19 others(27): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1685 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10820480 | A | ATATATAT others(9): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0114 | 1 | 383 | 0.0026 | 16 | c.-19 others(27): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1687 | chr16 | TogoVar | |||||||
TVP23B_chr17_18776183_18811714 | 18783075 | C | CTATTTAT others(9): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00558.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0002g0006 others(52): Show |
76 | 175 | 0.4343 | 16 | c.12+ others(31): Show |
TVP23B | ENSG00000171928.14 | transcript | ENST00000307767.13 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TVP23B_chr17_18776183_18811714 | 18809086 | A | ATGTGTGT others(9): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 227 | 0.0044 | 16 | c.*35 others(27): Show |
TVP23B | ENSG00000171928.14 | transcript | ENST00000307767.13 | protein_coding | 2373 | chr17 | TogoVar | |||||||
TVP23C_chr17_15531980_15568483 | 15566687 | A | AGTAGCTG others(9): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0077 | 1 | 422 | 0.0024 | 16 | c.-32 others(27): Show |
TVP23C | ENSG00000175106.17 | transcript | ENST00000518321.6 | protein_coding | 3205 | chr17 | TogoVar | |||||||
TWIST1_chr7_19110468_19122636 | 19117045 | T | TGCCGCCG others(9): Show |
frameshift_variant | HIGH | NA20300.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0042 | 1 | 420 | 0.0024 | 16 | c.276 others(23): Show |
p.Ser others(4): Show |
TWIST1 | ENSG00000122691.13 | transcript | ENST00000242261.6 | protein_coding | 1/2 | 591/1630 | 276/609 | 92/202 | chr7 | TogoVar |