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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTN_chr2_178520989_178812423 | 178646104 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03139.hp2 |
a0083a0117 | a0083c0085a0117c0086 | a0083c0085t0004a0117c0086t0004 | a0083c0085t0004g0005 a0117c0086t0004g0004 |
2 | 20 | 0.1000 | -18 | c.402 others(35): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 216/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178650214 | TTTTCCTC others(11): Show |
T | disruptive_inframe_deletion | MODERATE | HG00735.hp1 HG00741.hp1 HG01099.hp2 others(9): Show |
a0014a0040a0074others(8): Show | a0014c0204a0014c0205a0040c0209others(9): Show | a0014c0204t0001a0014c0205t0001a0040c0209t0001others(9): Show | a0014c0204t0001g0069 a0014c0205t0001g0070 a0040c0209t0001g0074 others(9): Show |
12 | 240 | 0.0500 | -18 | c.397 others(29): Show |
p.Ile others(17): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 210/363 | 39991/109224 | 39749/107976 | 13250/35991 | chr2 | TogoVar | |||
TTN_chr2_178520989_178812423 | 178699383 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(41): Show |
a0001a0002a0013others(25): Show | a0001c0001a0001c0021a0001c0171others(31): Show | a0001c0001t0001a0001c0021t0001a0001c0171t0001others(31): Show | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0036 others(41): Show |
44 | 45 | 0.9778 | -18 | c.306 others(37): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 111/362 | chr2 | TogoVar | |||||||
TTPAL_chr20_44470874_44499603 | 44494763 | CAATTAGA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 332 | 0.0030 | -18 | c.*52 others(29): Show |
TTPAL | ENSG00000124120.11 | transcript | ENST00000262605.9 | protein_coding | 161 | chr20 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54411497 | GGTGTGTG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02572.hp2 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0029 a0001c0002t0001g0027 a0001c0002t0001g0028 |
3 | 39 | 0.0769 | -18 | c.-40 others(29): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 3966 | chr19 | TogoVar | |||||||
TTYH1_chr19_54410464_54441904 | 54413680 | ACCACCAC others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 HG02080.hp2 HG02155.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0284 a0001c0001t0001g0285 others(5): Show |
9 | 328 | 0.0274 | -18 | c.-18 others(29): Show |
TTYH1 | ENSG00000167614.14 | transcript | ENST00000376530.8 | protein_coding | 1783 | chr19 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49264787 | GCCCTTCC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG03195.hp2 HG03486.hp2 |
a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0067 a0001c0006t0013g0068 |
2 | 387 | 0.0052 | -18 | c.-39 others(27): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 294 | chr12 | TogoVar | |||||||
TUBA1C_chr12_49260082_49279600 | 49264796 | GCCCTTCC others(11): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01074.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 others(17): Show |
23 | 169 | 0.1361 | -18 | c.-38 others(27): Show |
TUBA1C | ENSG00000167553.17 | transcript | ENST00000301072.11 | protein_coding | 285 | chr12 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6497024 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0045 a0001c0001t0003g0126 |
2 | 203 | 0.0099 | -18 | c.278 others(33): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
TUBB6_chr18_12303241_12331616 | 12329913 | TAAGGTTG others(11): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 400 | 0.0025 | -18 | c.*37 others(29): Show |
TUBB6 | ENSG00000176014.13 | transcript | ENST00000317702.10 | protein_coding | 3298 | chr18 | TogoVar | |||||||
TUBD1_chr17_59854479_59897943 | 59870372 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0297 | 1 | 54 | 0.0185 | -18 | c.935 others(35): Show |
TUBD1 | ENSG00000108423.15 | transcript | ENST00000325752.8 | protein_coding | 6/8 | chr17 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133283673 | CTCCCTGC others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(238): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(192): Show |
241 | 282 | 0.8546 | -18 | c.214 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 14/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291270 | CATGTCCC others(11): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0211 |
3 | 282 | 0.0106 | -18 | c.121 others(37): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291347 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG02809.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0003a0001c0004t0002 | a0001c0001t0001g0184 a0001c0002t0003g0055 a0001c0002t0003g0076 others(1): Show |
4 | 270 | 0.0148 | -18 | c.121 others(37): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291441 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02976.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0015 a0001c0002t0003g0011 |
2 | 277 | 0.0072 | -18 | c.121 others(37): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291535 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004a0001c0008others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0008t0002others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0205 a0001c0001t0001g0222 others(5): Show |
10 | 272 | 0.0368 | -18 | c.121 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291629 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02258.hp2 HG02622.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0004t0002others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0184 others(6): Show |
10 | 269 | 0.0372 | -18 | c.121 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291723 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01515.hp2 HG01517.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0153 a0001c0001t0001g0155 others(7): Show |
11 | 266 | 0.0414 | -18 | c.121 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291831 | CCCCCATG others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 2 | 259 | 0.0077 | -18 | c.121 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292105 | GTGTCCCC others(11): Show |
G | intron_variant | MODIFIER | HG02970.hp2 NA19010.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0104 a0001c0001t0001g0207 a0001c0002t0008g0060 |
3 | 276 | 0.0109 | -18 | c.121 others(35): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133292444 | ATGTCCCT others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG01081.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0001g0027 a0001c0001t0001g0121 a0001c0001t0001g0132 others(14): Show |
18 | 279 | 0.0645 | -18 | c.121 others(33): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TUBGCP4_chr15_43366101_43414771 | 43392075 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0090 | 1 | 133 | 0.0075 | -18 | c.101 others(37): Show |
TUBGCP4 | ENSG00000137822.13 | transcript | ENST00000564079.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TULP2_chr19_48875967_48903744 | 48881192 | ACTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 362 | 0.0028 | -18 | c.144 others(33): Show |
TULP2 | ENSG00000104804.9 | transcript | ENST00000221399.8 | protein_coding | 12/12 | chr19 | TogoVar | |||||||
TULP3_chr12_2885891_2946138 | 2911664 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02135.hp1 HG02965.hp2 NA18942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 a0001c0001t0001g0332 a0001c0001t0001g0347 |
3 | 8 | 0.3750 | -18 | c.93+ others(33): Show |
TULP3 | ENSG00000078246.17 | transcript | ENST00000448120.7 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158328079 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0027 | a0001c0027t0040 | a0001c0027t0040g0236 | 1 | 157 | 0.0064 | -18 | c.252 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158328115 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0041 | 1 | 266 | 0.0038 | -18 | c.252 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158332184 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG03688.hp1 NA18978.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0009 a0001c0002t0001g0013 a0001c0002t0001g0051 others(1): Show |
4 | 249 | 0.0161 | -18 | c.252 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158332186 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00597.hp1 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001 | a0001c0001t0007g0050 a0001c0002t0001g0048 |
2 | 262 | 0.0076 | -18 | c.252 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158342947 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 7 | 0.1429 | -18 | c.252 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158396239 | TTCTCTCA others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02970.hp1 |
a0001 | a0001c0022a0001c0047a0001c0049 | a0001c0022t0073a0001c0047t0070a0001c0049t0086 | a0001c0022t0073g0220 a0001c0047t0070g0159 a0001c0049t0086g0181 |
3 | 266 | 0.0113 | -18 | c.253 others(37): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
TULP4_chr6_158307465_158516828 | 158427471 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0006a0001c0001t0034a0001c0001t0092others(13): Show | a0001c0001t0006g0185 a0001c0001t0006g0186 a0001c0001t0006g0187 others(23): Show |
26 | 41 | 0.6341 | -18 | c.382 others(35): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158515179 | GGCACCCC others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0154 | 1 | 266 | 0.0038 | -18 | c.*84 others(29): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 3352 | chr6 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15536681 | CAAAAAAA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02559.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0004 | a0001c0001t0004g0114 a0001c0001t0008g0135 a0001c0001t0008g0136 others(1): Show |
4 | 29 | 0.1379 | -18 | c.-37 others(29): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 3581 | chr8 | TogoVar | |||||||
TUSC3_chr8_15535263_15771638 | 15555276 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0010a0001c0006t0002 | a0001c0001t0010g0169 a0001c0006t0002g0351 |
2 | 61 | 0.0328 | -18 | c.138 others(37): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUSC3_chr8_15535263_15771638 | 15664437 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0166 a0001c0001t0001g0183 a0001c0001t0001g0184 others(48): Show |
51 | 61 | 0.8361 | -18 | c.708 others(35): Show |
TUSC3 | ENSG00000104723.21 | transcript | ENST00000503731.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TUT4_chr1_52418275_52558092 | 52498902 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01081.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0086 others(15): Show |
18 | 68 | 0.2647 | -18 | c.100 others(37): Show |
TUT4 | ENSG00000134744.14 | transcript | ENST00000257177.9 | protein_coding | 4/29 | chr1 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10764052 | AGGAGCAT others(11): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352 | 1 | 408 | 0.0025 | -18 | c.*50 others(29): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2622 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10802241 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0182 | 1 | 174 | 0.0057 | -18 | c.89+ others(35): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10802268 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0408 | 1 | 408 | 0.0025 | -18 | c.89+ others(35): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 2/7 | chr16 | TogoVar | |||||||
TVP23A_chr16_10761675_10823794 | 10820454 | GTATATAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02615.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0007a0001c0001t0012a0001c0001t0024others(5): Show | a0001c0001t0007g0042 a0001c0001t0012g0397 a0001c0001t0024g0398 others(6): Show |
9 | 309 | 0.0291 | -18 | c.-19 others(29): Show |
TVP23A | ENSG00000166676.17 | transcript | ENST00000299866.13 | protein_coding | 1661 | chr16 | TogoVar | |||||||
TWIST1_chr7_19110468_19122636 | 19117045 | TGCCGCCG others(11): Show |
T | conservative_inframe_deletion | MODERATE | NA18974.hp1 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0028 | 1 | 420 | 0.0024 | -18 | c.259 others(25): Show |
p.Ala others(11): Show |
TWIST1 | ENSG00000122691.13 | transcript | ENST00000242261.6 | protein_coding | 1/2 | 591/1630 | 259/609 | 87/202 | chr7 | TogoVar | |||
TWIST2_chr2_238843085_238915534 | 238867922 | TGGAGCAG others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 336 | 0.0030 | -18 | c.*35 others(37): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238880554 | ATTAGTAT others(11): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 336 | 0.0030 | -18 | c.*36 others(37): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238903083 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03195.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0100 a0001c0001t0001g0316 a0001c0001t0002g0246 others(1): Show |
4 | 336 | 0.0119 | -18 | c.*36 others(35): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWSG1_chr18_9329773_9407420 | 9343210 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 a0001c0001t0002g0055 |
2 | 15 | 0.1333 | -18 | c.123 others(35): Show |
TWSG1 | ENSG00000128791.12 | transcript | ENST00000262120.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TWSG1_chr18_9329773_9407420 | 9353218 | GATGCATT others(11): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(204): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(186): Show |
207 | 352 | 0.5881 | -18 | c.124 others(35): Show |
TWSG1 | ENSG00000128791.12 | transcript | ENST00000262120.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
TWSG1_chr18_9329773_9407420 | 9376592 | ACCCCTTT others(11): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 352 | 0.0028 | -18 | c.223 others(37): Show |
TWSG1 | ENSG00000128791.12 | transcript | ENST00000262120.10 | protein_coding | 3/4 | chr18 | TogoVar | |||||||
TXLNG_chrX_16781466_16849519 | 16814977 | AGCCTCAG others(11): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 262 | 0.0038 | -18 | c.103 others(35): Show |
TXLNG | ENSG00000086712.13 | transcript | ENST00000380122.10 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52525699 | AAATAATA others(11): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00735.hp2 others(48): Show |
a0002a0005a0009 | a0002c0003a0002c0009a0005c0006others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(7): Show | a0002c0003t0001g0206 a0002c0003t0002g0002 a0002c0003t0002g0008 others(47): Show |
51 | 134 | 0.3806 | -18 | c.393 others(35): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
TXNDC5_chr6_7876517_7915788 | 7884272 | AGAGTGAG others(11): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0233 | 1 | 400 | 0.0025 | -18 | c.117 others(33): Show |
TXNDC5 | ENSG00000239264.9 | transcript | ENST00000379757.9 | protein_coding | 9/9 | chr6 | TogoVar |