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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TERT_chr5_1248167_1300068 | 1273678 | C | CACAACCG others(374): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0315 | 1 | 374 | 0.0027 | 381 | c.228 others(400): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113625285 | G | GTGTCCTC others(374): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0148 | 1 | 242 | 0.0041 | 381 | c.186 others(398): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFDP1_chr13_113579753_113646473 | 113625285 | G | GTGTCCTC others(374): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00597.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0008 | a0001c0003t0001g0017 a0001c0003t0001g0018 a0001c0003t0001g0142 others(7): Show |
12 | 253 | 0.0474 | 381 | c.186 others(398): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TFPT_chr19_54102020_54120657 | 54109835 | C | CTCCACCC others(374): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 410 | 0.0024 | 381 | c.353 others(396): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TFPT_chr19_54102020_54120657 | 54109835 | C | CTCCACCC others(374): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02572.hp1 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 a0001c0001t0002g0018 a0001c0001t0002g0048 others(2): Show |
13 | 422 | 0.0308 | 381 | c.353 others(396): Show |
TFPT | ENSG00000105619.14 | transcript | ENST00000391759.6 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
TMEM163_chr2_134450759_134724000 | 134608389 | A | AAGGACAG others(374): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 184 | 0.0054 | 381 | c.323 others(400): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGTTAGG others(374): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0076 | 1 | 371 | 0.0027 | 381 | c.*47 others(392): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930908 | C | CAGGGGTT others(374): Show |
downstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 293 | 0.0034 | 381 | c.*46 others(392): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4461 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(374): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01106.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0051 |
3 | 272 | 0.0110 | 381 | c.-23 others(398): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58539492 | C | CCCTGCTT others(374): Show |
upstream_gene_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 399 | 0.0025 | 381 | c.-52 others(392): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4571 | chr19 | TogoVar | |||||||
TRIM2_chr4_153199443_153344317 | 153222058 | A | AAGGAAGG others(374): Show |
intron_variant | MODIFIER | HG01069.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 a0001c0001t0001g0211 |
2 | 88 | 0.0227 | 381 | c.30+ others(398): Show |
TRIM2 | ENSG00000109654.16 | transcript | ENST00000338700.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(374): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 226 | 0.0044 | 381 | c.153 others(398): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(374): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01256.hp1 others(34): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0004a0001c0001t0017a0001c0001t0031others(10): Show | a0001c0001t0004g0139 a0001c0001t0017g0334 a0001c0001t0031g0345 others(32): Show |
37 | 262 | 0.1412 | 381 | c.153 others(398): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(374): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0056 others(49): Show |
53 | 278 | 0.1906 | 381 | c.153 others(398): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(374): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0330 | 1 | 226 | 0.0044 | 381 | c.153 others(398): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TRIM67_chr1_231157058_231226565 | 231202070 | G | GGAGGAGG others(374): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0169 | 1 | 226 | 0.0044 | 381 | c.153 others(398): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870316 | C | CACCACAC others(374): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 229 | 0.0044 | 381 | c.*35 others(400): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530556 | A | ATATTATA others(374): Show |
intron_variant | MODIFIER | HG03209.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 a0001c0002t0001g0112 |
2 | 12 | 0.1667 | 381 | c.392 others(398): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41891145 | C | CGGGGAAG others(374): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02615.hp2 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0047 a0001c0001t0001g0054 |
3 | 45 | 0.0667 | 381 | c.157 others(400): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41891161 | G | GGGAGGGG others(374): Show |
intron_variant | MODIFIER | HG04115.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 a0001c0001t0001g0046 |
2 | 38 | 0.0526 | 381 | c.157 others(400): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 16/36 | chr3 | TogoVar | |||||||
UROC1_chr3_126476166_126522773 | 126515485 | T | TACCACCT others(374): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG02622.hp2 |
a0001a0011 | a0001c0002a0011c0020 | a0001c0002t0001a0011c0020t0002 | a0001c0002t0001g0018 a0011c0020t0002g0045 |
3 | 365 | 0.0082 | 381 | c.126 others(398): Show |
UROC1 | ENSG00000159650.9 | transcript | ENST00000290868.7 | protein_coding | 1/19 | chr3 | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844213 | A | AGGGAGGG others(374): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 294 | 0.0034 | 381 | c.*19 others(390): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 71 | chrX | TogoVar | |||||||
ZC3HAV1_chr7_139038515_139114720 | 139101478 | G | GCCTTTGC others(374): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0006 | a0006c0010 | a0006c0010t0036 | a0006c0010t0036g0012 | 1 | 189 | 0.0053 | 381 | c.308 others(398): Show |
ZC3HAV1 | ENSG00000105939.14 | transcript | ENST00000242351.10 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
ZFP42_chr4_187990771_188010046 | 187991491 | A | ACTTCCCA others(374): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02717.hp1 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020 | 3 | 433 | 0.0069 | 381 | c.-46 others(392): Show |
ZFP42 | ENSG00000179059.10 | transcript | ENST00000326866.5 | protein_coding | 4279 | chr4 | TogoVar | |||||||
ZFPM2_chr8_105313438_105809539 | 105380894 | A | ATATAACA others(374): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0073 |
2 | 85 | 0.0235 | 381 | c.41- others(398): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF268_chr12_133176495_133219832 | 133188094 | T | TCCTAGTG others(374): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0006 | a0002c0006t0029 | a0002c0006t0029g0062 | 1 | 342 | 0.0029 | 381 | c.234 others(394): Show |
ZNF268 | ENSG00000090612.22 | transcript | ENST00000536435.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(375): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 4 | 0.2500 | 382 | c.322 others(399): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1052625 | A | AGAGGAGG others(375): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0007 | a0007c0021 | a0007c0021t0001 | a0007c0021t0001g0001 | 1 | 4 | 0.2500 | 382 | c.322 others(399): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 23/46 | chr19 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770602 | A | AATATAAA others(375): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 225 | 0.0089 | 382 | c.-10 others(393): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1042 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770621 | T | TTATATAT others(375): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | 382 | c.-11 others(393): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1061 | chr3 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(375): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0158 | 1 | 25 | 0.0400 | 382 | c.259 others(403): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTSL5_chr19_1500022_1518019 | 1500849 | A | AGGGGAAG others(375): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 30 | 0.0333 | 382 | c.*51 others(393): Show |
ADAMTSL5 | ENSG00000185761.11 | transcript | ENST00000330475.9 | protein_coding | 4172 | chr19 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167976200 | T | TGTGTGGG others(375): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 238 | 0.0042 | 382 | c.*62 others(393): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 4178 | chr6 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581275 | T | TACGTATA others(375): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 104 | 0.0096 | 382 | c.48- others(399): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77367840 | T | TATATTAT others(375): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0200 | 1 | 220 | 0.0045 | 382 | c.891 others(401): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(375): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0043 | 1 | 119 | 0.0084 | 382 | c.125 others(403): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690378 | C | CCCTCCCC others(375): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0158 | 1 | 270 | 0.0037 | 382 | c.512 others(399): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | chr2 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1824952 | T | TCCCCGCA others(375): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0092 | a0001c0092t0011 | a0001c0092t0011g0180 | 1 | 192 | 0.0052 | 382 | c.-48 others(397): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCACC others(375): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0054 | 1 | 5 | 0.2000 | 382 | c.39+ others(399): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112787520 | T | TACCTACT others(375): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0014 | a0014c0036 | a0014c0036t0064 | a0014c0036t0064g0204 | 1 | 191 | 0.0052 | 382 | c.162 others(399): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112787532 | T | TCACACCG others(375): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00642.hp2 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0022a0001c0001t0025others(41): Show | a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0024 others(70): Show |
73 | 239 | 0.3054 | 382 | c.162 others(399): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112787532 | T | TCACACCG others(375): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0209 | 1 | 167 | 0.0060 | 382 | c.162 others(399): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
AUTS2_chr7_69593475_70798506 | 70496452 | A | ACCACGTA others(375): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 76 | 0.0132 | 382 | c.690 others(401): Show |
AUTS2 | ENSG00000158321.19 | transcript | ENST00000342771.10 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374745 | A | AGGAAGGG others(375): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0066 | 1 | 161 | 0.0062 | 382 | c.784 others(397): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 374779 | A | AGTGGAGG others(375): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0050 | 1 | 181 | 0.0055 | 382 | c.784 others(397): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1080852 | G | GGTCCCTG others(375): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 324 | 0.0031 | 382 | c.*20 others(393): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 970 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410967 | C | CGTCACTG others(375): Show |
upstream_gene_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0168 | 1 | 316 | 0.0032 | 382 | c.-20 others(393): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1821 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411203 | C | CCGGATCC others(375): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0046 | 1 | 154 | 0.0065 | 382 | c.-22 others(393): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2057 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411304 | T | TCTGCTGG others(375): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0091 | a0001c0004t0091g0052 | 1 | 108 | 0.0093 | 382 | c.-23 others(393): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2158 | chr19 | TogoVar | |||||||
CAMSAP2_chr1_200733893_200865704 | 200816873 | C | CACACACG others(375): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0048 | 1 | 313 | 0.0032 | 382 | c.645 others(399): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |