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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDA1_chr19_17304563_17328298 | 17315337 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0240 | 1 | 388 | 0.0026 | -42 | c.137 others(57): Show |
DDA1 | ENSG00000130311.11 | transcript | ENST00000359866.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DDB1_chr11_61294451_61338105 | 61316946 | GATATATA others(35): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00741.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0128 a0001c0001t0001g0129 others(2): Show |
6 | 180 | 0.0333 | -42 | c.122 others(59): Show |
DDB1 | ENSG00000167986.15 | transcript | ENST00000301764.12 | protein_coding | 10/26 | chr11 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132148964 | CCACACCC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG01891.hp1 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0018 | a0001c0001t0001a0002c0018t0018 | a0001c0001t0001g0001 a0002c0018t0018g0027 |
2 | 334 | 0.0060 | -42 | c.-47 others(53): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4646 | chr12 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132149096 | CCACACCC others(35): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 | 1 | 334 | 0.0030 | -42 | c.-48 others(53): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4778 | chr12 | TogoVar | |||||||
DDX60_chr4_168211294_168323752 | 168297340 | AAGAAAGA others(35): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02257.hp1 HG02818.hp1 others(7): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0184 a0001c0001t0001g0189 a0001c0001t0001g0260 others(7): Show |
10 | 270 | 0.0370 | -42 | c.724 others(59): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 407921 | ATCTCCGG others(35): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(72): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0007 | a0001c0001t0001a0001c0011t0001a0005c0007t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(31): Show |
75 | 367 | 0.2044 | -42 | c.337 others(57): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DENND4C_chr9_19225693_19379281 | 19238482 | CCCCCTTC others(35): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0003 | a0002c0003t0032 | a0002c0003t0032g0020 | 1 | 292 | 0.0034 | -42 | c.-18 others(59): Show |
DENND4C | ENSG00000137145.21 | transcript | ENST00000434457.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DENR_chr12_122747824_122776064 | 122775944 | TTTCAAAA others(35): Show |
T | downstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 364 | 0.0028 | -42 | c.*68 others(53): Show |
DENR | ENSG00000139726.11 | transcript | ENST00000280557.11 | protein_coding | 4881 | chr12 | TogoVar | |||||||
DEPDC5_chr22_31749019_31913033 | 31904048 | CCATCTTC others(35): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 204 | 0.0049 | -42 | c.443 others(61): Show |
DEPDC5 | ENSG00000100150.20 | transcript | ENST00000651528.2 | protein_coding | 41/42 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14211339 | TTTTACTC others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG04115.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0137 a0001c0002t0012g0120 |
2 | 148 | 0.0135 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211425 | TTTTACTC others(35): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0015 | a0001c0015t0032 | a0001c0015t0032g0019 | 1 | 148 | 0.0068 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211576 | ATTTACTC others(35): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01993.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0013 | a0001c0002t0002a0001c0002t0009a0001c0003t0005others(1): Show | a0001c0002t0002g0020 a0001c0002t0009g0064 a0001c0003t0005g0130 others(1): Show |
4 | 148 | 0.0270 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211662 | ATTTACTC others(35): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0049 | 1 | 148 | 0.0068 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211918 | ATTTACTC others(35): Show |
A | intron_variant | MODIFIER | HG01978.hp1 NA18984.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0002 | a0001c0001t0007g0132 a0001c0004t0002g0131 |
2 | 148 | 0.0135 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212048 | ATTTACTC others(35): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0089 | 1 | 148 | 0.0068 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212322 | TTTTACTC others(35): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0030a0001c0003t0035 | a0001c0002t0030g0092 a0001c0003t0035g0126 |
2 | 148 | 0.0135 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212365 | TTTTACTC others(35): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0036a0001c0004t0001 | a0001c0003t0036g0050 a0001c0004t0001g0127 |
2 | 148 | 0.0135 | -42 | c.212 others(63): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233354894 | CGGGCGGG others(35): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0249 | 1 | 336 | 0.0030 | -42 | c.156 others(57): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42181816 | CTGCTGGC others(35): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp1 HG01257.hp2 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0001c0016others(3): Show | a0001c0002t0001a0001c0002t0019a0001c0002t0021others(15): Show | a0001c0002t0001g0043 a0001c0002t0001g0108 a0001c0002t0001g0144 others(27): Show |
30 | 316 | 0.0949 | -42 | c.153 others(61): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50447341 | TATTATAT others(35): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG02523.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0011 | a0001c0002t0001g0078 a0001c0002t0001g0191 a0001c0002t0001g0192 others(2): Show |
5 | 248 | 0.0202 | -42 | c.645 others(61): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | |||||||
DHODH_chr16_72003744_72032659 | 72020321 | GTATATGT others(35): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0008 | a0008c0006 | a0008c0006t0017 | a0008c0006t0017g0176 | 1 | 414 | 0.0024 | -42 | c.518 others(57): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079973 | GAGAGAGA others(35): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0234 a0001c0002t0002g0056 |
2 | 398 | 0.0050 | -42 | c.-59 others(59): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24547869 | CTCTCTCT others(35): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG01981.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(1): Show |
4 | 374 | 0.0107 | -42 | c.124 others(59): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24547877 | CTCTCTCT others(35): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 | 1 | 374 | 0.0027 | -42 | c.124 others(59): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50579644 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0179 | 1 | 284 | 0.0035 | -42 | c.101 others(61): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 358642 | GATGGGAG others(35): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02922.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0007a0001c0021a0001c0022 | a0001c0007t0002a0001c0021t0002a0001c0022t0003 | a0001c0007t0002g0076 a0001c0007t0002g0077 a0001c0021t0002g0081 others(1): Show |
4 | 88 | 0.0455 | -42 | c.279 others(59): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 22/36 | chr10 | TogoVar | |||||||
DIPK2A_chr3_143966823_143997368 | 143978602 | CTATATAT others(35): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0257 | 1 | 408 | 0.0025 | -42 | c.657 others(59): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232241638 | ATCAGGAA others(35): Show |
A | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 304 | 0.0033 | -42 | c.131 others(61): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 11/20 | chr2 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83503369 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 14 | 0.0714 | -42 | c.219 others(63): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 21/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 84844093 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 14 | 0.0714 | -42 | c.357 others(63): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 6/27 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1450172 | TCGGGCAG others(35): Show |
T | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0012 | a0001c0012t0004 | a0001c0012t0004g0036 | 1 | 40 | 0.0250 | -42 | c.107 others(61): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DMBT1_chr10_122555754_122648736 | 122634394 | TTCTTTCT others(35): Show |
T | intron_variant | MODIFIER | NA19088.hp2 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0246 | 1 | 282 | 0.0036 | -42 | c.654 others(61): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32042144 | TATATACA others(35): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 126 | 0.0079 | -42 | c.643 others(63): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32112113 | TGACAAAG others(35): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0092 | 1 | 126 | 0.0079 | -42 | c.643 others(65): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33009309 | TGTGTGTA others(35): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 HG02976.hp2 others(2): Show |
a0002a0005a0018others(2): Show | a0002c0009a0005c0057a0018c0061others(2): Show | a0002c0009t0002a0005c0057t0001a0018c0061t0001others(2): Show | a0002c0009t0002g0002 a0005c0057t0001g0109 a0018c0061t0001g0003 others(2): Show |
5 | 126 | 0.0397 | -42 | c.93+ others(59): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(35): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0088 | 1 | 416 | 0.0024 | -42 | c.*24 others(51): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 242 | chr19 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168029 | TCCCACTC others(35): Show |
T | upstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 398 | 0.0025 | -42 | c.-15 others(53): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1417 | chr19 | TogoVar | |||||||
DNAH7_chr2_195732703_196073837 | 195957537 | GTTGTATA others(35): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(119): Show |
a0001a0002a0003others(22): Show | a0001c0006a0002c0002a0002c0054others(29): Show | a0001c0006t0001a0002c0002t0001a0002c0054t0001others(32): Show | a0001c0006t0001g0064 a0002c0002t0001g0119 a0002c0002t0001g0120 others(119): Show |
122 | 256 | 0.4766 | -42 | c.289 others(58): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 18/64 | chr2 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11807619 | CAGCCTGT others(35): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0127 | a0001c0127t0001 | a0001c0127t0001g0052 | 1 | 178 | 0.0056 | -42 | c.842 others(58): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 43/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAI4_chr1_66807885_66929856 | 66836220 | GAGAGAGA others(35): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 264 | 0.0038 | -42 | c.158 others(59): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | |||||||
DNAI4_chr1_66807885_66929856 | 66836224 | GAGAGAGA others(35): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0183 a0002c0002t0001g0184 |
2 | 264 | 0.0076 | -42 | c.158 others(59): Show |
DNAI4 | ENSG00000152763.17 | transcript | ENST00000371026.8 | protein_coding | 10/16 | chr1 | TogoVar | |||||||
DNAJB12_chr10_72327863_72359919 | 72356829 | GATATATA others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp1 others(68): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(1): Show | a0001c0001t0001g0127 a0001c0001t0002g0002 a0001c0001t0002g0003 others(20): Show |
71 | 292 | 0.2432 | -42 | c.-19 others(53): Show |
DNAJB12 | ENSG00000148719.16 | transcript | ENST00000444643.8 | protein_coding | 1911 | chr10 | TogoVar | |||||||
DNAJC12_chr10_67791669_67843188 | 67819737 | AGGAAGGA others(35): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 384 | 0.0026 | -42 | c.157 others(59): Show |
DNAJC12 | ENSG00000108176.15 | transcript | ENST00000225171.7 | protein_coding | 2/4 | chr10 | TogoVar | |||||||
DNER_chr2_229352629_229719555 | 229388592 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02895.hp1 HG02976.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0001a0001c0002t0001a0004c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(4): Show |
7 | 176 | 0.0398 | -42 | c.172 others(59): Show |
DNER | ENSG00000187957.8 | transcript | ENST00000341772.5 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
DNLZ_chr9_136354483_136368744 | 136355042 | GGAGGGGT others(35): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(239): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0024 others(45): Show |
242 | 418 | 0.5790 | -42 | c.*69 others(53): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 4440 | chr9 | TogoVar | |||||||
DNLZ_chr9_136354483_136368744 | 136355126 | TAGGGGTA others(35): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03130.hp2 others(5): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0004a0001c0001t0036a0001c0001t0040others(2): Show | a0001c0001t0004g0005 a0001c0001t0036g0072 a0001c0001t0040g0046 others(2): Show |
8 | 418 | 0.0191 | -42 | c.*68 others(53): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 4356 | chr9 | TogoVar | |||||||
DNLZ_chr9_136354483_136368744 | 136355497 | CCTGGGGG others(35): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00738.hp1 others(16): Show |
a0001a0003a0008others(2): Show | a0001c0001a0003c0003a0008c0009others(2): Show | a0001c0001t0003a0001c0001t0047a0003c0003t0003others(3): Show | a0001c0001t0003g0058 a0001c0001t0047g0047 a0003c0003t0003g0003 others(4): Show |
19 | 418 | 0.0455 | -42 | c.*64 others(53): Show |
DNLZ | ENSG00000213221.5 | transcript | ENST00000371738.4 | protein_coding | 3985 | chr9 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800694 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0191 | 1 | 412 | 0.0024 | -42 | c.373 others(57): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 141162 | TGGGGGGG others(35): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 339 | 0.0030 | -42 | c.*62 others(53): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 1626 | chr17 | TogoVar | |||||||
DOCK10_chr2_224760090_225047468 | 224870332 | TTTCTTAG others(35): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0152 | 1 | 172 | 0.0058 | -42 | c.125 others(61): Show |
DOCK10 | ENSG00000135905.21 | transcript | ENST00000258390.12 | protein_coding | 11/55 | chr2 | TogoVar |