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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRSX_chrX_2214506_2505976 | 2228241 | AGAGAGGG | A | intron_variant | MODIFIER | HG02074.hp1 NA19005.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0015 a0001c0001t0001g0016 others(1): Show |
4 | 43 | 0.0930 | -7 | c.805 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2282881 | GGGAGGGA | G | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0001a0008c0013t0007 | a0003c0003t0001g0031 a0008c0013t0007g0036 |
2 | 48 | 0.0417 | -7 | c.388 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2296673 | AGGAATAG | A | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02486.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0003others(1): Show | a0001c0001t0001a0002c0005t0004a0002c0005t0008others(2): Show | a0001c0001t0001g0022 a0002c0005t0004g0030 a0002c0005t0008g0007 others(2): Show |
5 | 48 | 0.1042 | -7 | c.287 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2330070 | CGGCGGGG | C | intron_variant | MODIFIER | HG02071.hp1 HG02630.hp1 HG02630.hp2 others(4): Show |
a0002a0003a0005others(1): Show | a0002c0002a0002c0005a0003c0003others(2): Show | a0002c0002t0003a0002c0002t0004a0002c0005t0008others(4): Show | a0002c0002t0003g0012 a0002c0002t0004g0028 a0002c0005t0008g0007 others(4): Show |
7 | 36 | 0.1944 | -7 | c.287 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12067148 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02145.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0005a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0005g0113 a0001c0001t0011g0101 a0001c0001t0012g0153 others(4): Show |
7 | 281 | 0.0249 | -7 | c.-18 others(18): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1805 | chr10 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG02056.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0227 a0001c0002t0001g0022 a0001c0002t0001g0023 others(17): Show |
20 | 41 | 0.4878 | -7 | c.108 others(26): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24578438 | AGATCATG | A | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01071.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 others(12): Show |
15 | 372 | 0.0403 | -7 | c.72- others(22): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 1/13 | chr4 | TogoVar | |||||||
DHX16_chr6_30648127_30678006 | 30653706 | ATCTTTCC | A | intron_variant | MODIFIER | HG02040.hp2 HG02896.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0126 a0001c0001t0001g0129 |
3 | 382 | 0.0079 | -7 | c.299 others(24): Show |
DHX16 | ENSG00000204560.10 | transcript | ENST00000376442.8 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
DHX16_chr6_30648127_30678006 | 30654057 | GCATGAGC | G | intron_variant | MODIFIER | NA18939.hp2 NA18968.hp2 NA18978.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0156 a0001c0001t0001g0166 others(2): Show |
12 | 382 | 0.0314 | -7 | c.299 others(24): Show |
DHX16 | ENSG00000204560.10 | transcript | ENST00000376442.8 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
DHX33_chr17_5435917_5473982 | 5464028 | TAAAAATA | T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00673.hp1 others(11): Show |
a0001a0014 | a0001c0002a0001c0003a0014c0013 | a0001c0002t0016a0001c0003t0002a0001c0003t0018others(2): Show | a0001c0002t0016g0173 a0001c0003t0002g0018 a0001c0003t0002g0040 others(7): Show |
14 | 363 | 0.0386 | -7 | c.290 others(22): Show |
DHX33 | ENSG00000005100.13 | transcript | ENST00000225296.8 | protein_coding | 1/11 | chr17 | TogoVar | |||||||
DHX34_chr19_47344315_47387704 | 47365232 | ATTTATTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00639.hp2 others(34): Show |
a0001a0005a0010others(1): Show | a0001c0002a0005c0007a0010c0032others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0010others(5): Show | a0001c0002t0003g0019 a0001c0002t0003g0036 a0001c0002t0003g0037 others(31): Show |
37 | 380 | 0.0974 | -7 | c.159 others(26): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 6/16 | chr19 | TogoVar | |||||||
DHX34_chr19_47344315_47387704 | 47378296 | TAGTGTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00639.hp2 others(38): Show |
a0001a0005a0006others(3): Show | a0001c0002a0005c0007a0006c0009others(3): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0010others(7): Show | a0001c0002t0003g0019 a0001c0002t0003g0036 a0001c0002t0003g0037 others(34): Show |
41 | 380 | 0.1079 | -7 | c.270 others(26): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DHX37_chr12_124941826_124994131 | 124988882 | CTCCGAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG02145.hp1 HG03098.hp2 others(1): Show |
a0001a0013 | a0001c0002a0001c0015a0001c0051others(1): Show | a0001c0002t0002a0001c0015t0003a0001c0051t0003others(1): Show | a0001c0002t0002g0016 a0001c0015t0003g0018 a0001c0051t0003g0017 others(1): Show |
4 | 368 | 0.0109 | -7 | c.106 others(20): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 1/26 | chr12 | TogoVar | |||||||
DHX8_chr17_43478975_43530670 | 43484233 | CGGAAGGA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(333): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(275): Show |
336 | 352 | 0.9545 | -7 | c.148 others(20): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DIABLO_chr12_122202668_122231052 | 122211077 | TAAAAAAA | T | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01934.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(4): Show |
7 | 100 | 0.0700 | -7 | c.524 others(24): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
DIABLO_chr12_122202668_122231052 | 122222586 | AAAAAATT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(126): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(50): Show |
129 | 378 | 0.3413 | -7 | c.183 others(24): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 2/5 | chr12 | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 96723916 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(31): Show |
34 | 107 | 0.3178 | -7 | c.133 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96765193 | GTTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(37): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(37): Show |
40 | 88 | 0.4545 | -7 | c.447 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96807944 | CAAAAAAA | C | intron_variant | MODIFIER | HG01099.hp1 HG02145.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0019 a0001c0001t0001g0066 a0001c0001t0001g0069 others(2): Show |
5 | 39 | 0.1282 | -7 | c.447 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97336150 | GGCCTACC | G | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016 | a0001c0001t0002g0140 a0001c0001t0016g0086 |
2 | 147 | 0.0136 | -7 | c.284 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | chrX | TogoVar | |||||||
DIAPH2_chrX_96679842_97609997 | 97408428 | ATTTACTG | A | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00738.hp1 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0019 others(68): Show |
71 | 147 | 0.4830 | -7 | c.314 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97570113 | TATATATA | T | intron_variant | MODIFIER | HG00673.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0057 a0001c0001t0008g0108 |
2 | 145 | 0.0138 | -7 | c.324 others(28): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 59775232 | GTTTTTGT | G | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0006g0080 a0001c0001t0008g0026 a0001c0001t0011g0154 others(1): Show |
4 | 206 | 0.0194 | -7 | c.316 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60023237 | TCTATTTC | T | intron_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG02040.hp1 others(16): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0013 others(16): Show |
19 | 206 | 0.0922 | -7 | c.627 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 5/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60138785 | GGGGAAGA | G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(4): Show |
7 | 59 | 0.1186 | -7 | c.181 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62904780 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02559.hp2 others(3): Show |
a0001a0023 | a0001c0001a0001c0017a0023c0031 | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(2): Show | a0001c0001t0001g0100 a0001c0001t0001g0109 a0001c0001t0010g0079 others(3): Show |
6 | 68 | 0.0882 | -7 | c.158 others(26): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024 a0002c0002t0001g0230 a0003c0003t0001g0021 others(54): Show |
66 | 318 | 0.2075 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46486089 | AAAGAACT | A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp2 others(9): Show |
a0001 | a0001c0006a0001c0007a0001c0022 | a0001c0006t0004a0001c0007t0005a0001c0022t0001 | a0001c0006t0004g0125 a0001c0007t0005g0126 a0001c0007t0005g0127 others(9): Show |
12 | 372 | 0.0323 | -7 | c.163 others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46506761 | TTTCTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp2 others(20): Show |
a0001a0003 | a0001c0006a0001c0012a0001c0013others(5): Show | a0001c0006t0004a0001c0006t0007a0001c0006t0012others(7): Show | a0001c0006t0004g0161 a0001c0006t0004g0176 a0001c0006t0007g0158 others(20): Show |
23 | 372 | 0.0618 | -7 | c.784 others(24): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 6/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50657223 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00597.hp1 others(86): Show |
a0001a0005a0006 | a0001c0001a0001c0006a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0034 others(86): Show |
89 | 181 | 0.4917 | -7 | c.302 others(24): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50735455 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00741.hp2 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0005a0007c0019 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(15): Show | a0001c0001t0006g0077 a0001c0001t0010g0089 a0001c0001t0010g0090 others(27): Show |
30 | 282 | 0.1064 | -7 | c.410 others(24): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 34/37 | chr12 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50742394 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01071.hp2 others(42): Show |
a0001a0003a0009 | a0001c0002a0003c0009a0009c0012 | a0001c0002t0003a0001c0002t0004a0001c0002t0013others(6): Show | a0001c0002t0003g0126 a0001c0002t0003g0127 a0001c0002t0003g0184 others(42): Show |
45 | 84 | 0.5357 | -7 | c.447 others(24): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 338875 | ACCTGCAC | A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00621.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0003g0085 a0001c0002t0001g0030 a0001c0002t0001g0052 others(15): Show |
18 | 88 | 0.2045 | -7 | c.358 others(26): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 29/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 379198 | CCCCCCCA | C | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01934.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0024 a0001c0001t0001g0079 a0001c0002t0001g0030 others(10): Show |
13 | 88 | 0.1477 | -7 | c.199 others(26): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 17/36 | chr10 | TogoVar | |||||||
DIPK1A_chr1_92837167_92966462 | 92959902 | ACTTTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 |
3 | 168 | 0.0179 | -7 | c.54+ others(22): Show |
DIPK1A | ENSG00000154511.12 | transcript | ENST00000370310.5 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2716731 | GAGAAAAA | G | 3_prime_UTR_variant | MODIFIER | HG01192.hp2 HG03041.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018a0001c0001t0022others(1): Show | a0001c0001t0016g0026 a0001c0001t0016g0073 a0001c0001t0018g0042 others(3): Show |
8 | 410 | 0.0195 | -7 | c.*47 others(16): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 2/2 | 472 | chr19 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232006857 | CACAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00733.hp2 others(80): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(13): Show | a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0166 others(80): Show |
83 | 302 | 0.2748 | -7 | c.-93 others(24): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232247613 | CCGCGGGG | C | intron_variant | MODIFIER | HG00741.hp1 HG01515.hp1 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0019 a0001c0001t0001g0288 a0001c0001t0001g0289 others(2): Show |
5 | 243 | 0.0206 | -7 | c.131 others(26): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 11/20 | chr2 | TogoVar | |||||||
DIS3L_chr15_66288568_66338898 | 66317344 | GGAAAAAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG03579.hp1 |
a0004 | a0004c0009 | a0004c0009t0011a0004c0009t0014 | a0004c0009t0011g0260 a0004c0009t0014g0261 a0004c0009t0014g0267 |
3 | 391 | 0.0077 | -7 | c.995 others(24): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 7/16 | chr15 | TogoVar | |||||||
DISC1_chr1_231621790_232046272 | 231863220 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0010others(13): Show | a0001c0001t0004g0038 a0001c0001t0008g0015 a0001c0001t0008g0037 others(14): Show |
17 | 24 | 0.7083 | -7 | c.198 others(28): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DISC1_chr1_231621790_232046272 | 231912740 | CTCTTCTT | C | intron_variant | MODIFIER | HG01496.hp1 HG04204.hp2 |
a0002 | a0002c0003a0002c0004 | a0002c0003t0002a0002c0004t0001 | a0002c0003t0002g0008 a0002c0004t0001g0003 |
2 | 26 | 0.0769 | -7 | c.198 others(28): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DKK3_chr11_11958036_12013626 | 11978494 | CTTCTTCT | C | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp2 HG01517.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0190 others(14): Show |
17 | 414 | 0.0411 | -7 | c.436 others(26): Show |
DKK3 | ENSG00000050165.19 | transcript | ENST00000683431.1 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
DLAT_chr11_112020408_112069404 | 112036201 | GTTTTTTT | G | intron_variant | MODIFIER | HG01261.hp2 HG02135.hp1 HG02145.hp2 others(11): Show |
a0002a0005a0011 | a0002c0002a0005c0005a0011c0012 | a0002c0002t0002a0005c0005t0005a0011c0012t0002 | a0002c0002t0002g0221 a0002c0002t0002g0223 a0002c0002t0002g0231 others(11): Show |
14 | 78 | 0.1795 | -7 | c.788 others(24): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13083202 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02258.hp1 others(5): Show |
a0001a0002a0013others(2): Show | a0001c0041a0002c0002a0013c0026others(2): Show | a0001c0041t0010a0002c0002t0010a0002c0002t0015others(4): Show | a0001c0041t0010g0010 a0002c0002t0010g0013 a0002c0002t0010g0096 others(5): Show |
8 | 12 | 0.6667 | -7 | c.*26 others(18): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 158 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13118004 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0015others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(44): Show | a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0059 others(118): Show |
121 | 167 | 0.7246 | -7 | c.134 others(26): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13158741 | CCCCCCCG | C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0009a0001c0004t0003a0002c0002t0010others(7): Show | a0001c0001t0009g0088 a0001c0004t0003g0014 a0001c0004t0003g0160 others(8): Show |
11 | 209 | 0.0526 | -7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13188834 | TATATATA | T | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02976.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0004a0008c0010 | a0001c0001t0009a0001c0004t0003a0001c0004t0005others(1): Show | a0001c0001t0009g0009 a0001c0004t0003g0018 a0001c0004t0005g0157 others(1): Show |
4 | 209 | 0.0191 | -7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13291444 | TTGAGATG | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0020others(4): Show | a0001c0001t0009a0002c0002t0002a0002c0002t0041others(5): Show | a0001c0001t0009g0107 a0002c0002t0002g0058 a0002c0002t0002g0060 others(11): Show |
14 | 210 | 0.0667 | -7 | c.134 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13321536 | CAAAAAAG | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0002c0002others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0089 others(52): Show |
55 | 135 | 0.4074 | -7 | c.131 others(28): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13395027 | TATCTATC | T | intron_variant | MODIFIER | HG00639.hp1 HG03579.hp2 HG04115.hp1 |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0032 | a0001c0001t0001a0002c0002t0002a0006c0032t0005 | a0001c0001t0001g0129 a0002c0002t0002g0092 a0006c0032t0005g0159 |
3 | 210 | 0.0143 | -7 | c.117 others(26): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 3/17 | chr8 | TogoVar |