regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 2304202 | T | TGGATGGA others(6): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | 13 | c.287 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2317256 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02630.hp2 NA18943.hp1 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0003a0003c0003t0002others(1): Show | a0001c0001t0001g0023a0002c0002t0003g0050a0003c0003t0002g0013others(1): Show | 4 | 50 | 0.0800 | 13 | c.287 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2328079 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0007 | a0007c0009 | a0007c0009t0013 | a0007c0009t0013g0005 | 1 | 50 | 0.0200 | 13 | c.287 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2334170 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01496.hp1 HG02004.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0003a0003c0003t0002others(1): Show | a0001c0001t0001g0023a0002c0002t0003g0008a0003c0003t0002g0043others(1): Show | 4 | 50 | 0.0800 | 13 | c.287 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2370590 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02074.hp1 NA18966.hp1 NA19066.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0010 | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0012t0010g0015 | 3 | 50 | 0.0600 | 13 | c.286 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2465824 | A | AAAAAAGA others(6): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0034 | 1 | 50 | 0.0200 | 13 | c.109 others(32): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12091411 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18985.hp1 NA18985.hp2 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0007 | a0001c0001t0001g0258a0001c0001t0002g0123a0002c0005t0007g0368 | 3 | 374 | 0.0080 | 13 | c.988 others(26): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHTKD1_chr10_12063954_12128221 | 12095812 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01433.hp1 HG02148.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0008a0003c0004t0020 | a0003c0004t0001g0162a0003c0004t0001g0170a0003c0004t0008g0166others(1): Show | 4 | 374 | 0.0107 | 13 | c.135 others(32): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHTKD1_chr10_12063954_12128221 | 12100285 | C | CTGTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(99): Show |
a0002a0010a0016 | a0002c0002a0002c0005a0002c0018others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(14): Show | a0002c0002t0001g0001a0002c0002t0001g0005a0002c0002t0001g0009others(98): Show | 102 | 374 | 0.2727 | 13 | c.175 others(28): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GCTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01167.hp1 HG03225.hp1 |
a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0203a0003c0003t0006g0204 | 2 | 374 | 0.0054 | 13 | c.175 others(28): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12100287 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02717.hp2 others(5): Show |
a0002a0003a0011 | a0002c0002a0003c0003a0003c0013others(1): Show | a0002c0002t0002a0003c0003t0002a0003c0003t0006others(3): Show | a0002c0002t0002g0077a0003c0003t0002g0178a0003c0003t0006g0152others(5): Show | 8 | 374 | 0.0214 | 13 | c.175 others(28): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GCCCCCCC others(6): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18991.hp1 NA19063.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0035 | a0001c0001t0002g0316a0002c0002t0002g0058a0002c0002t0035g0011 | 3 | 374 | 0.0080 | 13 | c.*66 others(24): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00733.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0046a0001c0001t0001g0080others(5): Show | 8 | 374 | 0.0214 | 13 | c.108 others(32): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24574205 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0137a0001c0001t0001g0161 | 3 | 374 | 0.0080 | 13 | c.507 others(30): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 2/13 | chr4 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47829315 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 266 | 0.0038 | 13 | c.366 others(28): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | chr3 | TogoVar | ||||||
DHX30_chr3_47798138_47855193 | 47837099 | A | AGAGGCTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(130): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(125): Show | 133 | 266 | 0.5000 | 13 | c.367 others(30): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DHX34_chr19_47344315_47387704 | 47364315 | A | AGTCCTGG others(6): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 382 | 0.0026 | 13 | c.159 others(32): Show |
DHX34 | ENSG00000134815.19 | transcript | ENST00000328771.9 | protein_coding | 6/16 | chr19 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154291134 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0184 | 1 | 366 | 0.0027 | 13 | c.181 others(32): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 15/24 | chr3 | TogoVar | ||||||
DHX37_chr12_124941826_124994131 | 124990211 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp2 others(27): Show |
a0002a0004a0010others(1): Show | a0002c0003a0002c0004a0002c0011others(6): Show | a0002c0003t0001a0002c0003t0018a0002c0004t0002others(11): Show | a0002c0003t0001g0305a0002c0003t0001g0311a0002c0003t0001g0320others(26): Show | 30 | 370 | 0.0811 | 13 | c.-11 others(24): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 1081 | chr12 | TogoVar | ||||||
DHX38_chr16_72088847_72117912 | 72115618 | A | ATTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 380 | 0.0026 | 13 | c.*31 others(24): Show |
DHX38 | ENSG00000140829.12 | transcript | ENST00000268482.8 | protein_coding | 2707 | chr16 | TogoVar | ||||||
DHX38_chr16_72088847_72117912 | 72115622 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG03139.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0006a0001c0002t0001g0077 | 3 | 380 | 0.0079 | 13 | c.*31 others(24): Show |
DHX38 | ENSG00000140829.12 | transcript | ENST00000268482.8 | protein_coding | 2711 | chr16 | TogoVar | ||||||
DHX8_chr17_43478975_43530670 | 43486076 | T | TGCCTGTA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(109): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0004 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0013others(91): Show | 112 | 354 | 0.3164 | 13 | c.148 others(30): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHX8_chr17_43478975_43530670 | 43511456 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01070.hp2 others(41): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0037a0001c0001t0001g0134others(38): Show | 44 | 354 | 0.1243 | 13 | c.250 others(32): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0045a0001c0002t0001g0058a0001c0002t0001g0059others(5): Show | 8 | 276 | 0.0290 | 13 | c.155 others(32): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIABLO_chr12_122202668_122231052 | 122226935 | T | TGAAATCT others(6): Show |
upstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 380 | 0.0026 | 13 | c.-92 others(22): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 884 | chr12 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141526702 | G | GTTTGTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 |
a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0007 | 2 | 336 | 0.0060 | 13 | c.327 others(30): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 24/27 | chr5 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96718336 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 147 | 0.0068 | 13 | c.133 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96806646 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 147 | 0.0068 | 13 | c.447 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96807944 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0146 | 1 | 147 | 0.0068 | 13 | c.447 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96882959 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 147 | 0.0068 | 13 | c.587 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96939668 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 147 | 0.0068 | 13 | c.132 others(30): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97047542 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0007 | 1 | 147 | 0.0068 | 13 | c.205 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97090298 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 147 | 0.0068 | 13 | c.224 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97240605 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0145 | 1 | 147 | 0.0068 | 13 | c.272 others(32): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300931 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG03130.hp1 HG03540.hp2 others(8): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0047a0001c0001t0001g0053others(8): Show | 11 | 147 | 0.0748 | 13 | c.284 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97570123 | T | TATTAGAA others(6): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 147 | 0.0068 | 13 | c.324 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97589027 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 147 | 0.0068 | 13 | c.324 others(34): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59697491 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0144 | 1 | 208 | 0.0048 | 13 | c.332 others(34): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTAT others(6): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 208 | 0.0048 | 13 | c.316 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTAT others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03942.hp1 NA18986.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0011a0001c0006t0002 | a0001c0001t0001g0060a0001c0001t0001g0181a0001c0001t0011g0116others(1): Show | 4 | 208 | 0.0192 | 13 | c.316 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802667 | A | ATTATTTT others(6): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0061 | 2 | 208 | 0.0096 | 13 | c.316 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59905342 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0046 | 1 | 208 | 0.0048 | 13 | c.236 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 20/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59917889 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0145a0001c0013t0001g0204 | 2 | 208 | 0.0096 | 13 | c.217 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 18/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59993702 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0001 | a0001c0001t0002g0101a0001c0001t0002g0103a0001c0001t0002g0104others(3): Show | 6 | 208 | 0.0289 | 13 | c.101 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 9/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60052959 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01884.hp1 HG01891.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0002others(2): Show | a0001c0001t0001g0165a0001c0001t0001g0199a0001c0001t0002g0197others(4): Show | 7 | 208 | 0.0337 | 13 | c.496 others(32): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 4/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 60105099 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02040.hp1 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0003g0022a0001c0001t0003g0023a0001c0001t0003g0028others(10): Show | 13 | 208 | 0.0625 | 13 | c.390 others(30): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 3/27 | chr13 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62904780 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02080.hp1 HG02165.hp1 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0021a0003c0003t0001g0022a0003c0003t0001g0026others(6): Show | 12 | 320 | 0.0375 | 13 | c.158 others(32): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 6/15 | chr20 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62929692 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02896.hp2 HG02897.hp1 |
a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0114a0006c0008t0005g0115a0006c0008t0005g0122 | 3 | 320 | 0.0094 | 13 | c.-34 others(24): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3188 | chr20 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62929692 | A | AAAAAAAT others(6): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0006 | a0006c0008 | a0006c0008t0005 | a0006c0008t0005g0121 | 1 | 320 | 0.0031 | 13 | c.-34 others(24): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 3188 | chr20 | TogoVar | ||||||
DIMT1_chr5_62382254_62408905 | 62389485 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01952.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0025a0001c0001t0003g0065a0001c0001t0004g0013others(3): Show | 12 | 404 | 0.0297 | 13 | c.900 others(28): Show |
DIMT1 | ENSG00000086189.11 | transcript | ENST00000199320.9 | protein_coding | 11/11 | chr5 | TogoVar |