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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DCC_chr18_52335197_53540899 | 53090698 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0020 | 1 | 114 | 0.0088 | -22 | c.126 others(43): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53128866 | CACACATA others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp1 HG02602.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0001a0002c0013others(2): Show | a0001c0003t0012a0002c0001t0018a0002c0013t0001others(2): Show | a0001c0003t0012g0082a0001c0003t0012g0100a0002c0001t0018g0034others(3): Show | 6 | 114 | 0.0526 | -22 | c.126 others(43): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53128868 | CACATATA others(15): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0088 | 1 | 114 | 0.0088 | -22 | c.126 others(43): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53307889 | GTGTGTAT others(15): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02922.hp2 |
a0003 | a0003c0006 | a0003c0006t0009a0003c0006t0010 | a0003c0006t0009g0046a0003c0006t0010g0001 | 2 | 114 | 0.0175 | -22 | c.205 others(41): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53307893 | GTATGTAT others(15): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00733.hp1 others(8): Show |
a0001a0002a0006 | a0001c0003a0001c0007a0002c0004others(3): Show | a0001c0003t0003a0001c0003t0013a0001c0003t0028others(5): Show | a0001c0003t0003g0041a0001c0003t0013g0075a0001c0003t0028g0076others(8): Show | 11 | 114 | 0.0965 | -22 | c.205 others(41): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53340055 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01106.hp1 others(9): Show |
a0001a0009 | a0001c0003a0009c0017 | a0001c0003t0001a0001c0003t0004a0001c0003t0012others(3): Show | a0001c0003t0001g0058a0001c0003t0004g0008a0001c0003t0004g0052others(9): Show | 12 | 114 | 0.1053 | -22 | c.235 others(39): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCC_chr18_52335197_53540899 | 53529028 | TCTCTCTC others(15): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0012 | a0002c0012t0011 | a0002c0012t0011g0037 | 1 | 114 | 0.0088 | -22 | c.425 others(41): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 28/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCDC1_chr11_30858603_31374739 | 30888141 | AGAAAGAA others(15): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp2 |
a0003a0017 | a0003c0004a0017c0027 | a0003c0004t0002a0017c0027t0002 | a0003c0004t0002g0151a0017c0027t0002g0100 | 2 | 152 | 0.0132 | -22 | c.508 others(41): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 36/38 | chr11 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30978779 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01074.hp2 others(46): Show |
a0001a0002a0005others(9): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(46): Show | 49 | 152 | 0.3224 | -22 | c.259 others(43): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 20/38 | chr11 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 31372868 | TGCCAGTA others(15): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 152 | 0.0066 | -22 | c.-33 others(33): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 3130 | chr11 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3703576 | GCCCCGTC others(15): Show |
G | 5_prime_UTR_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0050 | 1 | 324 | 0.0031 | -22 | c.-15 others(31): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 1/11 | 135 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
DCDC2_chr6_24166755_24363059 | 24185688 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(41): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0009others(18): Show | a0001c0001t0006g0030a0001c0001t0006g0059a0001c0001t0006g0070others(41): Show | 44 | 216 | 0.2037 | -22 | c.102 others(41): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
DCHS2_chr4_154226742_154496799 | 154417194 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG01257.hp1 HG01975.hp2 NA20805.hp2 |
a0005a0008a0052 | a0005c0006a0008c0084a0052c0032 | a0005c0006t0001a0008c0084t0010a0052c0032t0010 | a0005c0006t0001g0036a0008c0084t0010g0127a0052c0032t0010g0034 | 3 | 192 | 0.0156 | -22 | c.205 others(43): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 1/19 | chr4 | TogoVar | ||||||
DCHS2_chr4_154226742_154496799 | 154488886 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03834.hp1 |
a0004a0010 | a0004c0004a0010c0007 | a0004c0004t0004a0010c0007t0004 | a0004c0004t0004g0003a0004c0004t0004g0004a0010c0007t0004g0005 | 3 | 192 | 0.0156 | -22 | c.205 others(39): Show |
DCHS2 | ENSG00000197410.14 | transcript | ENST00000357232.10 | protein_coding | 1/19 | chr4 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35982429 | AGAGGGGG others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00597.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0008a0001c0001t0002g0139a0001c0001t0003g0001others(24): Show | 27 | 230 | 0.1174 | -22 | c.724 others(41): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150194022 | GACACACA others(15): Show |
G | intron_variant | MODIFIER | HG03453.hp1 HG03486.hp1 NA19043.hp1 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0007a0002c0002t0015a0002c0002t0018 | a0001c0009t0007g0030a0002c0002t0015g0031a0002c0002t0018g0115 | 3 | 116 | 0.0259 | -22 | c.859 others(37): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
DCLK3_chr3_36707421_36769553 | 36760904 | TTTACCAA others(15): Show |
T | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0284 | 1 | 422 | 0.0024 | -22 | c.82+ others(37): Show |
DCLK3 | ENSG00000163673.8 | transcript | ENST00000636136.2 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
DCPS_chr11_126299060_126355005 | 126325744 | GAGGTGCT others(15): Show |
G | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0023 | 1 | 342 | 0.0029 | -22 | c.377 others(39): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DCPS_chr11_126299060_126355005 | 126330709 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0013others(3): Show | a0001c0001t0003g0232a0001c0001t0011g0277a0001c0001t0013g0096others(4): Show | 8 | 342 | 0.0234 | -22 | c.377 others(37): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DCPS_chr11_126299060_126355005 | 126330711 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0006 | a0001c0006t0040 | a0001c0006t0040g0228 | 1 | 342 | 0.0029 | -22 | c.377 others(37): Show |
DCPS | ENSG00000110063.10 | transcript | ENST00000263579.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DCTN5_chr16_23636466_23682472 | 23645083 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0005a0001c0003t0022others(2): Show | a0001c0001t0001g0163a0001c0003t0005g0004a0001c0003t0005g0029others(6): Show | 10 | 314 | 0.0319 | -22 | c.117 others(39): Show |
DCTN5 | ENSG00000166847.10 | transcript | ENST00000300087.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DCT_chr13_94431811_94484682 | 94465968 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00741.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0119a0001c0001t0002g0121a0001c0001t0002g0129others(8): Show | 12 | 336 | 0.0357 | -22 | c.697 others(37): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
DCT_chr13_94431811_94484682 | 94472521 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0083a0001c0001t0007g0213 | 2 | 336 | 0.0060 | -22 | c.296 others(39): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
DCT_chr13_94431811_94484682 | 94472552 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 336 | 0.0030 | -22 | c.296 others(39): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
DCX_chrX_111288779_111417192 | 111342339 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0047a0001c0001t0048 | a0001c0001t0014g0048a0001c0001t0047g0035a0001c0001t0048g0036 | 3 | 183 | 0.0164 | -22 | c.706 others(39): Show |
DCX | ENSG00000077279.21 | transcript | ENST00000636035.2 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DDAH1_chr1_85313485_85470159 | 85468952 | AGCTACAG others(15): Show |
A | upstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 416 | 0.0024 | -22 | c.-39 others(33): Show |
DDAH1 | ENSG00000153904.21 | transcript | ENST00000284031.13 | protein_coding | 3794 | chr1 | TogoVar | ||||||
DDB1_chr11_61294451_61338105 | 61316946 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG02273.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0120 | 2 | 180 | 0.0111 | -22 | c.122 others(39): Show |
DDB1 | ENSG00000167986.15 | transcript | ENST00000301764.12 | protein_coding | 10/26 | chr11 | TogoVar | ||||||
DDR2_chr1_162627464_162792405 | 162673592 | TGTATGTG others(15): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02615.hp2 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0006a0001c0002t0014others(1): Show | a0001c0001t0002g0215a0001c0002t0006g0124a0001c0002t0014g0084others(2): Show | 5 | 302 | 0.0166 | -22 | c.-28 others(41): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DDR2_chr1_162627464_162792405 | 162673594 | TATGTGTG others(15): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01515.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0002g0183a0001c0001t0003g0138a0001c0001t0003g0139others(34): Show | 37 | 302 | 0.1225 | -22 | c.-28 others(41): Show |
DDR2 | ENSG00000162733.19 | transcript | ENST00000367921.8 | protein_coding | 2/17 | chr1 | TogoVar | ||||||
DDX10_chr11_108660069_108945927 | 108910728 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG01943.hp2 HG02630.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0004a0001c0001t0001g0141a0001c0001t0001g0315others(4): Show | 7 | 320 | 0.0219 | -22 | c.230 others(41): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DDX11_chr12_31068860_31109799 | 31108879 | ATGTGTGT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02074.hp1 NA19068.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0027 | 2 | 418 | 0.0048 | -22 | c.*50 others(33): Show |
DDX11 | ENSG00000013573.17 | transcript | ENST00000542838.6 | protein_coding | 4081 | chr12 | TogoVar | ||||||
DDX24_chr14_94043287_94086202 | 94060449 | AGGATTCG others(15): Show |
A | frameshift_variant | HIGH | NA18988.hp1 | a0010 | a0010c0024 | a0010c0024t0005 | a0010c0024t0005g0201 | 1 | 371 | 0.0027 | -22 | c.154 others(31): Show |
p.His others(5): Show |
DDX24 | ENSG00000089737.19 | transcript | ENST00000621632.5 | protein_coding | 5/9 | 1650/5573 | 1540/2580 | 514/859 | chr14 | TogoVar | ||
DDX25_chr11_125899508_125933843 | 125902748 | AGCAATCG others(15): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0257 | 1 | 448 | 0.0022 | -22 | c.-17 others(33): Show |
DDX25 | ENSG00000109832.14 | transcript | ENST00000263576.11 | protein_coding | 1759 | chr11 | TogoVar | ||||||
DDX31_chr9_132587997_132674983 | 132632239 | TGTACACA others(15): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02896.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0004a0001c0003t0001a0003c0004t0002 | a0001c0001t0004g0005a0001c0001t0004g0167a0001c0001t0004g0210others(5): Show | 9 | 402 | 0.0224 | -22 | c.144 others(39): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 14/19 | chr9 | TogoVar | ||||||
DDX43_chr6_73389828_73422566 | 73412656 | TGTGTGTG others(15): Show |
T | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 394 | 0.0025 | -22 | c.136 others(39): Show |
DDX43 | ENSG00000080007.8 | transcript | ENST00000370336.5 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DDX46_chr5_134753779_134836121 | 134755356 | CTTGAGAC others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp2 HG02895.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0013g0165a0001c0001t0013g0166a0001c0001t0018g0167others(2): Show | 5 | 342 | 0.0146 | -22 | c.-35 others(33): Show |
DDX46 | ENSG00000145833.16 | transcript | ENST00000452510.7 | protein_coding | 3422 | chr5 | TogoVar | ||||||
DDX54_chr12_113152173_113190478 | 113188787 | CTTTTTTT others(15): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 306 | 0.0033 | -22 | c.-33 others(33): Show |
DDX54 | ENSG00000123064.13 | transcript | ENST00000306014.10 | protein_coding | 3310 | chr12 | TogoVar | ||||||
DDX55_chr12_123597099_123625943 | 123620580 | TTATATAT others(15): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0008 | a0002c0008t0038 | a0002c0008t0038g0081 | 1 | 304 | 0.0033 | -22 | c.*46 others(31): Show |
DDX55 | ENSG00000111364.16 | transcript | ENST00000238146.9 | protein_coding | 14/14 | 467 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
DDX60L_chr4_168351735_168485492 | 168420457 | TACACATA others(15): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0030 | a0030c0031 | a0030c0031t0004 | a0030c0031t0004g0117 | 1 | 268 | 0.0037 | -22 | c.239 others(37): Show |
DDX60L | ENSG00000181381.15 | transcript | ENST00000682922.1 | protein_coding | 17/37 | chr4 | TogoVar | ||||||
DDX60_chr4_168211294_168323752 | 168297360 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01081.hp1 others(11): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0140a0001c0001t0001g0144a0001c0001t0001g0175others(11): Show | 14 | 270 | 0.0519 | -22 | c.724 others(39): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 676180 | ACCTGACA others(15): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0274 | 1 | 345 | 0.0029 | -22 | c.125 others(41): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 9/11 | chr11 | TogoVar | ||||||
DEFB106B_chr8_7477504_7491400 | 7483972 | AGTATACT others(15): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 180 | 0.0056 | -22 | c.50- others(37): Show |
DEFB106B | ENSG00000187082.2 | transcript | ENST00000335479.2 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
DEFB108B_chr11_71828200_71842710 | 71831519 | CCCGTCCG others(15): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00597.hp2 others(197): Show |
a0001a0002a0003others(2): Show | a0001c0006a0002c0003a0003c0002others(2): Show | a0001c0006t0001a0002c0003t0001a0003c0002t0001others(2): Show | a0001c0006t0001g0011a0001c0006t0001g0027a0001c0006t0001g0054others(42): Show | 200 | 440 | 0.4546 | -22 | c.-16 others(33): Show |
DEFB108B | ENSG00000184276.3 | transcript | ENST00000328698.2 | protein_coding | 1680 | chr11 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450552 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | NA18965.hp1 NA18993.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0119 | 2 | 372 | 0.0054 | -22 | c.*37 others(31): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 296 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450560 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0034a0001c0001t0003g0130 | 2 | 372 | 0.0054 | -22 | c.*38 others(31): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 304 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450562 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 372 | 0.0027 | -22 | c.*38 others(31): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 306 | chr20 | TogoVar | ||||||
DEFB123_chr20_31435632_31455257 | 31450564 | ATATATAT others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 372 | 0.0027 | -22 | c.*39 others(31): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 308 | chr20 | TogoVar | ||||||
DEFB134_chr8_11988174_12005752 | 12001948 | TTCTTTCT others(15): Show |
T | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 448 | 0.0022 | -22 | c.-13 others(33): Show |
DEFB134 | ENSG00000205882.9 | transcript | ENST00000382205.6 | protein_coding | 1197 | chr8 | TogoVar | ||||||
DEFB1_chr8_6865592_6882936 | 6870378 | AAAAAACC others(15): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0014a0001c0001t0001g0026a0001c0001t0001g0041others(2): Show | 10 | 478 | 0.0209 | -22 | c.*28 others(31): Show |
DEFB1 | ENSG00000164825.4 | transcript | ENST00000297439.4 | protein_coding | 213 | chr8 | TogoVar | ||||||
DEGS1_chr1_224178240_224198441 | 224184970 | TACACACA others(15): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01167.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0001t0016a0001c0002t0004 | a0001c0001t0012g0067a0001c0001t0012g0068a0001c0001t0016g0161others(9): Show | 17 | 426 | 0.0399 | -22 | c.82+ others(37): Show |
DEGS1 | ENSG00000143753.14 | transcript | ENST00000323699.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |