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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHTKD1_chr10_12063954_12128221 | 12117846 | ATCTCCCC others(23): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 374 | 0.0027 | -30 | c.240 others(46): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DHX15_chr4_24522475_24589554 | 24547877 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 374 | 0.0027 | -30 | c.124 others(47): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
DHX15_chr4_24522475_24589554 | 24547879 | CTCTCTCT others(23): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0185others(1): Show | 4 | 374 | 0.0107 | -30 | c.124 others(47): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 6/13 | chr4 | TogoVar | ||||||
DHX36_chr3_154267546_154329487 | 154312852 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01978.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0160a0002c0002t0001g0161 | 2 | 366 | 0.0055 | -30 | c.604 others(47): Show |
DHX36 | ENSG00000174953.14 | transcript | ENST00000496811.6 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
DHX37_chr12_124941826_124994131 | 124961226 | ACGCACAC others(23): Show |
A | intron_variant | MODIFIER | NA20300.hp2 | a0003 | a0003c0005 | a0003c0005t0011 | a0003c0005t0011g0349 | 1 | 370 | 0.0027 | -30 | c.204 others(47): Show |
DHX37 | ENSG00000150990.9 | transcript | ENST00000308736.7 | protein_coding | 15/26 | chr12 | TogoVar | ||||||
DHX57_chr2_38792729_38880934 | 38844629 | CAAAAAAA others(23): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0156a0001c0003t0001g0173 | 2 | 284 | 0.0070 | -30 | c.222 others(49): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 11/23 | chr2 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96854598 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 147 | 0.0068 | -30 | c.448 others(49): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96962466 | TACATATA others(23): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 147 | 0.0068 | -30 | c.193 others(49): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97343158 | AGATACCA others(23): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0130 | 1 | 147 | 0.0068 | -30 | c.284 others(49): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | chrX | TogoVar | ||||||
DIP2A_chr21_46453891_46575015 | 46495220 | TTCTCTTC others(23): Show |
T | intron_variant | MODIFIER | HG01515.hp2 HG01884.hp2 HG01978.hp1 others(12): Show |
a0001a0002a0005 | a0001c0005a0001c0010a0001c0027others(2): Show | a0001c0005t0004a0001c0005t0008a0001c0005t0017others(4): Show | a0001c0005t0004g0275a0001c0005t0004g0276a0001c0005t0004g0277others(12): Show | 15 | 374 | 0.0401 | -30 | c.284 others(47): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
DIP2A_chr21_46453891_46575015 | 46572034 | GGTTTGTC others(23): Show |
G | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 374 | 0.0027 | -30 | c.*44 others(41): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 2020 | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579644 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01433.hp2 HG02056.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0128a0001c0001t0001g0154a0001c0001t0001g0164others(2): Show | 5 | 284 | 0.0176 | -30 | c.101 others(49): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 666590 | GGCCCGTG others(23): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(62): Show | 65 | 88 | 0.7386 | -30 | c.85+ others(47): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 685157 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | HG02300.hp1 HG03579.hp2 NA19007.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0030a0001c0002t0003g0082a0001c0003t0002g0032 | 3 | 88 | 0.0341 | -30 | c.85+ others(45): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 685159 | AAAATATA others(23): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02602.hp1 |
a0001 | a0001c0013a0001c0020 | a0001c0013t0002a0001c0020t0008 | a0001c0013t0002g0035a0001c0020t0008g0074 | 2 | 88 | 0.0227 | -30 | c.85+ others(45): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 685161 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG02602.hp2 HG03942.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0003a0001c0023t0003 | a0001c0001t0003g0070a0001c0023t0003g0071 | 2 | 88 | 0.0227 | -30 | c.85+ others(45): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | ||||||
DIPK1B_chr9_136707572_136729742 | 136719880 | GGCGCAGG others(23): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG03195.hp1 others(1): Show |
a0002 | a0002c0003a0002c0006 | a0002c0003t0001a0002c0006t0004 | a0002c0003t0001g0124a0002c0006t0004g0062a0002c0006t0004g0123others(1): Show | 4 | 422 | 0.0095 | -30 | c.199 others(47): Show |
DIPK1B | ENSG00000165716.11 | transcript | ENST00000371692.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
DIPK2A_chr3_143966823_143997368 | 143983819 | GTTTTGTA others(23): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02970.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0009a0001c0002t0009a0001c0002t0026others(1): Show | a0001c0001t0009g0228a0001c0001t0009g0229a0001c0001t0009g0232others(6): Show | 10 | 408 | 0.0245 | -30 | c.658 others(47): Show |
DIPK2A | ENSG00000181744.9 | transcript | ENST00000315691.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DIRAS2_chr9_90604832_90647824 | 90606068 | GCTAAGCG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 440 | 0.0023 | -30 | c.*71 others(41): Show |
DIRAS2 | ENSG00000165023.7 | transcript | ENST00000375765.5 | protein_coding | 3763 | chr9 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232077995 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 | 1 | 304 | 0.0033 | -30 | c.367 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DIS3L2_chr2_231956713_232342192 | 232086171 | ATATACGT others(23): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG02818.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0019 | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0214a0001c0001t0001g0228others(4): Show | 7 | 304 | 0.0230 | -30 | c.367 others(47): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DISP3_chr1_11474155_11542551 | 11523565 | GAGCAGGG others(23): Show |
G | intron_variant | MODIFIER | NA18971.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0199 | 1 | 358 | 0.0028 | -30 | c.236 others(47): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DISP3_chr1_11474155_11542551 | 11523625 | GAGCAGGG others(23): Show |
G | intron_variant | MODIFIER | HG02523.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0251 | 1 | 358 | 0.0028 | -30 | c.236 others(47): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIXDC1_chr11_111932343_112027653 | 111950426 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG02280.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0014a0001c0001t0003g0038others(7): Show | 11 | 278 | 0.0396 | -30 | c.60+ others(47): Show |
DIXDC1 | ENSG00000150764.14 | transcript | ENST00000440460.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
DKK2_chr4_106916802_107041313 | 106962491 | ATGTGTGT others(23): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01256.hp2 HG02056.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0089a0001c0001t0004g0063a0001c0001t0004g0073others(16): Show | 19 | 218 | 0.0872 | -30 | c.223 others(49): Show |
DKK2 | ENSG00000155011.9 | transcript | ENST00000285311.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188815 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0006 | a0002c0006t0007 | a0002c0006t0007g0197 | 1 | 212 | 0.0047 | -30 | c.134 others(51): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188819 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0011 | a0001c0011t0020 | a0001c0011t0020g0202 | 1 | 212 | 0.0047 | -30 | c.134 others(51): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13188821 | ATATATGT others(23): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0155 | 1 | 212 | 0.0047 | -30 | c.134 others(51): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 5/17 | chr8 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13479802 | AAAGAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp2 HG01975.hp1 others(23): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0003c0029others(2): Show | a0001c0001t0003a0003c0003t0004a0003c0003t0006others(6): Show | a0001c0001t0003g0023a0003c0003t0004g0131a0003c0003t0004g0134others(23): Show | 26 | 212 | 0.1226 | -30 | c.102 others(51): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
DLG1_chr3_197037560_197303612 | 197090001 | AAGTCATA others(23): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0094 | 2 | 332 | 0.0060 | -30 | c.166 others(47): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 15/24 | chr3 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 83503369 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0004 | 1 | 14 | 0.0714 | -30 | c.219 others(51): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 21/27 | chr11 | TogoVar | ||||||
DLG2_chr11_83450173_85632344 | 84502226 | CCTTCCTT others(23): Show |
C | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 14 | 0.0714 | -30 | c.519 others(49): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 7/27 | chr11 | TogoVar | ||||||
DLG3_chrX_70439835_70510490 | 70509585 | GGCTTGGT others(23): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0151 | 2 | 278 | 0.0072 | -30 | c.*73 others(41): Show |
DLG3 | ENSG00000082458.12 | transcript | ENST00000374360.8 | protein_coding | 4096 | chrX | TogoVar | ||||||
DLG5_chr10_77785791_77931755 | 77814461 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01243.hp2 HG01261.hp2 others(24): Show |
a0001a0005a0014others(1): Show | a0001c0005a0001c0006a0001c0007others(5): Show | a0001c0005t0001a0001c0006t0001a0001c0006t0005others(7): Show | a0001c0005t0001g0124a0001c0005t0001g0163a0001c0005t0001g0165others(24): Show | 27 | 331 | 0.0816 | -30 | c.402 others(49): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 20/31 | chr10 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3688614 | GACACACA others(23): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 80 | 0.0125 | -30 | c.159 others(51): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3772344 | CTCTCTTT others(23): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0045 | 1 | 80 | 0.0125 | -30 | c.117 others(51): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1027795 | CGGGTGTC others(23): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0001 | 1 | 40 | 0.0250 | -30 | c.73+ others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1028201 | ATTATTCT others(23): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02895.hp2 HG03486.hp2 |
a0001a0002 | a0001c0009a0002c0006a0002c0007 | a0001c0009t0012a0002c0006t0021a0002c0007t0008 | a0001c0009t0012g0006a0002c0006t0021g0014a0002c0007t0008g0040 | 3 | 40 | 0.0750 | -30 | c.73+ others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1350739 | TGTGTGTG others(23): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG02698.hp1 |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0011 | a0002c0001t0003g0017a0002c0001t0011g0001 | 2 | 40 | 0.0500 | -30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1350863 | TGTGGAAA others(23): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 40 | 0.0250 | -30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1351052 | GCCGTGCA others(23): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG03516.hp1 |
a0001a0002 | a0001c0011a0002c0006 | a0001c0011t0015a0002c0006t0021 | a0001c0011t0015g0002a0002c0006t0021g0014 | 2 | 40 | 0.0500 | -30 | c.106 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1630882 | CGGCGGGA others(23): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0017others(5): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0003t0006g0033others(7): Show | 10 | 40 | 0.2500 | -30 | c.159 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1630956 | AGTGTCCC others(23): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01496.hp1 HG02071.hp1 others(2): Show |
a0002 | a0002c0001a0002c0004 | a0002c0001t0011a0002c0001t0020a0002c0004t0003others(2): Show | a0002c0001t0011g0001a0002c0001t0020g0024a0002c0004t0003g0009others(2): Show | 5 | 40 | 0.1250 | -30 | c.159 others(49): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1643048 | CCCTCGAC others(23): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG03516.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0001c0003t0006a0002c0001t0005 | a0001c0003t0001g0026a0001c0003t0006g0033a0002c0001t0005g0028 | 3 | 40 | 0.0750 | -30 | c.181 others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1643389 | CCCTCGAC others(23): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02895.hp2 HG02922.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0001a0002c0007 | a0001c0010t0025a0002c0001t0002a0002c0001t0019others(1): Show | a0001c0010t0025g0012a0002c0001t0002g0032a0002c0001t0019g0030others(1): Show | 4 | 40 | 0.1000 | -30 | c.181 others(51): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36310178 | AAAAAAGA others(23): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0105 | 2 | 144 | 0.0139 | -30 | c.-30 others(49): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36317265 | TTCTTTCT others(23): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02922.hp2 HG02970.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0018others(1): Show | a0001c0001t0002g0122a0001c0001t0002g0123a0001c0001t0011g0007others(2): Show | 5 | 144 | 0.0347 | -30 | c.-30 others(51): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DLGAP4_chr20_36301339_36533633 | 36380593 | AAGAGAGA others(23): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02257.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(1): Show | a0001c0001t0001g0092a0001c0001t0011g0063a0001c0001t0013g0130others(2): Show | 5 | 144 | 0.0347 | -30 | c.-73 others(49): Show |
DLGAP4 | ENSG00000080845.19 | transcript | ENST00000339266.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634402 | TTTCTTTC others(23): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0056 | a0056c0116 | a0056c0116t0001 | a0056c0116t0001g0041 | 1 | 282 | 0.0036 | -30 | c.654 others(49): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DMBT1_chr10_122555754_122648736 | 122634412 | TCTCTCTC others(23): Show |
T | intron_variant | MODIFIER | NA18966.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0101 | 1 | 282 | 0.0036 | -30 | c.654 others(49): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 52/55 | chr10 | TogoVar |