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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHX57_chr2_38792729_38880934 | 38853044 | G | GTTTTC | intron_variant | MODIFIER | HG01361.hp2 NA18522.hp2 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0267a0001c0001t0007g0273a0001c0001t0007g0274 | 3 | 284 | 0.0106 | 5 | c.203 others(24): Show |
DHX57 | ENSG00000163214.21 | transcript | ENST00000457308.6 | protein_coding | 9/23 | chr2 | TogoVar | ||||||
DHX8_chr17_43478975_43530670 | 43513709 | C | CTTTTT | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007a0001c0001t0002g0107a0001c0001t0002g0108others(5): Show | 10 | 354 | 0.0283 | 5 | c.264 others(22): Show |
DHX8 | ENSG00000067596.12 | transcript | ENST00000262415.8 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHX9_chr1_182834347_182892982 | 182868520 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007a0001c0003t0001g0046a0001c0003t0001g0176others(3): Show | 9 | 276 | 0.0326 | 5 | c.155 others(24): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DHX9_chr1_182834347_182892982 | 182869623 | A | AGTCTT | intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01884.hp1 others(30): Show |
a0001 | a0001c0001a0001c0004a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0020a0001c0001t0001g0039others(26): Show | 33 | 276 | 0.1196 | 5 | c.155 others(24): Show |
DHX9 | ENSG00000135829.17 | transcript | ENST00000367549.4 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DIABLO_chr12_122202668_122231052 | 122211077 | T | TAAAAA | intron_variant | MODIFIER | HG02145.hp2 HG03017.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0098others(3): Show | 6 | 380 | 0.0158 | 5 | c.524 others(22): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
DIABLO_chr12_122202668_122231052 | 122213507 | G | GAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(150): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(89): Show | 153 | 380 | 0.4026 | 5 | c.523 others(22): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141526704 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01074.hp1 others(26): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0021a0001c0001t0001g0287a0001c0001t0001g0288others(26): Show | 29 | 336 | 0.0863 | 5 | c.327 others(22): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 24/27 | chr5 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141566895 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(121): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0012a0002c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0003a0001c0001t0001g0019a0001c0001t0001g0020others(119): Show | 124 | 336 | 0.3691 | 5 | c.248 others(24): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 18/27 | chr5 | TogoVar | ||||||
DIAPH1_chr5_141510021_141624000 | 141566926 | A | AAAACC | intron_variant | MODIFIER | HG02280.hp1 HG03209.hp2 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0126a0001c0001t0002g0136others(2): Show | 5 | 336 | 0.0149 | 5 | c.248 others(24): Show |
DIAPH1 | ENSG00000131504.18 | transcript | ENST00000389054.8 | protein_coding | 18/27 | chr5 | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96749145 | A | AAATAT | intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0004t0001 | a0001c0001t0011g0001a0001c0001t0011g0002a0001c0004t0001g0140 | 3 | 147 | 0.0204 | 5 | c.343 others(22): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96754923 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 147 | 0.0068 | 5 | c.343 others(22): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96773244 | C | CCCCAA | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136 | 1 | 147 | 0.0068 | 5 | 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 | 96806646 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp1 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0087a0001c0001t0003g0107a0001c0001t0004g0108others(4): Show | 7 | 147 | 0.0476 | 5 | 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 | C | CAAAAA | intron_variant | MODIFIER | HG02132.hp1 NA18970.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0035a0001c0001t0002g0043a0001c0001t0007g0049 | 3 | 147 | 0.0204 | 5 | 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 | 96836718 | T | TATATA | intron_variant | MODIFIER | HG01109.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0023a0001c0009t0001 | a0001c0001t0023g0070a0001c0009t0001g0007 | 2 | 147 | 0.0136 | 5 | c.448 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96871469 | C | CAAAAA | intron_variant | MODIFIER | HG01928.hp1 NA19009.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0001 | a0001c0001t0002g0123a0001c0001t0002g0128a0001c0004t0001g0140 | 3 | 147 | 0.0204 | 5 | c.448 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96882959 | C | CAAAAA | intron_variant | MODIFIER | HG02135.hp1 HG02647.hp1 HG04115.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0120a0001c0001t0001g0127a0001c0001t0001g0129others(4): Show | 7 | 147 | 0.0476 | 5 | c.587 others(22): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96914124 | A | ATATAT | intron_variant | MODIFIER | NA18965.hp1 NA18982.hp1 NA18986.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0003c0008t0002 | a0001c0001t0001g0026a0001c0001t0001g0093a0001c0001t0001g0096others(2): Show | 5 | 147 | 0.0340 | 5 | c.732 others(22): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96944484 | A | AAGTTT | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0138a0001c0001t0001g0142a0001c0001t0002g0004others(14): Show | 17 | 147 | 0.1157 | 5 | c.144 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 13/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 96980998 | C | CAAAAA | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 147 | 0.0068 | 5 | c.205 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97011891 | C | CAAAAA | intron_variant | MODIFIER | NA18906.hp1 NA18906.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0003 | a0001c0002t0004g0013a0001c0003t0003g0145 | 2 | 147 | 0.0136 | 5 | c.205 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97047493 | T | TTAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG03139.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0142a0001c0001t0002g0004a0001c0001t0012g0003others(4): Show | 7 | 147 | 0.0476 | 5 | c.205 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 17/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97129089 | A | ATCTTT | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01433.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0023a0001c0001t0001g0031a0001c0001t0001g0033others(15): Show | 18 | 147 | 0.1225 | 5 | c.259 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97129146 | C | CTTTCT | intron_variant | MODIFIER | HG00280.hp1 HG01071.hp2 HG01255.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0024a0001c0001t0002g0030others(6): Show | 9 | 147 | 0.0612 | 5 | c.259 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97135193 | C | CTTTGT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(43): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0019others(43): Show | 46 | 147 | 0.3129 | 5 | c.259 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97145340 | A | AGTAGT | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 1 | 147 | 0.0068 | 5 | c.271 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97146007 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0001t0001g0037others(7): Show | 10 | 147 | 0.0680 | 5 | c.271 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97149730 | C | CAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02258.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0004t0001 | a0001c0001t0002g0022a0001c0001t0003g0085a0001c0004t0001g0140 | 3 | 147 | 0.0204 | 5 | c.271 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97176505 | G | GTTTGT | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 147 | 0.0068 | 5 | c.271 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97252716 | G | GTGTTT | intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG01243.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0002g0139a0001c0001t0003g0025a0001c0001t0008g0021others(8): Show | 11 | 147 | 0.0748 | 5 | c.284 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97297604 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0083 | 1 | 147 | 0.0068 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97300931 | T | TAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG02015.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0010a0001c0001t0001g0019a0001c0001t0002g0115others(1): Show | 4 | 147 | 0.0272 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97305838 | A | AGAAAG | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97312864 | T | TCAAAA | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 147 | 0.0068 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97325543 | G | GTTATT | intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG02015.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0057a0001c0001t0002g0032a0001c0001t0002g0115others(5): Show | 8 | 147 | 0.0544 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97334998 | C | CAAAAA | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 147 | 0.0068 | 5 | c.284 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97354615 | C | CCACCT | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0013a0001c0002t0021 | a0001c0001t0003g0107a0001c0001t0013g0141a0001c0002t0021g0076 | 3 | 147 | 0.0204 | 5 | c.300 others(24): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97364764 | T | TTTTTG | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0143 | 1 | 147 | 0.0068 | 5 | c.300 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97368899 | C | CTTTTT | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01256.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0060a0001c0001t0001g0116a0001c0001t0001g0142others(7): Show | 10 | 147 | 0.0680 | 5 | c.301 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97464297 | T | TAAAAA | intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01099.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0014a0001c0001t0001g0020a0001c0001t0001g0029others(28): Show | 31 | 147 | 0.2109 | 5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97476968 | A | ATATAT | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 147 | 0.0068 | 5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97553273 | T | TTAAGA | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0019a0001c0001t0001g0033a0001c0001t0001g0035others(59): Show | 62 | 147 | 0.4218 | 5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97568115 | C | CAAAAA | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 147 | 0.0068 | 5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 97570123 | T | TATATA | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0076 | 1 | 147 | 0.0068 | 5 | c.324 others(26): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 26/26 | chrX | TogoVar | ||||||
DIAPH2_chrX_96679842_97609997 | 97607515 | C | CCTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0018others(128): Show | 131 | 147 | 0.8912 | 5 | c.*81 others(16): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 2519 | chrX | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59697459 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp2 HG02735.hp2 NA18955.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111a0001c0002t0001g0175a0001c0002t0001g0180others(3): Show | 6 | 208 | 0.0289 | 5 | c.332 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59728264 | T | TTTTAA | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01928.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0009others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0004t0002others(2): Show | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(13): Show | 16 | 208 | 0.0769 | 5 | c.331 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59729808 | A | ATTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01928.hp2 HG02559.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0033a0001c0001t0002g0096a0001c0001t0003g0023others(7): Show | 10 | 208 | 0.0481 | 5 | c.331 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59741703 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG03195.hp2 others(2): Show |
a0001a0008 | a0001c0001a0001c0010a0008c0016 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0006g0207a0001c0001t0008g0002a0001c0001t0011g0116others(2): Show | 5 | 208 | 0.0240 | 5 | c.331 others(26): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 27/27 | chr13 | TogoVar | ||||||
DIAPH3_chr13_59660583_60168928 | 59802664 | A | ATTTTT | intron_variant | MODIFIER | HG03540.hp2 NA18612.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0006a0001c0006t0002 | a0001c0001t0002g0088a0001c0001t0002g0129a0001c0001t0006g0087others(1): Show | 4 | 208 | 0.0192 | 5 | c.316 others(24): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 25/27 | chr13 | TogoVar |