| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GCNT2_chr6_10516351_10634368 | 10520791 | TCCCCAGT others(1511): Show |
T | splice_donor_variant others(4): Show |
HIGH | HG02976.hp2 NA19043.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0008g0198 |
3 | 322 | 0.0093 | -1518 | c.-10 others(14): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113067804 | GGAGGCAG others(1511): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0014 | a0004c0014t0025 | a0004c0014t0025g0100 | 1 | 114 | 0.0088 | -1518 | c.881 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| PPP2R2C_chr4_6315581_6477614 | 6420263 | TTGCCCAG others(1511): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0234 |
3 | 296 | 0.0101 | -1518 | c.71- others(17): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
| TLN2_chr15_62385550_62849631 | 62663348 | TAATAGTT others(1511): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp1 HG02886.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0008a0001c0010others(1): Show | a0001c0002t0004a0001c0008t0004a0001c0010t0001others(1): Show | a0001c0002t0004g0083 a0001c0008t0004g0086 a0001c0010t0001g0035 others(1): Show |
4 | 142 | 0.0282 | -1518 | c.788 others(17): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 9/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| PSG7_chr19_42919132_42942207 | 42935895 | CACACACA others(1510): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG03831.hp2 | a0009 | a0009c0028 | a0009c0028t0013 | a0009c0028t0013g0219 | 1 | 414 | 0.0024 | -1517 | c.-33 others(11): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
| S1PR4_chr19_3173769_3185332 | 3173999 | CCTCATGG others(1510): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00558.hp1 others(43): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(1): Show | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0012t0001g0000 others(1): Show |
46 | 415 | 0.1108 | -1517 | c.-47 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4769 | chr19 | TogoVar | |||||||
| ARL15_chr5_53878942_54315573 | 54090916 | ATGAGTCA others(1509): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160 a0001c0001t0002g0168 |
2 | 204 | 0.0098 | -1516 | c.462 others(19): Show |
ARL15 | ENSG00000185305.12 | transcript | ENST00000504924.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
| GATD1_chr11_762222_782487 | 780972 | TCAGGAGT others(1508): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0048 | 1 | 428 | 0.0023 | -1515 | c.-50 others(11): Show |
GATD1 | ENSG00000177225.17 | transcript | ENST00000319863.13 | protein_coding | 3486 | chr11 | TogoVar | |||||||
| IPCEF1_chr6_154149496_154361803 | 154298855 | GGGAAGCT others(1508): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG01071.hp1 HG01169.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0108 others(34): Show |
37 | 262 | 0.1412 | -1515 | c.-61 others(18): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
| KCNAB1_chr3_156115578_156543605 | 156374387 | ATTCCTGA others(1508): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01261.hp1 HG01346.hp1 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0027 others(50): Show |
53 | 124 | 0.4274 | -1515 | c.276 others(19): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | chr3 | TogoVar | |||||||
| PCYT1A_chr3_196229368_196292726 | 196254595 | TCTGCCTT others(1506): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0255 | 1 | 308 | 0.0032 | -1513 | c.217 others(17): Show |
PCYT1A | ENSG00000161217.12 | transcript | ENST00000431016.6 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 990791 | GCCCAGAC others(1505): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 40 | 0.0250 | -1512 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806538 | CCCCCTCA others(1505): Show |
C | upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 318 | 0.0031 | -1512 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2654 | chr2 | TogoVar | |||||||
| CATSPERD_chr19_5715637_5783734 | 5722919 | GGGCTCAC others(1504): Show |
G | intron_variant | MODIFIER | HG03704.hp1 HG04228.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0049 a0002c0002t0001g0050 |
2 | 334 | 0.0060 | -1511 | c.72- others(14): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765569 | AGCCCCGG others(1504): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0230 | 1 | 410 | 0.0024 | -1511 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
| DLG5_chr10_77785791_77931755 | 77903533 | GCTTGAAC others(1504): Show |
G | intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0075 | 1 | 330 | 0.0030 | -1511 | c.304 others(19): Show |
DLG5 | ENSG00000151208.17 | transcript | ENST00000372391.7 | protein_coding | 1/31 | chr10 | TogoVar | |||||||
| LONP1_chr19_5686834_5725146 | 5722919 | GGGCTCAC others(1504): Show |
G | upstream_gene_variant | MODIFIER | HG03704.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 |
2 | 384 | 0.0052 | -1511 | c.-42 others(11): Show |
LONP1 | ENSG00000196365.12 | transcript | ENST00000360614.8 | protein_coding | 2774 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1394646 | ATATTGAG others(1503): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0005 | 1 | 40 | 0.0250 | -1510 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SPAG16_chr2_213279464_214415501 | 214009979 | GTGCATAA others(1503): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp1 HG02559.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0048 a0001c0001t0001g0066 a0001c0001t0001g0071 others(15): Show |
18 | 86 | 0.2093 | -1510 | c.140 others(19): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| CEP68_chr2_65051416_65092004 | 65058491 | TTTTTCCT others(1502): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0131 a0001c0009t0001g0132 |
2 | 358 | 0.0056 | -1509 | c.-47 others(17): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277660 | AGAGGGAG others(1502): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 45 | 0.0222 | -1509 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| ITGAV_chr2_186585056_186685901 | 186591751 | GATTAGAT others(1502): Show |
G | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 306 | 0.0033 | -1509 | c.185 others(17): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ATXN7L1_chr7_105599772_105881599 | 105749121 | TAATGTTA others(1501): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02602.hp1 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0012others(1): Show | a0001c0001t0003g0142 a0001c0001t0008g0063 a0001c0001t0012g0064 others(1): Show |
4 | 250 | 0.0160 | -1508 | c.355 others(19): Show |
ATXN7L1 | ENSG00000146776.15 | transcript | ENST00000419735.8 | protein_coding | 3/11 | chr7 | TogoVar | |||||||
| STAU1_chr20_49108339_49193334 | 49125569 | AGGCGCGG others(1501): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0131 | 1 | 363 | 0.0028 | -1508 | c.610 others(16): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | |||||||
| CCNG1_chr5_163432595_163450016 | 163434776 | CTTGCCCA others(1500): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(111): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0006a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(16): Show |
114 | 420 | 0.2714 | -1507 | c.-30 others(11): Show |
CCNG1 | ENSG00000113328.20 | transcript | ENST00000340828.7 | protein_coding | 2818 | chr5 | TogoVar | |||||||
| FAM43A_chr3_194680883_194694037 | 194692531 | CTAATTTT others(1499): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0000 | 1 | 440 | 0.0023 | -1506 | c.*44 others(11): Show |
FAM43A | ENSG00000185112.6 | transcript | ENST00000329759.6 | protein_coding | 3495 | chr3 | TogoVar | |||||||
| CFAP46_chr10_132803392_132947570 | 132822424 | GTGATGTG others(1497): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0065 | a0065c0040 | a0065c0040t0001 | a0065c0040t0001g0149 | 1 | 242 | 0.0041 | -1504 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
| HDAC4_chr2_239043168_239406020 | 239281296 | AACACACC others(1497): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02602.hp2 HG02683.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0001 | a0001c0001t0001g0136 a0001c0001t0025g0132 a0001c0002t0001g0182 |
3 | 240 | 0.0125 | -1504 | c.23- others(17): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | |||||||
| ABLIM1_chr10_114426112_114663275 | 114510306 | GACTGAAA others(1495): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 NA19240.hp1 |
a0003 | a0003c0008a0003c0023 | a0003c0008t0012a0003c0023t0012 | a0003c0008t0012g0030 a0003c0008t0012g0139 a0003c0023t0012g0134 |
3 | 254 | 0.0118 | -1502 | c.895 others(19): Show |
ABLIM1 | ENSG00000099204.22 | transcript | ENST00000533213.7 | protein_coding | 6/22 | chr10 | TogoVar | |||||||
| ABR_chr17_998519_1184981 | 1064023 | ACTGTTGT others(1494): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01192.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0223 a0001c0001t0004g0335 a0001c0001t0004g0336 others(8): Show |
11 | 335 | 0.0328 | -1501 | c.118 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765724 | CGGGCTGA others(1494): Show |
C | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0377 | 1 | 409 | 0.0024 | -1501 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| KRTAP4-7_chr17_41079150_41090144 | 41081449 | GTAGTACT others(1494): Show |
G | upstream_gene_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 1 | 440 | 0.0023 | -1501 | c.-27 others(11): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 2700 | chr17 | TogoVar | |||||||
| RAD21L1_chr20_1221044_1260876 | 1258769 | TAACTGGT others(1494): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01981.hp2 HG02148.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0003 a0004c0005t0001g0122 a0004c0005t0001g0143 |
4 | 362 | 0.0110 | -1501 | c.*43 others(11): Show |
RAD21L1 | ENSG00000244588.6 | transcript | ENST00000683101.1 | protein_coding | 2894 | chr20 | TogoVar | |||||||
| TENM4_chr11_78647829_79446030 | 79179512 | AAGATGAT others(1494): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA20752.hp1 |
a0001 | a0001c0002a0001c0043 | a0001c0002t0045a0001c0043t0024 | a0001c0002t0045g0058 a0001c0043t0024g0015 |
2 | 92 | 0.0217 | -1501 | c.-16 others(21): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 3/33 | chr11 | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1493): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02622.hp2 HG02723.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0012a0002c0002a0002c0009others(2): Show | a0001c0012t0008a0001c0012t0030a0002c0002t0004others(3): Show | a0001c0012t0008g0032 a0001c0012t0030g0163 a0001c0012t0030g0312 others(9): Show |
12 | 369 | 0.0325 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1493): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03579.hp1 |
a0004 | a0004c0005 | a0004c0005t0007 | a0004c0005t0007g0063 a0004c0005t0007g0064 |
2 | 297 | 0.0067 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765486 | TTAGGAAG others(1493): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(127): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0013a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0070 others(113): Show |
130 | 337 | 0.3858 | -1500 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146144932 | CACAGCAC others(1493): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0070 | a0070c0066 | a0070c0066t0006 | a0070c0066t0006g0139 | 1 | 282 | 0.0035 | -1500 | c.-16 others(10): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 129 | chr1 | TogoVar | |||||||
| SNX22_chr15_64146731_64162481 | 64147848 | GGCACCTG others(1493): Show |
G | upstream_gene_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0003 | 1 | 348 | 0.0029 | -1500 | c.-39 others(11): Show |
SNX22 | ENSG00000157734.14 | transcript | ENST00000325881.9 | protein_coding | 3882 | chr15 | TogoVar | |||||||
| STIM2_chr4_26855841_27030381 | 26954329 | TTGCTGAG others(1493): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01884.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(9): Show | a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0005g0015 others(18): Show |
21 | 334 | 0.0629 | -1500 | c.283 others(17): Show |
STIM2 | ENSG00000109689.20 | transcript | ENST00000467087.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765745 | GGGGGGAG others(1492): Show |
G | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 410 | 0.0024 | -1499 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316247 | CGGCAGCA others(1491): Show |
C | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 474 | 0.0021 | -1498 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070037 | CCCCCAGT others(1491): Show |
C | intron_variant | MODIFIER | NA18967.hp2 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0116 |
2 | 115 | 0.0174 | -1498 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| COL21A1_chr6_56051590_56252580 | 56198727 | ATAGCTCA others(1490): Show |
A | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 262 | 0.0038 | -1497 | c.-38 others(19): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1490): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG02273.hp1 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0005a0002c0009 | a0001c0001t0001a0002c0005t0006a0002c0009t0007 | a0001c0001t0001g0203 a0001c0001t0001g0250 a0002c0005t0006g0231 others(1): Show |
4 | 432 | 0.0093 | -1497 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| SERPINB3_chr18_63650197_63666893 | 63657462 | GTCTGGAA others(1490): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18953.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0049 | 1 | 470 | 0.0021 | -1497 | c.352 others(14): Show |
SERPINB3 | ENSG00000057149.16 | transcript | ENST00000283752.10 | protein_coding | 5/8 | chr18 | TogoVar | |||||||
| CD82_chr11_44560663_44625358 | 44621615 | CGGCTGTG others(1489): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 NA19091.hp2 |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0008t0004 | a0002c0002t0003g0347 a0002c0008t0004g0090 |
2 | 370 | 0.0054 | -1496 | c.*24 others(11): Show |
CD82 | ENSG00000085117.12 | transcript | ENST00000227155.9 | protein_coding | 1258 | chr11 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1489): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00621.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0091 a0001c0001t0001g0199 a0001c0001t0002g0055 others(33): Show |
36 | 194 | 0.1856 | -1496 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178395247 | CGTCCTCC others(1489): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 213 | 0.0047 | -1496 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| CR1_chr1_207491157_207646765 | 207548118 | TGTCATTT others(1489): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(14): Show |
a0001a0004a0005others(5): Show | a0001c0001a0004c0015a0005c0008others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(9): Show | a0001c0001t0003g0247 a0001c0001t0004g0223 a0001c0001t0007g0131 others(14): Show |
17 | 358 | 0.0475 | -1496 | c.260 others(18): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/46 | chr1 | TogoVar |