| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FBXO36_chr2_229917503_230018119 | 230012400 | TGCTGGAG others(2553): Show |
T | splice_region_variant | LOW | HG00639.hp2 HG06807.hp1 |
a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0018a0002c0002t0013g0019 | 2 | 342 | 0.0059 | -2560 | c.*15 others(11): Show |
FBXO36 | ENSG00000153832.12 | transcript | ENST00000283946.8 | protein_coding | 4/4 | chr2 | TogoVar | |||||||
| ZNF462_chr9_106858166_107018634 | 106977212 | CCTTGCAA others(2552): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02622.hp2 others(5): Show |
a0001a0006 | a0001c0002a0001c0006a0001c0020others(1): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0040others(3): Show | a0001c0002t0005g0053a0001c0002t0005g0114a0001c0002t0005g0152others(5): Show | 8 | 192 | 0.0417 | -2559 | c.683 others(19): Show |
ZNF462 | ENSG00000148143.13 | transcript | ENST00000277225.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| A3GALT2_chr1_33301766_33326098 | 33319775 | CCAGGCTT others(2551): Show |
C | exon_loss_variant others(3): Show |
HIGH | HG00735.hp1 NA19007.hp1 |
a0007 | a0007c0008 | a0007c0008t0000 | a0007c0008t0000g0046a0007c0008t0000g0047 | 2 | 418 | 0.0048 | -2558 | c.-12 others(13): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
| PHC2_chr1_33318626_33436095 | 33319775 | CCAGGCTT others(2551): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02004.hp1 HG02300.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0136a0001c0002t0001g0158a0001c0002t0001g0159others(1): Show | 4 | 370 | 0.0108 | -2558 | c.*25 others(11): Show |
PHC2 | ENSG00000134686.21 | transcript | ENST00000683057.1 | protein_coding | 3850 | chr1 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1639818 | CTCCTGTG others(2550): Show |
C | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 223 | 0.0045 | -2557 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| WDR72_chr15_53508741_53764663 | 53682261 | GAGATCCA others(2549): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0027 | a0002c0027t0004 | a0002c0027t0004g0252 | 1 | 316 | 0.0032 | -2556 | c.176 others(21): Show |
WDR72 | ENSG00000166415.15 | transcript | ENST00000360509.10 | protein_coding | 13/19 | chr15 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1638694 | ACATGAGG others(2546): Show |
A | intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0030 | 1 | 223 | 0.0045 | -2553 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| GPC6_chr13_93221807_94413020 | 93488931 | GCTGATGG others(2543): Show |
G | intron_variant | MODIFIER | HG00558.hp2 NA19091.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003 | a0001c0003t0003g0063a0002c0002t0003g0011 | 2 | 76 | 0.0263 | -2550 | c.161 others(19): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| NRG3_chr10_81870194_82992178 | 82368058 | GTTTTCTT others(2543): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp1 HG01081.hp1 others(25): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0030a0001c0001t0001g0051others(25): Show | 28 | 66 | 0.4242 | -2550 | c.953 others(18): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| TJP3_chr19_3703384_3755813 | 3725583 | TCGGGAGG others(2541): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18942.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0164a0003c0003t0001g0270 | 2 | 398 | 0.0050 | -2548 | c.-9- others(14): Show |
TJP3 | ENSG00000105289.15 | transcript | ENST00000541714.7 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
| CTXND2_chr1_150882136_150918292 | 150887787 | AGTATTTT others(2540): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0204 | 1 | 372 | 0.0027 | -2547 | c.-74 others(16): Show |
CTXND2 | ENSG00000283324.1 | transcript | ENST00000636087.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DNAH2_chr17_7712744_7838742 | 7826503 | CATGATTC others(2540): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02965.hp2 |
a0002a0013 | a0002c0038a0013c0022 | a0002c0038t0001a0013c0022t0003 | a0002c0038t0001g0229a0013c0022t0003g0275a0013c0022t0003g0276 | 3 | 316 | 0.0095 | -2547 | c.118 others(21): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| CIB4_chr2_26576205_26646366 | 26627767 | CACCCCTC others(2539): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG02083.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0151 | 1 | 344 | 0.0029 | -2546 | c.90- others(15): Show |
CIB4 | ENSG00000157884.11 | transcript | ENST00000288861.5 | protein_coding | 3/7 | chr2 | TogoVar | |||||||
| COL26A1_chr7_101357875_101564024 | 101357968 | GCCAATTT others(2539): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(111): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0114a0001c0001t0002g0061a0001c0001t0002g0062others(111): Show | 114 | 174 | 0.6552 | -2546 | c.-50 others(11): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 4906 | chr7 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 253663 | TGTCCCTA others(2539): Show |
T | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0015 | a0001c0015t0007 | a0001c0015t0007g0026 | 1 | 133 | 0.0075 | -2546 | c.439 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
| L3MBTL2_chr22_41200312_41236271 | 41204400 | GAGAGCCT others(2535): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG00741.hp2 | a0006 | a0006c0016 | a0006c0016t0010 | a0006c0016t0010g0042 | 1 | 370 | 0.0027 | -2542 | c.-96 others(12): Show |
L3MBTL2 | ENSG00000100395.15 | transcript | ENST00000216237.10 | protein_coding | 1/17 | chr22 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070309 | GCCCCAGT others(2533): Show |
G | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 118 | 0.0085 | -2540 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| PDE10A_chr6_165322289_165668241 | 165502314 | GAAAATAA others(2532): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 222 | 0.0045 | -2539 | c.995 others(19): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
| ZNF700_chr19_11920107_11955763 | 11936650 | TTGATGGT others(2531): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198 | 1 | 350 | 0.0029 | -2538 | c.64- others(16): Show |
ZNF700 | ENSG00000196757.8 | transcript | ENST00000254321.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129855669 | GAACGGGA others(2530): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0025 | 1 | 94 | 0.0106 | -2537 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
| ARHGAP19_chr10_97217179_97297637 | 97275106 | TTAAAGCA others(2527): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(229): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0112others(229): Show | 232 | 242 | 0.9587 | -2534 | c.57- others(16): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 1/11 | chr10 | TogoVar | |||||||
| NTNG1_chr1_107136039_107489923 | 107354197 | ATGGTGGC others(2525): Show |
A | intron_variant | MODIFIER | NA18953.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050a0001c0001t0003g0051 | 2 | 150 | 0.0133 | -2532 | c.887 others(19): Show |
NTNG1 | ENSG00000162631.20 | transcript | ENST00000370068.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KLHL32_chr6_96919728_97145753 | 97020143 | GTGTTGGC others(2520): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02976.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0010 | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(2): Show | a0001c0001t0002g0183a0001c0001t0003g0150a0001c0003t0005g0069others(4): Show | 7 | 244 | 0.0287 | -2527 | c.205 others(19): Show |
KLHL32 | ENSG00000186231.17 | transcript | ENST00000369261.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| NPY2R_chr4_155203636_155222076 | 155217270 | TCTTCATT others(2519): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0062 | 1 | 468 | 0.0021 | -2526 | c.*21 others(11): Show |
NPY2R | ENSG00000185149.6 | transcript | ENST00000329476.4 | protein_coding | 195 | chr4 | TogoVar | |||||||
| BANP_chr16_87946434_88082316 | 87998809 | TCCAGACA others(2517): Show |
T | intron_variant | MODIFIER | HG00438.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0195 | 2 | 352 | 0.0057 | -2524 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NINJ1_chr9_93116496_93139251 | 93136619 | CCTGACCT others(2517): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 368 | 0.0027 | -2524 | c.-49 others(11): Show |
NINJ1 | ENSG00000131669.10 | transcript | ENST00000375446.5 | protein_coding | 2369 | chr9 | TogoVar | |||||||
| PPEF1_chrX_18702645_18832917 | 18775373 | GCCACCAC others(2514): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0182 | 1 | 224 | 0.0045 | -2521 | c.559 others(17): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805323 | CCTTCCCT others(2512): Show |
C | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 319 | 0.0031 | -2519 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3869 | chr2 | TogoVar | |||||||
| ZNF100_chr19_21717771_21772579 | 21720244 | ATATGTGT others(2512): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0063 | 1 | 365 | 0.0027 | -2519 | c.*39 others(11): Show |
ZNF100 | ENSG00000197020.12 | transcript | ENST00000358296.11 | protein_coding | 2526 | chr19 | TogoVar | |||||||
| PBXIP1_chr1_154939080_154961099 | 154947092 | TCCTGGAA others(2510): Show |
T | exon_loss_variant | HIGH | HG02273.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0053 | 1 | 286 | 0.0035 | -2517 | c.410 others(16): Show |
PBXIP1 | ENSG00000163346.17 | transcript | ENST00000368463.8 | protein_coding | 9/11 | chr1 | TogoVar | |||||||
| ZNF100_chr19_21717771_21772579 | 21720248 | GTGTTATC others(2510): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(188): Show |
a0001a0004a0005others(5): Show | a0001c0002a0001c0005a0001c0006others(10): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0007others(47): Show | a0001c0002t0003g0007a0001c0002t0003g0263a0001c0002t0003g0264others(166): Show | 191 | 365 | 0.5233 | -2517 | c.*39 others(11): Show |
ZNF100 | ENSG00000197020.12 | transcript | ENST00000358296.11 | protein_coding | 2522 | chr19 | TogoVar | |||||||
| PRKG1_chr10_51069487_52303350 | 52255853 | TAAATATT others(2509): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00738.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0054a0001c0001t0002g0026a0001c0001t0002g0036others(5): Show | 8 | 64 | 0.1250 | -2516 | c.117 others(19): Show |
PRKG1 | ENSG00000185532.20 | transcript | ENST00000373980.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| ZBTB7C_chr18_48021672_48414383 | 48210619 | TAGAGACA others(2508): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0068 | 1 | 174 | 0.0058 | -2515 | c.-78 others(19): Show |
ZBTB7C | ENSG00000184828.10 | transcript | ENST00000590800.6 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
| CAMK1D_chr10_12344547_12840545 | 12518460 | TCTTTATT others(2507): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(111): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0076a0001c0001t0001g0130a0001c0001t0001g0133others(111): Show | 114 | 214 | 0.5327 | -2514 | c.93- others(17): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| DCDC1_chr11_30858603_31374739 | 31372226 | GTAATTCT others(2506): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00741.hp1 others(20): Show |
a0002a0006a0014 | a0002c0003a0006c0007a0014c0029 | a0002c0003t0001a0002c0003t0002a0006c0007t0001others(1): Show | a0002c0003t0001g0086a0002c0003t0001g0087a0002c0003t0001g0090others(20): Show | 23 | 152 | 0.1513 | -2513 | c.-51 others(11): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 2488 | chr11 | TogoVar | |||||||
| VAV3_chr1_107566161_107970180 | 107860349 | GATTGTAG others(2506): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 NA18974.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0002c0002t0009a0003c0004t0001others(1): Show | a0001c0001t0001g0122a0002c0002t0009g0007a0003c0004t0001g0137others(1): Show | 4 | 210 | 0.0191 | -2513 | c.321 others(19): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 2/26 | chr1 | TogoVar | |||||||
| MBNL2_chr13_97217333_97399120 | 97289400 | TAAAATTA others(2505): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 254 | 0.0039 | -2512 | c.174 others(19): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| SLC8A1_chr2_40092270_40457090 | 40385279 | CAGTTTTT others(2504): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0064a0001c0001t0065a0001c0001t0080others(6): Show | a0001c0001t0064g0095a0001c0001t0065g0065a0001c0001t0080g0082others(6): Show | 9 | 236 | 0.0381 | -2511 | c.180 others(21): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
| TRAK1_chr3_42086357_42230890 | 42134183 | CCCTTCCC others(2504): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0130 | 1 | 288 | 0.0035 | -2511 | c.286 others(18): Show |
TRAK1 | ENSG00000182606.17 | transcript | ENST00000327628.10 | protein_coding | 2/15 | chr3 | TogoVar | |||||||
| UGT1A10_chr2_233631448_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(44): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0002a0004c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0013a0001c0001t0001g0136a0001c0001t0001g0141others(44): Show | 47 | 302 | 0.1556 | -2509 | c.856 others(19): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A4_chr2_233713736_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(49): Show |
a0001a0002a0006others(3): Show | a0001c0024a0002c0002a0002c0012others(4): Show | a0001c0024t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0024t0001g0285a0002c0002t0001g0004a0002c0002t0001g0262others(45): Show | 52 | 332 | 0.1566 | -2509 | c.867 others(17): Show |
UGT1A4 | ENSG00000244474.6 | transcript | ENST00000373409.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A5_chr2_233707907_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp2 others(49): Show |
a0002a0003a0004 | a0002c0003a0002c0004a0003c0006others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(4): Show | a0002c0003t0001g0004a0002c0003t0001g0016a0002c0003t0001g0017others(44): Show | 52 | 330 | 0.1576 | -2509 | c.867 others(18): Show |
UGT1A5 | ENSG00000288705.1 | transcript | ENST00000373414.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A6_chr2_233687890_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(48): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0010a0001c0001t0001g0011others(46): Show | 51 | 332 | 0.1536 | -2509 | c.861 others(19): Show |
UGT1A6 | ENSG00000167165.19 | transcript | ENST00000305139.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A7_chr2_233676901_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01069.hp1 others(47): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0003c0004others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(6): Show | a0001c0001t0001g0007a0003c0003t0001g0002a0003c0003t0001g0009others(45): Show | 50 | 320 | 0.1563 | -2509 | c.855 others(19): Show |
UGT1A7 | ENSG00000244122.3 | transcript | ENST00000373426.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A8_chr2_233612633_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00639.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(10): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0159others(42): Show | 45 | 290 | 0.1552 | -2509 | c.856 others(19): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UGT1A9_chr2_233666898_233778300 | 233722831 | TAATAAGA others(2502): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG01069.hp1 others(46): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(43): Show | 49 | 318 | 0.1541 | -2509 | c.856 others(19): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SLC9B1_chr4_102895928_103024705 | 102951944 | AAGGCAAA others(2499): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(192): Show | 196 | 318 | 0.6164 | -2506 | c.212 others(17): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(2498): Show |
C | intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0200 | 1 | 366 | 0.0027 | -2505 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SNX8_chr7_2246770_2319441 | 2296180 | CACAATAT others(2498): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0021a0001c0001t0023others(2): Show | a0001c0001t0003g0038a0001c0001t0021g0351a0001c0001t0023g0122others(2): Show | 5 | 370 | 0.0135 | -2505 | c.94+ others(17): Show |
SNX8 | ENSG00000106266.11 | transcript | ENST00000222990.8 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
| VWA3B_chr2_98082167_98318299 | 98151499 | TGGCCAGA others(2497): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02165.hp2 |
a0016a0017 | a0016c0028a0017c0027 | a0016c0028t0002a0017c0027t0002 | a0016c0028t0002g0085a0017c0027t0002g0084 | 2 | 240 | 0.0083 | -2504 | c.989 others(18): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |