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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH2_chr17_7712744_7838742 | 7826503 | CATGATTC others(2540): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02717.hp1 HG02965.hp2 |
a0002a0012 | a0002c0038a0012c0022 | a0002c0038t0001a0012c0022t0003 | a0002c0038t0001g0229 a0012c0022t0003g0275 a0012c0022t0003g0276 |
3 | 314 | 0.0096 | -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 | a0004c0008t0002g0148 | 1 | 342 | 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(110): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0115 a0001c0001t0002g0061 a0001c0001t0002g0062 others(110): Show |
113 | 172 | 0.6570 | -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 | 129 | 0.0078 | -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 | a0006c0015 | a0006c0015t0010 | a0006c0015t0010g0044 | 1 | 368 | 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 | a0001c0001t0001g0111 | 1 | 66 | 0.0152 | -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 | a0001c0001t0001g0019 | 1 | 220 | 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 | a0002c0002t0001g0184 | 1 | 348 | 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 | a0002c0003t0001g0056 | 1 | 90 | 0.0111 | -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(228): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(25): Show | a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0112 others(228): Show |
231 | 240 | 0.9625 | -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 | a0001c0001t0001g0051 a0001c0001t0003g0052 |
2 | 148 | 0.0135 | -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 |
a0001a0007 | a0001c0001a0001c0003a0007c0010 | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(2): Show | a0001c0001t0002g0182 a0001c0001t0003g0149 a0001c0003t0005g0068 others(4): Show |
7 | 242 | 0.0289 | -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 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0062 | 1 | 466 | 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 | a0001c0001t0001g0185 a0001c0001t0001g0196 |
2 | 350 | 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 | 366 | 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 | a0001c0005t0001g0185 | 1 | 222 | 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 | 315 | 0.0032 | -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 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0066 | 1 | 364 | 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 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0047 | 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 |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(45): Show | a0001c0001t0003g0009 a0001c0001t0003g0027 a0001c0001t0003g0258 others(161): Show |
191 | 364 | 0.5247 | -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 | a0001c0001t0001g0054 a0001c0001t0002g0026 a0001c0001t0002g0036 others(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 | a0001c0006t0005g0069 | 1 | 172 | 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 | a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0133 others(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 |
a0002a0006a0012 | a0002c0003a0006c0007a0012c0029 | a0002c0003t0001a0002c0003t0002a0006c0007t0001others(1): Show | a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0090 others(20): Show |
23 | 150 | 0.1533 | -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 | a0001c0001t0001g0120 a0002c0002t0009g0006 a0003c0004t0001g0137 others(1): Show |
4 | 208 | 0.0192 | -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 | 252 | 0.0040 | -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 | a0001c0001t0064g0093 a0001c0001t0065g0063 a0001c0001t0080g0080 others(6): Show |
9 | 234 | 0.0385 | -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 | 286 | 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 | a0001c0001a0001c0002a0004c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0035 a0001c0001t0001g0040 others(44): Show |
47 | 300 | 0.1567 | -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 | a0001c0024t0001g0242 a0002c0002t0001g0010 a0002c0002t0001g0031 others(43): Show |
52 | 330 | 0.1576 | -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 | a0002c0003t0001g0010 a0002c0003t0001g0030 a0002c0003t0001g0031 others(43): Show |
52 | 328 | 0.1585 | -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 | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0020 others(45): Show |
51 | 330 | 0.1545 | -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 | a0001c0001t0001g0014 a0003c0003t0001g0008 a0003c0003t0001g0017 others(44): Show |
50 | 318 | 0.1572 | -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 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0160 others(42): Show |
45 | 288 | 0.1563 | -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 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0016 others(43): Show |
49 | 316 | 0.1551 | -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(192): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(190): Show |
195 | 316 | 0.6171 | -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 | a0002c0002t0001g0202 | 1 | 310 | 0.0032 | -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 | a0001c0001t0003g0040 a0001c0001t0021g0349 a0001c0001t0023g0122 others(2): Show |
5 | 368 | 0.0136 | -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 |
a0017a0018 | a0017c0027a0018c0028 | a0017c0027t0002a0018c0028t0002 | a0017c0027t0002g0215 a0018c0028t0002g0216 |
2 | 238 | 0.0084 | -2504 | c.989 others(18): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GSG1_chr12_13078532_13108667 | 13104386 | ACATCATT others(2495): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 NA18971.hp2 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0185 a0001c0001t0002g0187 |
3 | 446 | 0.0067 | -2502 | c.-33 others(10): Show |
GSG1 | ENSG00000111305.19 | transcript | ENST00000651961.1 | protein_coding | 720 | chr12 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159180407 | GTCCTTTT others(2495): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 250 | 0.0040 | -2502 | c.10- others(17): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49069402 | TTTTATAT others(2494): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03130.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0001t0016g0001 |
3 | 104 | 0.0288 | -2501 | c.378 others(19): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
TMC2_chr20_2531573_2648580 | 2642731 | CACAGCTC others(2491): Show |
C | splice_region_variant | LOW | HG02965.hp2 | a0021 | a0021c0027 | a0021c0027t0022 | a0021c0027t0022g0264 | 1 | 342 | 0.0029 | -2498 | c.*13 others(11): Show |
TMC2 | ENSG00000149488.14 | transcript | ENST00000358864.2 | protein_coding | 20/20 | chr20 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8796595 | TTTGGATG others(2490): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0005 | 1 | 34 | 0.0294 | -2497 | c.-10 others(21): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92131343 | ACCTCCCT others(2490): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00735.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0104 a0001c0001t0002g0112 a0001c0001t0002g0154 others(12): Show |
15 | 188 | 0.0798 | -2497 | c.151 others(19): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1342590 | CCCCCTGT others(2489): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0083 | 1 | 188 | 0.0053 | -2496 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1343723 | CTTTTCCC others(2488): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0074 | 1 | 185 | 0.0054 | -2495 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NUDT3_chr6_34274679_34397669 | 34349330 | AAGACCAA others(2487): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022a0001c0001t0026 | a0001c0001t0004g0134 a0001c0001t0004g0135 a0001c0001t0004g0136 others(11): Show |
14 | 268 | 0.0522 | -2494 | c.100 others(17): Show |
NUDT3 | ENSG00000272325.2 | transcript | ENST00000607016.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
ACSL3_chr2_222856036_222949639 | 222895460 | TTACTTTG others(2486): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(223): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(217): Show |
226 | 250 | 0.9040 | -2493 | c.-14 others(19): Show |
ACSL3 | ENSG00000123983.15 | transcript | ENST00000357430.8 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAXX_chr6_33313558_33327959 | 33325095 | GGTGGCTC others(2486): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 13 | 374 | 0.0348 | -2493 | c.-47 others(11): Show |
DAXX | ENSG00000204209.13 | transcript | ENST00000374542.10 | protein_coding | 2137 | chr6 | TogoVar |