| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCGN_chr6_25647215_25706783 | 25659787 | CCAGGCTA others(1661): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 366 | 0.0027 | -1668 | c.154 others(15): Show |
SCGN | ENSG00000079689.15 | transcript | ENST00000377961.3 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ZMYM2_chr13_19953727_20094115 | 20075969 | TACAGGCA others(1661): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01099.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0007g0170 a0001c0001t0007g0172 a0001c0001t0007g0173 others(14): Show |
17 | 284 | 0.0599 | -1668 | c.345 others(19): Show |
ZMYM2 | ENSG00000121741.17 | transcript | ENST00000610343.5 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1660): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 | 1 | 243 | 0.0041 | -1667 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148918 | CACCACAC others(1660): Show |
C | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0186 | 1 | 218 | 0.0046 | -1667 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| RPS6KA3_chrX_20144911_20271909 | 20245858 | ACCTGTAA others(1660): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp1 HG02615.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0003 | a0001c0001t0002g0039 a0001c0003t0003g0012 a0001c0003t0003g0013 |
3 | 210 | 0.0143 | -1667 | c.70- others(17): Show |
RPS6KA3 | ENSG00000177189.14 | transcript | ENST00000379565.9 | protein_coding | 1/21 | chrX | TogoVar | |||||||
| UGT1A10_chr2_233631448_233778300 | 233634665 | CCTCTATC others(1660): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02809.hp1 others(8): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0153 a0001c0001t0001g0220 others(8): Show |
11 | 300 | 0.0367 | -1667 | c.-18 others(10): Show |
UGT1A10 | ENSG00000242515.6 | transcript | ENST00000344644.10 | protein_coding | 1782 | chr2 | TogoVar | |||||||
| UGT1A8_chr2_233612633_233778300 | 233634665 | CCTCTATC others(1660): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG02080.hp1 HG02809.hp2 others(8): Show |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0271 a0001c0001t0001g0274 a0001c0001t0001g0275 others(8): Show |
11 | 288 | 0.0382 | -1667 | c.855 others(19): Show |
UGT1A8 | ENSG00000242366.4 | transcript | ENST00000373450.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| UMAD1_chr7_7635752_7884223 | 7824863 | ATCAATTG others(1660): Show |
A | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0243 | 1 | 248 | 0.0040 | -1667 | c.156 others(19): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DAPK3_chr19_3953453_3976099 | 3973316 | CCCCAGCA others(1658): Show |
C | upstream_gene_variant | MODIFIER | HG02027.hp1 NA18951.hp2 NA19083.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0026 a0002c0003t0002g0039 a0002c0003t0002g0043 |
4 | 362 | 0.0110 | -1665 | c.-41 others(11): Show |
DAPK3 | ENSG00000167657.14 | transcript | ENST00000545797.7 | protein_coding | 2218 | chr19 | TogoVar | |||||||
| EEF2_chr19_3971056_3990463 | 3973316 | CCCCAGCA others(1658): Show |
C | downstream_gene_variant | MODIFIER | HG02027.hp2 NA18949.hp1 NA18951.hp2 others(2): Show |
a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0044 a0001c0008t0002g0068 a0001c0008t0002g0069 others(1): Show |
5 | 402 | 0.0124 | -1665 | c.*15 others(11): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 2739 | chr19 | TogoVar | |||||||
| KHDC1L_chr6_73218544_73230496 | 73224594 | GTGAAACC others(1657): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG03540.hp2 | a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0006 | 1 | 418 | 0.0024 | -1664 | c.-85 others(12): Show |
KHDC1L | ENSG00000256980.5 | transcript | ENST00000370388.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| NBR1_chr17_43166214_43216688 | 43181868 | CAGCTACT others(1657): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18522.hp2 NA20129.hp1 |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0119 a0004c0004t0004g0120 a0004c0004t0004g0121 |
3 | 312 | 0.0096 | -1664 | c.207 others(17): Show |
NBR1 | ENSG00000188554.15 | transcript | ENST00000590996.6 | protein_coding | 5/20 | chr17 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168560546 | GCCCTGAG others(1657): Show |
G | intron_variant | MODIFIER | HG03516.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0164 |
2 | 165 | 0.0121 | -1664 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| KANK2_chr19_11159270_11202545 | 11184166 | AGGAGTTC others(1656): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01071.hp1 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0011a0003c0003others(3): Show | a0001c0002t0002a0002c0011t0014a0002c0011t0041others(10): Show | a0001c0002t0002g0124 a0002c0011t0014g0348 a0002c0011t0041g0349 others(17): Show |
20 | 392 | 0.0510 | -1663 | c.124 others(19): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/12 | chr19 | TogoVar | |||||||
| SERPINF2_chr17_1737871_1760265 | 1739201 | AGCCGGAC others(1656): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0122 a0001c0001t0012g0123 |
2 | 298 | 0.0067 | -1663 | c.-37 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 3669 | chr17 | TogoVar | |||||||
| SORCS1_chr10_106568663_107169706 | 106664278 | TGGTATTC others(1656): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0021 | 1 | 130 | 0.0077 | -1663 | c.230 others(19): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 17/25 | chr10 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235595 | TGCCTCCC others(1653): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0081 | 1 | 106 | 0.0094 | -1660 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| SGMS1_chr10_50300600_50628956 | 50582981 | CAGCTTTA others(1653): Show |
C | intron_variant | MODIFIER | HG03704.hp2 HG04204.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 a0001c0002t0001g0075 |
2 | 310 | 0.0065 | -1660 | c.-58 others(19): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
| TPO_chr2_1408463_1548673 | 1530255 | CCCCCCAC others(1653): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01192.hp1 others(1): Show |
a0004a0005a0015 | a0004c0005a0005c0008a0015c0035 | a0004c0005t0003a0005c0008t0002a0015c0035t0002 | a0004c0005t0003g0017 a0005c0008t0002g0068 a0005c0008t0002g0070 others(1): Show |
4 | 126 | 0.0317 | -1660 | c.261 others(20): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888186 | GGGTTTGC others(1652): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0012 | a0012c0084 | a0012c0084t0008 | a0012c0084t0008g0352 | 1 | 360 | 0.0028 | -1659 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321579 | GCGGGGCT others(1651): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0076 | 1 | 87 | 0.0115 | -1658 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
| SOCS6_chr18_70284045_70335199 | 70286412 | GTGTAAGC others(1651): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0002 | a0001c0002t0003g0011 a0001c0004t0002g0143 |
2 | 356 | 0.0056 | -1658 | c.-28 others(11): Show |
SOCS6 | ENSG00000170677.6 | transcript | ENST00000397942.4 | protein_coding | 2632 | chr18 | TogoVar | |||||||
| BDH1_chr3_197504783_197560968 | 197517201 | CCATCAGT others(1650): Show |
C | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0263 | 1 | 318 | 0.0031 | -1657 | c.409 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | |||||||
| CNST_chr1_246561456_246673595 | 246576265 | TTCTCAGT others(1650): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 318 | 0.0031 | -1657 | c.-52 others(18): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GARNL3_chr9_127259774_127398660 | 127270879 | TTGGCCAC others(1650): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01109.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0001a0001c0009t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 others(15): Show |
19 | 298 | 0.0638 | -1657 | c.144 others(17): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SCFD1_chr14_30617319_30740850 | 30727684 | AGACTTTT others(1650): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 326 | 0.0031 | -1657 | c.183 others(19): Show |
SCFD1 | ENSG00000092108.22 | transcript | ENST00000458591.7 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805369 | TCCCCCCT others(1647): Show |
T | downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 263 | 0.0038 | -1654 | c.*12 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1083 | chr2 | TogoVar | |||||||
| EPSTI1_chr13_42881388_42997241 | 42965658 | TGAAAATC others(1646): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(236): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(59): Show | a0001c0001t0001g0017 a0001c0001t0002g0192 a0001c0001t0002g0214 others(235): Show |
239 | 350 | 0.6829 | -1653 | c.331 others(17): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745270 | CGGGGGTC others(1646): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0255 a0001c0001t0004g0282 a0001c0001t0004g0286 others(1): Show |
4 | 341 | 0.0117 | -1653 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RIC1_chr9_5624107_5781557 | 5750700 | TTAGCACT others(1645): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0026 | 1 | 326 | 0.0031 | -1652 | c.145 others(18): Show |
RIC1 | ENSG00000107036.12 | transcript | ENST00000414202.7 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431430 | GTCTTCTG others(1644): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0321 | 1 | 358 | 0.0028 | -1651 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765724 | CGGGCTGA others(1644): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 409 | 0.0024 | -1651 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MRPL51_chr12_6486886_6498262 | 6487759 | GCCTCCTG others(1644): Show |
G | downstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 433 | 0.0023 | -1651 | c.*28 others(11): Show |
MRPL51 | ENSG00000111639.8 | transcript | ENST00000229238.5 | protein_coding | 4126 | chr12 | TogoVar | |||||||
| NOX5_chr15_69009695_69067762 | 69023704 | TGCTGTAT others(1644): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG03209.hp2 |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0302 a0008c0011t0002g0303 |
2 | 394 | 0.0051 | -1651 | c.51- others(15): Show |
NOX5 | ENSG00000255346.11 | transcript | ENST00000388866.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686279 | GGGGCCCC others(1644): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG02896.hp1 HG02897.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0057 a0001c0005t0001g0111 a0002c0002t0001g0010 others(2): Show |
6 | 309 | 0.0194 | -1651 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1643): Show |
C | intron_variant | MODIFIER | HG00621.hp2 NA18967.hp2 |
a0002a0011 | a0002c0002a0011c0028 | a0002c0002t0004a0011c0028t0004 | a0002c0002t0004g0043 a0011c0028t0004g0110 |
2 | 297 | 0.0067 | -1650 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744955 | TCCGTGGA others(1643): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 226 | 0.0044 | -1650 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PDCD1_chr2_241844884_241863894 | 241846805 | TGCTGGCG others(1643): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0012 | 1 | 406 | 0.0025 | -1650 | c.*26 others(11): Show |
PDCD1 | ENSG00000188389.11 | transcript | ENST00000334409.10 | protein_coding | 3078 | chr2 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744874 | GGGGTCGC others(1642): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 359 | 0.0028 | -1649 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1642): Show |
C | intron_variant | MODIFIER | HG03041.hp1 NA18994.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0032 | a0001c0001t0001g0292 a0001c0003t0032g0101 |
2 | 340 | 0.0059 | -1649 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639725 | GTGTCCCA others(1641): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01993.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0002g0140 others(10): Show |
13 | 221 | 0.0588 | -1648 | c.911 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1404191 | ATCCTCCT others(1641): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0039 | 1 | 38 | 0.0263 | -1648 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28077561 | AAACTATT others(1640): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02897.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0021others(3): Show | a0001c0001t0009g0056 a0001c0001t0011g0002 a0001c0001t0021g0051 others(3): Show |
6 | 62 | 0.0968 | -1647 | c.-35 others(21): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | |||||||
| ME3_chr11_86436108_86677616 | 86621325 | ATGGGATT others(1640): Show |
A | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0046 | 1 | 318 | 0.0031 | -1647 | c.183 others(19): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76392959 | CAGGTGGT others(1640): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0330 | 1 | 335 | 0.0030 | -1647 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| SCCPDH_chr1_246719409_246773137 | 246771491 | GCCCCAAA others(1639): Show |
G | downstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0244 | 1 | 408 | 0.0025 | -1646 | c.*41 others(11): Show |
SCCPDH | ENSG00000143653.10 | transcript | ENST00000366510.4 | protein_coding | 3355 | chr1 | TogoVar | |||||||
| TRIP13_chr5_887884_923120 | 898206 | GTCAGTGT others(1639): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0057 a0001c0001t0002g0115 |
9 | 400 | 0.0225 | -1646 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| COQ8A_chr1_226935294_226992544 | 226955357 | TCACTCTC others(1638): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01934.hp2 HG02027.hp1 others(6): Show |
a0002a0003 | a0002c0009a0003c0005 | a0002c0009t0009a0003c0005t0005 | a0002c0009t0009g0046 a0003c0005t0005g0047 a0003c0005t0005g0328 others(4): Show |
9 | 410 | 0.0220 | -1645 | c.-9- others(15): Show |
COQ8A | ENSG00000163050.18 | transcript | ENST00000366777.4 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SCMH1_chr1_41022202_41247306 | 41105891 | TTGAGACA others(1638): Show |
T | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 HG03471.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0147 a0001c0001t0001g0148 a0003c0002t0001g0146 |
3 | 302 | 0.0099 | -1645 | c.745 others(17): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
| SMAD1_chr4_145476853_145564176 | 145517654 | TTTGGCCA others(1637): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0243 a0001c0001t0003g0004 a0001c0001t0003g0016 others(51): Show |
59 | 306 | 0.1928 | -1644 | c.400 others(17): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |