| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF10_chr8_1818926_1963641 | 1888186 | GGGTTTGC others(1652): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0012 | a0012c0084 | a0012c0084t0003 | a0012c0084t0003g0356 | 1 | 363 | 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 | 88 | 0.0114 | -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 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0002 | a0001c0002t0003g0017a0001c0004t0002g0144 | 3 | 358 | 0.0084 | -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 | a0001c0002t0072 | a0001c0002t0072g0298 | 1 | 319 | 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 | a0003c0003t0001g0044 | 1 | 320 | 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 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0039others(15): Show | 19 | 300 | 0.0633 | -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 | a0001c0001t0001g0145 | 1 | 328 | 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 | a0001c0001t0001g0012 | 1 | 314 | 0.0032 | -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(237): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(63): Show | a0001c0001t0001g0026a0001c0001t0002g0191a0001c0001t0002g0223others(237): Show | 240 | 352 | 0.6818 | -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 | a0001c0001t0004g0256a0001c0001t0004g0287a0001c0001t0004g0291others(1): Show | 4 | 366 | 0.0109 | -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 | 328 | 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 | a0001c0001t0077g0324 | 1 | 360 | 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 | a0001c0001t0001g0128 | 1 | 412 | 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 | 436 | 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 | a0008c0011t0002g0303a0008c0011t0002g0304 | 2 | 396 | 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 | a0001c0001t0001g0047a0001c0005t0001g0101a0002c0002t0001g0005others(2): Show | 6 | 362 | 0.0166 | -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 |
a0002a0017 | a0002c0002a0017c0028 | a0002c0002t0004a0017c0028t0004 | a0002c0002t0004g0042a0017c0028t0004g0109 | 2 | 412 | 0.0049 | -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 | a0001c0001t0002g0161 | 1 | 366 | 0.0027 | -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 | 407 | 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 | a0001c0001t0001g0198 | 1 | 366 | 0.0027 | -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 | a0001c0001t0001g0297a0001c0003t0032g0095 | 2 | 366 | 0.0055 | -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 |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0046a0001c0001t0001g0067a0001c0001t0002g0140others(10): Show | 13 | 223 | 0.0583 | -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 | 40 | 0.0250 | -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 | a0001c0001t0009g0056a0001c0001t0011g0002a0001c0001t0021g0051others(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 | 320 | 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 | a0005c0008t0038 | a0005c0008t0038g0327 | 1 | 346 | 0.0029 | -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 | a0001c0002t0004g0241 | 1 | 410 | 0.0024 | -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 | a0001c0001t0002g0007a0001c0001t0002g0013a0001c0001t0002g0149 | 9 | 402 | 0.0224 | -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 | a0002c0009t0009g0028a0003c0005t0005g0370a0003c0005t0005g0371others(5): Show | 9 | 412 | 0.0218 | -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 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0149a0001c0001t0001g0150a0002c0002t0001g0148 | 3 | 304 | 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(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0249a0001c0001t0003g0003a0001c0001t0003g0004others(51): Show | 60 | 308 | 0.1948 | -1644 | c.400 others(17): Show |
SMAD1 | ENSG00000170365.10 | transcript | ENST00000302085.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ADGRE5_chr19_14376444_14413723 | 14400747 | GCGCCACT others(1636): Show |
G | exon_loss_variant | HIGH | HG01074.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0235 | 1 | 374 | 0.0027 | -1643 | c.898 others(16): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| RMDN2_chr2_37920287_38022744 | 37958335 | TAGTTCTT others(1635): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015 | a0001c0001t0007g0104a0001c0001t0007g0105a0001c0001t0007g0106others(7): Show | 10 | 328 | 0.0305 | -1642 | c.453 others(19): Show |
RMDN2 | ENSG00000115841.21 | transcript | ENST00000354545.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1636890 | TCATGAGG others(1634): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0128 | 2 | 223 | 0.0090 | -1641 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| TBK1_chr12_64447120_64507114 | 64502997 | TGTGGGGC others(1633): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 392 | 0.0026 | -1640 | c.*16 others(11): Show |
TBK1 | ENSG00000183735.11 | transcript | ENST00000331710.10 | protein_coding | 884 | chr12 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 3560434 | AAAAAAAT others(1631): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0008 | a0001c0001t0002g0047a0001c0002t0008g0037 | 2 | 80 | 0.0250 | -1638 | c.205 others(19): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
| SGSM2_chr17_2332501_2386054 | 2355249 | CCCCATAT others(1631): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG01433.hp2 others(33): Show |
a0001a0002a0003others(4): Show | a0001c0003a0002c0002a0002c0004others(8): Show | a0001c0003t0001a0001c0003t0002a0002c0002t0001others(11): Show | a0001c0003t0001g0390a0001c0003t0002g0020a0002c0002t0001g0131others(30): Show | 36 | 422 | 0.0853 | -1638 | c.134 others(17): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TUBGCP5_chr15_22994177_23044569 | 23042732 | TGGGGGGT others(1629): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 351 | 0.0029 | -1636 | c.-48 others(11): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3164 | chr15 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1628): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0035 | 1 | 106 | 0.0094 | -1635 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79356934 | CGTGTGAG others(1627): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02257.hp2 others(12): Show |
a0001a0003a0010others(1): Show | a0001c0010a0001c0017a0003c0007others(4): Show | a0001c0010t0004a0001c0017t0004a0003c0007t0004others(4): Show | a0001c0010t0004g0277a0001c0010t0004g0295a0001c0010t0004g0297others(12): Show | 15 | 298 | 0.0503 | -1634 | c.290 others(18): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SMURF2_chr17_64537282_64667307 | 64575017 | TAGATAAA others(1627): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 | 1 | 174 | 0.0058 | -1634 | c.857 others(17): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | ||||||
| BAZ2B_chr2_159313979_159621548 | 159569468 | CCCCAGCA others(1626): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 216 | 0.0046 | -1633 | c.-45 others(19): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 1/36 | chr2 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1625): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0027 | a0001c0001t0008g0051a0001c0001t0008g0053a0001c0001t0008g0054others(2): Show | 5 | 339 | 0.0148 | -1632 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974481 | GGCCCAGG others(1625): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0112 | 1 | 150 | 0.0067 | -1632 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105235292 | AACAACCT others(1624): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 72 | 0.0139 | -1631 | c.694 others(17): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888206 | AGTGGGGC others(1623): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0100 | a0001c0100t0072 | a0001c0100t0072g0199 | 1 | 363 | 0.0028 | -1630 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CSMD1_chr8_2930361_4999914 | 3510104 | AGCCTGAA others(1623): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG03098.hp1 others(1): Show |
a0001a0003a0014 | a0001c0002a0003c0034a0003c0058others(1): Show | a0001c0002t0028a0003c0034t0030a0003c0058t0057others(1): Show | a0001c0002t0028g0005a0003c0034t0030g0038a0003c0058t0057g0117others(1): Show | 4 | 126 | 0.0318 | -1630 | c.134 others(21): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | ||||||
| PCDHB8_chr5_141172790_141185539 | 141183909 | TTTCACCC others(1623): Show |
T | downstream_gene_variant | MODIFIER | HG03834.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 414 | 0.0024 | -1630 | c.*34 others(11): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3371 | chr5 | TogoVar | ||||||
| SLC9A9_chr3_143260222_143853468 | 143500744 | AATGTTAT others(1623): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02615.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0082a0001c0001t0002g0078a0001c0001t0002g0087others(6): Show | 9 | 108 | 0.0833 | -1630 | c.109 others(19): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 9/15 | chr3 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888216 | GGGTTGCG others(1622): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0090 | 1 | 363 | 0.0028 | -1629 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |