| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TLDC2_chr20_36871138_36899235 | 36894399 | ATTTTTGT others(1734): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022a0001c0002t0001g0141 | 2 | 384 | 0.0052 | -1741 | c.*15 others(11): Show |
TLDC2 | ENSG00000101342.10 | transcript | ENST00000217320.8 | protein_coding | 165 | chr20 | TogoVar | ||||||
| CYP20A1_chr2_203234018_203311026 | 203263258 | GGATTACA others(1733): Show |
G | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 |
a0003 | a0003c0003 | a0003c0003t0145a0003c0003t0146 | a0003c0003t0145g0019a0003c0003t0146g0020 | 2 | 334 | 0.0060 | -1740 | c.433 others(17): Show |
CYP20A1 | ENSG00000119004.17 | transcript | ENST00000356079.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FAM151B_chr5_80483100_80547563 | 80544920 | CAAAATGT others(1733): Show |
C | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 356 | 0.0028 | -1740 | c.*30 others(11): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 2358 | chr5 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1404230 | CCTCATCG others(1732): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0024 | a0001c0003t0024g0003 | 1 | 40 | 0.0250 | -1739 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TTC28_chr22_27973014_28684840 | 28671374 | GCCTGTAA others(1732): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0051 | 1 | 196 | 0.0051 | -1739 | c.102 others(17): Show |
TTC28 | ENSG00000100154.15 | transcript | ENST00000397906.7 | protein_coding | 1/22 | chr22 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392959 | CAGGTGGT others(1732): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG03491.hp1 HG03492.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0115a0001c0001t0159others(2): Show | a0001c0001t0021g0159a0001c0001t0021g0160a0001c0001t0115g0269others(3): Show | 6 | 346 | 0.0173 | -1739 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| TRAM2_chr6_52492408_52582060 | 52526846 | GGCATGAC others(1731): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0189 | 1 | 378 | 0.0027 | -1738 | c.184 others(17): Show |
TRAM2 | ENSG00000065308.5 | transcript | ENST00000182527.4 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| SCARB1_chr12_124771856_124868864 | 124791720 | GCTGAGGC others(1730): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0232 | 1 | 356 | 0.0028 | -1737 | c.120 others(19): Show |
SCARB1 | ENSG00000073060.17 | transcript | ENST00000261693.11 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
| ZNF106_chr15_42407823_42496141 | 42460595 | CCACGCCT others(1730): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0027 | 1 | 264 | 0.0038 | -1737 | c.116 others(17): Show |
ZNF106 | ENSG00000103994.18 | transcript | ENST00000564754.7 | protein_coding | 3/21 | chr15 | TogoVar | ||||||
| RTN4IP1_chr6_106565771_106634498 | 106597565 | AATCGCTG others(1729): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0206 | 1 | 396 | 0.0025 | -1736 | c.669 others(17): Show |
RTN4IP1 | ENSG00000130347.13 | transcript | ENST00000369063.8 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888850 | TTGTGAGG others(1728): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0049 | a0001c0002t0049g0021 | 1 | 363 | 0.0028 | -1735 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ITGA9_chr3_37447141_37828507 | 37756931 | AAAGAAAT others(1727): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG03516.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0031 | a0002c0002t0007g0039a0002c0002t0007g0129a0002c0002t0007g0130others(1): Show | 4 | 168 | 0.0238 | -1734 | c.254 others(19): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235637 | CCCCTCTG others(1724): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 106 | 0.0094 | -1731 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639631 | AGATAGGG others(1724): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175 | 1 | 223 | 0.0045 | -1731 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1638694 | ACATGAGG others(1723): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0183 | 1 | 223 | 0.0045 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1639498 | GTCCATCC others(1723): Show |
G | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 223 | 0.0045 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1639517 | ACATGAGG others(1723): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(5): Show | a0001c0001t0001g0025a0001c0001t0001g0058a0001c0001t0001g0061others(24): Show | 27 | 223 | 0.1211 | -1730 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76305009 | CATTTTAG others(1722): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02622.hp2 HG02723.hp2 others(9): Show |
a0003a0006a0015others(6): Show | a0003c0098a0006c0014a0006c0067others(8): Show | a0003c0098t0017a0006c0014t0048a0006c0067t0001others(8): Show | a0003c0098t0017g0043a0006c0014t0048g0115a0006c0067t0001g0058others(9): Show | 12 | 166 | 0.0723 | -1729 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132303737 | ACACACCC others(1721): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02135.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(3): Show | a0001c0001t0001g0017a0001c0003t0001g0006a0001c0003t0001g0007others(8): Show | 11 | 183 | 0.0601 | -1728 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| NCF2_chr1_183550562_183595459 | 183580469 | AATTTCCA others(1721): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0265 | 1 | 406 | 0.0025 | -1728 | c.258 others(17): Show |
NCF2 | ENSG00000116701.16 | transcript | ENST00000367535.8 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943313 | CGTCTGCA others(1720): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03139.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0017a0001c0003t0017a0002c0004t0033 | a0001c0001t0017g0065a0001c0003t0017g0067a0002c0004t0033g0095 | 3 | 106 | 0.0283 | -1727 | c.*63 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2697 | chr20 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943366 | CGGCACCG others(1720): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0040 | 1 | 106 | 0.0094 | -1727 | c.*64 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2750 | chr20 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288264 | TCTGCTCC others(1720): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0014 | a0014c0021 | a0014c0021t0008 | a0014c0021t0008g0272 | 1 | 290 | 0.0035 | -1727 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF614_chr19_52008324_52033379 | 52024483 | GTGGGGAA others(1720): Show |
G | exon_loss_variant others(1): Show |
HIGH | NA19043.hp1 | a0010 | a0010c0013 | a0010c0013t0025 | a0010c0013t0025g0073 | 1 | 416 | 0.0024 | -1727 | c.-21 others(16): Show |
ZNF614 | ENSG00000142556.19 | transcript | ENST00000270649.11 | protein_coding | 2/5 | chr19 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132821030 | TGTGCTGA others(1719): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0029 | a0029c0099 | a0029c0099t0002 | a0029c0099t0002g0017 | 1 | 246 | 0.0041 | -1726 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132233453 | TCCCTAGT others(1718): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0067 | 1 | 183 | 0.0055 | -1725 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| HP_chr16_72049505_72066055 | 72056410 | GGCTTCTA others(1717): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00438.hp2 others(102): Show |
a0002 | a0002c0002a0002c0006a0002c0018 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(4): Show | a0002c0002t0001g0002a0002c0002t0001g0018a0002c0002t0001g0023others(6): Show | 105 | 425 | 0.2471 | -1724 | c.191 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392908 | GAAGGCAG others(1717): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02922.hp1 |
a0001a0004 | a0001c0005a0004c0038 | a0001c0005t0112a0004c0038t0125 | a0001c0005t0112g0272a0004c0038t0125g0123 | 2 | 346 | 0.0058 | -1724 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| RNFT2_chr12_116733315_116858631 | 116779928 | AGACAAGG others(1716): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0208 | 1 | 268 | 0.0037 | -1723 | c.882 others(16): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
| ZC3H6_chr2_112270597_112345059 | 112287837 | CGTGATCC others(1716): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02809.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0004a0006c0010t0004 | a0001c0001t0004g0035a0001c0001t0004g0170a0006c0010t0004g0171 | 4 | 288 | 0.0139 | -1723 | c.32+ others(17): Show |
ZC3H6 | ENSG00000188177.15 | transcript | ENST00000409871.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC66A2_chr18_79897420_79956653 | 79920125 | GAACCGAG others(1714): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 352 | 0.0028 | -1721 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316264 | CCATGTGT others(1713): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA18957.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0264a0002c0003t0003g0091 | 2 | 476 | 0.0042 | -1720 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 162157527 | GGTACTGC others(1713): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0015 | 1 | 32 | 0.0313 | -1720 | c.534 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686211 | GGGGCCCC others(1712): Show |
G | intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0285 | 1 | 362 | 0.0028 | -1719 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316350 | GCATCTCA others(1710): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 476 | 0.0021 | -1717 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113067449 | CGCACAGC others(1709): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp1 |
a0001 | a0001c0005a0001c0012 | a0001c0005t0025a0001c0012t0031 | a0001c0005t0025g0016a0001c0012t0031g0021 | 2 | 116 | 0.0172 | -1716 | c.881 others(16): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149003 | TCCTACCA others(1709): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 294 | 0.0034 | -1716 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560629 | TGGAGGAG others(1709): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0100a0001c0003t0004g0101 | 2 | 180 | 0.0111 | -1716 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPSB4_chr3_141046347_141153611 | 141058119 | GCAGTCAT others(1709): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0053 | 1 | 254 | 0.0039 | -1716 | c.-15 others(19): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392982 | CAGGTGGT others(1709): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG03669.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0001t0030others(2): Show | a0001c0001t0001g0162a0001c0001t0025g0170a0001c0001t0030g0230others(2): Show | 5 | 346 | 0.0145 | -1716 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0004a0003c0003t0002g0035a0003c0003t0002g0040others(6): Show | 58 | 425 | 0.1365 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560570 | GCATTCTT others(1707): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 180 | 0.0056 | -1714 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
| MARCHF2_chr19_8408305_8444017 | 8428527 | GTAATCCC others(1706): Show |
G | intron_variant | MODIFIER | NA18962.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0221a0001c0001t0016g0229 | 2 | 392 | 0.0051 | -1713 | c.372 others(16): Show |
MARCHF2 | ENSG00000099785.11 | transcript | ENST00000215555.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740149 | GACAGTGA others(1705): Show |
G | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 445 | 0.0023 | -1712 | c.-27 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2721 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740149 | GACAGTGA others(1705): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 431 | 0.0023 | -1712 | c.*24 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1565 | chr17 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87752039 | GAGATCGC others(1704): Show |
G | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 380 | 0.0026 | -1711 | c.369 others(17): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 4/11 | chr16 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148918 | CACCACAC others(1704): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0073 | 1 | 294 | 0.0034 | -1711 | 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 | 132148957 | ACTCCTAC others(1704): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 294 | 0.0034 | -1711 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| COMMD10_chr5_116080025_116298287 | 116119512 | GCAGTCAC others(1703): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(1): Show | 4 | 350 | 0.0114 | -1710 | c.400 others(19): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288263 | CTCTGCTC others(1702): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 295 | 0.0034 | -1709 | c.*35 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 4127 | chr1 | TogoVar |