| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DPH7_chr9_137549444_137583925 | 137566634 | TCTGTCTG others(1675): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291 | 1 | 340 | 0.0029 | -1682 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| RHOD_chr11_67051847_67077017 | 67075336 | AACAGAGC others(1674): Show |
A | downstream_gene_variant | MODIFIER | HG01943.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0002 | 1 | 394 | 0.0025 | -1681 | c.*37 others(11): Show |
RHOD | ENSG00000173156.7 | transcript | ENST00000308831.7 | protein_coding | 3320 | chr11 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1673): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(9): Show |
a0003a0008a0019 | a0003c0002a0003c0005a0008c0018others(1): Show | a0003c0002t0001a0003c0005t0001a0008c0018t0001others(1): Show | a0003c0002t0001g0027a0003c0002t0001g0028a0003c0002t0001g0079others(9): Show | 12 | 185 | 0.0649 | -1680 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1673): Show |
G | intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0163 | 1 | 185 | 0.0054 | -1680 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077301 | CGGGAGGC others(1673): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 326 | 0.0031 | -1680 | c.*39 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4521 | chr1 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077301 | CGGGAGGC others(1673): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0005 | a0005c0007 | a0005c0007t0013 | a0005c0007t0013g0056a0005c0007t0013g0057 | 2 | 324 | 0.0062 | -1680 | c.-49 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2996 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974553 | GGCCCAGG others(1673): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0125 | 1 | 150 | 0.0067 | -1680 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| LMNB1_chr5_126772136_126842020 | 126790294 | AGGGGTTT others(1670): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242a0001c0001t0001g0330a0001c0001t0001g0331 | 3 | 374 | 0.0080 | -1677 | c.359 others(19): Show |
LMNB1 | ENSG00000113368.12 | transcript | ENST00000261366.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ABAT_chr16_8669617_8789570 | 8732191 | TTTTTGTT others(1669): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02257.hp1 others(4): Show |
a0002 | a0002c0007a0002c0008a0002c0009others(1): Show | a0002c0007t0018a0002c0008t0002a0002c0008t0003others(2): Show | a0002c0007t0018g0317a0002c0008t0002g0013a0002c0008t0003g0015others(4): Show | 7 | 362 | 0.0193 | -1676 | c.-41 others(17): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
| UGP2_chr2_63836896_63896560 | 63861180 | AGGTTAAT others(1669): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0289 | 3 | 334 | 0.0090 | -1676 | c.255 others(17): Show |
UGP2 | ENSG00000169764.16 | transcript | ENST00000337130.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CLOCK_chr4_55422903_55551909 | 55531548 | TACATCAA others(1668): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0069 | 1 | 338 | 0.0030 | -1675 | c.-29 others(21): Show |
CLOCK | ENSG00000134852.15 | transcript | ENST00000513440.6 | protein_coding | 1/22 | chr4 | TogoVar | ||||||
| WWTR1_chr3_149512235_149663025 | 149550684 | GAGGGACT others(1668): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00621.hp1 others(60): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0230a0001c0001t0001g0272a0001c0001t0002g0192others(60): Show | 63 | 334 | 0.1886 | -1675 | c.569 others(17): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 3/6 | chr3 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 990309 | AGACCCCC others(1667): Show |
A | intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | -1674 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RIPK1_chr6_3063494_3120187 | 3090978 | CGCGCCTA others(1667): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 340 | 0.0029 | -1674 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CCDC144A_chr17_16685241_16782881 | 16733958 | CGAAACCC others(1665): Show |
C | frameshift_variant others(3): Show |
HIGH | NA20805.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0025 | 1 | 318 | 0.0031 | -1672 | c.241 others(13): Show |
p.Ile others(5): Show |
CCDC144A | ENSG00000170160.19 | transcript | ENST00000399273.5 | protein_coding | 12/17 | 2419/4278 | 807/1425 | chr17 | TogoVar | |||
| COL23A1_chr5_178232618_178595393 | 178394895 | TGTCCTCC others(1665): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0056a0001c0001t0003g0006a0001c0001t0003g0170others(27): Show | 30 | 236 | 0.1271 | -1672 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395071 | CGTCCTCC others(1665): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0028a0001c0001t0002g0165a0001c0001t0003g0027others(27): Show | 30 | 236 | 0.1271 | -1672 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| LILRA2_chr19_54568790_54595287 | 54580178 | CTTGTGCC others(1665): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02615.hp1 |
a0010a0018a0028 | a0010c0026a0018c0030a0028c0015 | a0010c0026t0023a0018c0030t0023a0028c0015t0027 | a0010c0026t0023g0094a0018c0030t0023g0095a0028c0015t0027g0054 | 3 | 427 | 0.0070 | -1672 | c.125 others(19): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| NWD2_chr4_37239743_37454463 | 37312344 | CATCCTTT others(1665): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp1 HG02109.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0013a0001c0004t0001others(1): Show | a0001c0001t0001g0043a0001c0001t0001g0052a0001c0001t0001g0288others(3): Show | 6 | 296 | 0.0203 | -1672 | c.152 others(19): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| COMMD1_chr2_61900674_62141058 | 61940869 | TAGTAGAG others(1664): Show |
T | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 286 | 0.0035 | -1671 | c.180 others(19): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1237649 | TCACACAT others(1664): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01071.hp2 others(22): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(6): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(19): Show | a0001c0002t0002g0021a0001c0002t0006g0011a0001c0002t0009g0039others(22): Show | 25 | 40 | 0.6250 | -1671 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MUC5B_chr11_1218066_1267172 | 1243036 | AACTACCA others(1664): Show |
A | disruptive_inframe_deletion | MODERATE | HG04228.hp2 | a0058 | a0058c0108 | a0058c0108t0001 | a0058c0108t0001g0012 | 1 | 350 | 0.0029 | -1671 | c.621 others(9): Show |
p.Leu others(15): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 6270/17911 | 6212/17289 | 2071/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| UBR5_chr8_102247273_102417700 | 102320326 | TCTAGAAA others(1664): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0235 | 1 | 328 | 0.0031 | -1671 | c.178 others(19): Show |
UBR5 | ENSG00000104517.13 | transcript | ENST00000520539.6 | protein_coding | 14/58 | chr8 | TogoVar | ||||||
| ATF1_chr12_50759101_50826162 | 50822052 | GTATTAGG others(1663): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 382 | 0.0026 | -1670 | c.*22 others(11): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 891 | chr12 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280626 | AAGAGAGA others(1663): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0011 | a0011c0007 | a0011c0007t0001 | a0011c0007t0001g0028 | 1 | 50 | 0.0200 | -1670 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131918092 | TTGTAGGG others(1663): Show |
T | intron_variant | MODIFIER | HG02015.hp1 HG02056.hp1 HG02818.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(5): Show | a0001c0001t0003g0015a0001c0001t0003g0091a0001c0001t0006g0047others(13): Show | 17 | 394 | 0.0432 | -1670 | c.101 others(19): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ABHD8_chr19_17287131_17308425 | 17287380 | GAGATTGT others(1662): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288a0001c0001t0001g0289 | 2 | 386 | 0.0052 | -1669 | c.*36 others(11): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 4750 | chr19 | TogoVar | ||||||
| ANKLE1_chr19_17276901_17292646 | 17287380 | GAGATTGT others(1662): Show |
G | splice_region_variant | LOW | HG02258.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0004 | 2 | 406 | 0.0049 | -1669 | c.*82 others(10): Show |
ANKLE1 | ENSG00000160117.16 | transcript | ENST00000404085.7 | protein_coding | 9/9 | chr19 | TogoVar | ||||||
| SLC39A4_chr8_144407414_144421844 | 144420175 | GTCTCTAC others(1662): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01070.hp1 others(10): Show |
a0002a0004a0006others(1): Show | a0002c0002a0002c0025a0004c0005others(2): Show | a0002c0002t0001a0002c0025t0001a0004c0005t0001others(2): Show | a0002c0002t0001g0025a0002c0002t0001g0030a0002c0025t0001g0057others(6): Show | 13 | 422 | 0.0308 | -1669 | c.-50 others(11): Show |
SLC39A4 | ENSG00000147804.10 | transcript | ENST00000301305.8 | protein_coding | 3332 | chr8 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127627 | TGTCACCC others(1661): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG02055.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0307a0001c0001t0005g0306 | 2 | 326 | 0.0061 | -1668 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| C7orf50_chr7_992006_1143247 | 1127701 | AATCTCGG others(1661): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00639.hp2 others(38): Show |
a0001a0009 | a0001c0001a0009c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0251a0001c0001t0003g0252a0001c0001t0003g0253others(38): Show | 41 | 326 | 0.1258 | -1668 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| SCGN_chr6_25647215_25706783 | 25659787 | CCAGGCTA others(1661): Show |
C | intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0261 | 1 | 368 | 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 | a0001c0001t0007g0127a0001c0001t0007g0260a0001c0001t0007g0261others(14): Show | 17 | 286 | 0.0594 | -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 | a0002c0002t0001g0241 | 1 | 294 | 0.0034 | -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 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0238 | 1 | 294 | 0.0034 | -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 | a0001c0001t0002g0038a0001c0003t0003g0012a0001c0003t0003g0013 | 3 | 212 | 0.0142 | -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 |
a0001a0012 | a0001c0001a0012c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0069a0001c0001t0001g0136others(8): Show | 11 | 302 | 0.0364 | -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 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0274a0001c0001t0001g0277a0001c0001t0001g0278others(8): Show | 11 | 290 | 0.0379 | -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 | 250 | 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 | a0002c0003t0002g0042a0002c0003t0002g0045a0002c0003t0002g0054others(1): Show | 4 | 364 | 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 | a0001c0008t0002g0045a0001c0008t0002g0070a0001c0008t0002g0071others(1): Show | 5 | 403 | 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 | a0004c0007t0007 | a0004c0007t0007g0024 | 1 | 420 | 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 | a0004c0004t0004g0121a0004c0004t0004g0122a0004c0004t0004g0123 | 3 | 314 | 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 | a0001c0001t0001g0077a0001c0001t0001g0164 | 2 | 180 | 0.0111 | -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 | a0001c0002t0002g0124a0002c0011t0014g0348a0002c0011t0041g0349others(17): Show | 20 | 394 | 0.0508 | -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 | a0001c0001t0001g0162a0001c0001t0012g0163 | 2 | 445 | 0.0045 | -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 | a0001c0002t0001g0067a0001c0002t0001g0074 | 2 | 312 | 0.0064 | -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 |
a0004a0005a0011 | a0004c0005a0005c0008a0011c0035 | a0004c0005t0003a0005c0008t0002a0011c0035t0002 | a0004c0005t0003g0017a0005c0008t0002g0088a0005c0008t0002g0090others(1): Show | 4 | 130 | 0.0308 | -1660 | c.261 others(20): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |