| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ZNF516_chr18_76352682_76500242 | 76393074 | CAGGTGGT others(1686): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0011 | a0001c0011t0003 | a0001c0011t0003g0003 | 1 | 342 | 0.0029 | -1693 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1397653 | TGTCCTCC others(1685): Show |
T | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 40 | 0.0250 | -1692 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103824628 | GTGTGTGT others(1685): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 182 | 0.0055 | -1692 | c.473 others(17): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070113 | GGGCATCA others(1685): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 118 | 0.0085 | -1692 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| DNMBP_chr10_99870577_100014947 | 99947861 | TTTTCTGA others(1684): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0072 | 1 | 272 | 0.0037 | -1691 | c.226 others(19): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
| VAT1L_chr16_77783564_77985107 | 77931611 | AAAAAGTG others(1684): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0154 | 1 | 340 | 0.0029 | -1691 | c.107 others(21): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| GSK3B_chr3_119816321_120099447 | 119936323 | AAATATAT others(1683): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 others(1): Show |
4 | 298 | 0.0134 | -1690 | c.366 others(18): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
| NBPF9_chr1_149047186_149108551 | 149081362 | CCCGCCTC others(1683): Show |
C | exon_loss_variant | HIGH | NA19005.hp2 | a0024 | a0024c0021 | a0024c0021t0068 | a0024c0021t0068g0217 | 1 | 342 | 0.0029 | -1690 | c.-19 others(16): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 7/30 | chr1 | TogoVar | |||||||
| ARHGEF10_chr8_1818926_1963641 | 1888157 | GGGTTGCG others(1681): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0264 | 1 | 362 | 0.0028 | -1688 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ZC3H7A_chr16_11745597_11802258 | 11772152 | ACCACTGC others(1681): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG02055.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0259 a0001c0001t0001g0260 others(2): Show |
7 | 388 | 0.0180 | -1688 | c.903 others(16): Show |
ZC3H7A | ENSG00000122299.12 | transcript | ENST00000355758.9 | protein_coding | 9/22 | chr16 | TogoVar | |||||||
| ZNF883_chr9_112983129_113017192 | 113015506 | TTCTCAGC others(1679): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01256.hp1 HG02074.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0015a0001c0001t0023others(4): Show | a0001c0001t0007g0011 a0001c0001t0007g0049 a0001c0001t0007g0092 others(12): Show |
28 | 444 | 0.0631 | -1686 | c.-62 others(11): Show |
ZNF883 | ENSG00000228623.9 | transcript | ENST00000639662.2 | protein_coding | 3315 | chr9 | TogoVar | |||||||
| RPTOR_chr17_80539838_80971368 | 80720778 | TCTGCTTC others(1678): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0005a0001c0009a0001c0021 | a0001c0005t0083a0001c0009t0005a0001c0021t0065 | a0001c0005t0083g0017 a0001c0009t0005g0143 a0001c0021t0065g0112 |
3 | 194 | 0.0155 | -1685 | c.508 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | chr17 | TogoVar | |||||||
| DPH7_chr9_137549444_137583925 | 137565630 | ACTCTGTC others(1677): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 298 | 0.0034 | -1684 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
| TEF_chr22_41376942_41404326 | 41378673 | CGTTGGCC others(1677): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 384 | 0.0026 | -1684 | c.-33 others(11): Show |
TEF | ENSG00000167074.15 | transcript | ENST00000266304.9 | protein_coding | 3268 | chr22 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235528 | CCCGGTGT others(1676): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0039 | 1 | 106 | 0.0094 | -1683 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| ARHGAP39_chr8_144524179_144690846 | 144624617 | GGTTCACG others(1676): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0186 | 1 | 230 | 0.0043 | -1683 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
| HIP1_chr7_75528298_75743941 | 75706463 | TATATATC others(1676): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02976.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0003a0001c0001t0004a0001c0002t0004others(2): Show | a0001c0001t0003g0099 a0001c0001t0003g0162 a0001c0001t0004g0100 others(3): Show |
6 | 252 | 0.0238 | -1683 | c.120 others(19): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | |||||||
| NEDD4L_chr18_58039226_58406539 | 58117787 | GCAGCAGC others(1676): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 116 | 0.0086 | -1683 | c.49- others(17): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| YIPF4_chr2_32272904_32321594 | 32315724 | GGCAAGAC others(1676): Show |
G | splice_region_variant | LOW | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0073 | a0001c0001t0073g0117 | 1 | 396 | 0.0025 | -1683 | c.*10 others(13): Show |
YIPF4 | ENSG00000119820.11 | transcript | ENST00000238831.9 | protein_coding | 6/6 | chr2 | TogoVar | |||||||
| DPH7_chr9_137549444_137583925 | 137566634 | TCTGTCTG others(1675): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0290 | 1 | 331 | 0.0030 | -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 | 392 | 0.0026 | -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 |
a0003a0006 | a0003c0002a0003c0006a0003c0018others(1): Show | a0003c0002t0001a0003c0006t0001a0003c0018t0001others(1): Show | a0003c0002t0001g0028 a0003c0002t0001g0029 a0003c0002t0001g0082 others(9): Show |
12 | 85 | 0.1412 | -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 |
C | intron_variant | MODIFIER | NA18993.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0014 | 1 | 124 | 0.0081 | -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 | a0001c0001t0001g0294 | 1 | 135 | 0.0074 | -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 |
a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0053 a0004c0007t0011g0054 |
2 | 126 | 0.0159 | -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 | a0002c0008t0002g0142 | 1 | 147 | 0.0068 | -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 | a0001c0001t0001g0238 a0001c0001t0001g0325 a0001c0001t0001g0326 |
3 | 372 | 0.0081 | -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 | a0002c0007t0018g0312 a0002c0008t0002g0013 a0002c0008t0003g0015 others(4): Show |
7 | 360 | 0.0194 | -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 | a0001c0001t0001g0032 a0001c0001t0001g0283 |
3 | 332 | 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 | a0001c0001t0030 | a0001c0001t0030g0069 | 1 | 336 | 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 |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0232 a0001c0001t0001g0265 a0001c0001t0002g0191 others(60): Show |
63 | 332 | 0.1898 | -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 | 36 | 0.0278 | -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 | a0001c0001t0004g0009 | 1 | 194 | 0.0052 | -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 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0026 | 1 | 316 | 0.0032 | -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 | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0056 a0001c0001t0003g0006 a0001c0001t0003g0169 others(27): Show |
30 | 188 | 0.1596 | -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 | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0028 a0001c0001t0002g0165 a0001c0001t0003g0027 others(27): Show |
30 | 231 | 0.1299 | -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 |
a0010a0014a0016 | a0010c0026a0014c0015a0016c0030 | a0010c0026t0023a0014c0015t0027a0016c0030t0023 | a0010c0026t0023g0077 a0014c0015t0027g0046 a0016c0030t0023g0078 |
3 | 426 | 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 | a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0287 others(3): Show |
6 | 294 | 0.0204 | -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 | 284 | 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 | a0001c0002t0002g0022 a0001c0002t0006g0011 a0001c0002t0009g0039 others(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 | a0124 | a0124c0109 | a0124c0109t0001 | a0124c0109t0001g0012 | 1 | 345 | 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 | a0001c0014t0001g0231 | 1 | 326 | 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 | a0001c0001t0001g0214 | 1 | 380 | 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 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0024 | 1 | 48 | 0.0208 | -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 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0003g0020 a0001c0001t0003g0092 a0001c0001t0003g0133 others(13): Show |
17 | 392 | 0.0434 | -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 | a0001c0001t0001g0263 a0001c0001t0001g0265 |
2 | 384 | 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 | a0001c0001t0010 | a0001c0001t0010g0004 | 2 | 404 | 0.0050 | -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 | a0002c0002t0001g0025 a0002c0002t0001g0030 a0002c0025t0001g0056 others(6): Show |
13 | 420 | 0.0310 | -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 | a0001c0001t0003g0323 a0001c0001t0005g0322 |
2 | 311 | 0.0064 | -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(37): Show |
a0001a0006 | a0001c0001a0006c0003 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 others(37): Show |
40 | 249 | 0.1606 | -1668 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar |