| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TIAM2_chr6_154990315_155262723 | 155079863 | GCTTGAAA others(2695): Show |
G | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 230 | 0.0044 | -2702 | c.-20 others(20): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 990795 | AGACCCCC others(2693): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -2700 | 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 | 3090743 | TGCACCTA others(2690): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026a0001c0001t0003g0197 | 2 | 340 | 0.0059 | -2697 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(2686): Show |
T | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 360 | 0.0028 | -2693 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PPP6C_chr9_125141573_125194803 | 125185429 | CACGCCTG others(2685): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0358 | 1 | 394 | 0.0025 | -2692 | c.75+ others(15): Show |
PPP6C | ENSG00000119414.12 | transcript | ENST00000373547.9 | protein_coding | 1/6 | chr9 | TogoVar | |||||||
| CHN1_chr2_174793809_175010381 | 174974458 | GCAATGAA others(2682): Show |
G | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 276 | 0.0036 | -2689 | c.20- others(17): Show |
CHN1 | ENSG00000128656.15 | transcript | ENST00000409900.9 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
| ATAD3B_chr1_1466765_1502848 | 1497594 | AGGTGGCT others(2679): Show |
A | splice_region_variant | LOW | HG02258.hp1 | a0024 | a0024c0036 | a0024c0036t0030 | a0024c0036t0030g0082 | 1 | 276 | 0.0036 | -2686 | c.*17 others(11): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 16/16 | chr1 | TogoVar | |||||||
| SOWAHC_chr2_109609364_109623990 | 109617759 | CTGTAATC others(2676): Show |
C | splice_region_variant | LOW | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 432 | 0.0023 | -2683 | c.*16 others(11): Show |
SOWAHC | ENSG00000198142.5 | transcript | ENST00000356454.5 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
| XRN2_chr20_21298331_21394825 | 21305452 | GCCATGTT others(2675): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(149): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(145): Show | 152 | 278 | 0.5468 | -2682 | c.75+ others(15): Show |
XRN2 | ENSG00000088930.8 | transcript | ENST00000377191.5 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| C4orf19_chr4_37448925_37598510 | 37490019 | AAAAAAAG others(2672): Show |
A | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0211 | 1 | 354 | 0.0028 | -2679 | c.-73 others(19): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1404191 | ATCCTCCT others(2672): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -2679 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| B3GAT2_chr6_70851679_70962060 | 70889294 | ATTAAAGA others(2671): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0167 | 1 | 316 | 0.0032 | -2678 | c.736 others(17): Show |
B3GAT2 | ENSG00000112309.11 | transcript | ENST00000230053.11 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
| CAMTA1_chr1_6780454_7774706 | 7585694 | GGGCAGGA others(2671): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 | 1 | 58 | 0.0172 | -2678 | c.511 others(19): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258395 | AGAGCATT others(2670): Show |
A | downstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0101 | 1 | 266 | 0.0038 | -2677 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1314 | chr5 | TogoVar | |||||||
| ADGB_chr6_146593972_146820462 | 146770679 | ACGAGAAA others(2669): Show |
A | intron_variant | MODIFIER | NA18998.hp2 NA19085.hp1 NA19087.hp2 |
a0003a0005 | a0003c0019a0005c0026 | a0003c0019t0001a0005c0026t0001 | a0003c0019t0001g0080a0003c0019t0001g0274a0005c0026t0001g0132 | 3 | 276 | 0.0109 | -2676 | c.386 others(19): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 29/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744874 | GGGGTCGC others(2668): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0276 | 1 | 366 | 0.0027 | -2675 | 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 | 744927 | CCCGGGGG others(2668): Show |
C | intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 366 | 0.0027 | -2675 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ZNF398_chr7_149142453_149188042 | 149150472 | GCCTGTGG others(2667): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 314 | 0.0032 | -2674 | c.24+ others(14): Show |
ZNF398 | ENSG00000197024.9 | transcript | ENST00000475153.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| KCNH8_chr3_19143510_19540642 | 19275294 | AGTGTGTT others(2666): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0091 | 1 | 134 | 0.0075 | -2673 | c.311 others(17): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| OR2V1_chr5_181118122_181136169 | 181133460 | AGCCTCCC others(2665): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02280.hp1 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0060a0001c0001t0001g0167others(7): Show | 13 | 438 | 0.0297 | -2672 | c.-52 others(11): Show |
OR2V1 | ENSG00000185372.4 | transcript | ENST00000641551.1 | protein_coding | 2292 | chr5 | TogoVar | |||||||
| RBFOX1_chr16_6014024_7718340 | 6224503 | TAAGATGC others(2665): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0014 | 1 | 68 | 0.0147 | -2672 | c.-12 others(21): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| GHRH_chr20_37246086_37266814 | 37263210 | TGCCACTG others(2663): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 408 | 0.0025 | -2670 | c.-41 others(11): Show |
GHRH | ENSG00000118702.11 | transcript | ENST00000373614.7 | protein_coding | 1397 | chr20 | TogoVar | |||||||
| SLC9B1_chr4_102895928_103024705 | 102924867 | ACCAATTA others(2663): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 318 | 0.0031 | -2670 | c.829 others(17): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
| PCNT_chr21_46319156_46450769 | 46381982 | CGCATTCA others(2661): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00621.hp1 others(63): Show |
a0003a0009a0010others(10): Show | a0003c0003a0003c0080a0003c0084others(12): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0005others(14): Show | a0003c0003t0001g0124a0003c0003t0001g0125a0003c0003t0001g0132others(63): Show | 66 | 332 | 0.1988 | -2668 | c.331 others(18): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| PCDHB16_chr5_141177387_141191226 | 141188559 | AAGCTGAG others(2660): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 452 | 0.0022 | -2667 | c.*36 others(11): Show |
PCDHB16 | ENSG00000272674.4 | transcript | ENST00000609684.3 | protein_coding | 2334 | chr5 | TogoVar | |||||||
| DNAH9_chr17_11593470_11974748 | 11972082 | TGCTGACT others(2659): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 | a0047 | a0047c0111 | a0047c0111t0001 | a0047c0111t0001g0089 | 1 | 178 | 0.0056 | -2666 | c.*25 others(11): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 2335 | chr17 | TogoVar | |||||||
| SSH2_chr17_29620938_29935228 | 29852003 | TGGGCACG others(2659): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG03225.hp2 others(1): Show |
a0001a0014 | a0001c0001a0014c0016 | a0001c0001t0015a0001c0001t0020a0014c0016t0018 | a0001c0001t0015g0006a0001c0001t0015g0007a0001c0001t0020g0005others(1): Show | 4 | 232 | 0.0172 | -2666 | c.64- others(15): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 1/15 | chr17 | TogoVar | |||||||
| LYNX1_chr8_142766202_142782202 | 142779109 | TGGGTGAT others(2653): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0068 | 1 | 444 | 0.0023 | -2660 | c.-48 others(11): Show |
LYNX1 | ENSG00000180155.20 | transcript | ENST00000652477.1 | protein_coding | 1908 | chr8 | TogoVar | |||||||
| CNTNAP2_chr7_146111801_148425998 | 146602890 | TGGAGGTC others(2650): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0010a0001c0003t0004others(1): Show | a0001c0001t0002g0006a0001c0002t0010g0002a0001c0003t0004g0029others(1): Show | 4 | 40 | 0.1000 | -2657 | c.98- others(19): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
| HGSNAT_chr8_43135464_43207855 | 43178579 | GATTTCAT others(2650): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0222 | 1 | 234 | 0.0043 | -2657 | c.101 others(17): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| POTEG_chr14_19397486_19439341 | 19408948 | AGTGAATA others(2647): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG02027.hp2 HG03017.hp2 others(8): Show |
a0005a0009a0038 | a0005c0007a0005c0011a0009c0008others(1): Show | a0005c0007t0003a0005c0011t0003a0009c0008t0002others(2): Show | a0005c0007t0003g0029a0005c0007t0003g0031a0005c0007t0003g0032others(8): Show | 11 | 111 | 0.0991 | -2654 | c.140 others(19): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
| REEP5_chr5_112871385_112927227 | 112888535 | ACAGCCTC others(2646): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0017others(10): Show | a0001c0001t0005g0001a0001c0001t0005g0010a0001c0001t0005g0256others(32): Show | 43 | 340 | 0.1265 | -2653 | c.352 others(17): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
| SPRY3_chrX_155607586_155787459 | 155689412 | GTTTCAAT others(2645): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0013a0001c0001t0001g0039a0001c0001t0001g0044others(91): Show | 94 | 231 | 0.4069 | -2652 | c.-28 others(21): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277502 | GGAGGAAA others(2644): Show |
G | intron_variant | MODIFIER | HG02293.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0014 | 1 | 50 | 0.0200 | -2651 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| ENTREP2_chr15_29115252_29575979 | 29460762 | CAATTCTA others(2644): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0004 | a0002c0004t0048 | a0002c0004t0048g0122 | 1 | 125 | 0.0080 | -2651 | c.220 others(19): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
| ERBB4_chr2_211370717_212543802 | 212298623 | GATACTAC others(2643): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 56 | 0.0179 | -2650 | c.83- others(19): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
| FARS2_chr6_5256513_5776583 | 5559660 | ATTCTAAA others(2641): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 170 | 0.0059 | -2648 | c.106 others(21): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429597 | CGGTCTGG others(2639): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0248 | 1 | 360 | 0.0028 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(2639): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 360 | 0.0028 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429718 | TCAGCAGT others(2639): Show |
T | intron_variant | MODIFIER | NA18952.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0089a0001c0001t0011g0295 | 2 | 360 | 0.0056 | -2646 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SDHA_chr5_213320_262082 | 258388 | CCCTGCCA others(2638): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG03471.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0004a0004c0005t0006 | a0004c0005t0004g0106a0004c0005t0006g0105a0004c0005t0006g0107others(1): Show | 4 | 266 | 0.0150 | -2645 | c.*19 others(11): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 1307 | chr5 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805431 | CGCAGGCC others(2637): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 319 | 0.0031 | -2644 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3761 | chr2 | TogoVar | |||||||
| HMBOX1_chr8_28885395_29058262 | 28911484 | TAGCTAGG others(2636): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0331 | 1 | 344 | 0.0029 | -2643 | c.-58 others(19): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66600647 | ATTAACAG others(2635): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01109.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0018a0001c0002t0002others(2): Show | a0001c0001t0001g0064a0001c0001t0001g0073a0001c0001t0018g0076others(4): Show | 7 | 80 | 0.0875 | -2642 | c.334 others(21): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
| KLRC3_chr12_10407315_10425595 | 10422955 | CCTGATTA others(2633): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 448 | 0.0022 | -2640 | c.-50 others(11): Show |
KLRC3 | ENSG00000205810.9 | transcript | ENST00000396439.7 | protein_coding | 2361 | chr12 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805209 | TTCCCTCC others(2632): Show |
T | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0108 | 1 | 314 | 0.0032 | -2639 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 923 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805209 | TTCCCTCC others(2632): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 319 | 0.0031 | -2639 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3983 | chr2 | TogoVar | |||||||
| CNIH3_chr1_224611317_224745554 | 224627968 | GCTGGTCA others(2630): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02523.hp2 HG04184.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0030 | a0001c0001t0006g0027a0001c0001t0006g0028a0001c0001t0006g0032others(10): Show | 13 | 358 | 0.0363 | -2637 | c.81+ others(17): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090947 | CGCGCCTA others(2628): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 340 | 0.0029 | -2635 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |