| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C1R_chr12_7075219_7097445 | 7083645 | GTGGTGNN others(1106): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0001 | a0001c0001t0001g0020a0001c0001t0001g0034a0001c0001t0001g0047others(4): Show | 9 | 320 | 0.0281 | -1113 | c.127 others(19): Show |
C1R | ENSG00000159403.18 | transcript | ENST00000647956.2 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
| IRAK2_chr3_10159919_10248745 | 10240165 | GATACTTT others(1106): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 292 | 0.0034 | -1113 | c.176 others(18): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 12/12 | chr3 | TogoVar | ||||||
| AIG1_chr6_143055889_143346058 | 143215043 | ATTGGGTT others(1105): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0066 | 1 | 204 | 0.0049 | -1112 | c.399 others(19): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| OXLD1_chr17_81660036_81671605 | 81663674 | CGTGAGCC others(1105): Show |
C | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -1112 | c.*41 others(10): Show |
OXLD1 | ENSG00000204237.5 | transcript | ENST00000374741.4 | protein_coding | 1361 | chr17 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16613852 | GAAATGAC others(1104): Show |
G | intron_variant | MODIFIER | HG02615.hp1 NA18951.hp2 NA19030.hp1 |
a0004a0005a0022 | a0004c0005a0005c0006a0022c0019 | a0004c0005t0002a0005c0006t0003a0022c0019t0001 | a0004c0005t0002g0160a0005c0006t0003g0006a0022c0019t0001g0025 | 3 | 182 | 0.0165 | -1111 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16614228 | GGGAATGG others(1104): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA18957.hp1 NA18986.hp1 |
a0002a0004a0024 | a0002c0002a0004c0005a0024c0018 | a0002c0002t0043a0004c0005t0002a0024c0018t0001 | a0002c0002t0043g0175a0004c0005t0002g0072a0024c0018t0001g0009 | 3 | 182 | 0.0165 | -1111 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| COX5A_chr15_74914791_74943073 | 74915766 | GTAATCCC others(1104): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 428 | 0.0023 | -1111 | c.*35 others(11): Show |
COX5A | ENSG00000178741.12 | transcript | ENST00000322347.11 | protein_coding | 4024 | chr15 | TogoVar | ||||||
| DACT3_chr19_46642551_46666182 | 46643111 | GGGTGGTC others(1104): Show |
G | downstream_gene_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0267 | 1 | 460 | 0.0022 | -1111 | c.*42 others(11): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 4439 | chr19 | TogoVar | ||||||
| GOLGA6L2_chr15_23434038_23452243 | 23440085 | ACATCTTC others(1104): Show |
A | frameshift_variant | HIGH | HG01884.hp2 HG02280.hp1 HG03195.hp1 others(1): Show |
a0000 | a0000c0012 | a0000c0012t0002a0000c0012t0005 | a0000c0012t0002g0113a0000c0012t0005g0024 | 4 | 396 | 0.0101 | -1111 | c.127 others(9): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2451/3499 | 1279/2730 | 427/909 | chr15 | TogoVar | ||
| OSBPL8_chr12_76346797_76564771 | 76506918 | AGGCTTCG others(1104): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019a0001c0001t0034 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0055others(2): Show | 5 | 238 | 0.0210 | -1111 | c.-67 others(19): Show |
OSBPL8 | ENSG00000091039.17 | transcript | ENST00000261183.8 | protein_coding | 1/23 | chr12 | TogoVar | ||||||
| SDK1_chr7_3296252_4274000 | 3976314 | GCAGAGGA others(1104): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0043 | a0002c0043t0035 | a0002c0043t0035g0079 | 1 | 116 | 0.0086 | -1111 | c.199 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ABR_chr17_998519_1184981 | 1062193 | TTGTTACG others(1103): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(49): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0058a0001c0001t0001g0071others(48): Show | 52 | 337 | 0.1543 | -1110 | c.118 others(19): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16614734 | CGAACATG others(1103): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0033 | 1 | 182 | 0.0055 | -1110 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| ATXN1_chr6_16294112_16766460 | 16614881 | TGCCACTG others(1103): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0028 | a0001c0028t0015 | a0001c0028t0015g0125 | 1 | 182 | 0.0055 | -1110 | c.-48 others(21): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1103): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG02080.hp1 HG03041.hp2 others(2): Show |
a0001a0019 | a0001c0002a0001c0007a0019c0045 | a0001c0002t0001a0001c0007t0003a0019c0045t0007 | a0001c0002t0001g0035a0001c0002t0001g0186a0001c0007t0003g0038others(2): Show | 5 | 248 | 0.0202 | -1110 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CACNA1B_chr9_137872782_138129619 | 138018008 | TCAGGTGC others(1103): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0020 | a0002c0020t0002 | a0002c0020t0002g0015 | 1 | 248 | 0.0040 | -1110 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL26A1_chr7_101357875_101564024 | 101415876 | TCCCACCT others(1102): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01074.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0006others(7): Show | a0001c0001t0002g0136a0001c0001t0005g0059a0001c0001t0005g0079others(20): Show | 23 | 174 | 0.1322 | -1109 | c.159 others(17): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| EFCAB6_chr22_43523778_43817305 | 43630854 | ATTAGGAC others(1102): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 290 | 0.0035 | -1109 | c.223 others(18): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 19/31 | chr22 | TogoVar | ||||||
| TEX19_chr17_82354247_82368775 | 82360161 | GTTCCCTC others(1102): Show |
G | intron_variant | MODIFIER | NA18962.hp1 NA19012.hp2 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 3 | 380 | 0.0079 | -1109 | c.-27 others(17): Show |
TEX19 | ENSG00000182459.5 | transcript | ENST00000333437.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1235689 | TCTGCCTC others(1101): Show |
T | intron_variant | MODIFIER | HG04184.hp1 NA18522.hp2 NA19086.hp1 |
a0001a0006 | a0001c0001a0001c0003a0006c0012 | a0001c0001t0009a0001c0003t0009a0006c0012t0007 | a0001c0001t0009g0054a0001c0003t0009g0046a0006c0012t0007g0006 | 3 | 106 | 0.0283 | -1108 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DENND1C_chr19_6462207_6486787 | 6485679 | TGGGGTTT others(1101): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp1 NA19055.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0140a0001c0002t0001g0192 | 2 | 420 | 0.0048 | -1108 | c.-50 others(11): Show |
DENND1C | ENSG00000205744.10 | transcript | ENST00000381480.7 | protein_coding | 3893 | chr19 | TogoVar | ||||||
| GSDMC_chr8_129743196_129791624 | 129780905 | TGTAGAGT others(1101): Show |
T | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0150 | 1 | 416 | 0.0024 | -1108 | c.-5+ others(15): Show |
GSDMC | ENSG00000147697.10 | transcript | ENST00000276708.9 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
| KLRG1_chr12_8984546_9015751 | 9002672 | CCCTCCTG others(1101): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 364 | 0.0028 | -1108 | c.358 others(17): Show |
KLRG1 | ENSG00000139187.10 | transcript | ENST00000356986.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SPATA13_chr13_24155720_24312069 | 24268498 | CCTGTAGT others(1101): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0202 | 1 | 356 | 0.0028 | -1108 | c.216 others(21): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| SRGAP2B_chr1_144882288_145100328 | 144882870 | CGGGGGGG others(1101): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0045a0001c0001t0002g0017 | 2 | 56 | 0.0357 | -1108 | c.*81 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4417 | chr1 | TogoVar | ||||||
| UNC5C_chr4_95157504_95553973 | 95325337 | AGGCCAAA others(1101): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0060 | 1 | 204 | 0.0049 | -1108 | c.346 others(18): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393286 | CAGGTGGT others(1101): Show |
C | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 346 | 0.0029 | -1108 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393590 | CGGGTGGT others(1101): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0238 | 1 | 346 | 0.0029 | -1108 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 419855 | TTCCATTA others(1100): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0201 | 1 | 432 | 0.0023 | -1107 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| OR6J1_chr14_22625929_22649352 | 22638089 | CCGGCCGC others(1100): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 362 | 0.0028 | -1107 | c.-27 others(17): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
| TMPRSS2_chr21_41459305_41513158 | 41474394 | GGTGAGGA others(1100): Show |
G | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 382 | 0.0026 | -1107 | c.727 others(16): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
| HS3ST3B1_chr17_14296081_14354404 | 14337600 | GTGCTGGG others(1099): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0044a0001c0001t0068a0001c0001t0084others(1): Show | a0001c0001t0044g0237a0001c0001t0068g0303a0001c0001t0084g0095others(1): Show | 4 | 432 | 0.0093 | -1106 | c.555 others(17): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3685659 | CCAGCCTG others(1099): Show |
C | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 362 | 0.0028 | -1106 | c.981 others(17): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10271181 | ACAGCAAT others(1099): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(106): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0015others(106): Show | 109 | 224 | 0.4866 | -1106 | c.55+ others(17): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
| VNN2_chr6_132738870_132762904 | 132758188 | GTGCGCGC others(1099): Show |
G | upstream_gene_variant | MODIFIER | NA18940.hp1 NA19083.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0023 | 3 | 436 | 0.0069 | -1106 | c.-14 others(10): Show |
VNN2 | ENSG00000112303.14 | transcript | ENST00000326499.11 | protein_coding | 285 | chr6 | TogoVar | ||||||
| DOCK1_chr10_126900428_127457516 | 127260891 | GTGCTCAT others(1098): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02818.hp2 HG03540.hp2 others(3): Show |
a0001a0003a0004 | a0001c0004a0001c0006a0001c0028others(3): Show | a0001c0004t0010a0001c0006t0001a0001c0028t0001others(3): Show | a0001c0004t0010g0052a0001c0006t0001g0041a0001c0028t0001g0123others(3): Show | 6 | 136 | 0.0441 | -1105 | c.304 others(19): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 29/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(1098): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 350 | 0.0029 | -1105 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186162 | GACACGGG others(1098): Show |
G | downstream_gene_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03139.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148a0001c0001t0001g0149a0001c0001t0001g0150others(4): Show | 7 | 350 | 0.0200 | -1105 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2827 | chr16 | TogoVar | ||||||
| RDH13_chr19_55039316_55068148 | 55064676 | GATCTCAG others(1098): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01934.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0005a0001c0002t0005a0002c0003t0002 | a0001c0001t0005g0037a0001c0001t0005g0044a0001c0001t0005g0055others(13): Show | 18 | 377 | 0.0478 | -1105 | c.-27 others(11): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1529 | chr19 | TogoVar | ||||||
| RDH13_chr19_55039316_55068148 | 55064706 | AGGTTCAA others(1098): Show |
A | upstream_gene_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0078 | 1 | 377 | 0.0027 | -1105 | c.-27 others(11): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1559 | chr19 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291354 | TCCGTGTC others(1098): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 284 | 0.0035 | -1105 | c.121 others(17): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1398694 | CCCTCCTC others(1097): Show |
C | intron_variant | MODIFIER | HG03492.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0038 | 1 | 40 | 0.0250 | -1104 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166641 | ATCTGACA others(1097): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0156 | 2 | 339 | 0.0059 | -1104 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1097): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0051 | a0001c0001t0002g0125a0001c0001t0002g0218a0001c0001t0051g0212 | 3 | 339 | 0.0089 | -1104 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 167117 | CATGGTCT others(1097): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00673.hp2 others(42): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(38): Show | 45 | 339 | 0.1327 | -1104 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| FUT2_chr19_48690971_48710951 | 48706493 | TAGGCGTG others(1097): Show |
T | downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0003 | 1 | 394 | 0.0025 | -1104 | c.*25 others(11): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 543 | chr19 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132233885 | TCCCTAGT others(1097): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01978.hp1 HG02027.hp2 others(32): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(9): Show | a0001c0001t0001g0033a0001c0002t0001g0053a0001c0002t0001g0071others(32): Show | 35 | 183 | 0.1913 | -1104 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834426 | CTCCTGGG others(1097): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0259a0001c0001t0001g0260others(24): Show | 27 | 394 | 0.0685 | -1104 | c.127 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834426 | CTCCTGGG others(1097): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp2 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0021a0001c0008t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0108a0001c0001t0001g0139others(14): Show | 17 | 300 | 0.0567 | -1104 | c.*17 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2670 | chr19 | TogoVar | ||||||
| SHD_chr19_4274266_4295722 | 4293125 | GGCTGATT others(1097): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 462 | 0.0022 | -1104 | c.*24 others(11): Show |
SHD | ENSG00000105251.11 | transcript | ENST00000543264.7 | protein_coding | 2404 | chr19 | TogoVar |