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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HAVCR1_chr5_157024413_157064116 | 157051323 | AAAATGTG others(55): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 352 | 0.0028 | -62 | c.673 others(78): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 4/8 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375402 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02615.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0039 | a0001c0001t0002g0015a0001c0001t0002g0026a0001c0001t0002g0097others(2): Show | 5 | 226 | 0.0221 | -62 | c.123 others(83): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 620925 | GGGGCGCC others(55): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(61): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0006others(19): Show | a0001c0002t0003a0001c0002t0019a0001c0003t0006others(23): Show | a0001c0002t0003g0074a0001c0002t0003g0078a0001c0002t0003g0093others(59): Show | 64 | 408 | 0.1569 | -62 | c.*44 others(73): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3767 | chr19 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17146301 | GCGCCCTC others(55): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0056 | 1 | 422 | 0.0024 | -62 | c.444 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17146569 | CGGCCTTC others(55): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 422 | 0.0024 | -62 | c.444 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17146647 | GTCATCGC others(55): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp2 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0143a0001c0002t0001g0077a0001c0002t0001g0168others(24): Show | 39 | 422 | 0.0924 | -62 | c.444 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17147020 | CCATCGCA others(55): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01891.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0084a0001c0001t0001g0098a0001c0001t0001g0101others(32): Show | 39 | 422 | 0.0924 | -62 | c.443 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17147082 | TCATCGCA others(55): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00738.hp1 HG00741.hp1 others(14): Show |
a0001a0002a0003 | a0001c0004a0002c0008a0003c0006 | a0001c0004t0001a0002c0008t0001a0003c0006t0001 | a0001c0004t0001g0046a0001c0004t0001g0213a0001c0004t0001g0217others(13): Show | 17 | 422 | 0.0403 | -62 | c.443 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HDHD5_chr22_17132520_17164277 | 17147251 | CGGCCTTC others(55): Show |
C | intron_variant | MODIFIER | HG02735.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162 | 2 | 422 | 0.0047 | -62 | c.443 others(79): Show |
HDHD5 | ENSG00000069998.12 | transcript | ENST00000336737.8 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
HECW2_chr2_196189072_196598554 | 196598354 | GGGAAGGG others(55): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 112 | 0.0089 | -62 | c.-49 others(73): Show |
HECW2 | ENSG00000138411.13 | transcript | ENST00000644978.2 | protein_coding | 4801 | chr2 | TogoVar | |||||||
HERPUD2_chr7_35627659_35700135 | 35682264 | TATATAGA others(55): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0141 | 1 | 392 | 0.0026 | -62 | c.148 others(79): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
HGSNAT_chr8_43135464_43207855 | 43181098 | GGAGAGGG others(55): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG02109.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0005others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0008g0169others(2): Show | 5 | 234 | 0.0214 | -62 | c.101 others(80): Show |
HGSNAT | ENSG00000165102.15 | transcript | ENST00000379644.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122850381 | TGGGGGGG others(55): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001a0003a0004others(16): Show | a0001c0001a0001c0011a0001c0012others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(141): Show | 221 | 348 | 0.6351 | -62 | c.438 others(77): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | chr12 | TogoVar | |||||||
HIP1R_chr12_122830457_122867961 | 122850506 | GGGGGGGG others(55): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0116 | 1 | 348 | 0.0029 | -62 | c.439 others(77): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122853216 | TTGTCAGG others(55): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp1 others(46): Show |
a0001a0002a0013others(1): Show | a0001c0005a0002c0002a0002c0009others(2): Show | a0001c0005t0001a0002c0002t0001a0002c0002t0004others(5): Show | a0001c0005t0001g0095a0002c0002t0001g0002a0002c0002t0001g0012others(37): Show | 49 | 348 | 0.1408 | -62 | c.578 others(77): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HMCN2_chr9_130260760_130439123 | 130331512 | GGCTTGGG others(55): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0169 | a0169c0191 | a0169c0191t0002 | a0169c0191t0002g0196 | 1 | 258 | 0.0039 | -62 | c.335 others(81): Show |
HMCN2 | ENSG00000148357.18 | transcript | ENST00000683500.2 | protein_coding | 22/97 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10331920 | GTTGTCAT others(55): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01071.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0098a0001c0001t0001g0103others(34): Show | 37 | 314 | 0.1178 | -62 | c.-11 others(83): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10335952 | CTGTAAAT others(55): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 314 | 0.0032 | -62 | c.-11 others(83): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10376839 | CCGTATTG others(55): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0023 | a0001c0001t0001g0205a0001c0001t0004g0264a0001c0001t0023g0025 | 3 | 314 | 0.0096 | -62 | c.-11 others(83): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10376870 | GCGTATTG others(55): Show |
G | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0152 | 1 | 314 | 0.0032 | -62 | c.-11 others(83): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HRH3_chr20_62209960_62225278 | 62213674 | TGGGGGAA others(55): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00733.hp2 HG00741.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0023others(8): Show | 33 | 368 | 0.0897 | -62 | c.*22 others(73): Show |
HRH3 | ENSG00000101180.17 | transcript | ENST00000340177.10 | protein_coding | 1285 | chr20 | TogoVar | |||||||
HS3ST4_chr16_25686959_26142685 | 25991040 | TCACCGGC others(55): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 164 | 0.0061 | -62 | c.735 others(83): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSH2D_chr19_16138685_16163575 | 16153532 | GCTTTCCT others(55): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG01169.hp1 others(31): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0181a0001c0001t0001g0210a0001c0001t0002g0009others(25): Show | 34 | 394 | 0.0863 | -62 | c.381 others(77): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HTR3B_chr11_113899796_113954079 | 113934407 | AAAAAAAG others(55): Show |
A | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 418 | 0.0024 | -62 | c.696 others(79): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3238072 | TGTAGCTT others(55): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG03239.hp1 |
a0024a0042 | a0024c0046a0024c0047a0042c0048 | a0024c0046t0008a0024c0047t0008a0042c0048t0008 | a0024c0046t0008g0257a0024c0047t0008g0258a0042c0048t0008g0259 | 3 | 294 | 0.0102 | -62 | c.889 others(79): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 64/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
IER3IP1_chr18_47147834_47181364 | 47180691 | TAGAGAAA others(55): Show |
T | upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 378 | 0.0027 | -62 | c.-44 others(73): Show |
IER3IP1 | ENSG00000134049.6 | transcript | ENST00000256433.6 | protein_coding | 4328 | chr18 | TogoVar | |||||||
IFNAR2_chr21_33224938_33270664 | 33239754 | GGGCCCAG others(55): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0012a0001c0014others(7): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(39): Show | a0001c0001t0003g0018a0001c0001t0003g0149a0001c0001t0003g0182others(208): Show | 227 | 424 | 0.5354 | -62 | c.-83 others(79): Show |
IFNAR2 | ENSG00000159110.22 | transcript | ENST00000342136.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IFT140_chr16_1505427_1617072 | 1507811 | GGTGTGTG others(55): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(95): Show |
a0001a0003a0004others(9): Show | a0001c0002a0001c0004a0001c0008others(20): Show | a0001c0002t0001a0001c0002t0005a0001c0002t0010others(23): Show | a0001c0002t0001g0005a0001c0002t0001g0013a0001c0002t0001g0041others(95): Show | 98 | 334 | 0.2934 | -62 | c.*30 others(73): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 2615 | chr16 | TogoVar | |||||||
IGF2R_chr6_159964082_160116504 | 160100723 | CCTTTTTT others(55): Show |
C | intron_variant | MODIFIER | HG01258.hp2 HG01358.hp1 HG01361.hp2 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0007others(2): Show | a0001c0001t0002g0293a0001c0001t0003g0249a0001c0001t0003g0256others(4): Show | 8 | 310 | 0.0258 | -62 | c.684 others(81): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 45/47 | chr6 | TogoVar | |||||||
IGSF6_chr16_21634550_21657608 | 21650109 | CTGCACTC others(55): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 412 | 0.0024 | -62 | c.67+ others(77): Show |
IGSF6 | ENSG00000140749.9 | transcript | ENST00000268389.6 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
IL17RD_chr3_57084982_57170353 | 57127297 | TATATATA others(55): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0325 | 1 | 354 | 0.0028 | -62 | c.127 others(79): Show |
IL17RD | ENSG00000144730.19 | transcript | ENST00000296318.12 | protein_coding | 1/12 | chr3 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132559639 | CTTACTCA others(55): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03139.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 5 | 204 | 0.0245 | -62 | c.75+ others(79): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IPCEF1_chr6_154149496_154361803 | 154357860 | TAAAATAT others(55): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0231 | 1 | 264 | 0.0038 | -62 | c.-13 others(73): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1058 | chr6 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62598430 | TTCTCTCT others(55): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01069.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0006t0001 | a0001c0001t0001g0054a0001c0001t0001g0105a0001c0001t0001g0106others(12): Show | 15 | 330 | 0.0455 | -62 | c.267 others(81): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149368853 | CATGTATA others(55): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0014 | a0009c0014t0002 | a0009c0014t0002g0134 | 1 | 252 | 0.0040 | -62 | c.139 others(83): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IRF5_chr7_128932927_128955038 | 128936938 | CAAGGGGA others(55): Show |
C | upstream_gene_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 404 | 0.0025 | -62 | c.-11 others(73): Show |
IRF5 | ENSG00000128604.21 | transcript | ENST00000357234.10 | protein_coding | 988 | chr7 | TogoVar | |||||||
ISG20_chr15_88634016_88661483 | 88652420 | TCCCCCTC others(55): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0263 | 1 | 436 | 0.0023 | -62 | c.429 others(77): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ISG20_chr15_88634016_88661483 | 88652445 | TCTCCTCC others(55): Show |
T | intron_variant | MODIFIER | NA18953.hp1 NA19058.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0003 | a0001c0002t0003g0238a0001c0005t0003g0162 | 2 | 436 | 0.0046 | -62 | c.429 others(77): Show |
ISG20 | ENSG00000172183.16 | transcript | ENST00000306072.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37511994 | TTTTCTTT others(55): Show |
T | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0031 | 1 | 168 | 0.0060 | -62 | c.898 others(79): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37512108 | CCTTCCTT others(55): Show |
C | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 168 | 0.0060 | -62 | c.898 others(79): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ITGAM_chr16_31254975_31337877 | 31302424 | CTTTCTTC others(55): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02630.hp1 others(10): Show |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0001a0001c0005t0004g0149a0001c0005t0004g0150others(9): Show | 13 | 244 | 0.0533 | -62 | c.170 others(81): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31334551 | CTTCCTCC others(55): Show |
C | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0123 | 1 | 244 | 0.0041 | -62 | c.*28 others(73): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1675 | chr16 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24251347 | ATGTGTGT others(55): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0170 | 1 | 224 | 0.0045 | -62 | c.312 others(79): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 25/39 | chr2 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124110055 | GATATATA others(55): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 |
a0001 | a0001c0020 | a0001c0020t0008 | a0001c0020t0008g0083a0001c0020t0008g0084 | 2 | 116 | 0.0172 | -62 | c.73+ others(79): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79830693 | AGACAGAG others(55): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 312 | 0.0032 | -62 | c.-11 others(83): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79830880 | TACAGAGC others(55): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02615.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0026others(8): Show | 11 | 312 | 0.0353 | -62 | c.-11 others(83): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79831500 | GACAGAGC others(55): Show |
G | intron_variant | MODIFIER | HG01074.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013 | 2 | 312 | 0.0064 | -62 | c.-11 others(83): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79831616 | GCCCTGCG others(55): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0022a0001c0005t0001g0227 | 2 | 312 | 0.0064 | -62 | c.-11 others(83): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20802103 | ATATATAT others(55): Show |
A | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0046 | 1 | 80 | 0.0125 | -62 | c.289 others(81): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21519524 | GTGTATGT others(55): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01517.hp1 HG01517.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0013others(35): Show | 38 | 80 | 0.4750 | -62 | c.61+ others(81): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar |