| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IL3RA_chrX_1331785_1387689 | 1367194 | CGCCGGGT others(146): Show |
C | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 115 | 0.0087 | -153 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1367266 | AGCCGGGT others(146): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0100 | 1 | 115 | 0.0087 | -153 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236481904 | CTATGTAT others(146): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0158 | 1 | 208 | 0.0048 | -153 | c.720 others(17): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
| KIR3DL1_chr19_54811468_54835778 | 54834472 | ATCTGGGC others(146): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01192.hp1 |
a0013 | a0013c0014 | a0013c0014t0009a0013c0014t0016 | a0013c0014t0009g0031a0013c0014t0016g0048 | 2 | 395 | 0.0051 | -153 | c.*41 others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 3695 | chr19 | TogoVar | |||||||
| LMF1_chr16_848634_975984 | 950051 | CGACAGAG others(146): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0005a0001c0006others(8): Show | a0001c0004t0001a0001c0004t0004a0001c0005t0001others(10): Show | a0001c0004t0001g0061a0001c0004t0004g0030a0001c0005t0001g0109others(25): Show | 28 | 294 | 0.0952 | -153 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
| LOC400499_chr16_11367015_11532247 | 11486218 | GTGGGTGG others(146): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00597.hp2 others(30): Show |
a0001a0013a0014others(22): Show | a0001c0001a0001c0062a0013c0064others(24): Show | a0001c0001t0003a0001c0062t0004a0013c0064t0003others(24): Show | a0001c0001t0003g0201a0001c0001t0003g0202a0001c0001t0003g0247others(30): Show | 33 | 310 | 0.1065 | -153 | c.201 others(18): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 15/66 | chr16 | TogoVar | |||||||
| MAEA_chr4_1284891_1345137 | 1333775 | TCACCCCC others(146): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0125a0001c0001t0001g0126a0001c0001t0001g0127others(26): Show | 31 | 388 | 0.0799 | -153 | c.765 others(16): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MAP3K15_chrX_19355059_19520508 | 19452233 | GAGAAGAG others(146): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02056.hp1 NA18906.hp1 others(4): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0012 | a0001c0001t0001a0001c0001t0002a0002c0002t0016others(1): Show | a0001c0001t0001g0053a0001c0001t0001g0070a0001c0001t0001g0098others(4): Show | 7 | 163 | 0.0429 | -153 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
| MCPH1_chr8_6401627_6653508 | 6505293 | ACATATAT others(146): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 HG02965.hp2 others(2): Show |
a0001a0009a0017others(1): Show | a0001c0001a0009c0037a0009c0070others(2): Show | a0001c0001t0001a0009c0037t0004a0009c0070t0029others(2): Show | a0001c0001t0001g0159a0009c0037t0004g0252a0009c0070t0029g0031others(2): Show | 5 | 262 | 0.0191 | -153 | c.221 others(19): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
| MLPH_chr2_237482251_237560322 | 237542753 | AGGGACAG others(146): Show |
A | intron_variant | MODIFIER | HG02886.hp2 HG02976.hp1 |
a0004 | a0004c0014 | a0004c0014t0002 | a0004c0014t0002g0260a0004c0014t0002g0261 | 2 | 286 | 0.0070 | -153 | c.153 others(17): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544992 | GGGGACAG others(146): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0123 | 1 | 286 | 0.0035 | -153 | c.154 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43495723 | AGGTGGTG others(146): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0171a0001c0001t0005g0246 | 2 | 250 | 0.0080 | -153 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43496650 | TGGTGGTG others(146): Show |
T | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 250 | 0.0040 | -153 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MPPED1_chr22_43407014_43512848 | 43496711 | GGTGGTGG others(146): Show |
G | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 250 | 0.0040 | -153 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| MYO1F_chr19_8515778_8582442 | 8543726 | CTGGTGGT others(146): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0277 | 1 | 342 | 0.0029 | -153 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
| MYT1L_chr2_1784113_2336275 | 2185455 | TCGAGTCC others(146): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02647.hp1 HG02717.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(14): Show | a0001c0001t0001g0079a0001c0001t0007g0029a0001c0001t0010g0034others(14): Show | 17 | 104 | 0.1635 | -153 | c.-42 others(21): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
| MYT1_chr20_64159452_64247253 | 64174445 | GTAGTTGT others(146): Show |
G | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 223 | 0.0045 | -153 | c.-99 others(17): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687440 | TAATATGT others(146): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0170a0001c0001t0001g0292a0001c0001t0001g0301others(2): Show | 5 | 352 | 0.0142 | -153 | c.*29 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2077 | chr15 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805418 | GCCCAGGG others(146): Show |
G | upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -153 | c.-38 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3774 | chr2 | TogoVar | |||||||
| NME7_chr1_169127531_169372797 | 169342667 | GTATATAT others(146): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 302 | 0.0033 | -153 | c.4-1 others(15): Show |
NME7 | ENSG00000143156.14 | transcript | ENST00000367811.8 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
| NOP14_chr4_2932936_2968406 | 2940955 | TGCCTTCG others(146): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02896.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0310a0001c0001t0004g0311a0001c0001t0004g0312others(2): Show | 5 | 422 | 0.0119 | -153 | c.219 others(17): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 15/17 | chr4 | TogoVar | |||||||
| NPAS1_chr19_47014837_47050775 | 47027550 | TCCTGTCT others(146): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(148): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(146): Show | 151 | 418 | 0.3612 | -153 | c.359 others(17): Show |
NPAS1 | ENSG00000130751.10 | transcript | ENST00000602212.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| NUDT6_chr4_122887577_122927597 | 122900205 | CAAATCCT others(146): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp2 HG02145.hp1 others(18): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0016a0001c0003t0001g0029a0001c0003t0001g0030others(14): Show | 21 | 368 | 0.0571 | -153 | c.499 others(17): Show |
NUDT6 | ENSG00000170917.14 | transcript | ENST00000304430.10 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
| NUDT6_chr4_122887577_122927597 | 122900300 | ACTATGCT others(146): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0141a0001c0004t0001g0142a0001c0004t0001g0143others(1): Show | 4 | 368 | 0.0109 | -153 | c.499 others(17): Show |
NUDT6 | ENSG00000170917.14 | transcript | ENST00000304430.10 | protein_coding | 3/4 | chr4 | TogoVar | |||||||
| NXNL1_chr19_17450425_17465926 | 17463767 | TGAAAGGA others(146): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp2 HG01074.hp2 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(10): Show | 35 | 408 | 0.0858 | -153 | c.-30 others(11): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2842 | chr19 | TogoVar | |||||||
| OTUD7A_chr15_31470398_31875673 | 31511214 | CACACATA others(146): Show |
C | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0183 | 1 | 244 | 0.0041 | -153 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 736518 | CCCTGAGC others(146): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0075 | 1 | 366 | 0.0027 | -153 | c.207 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 736850 | GCGGTGTC others(146): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0156a0001c0001t0002g0146a0001c0001t0002g0148others(155): Show | 158 | 366 | 0.4317 | -153 | c.207 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PDE4B_chr1_65787895_66379574 | 65847853 | GAAGATGA others(146): Show |
G | intron_variant | MODIFIER | HG03453.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0077a0001c0002t0001g0062 | 2 | 118 | 0.0170 | -153 | c.-71 others(19): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 401320 | GGCCCGCT others(146): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 216 | 0.0046 | -153 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| POR_chr7_75910155_75991855 | 75988727 | GGGCTGGA others(146): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 278 | 0.0036 | -153 | c.*22 others(11): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1873 | chr7 | TogoVar | |||||||
| PRKAG2_chr7_151551127_151882115 | 151874312 | GTATATGA others(146): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0019 | a0001c0001t0009g0004a0001c0001t0019g0003 | 2 | 252 | 0.0079 | -153 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
| PRKAG2_chr7_151551127_151882115 | 151874372 | TATGATGT others(146): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01070.hp2 HG01106.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0134a0001c0001t0001g0141a0001c0001t0002g0133others(13): Show | 16 | 252 | 0.0635 | -153 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
| PRKCA_chr17_66297613_66815743 | 66799392 | TGGTGGTG others(146): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0053 | a0001c0006t0053g0091 | 1 | 178 | 0.0056 | -153 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799415 | GTGGTGGT others(146): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0026a0001c0002t0083 | a0001c0002t0026g0123a0001c0002t0083g0138 | 2 | 178 | 0.0112 | -153 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PTP4A3_chr8_141387021_141437454 | 141430013 | GCACAGTC others(146): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0059a0001c0001t0001g0289 | 3 | 323 | 0.0093 | -153 | c.405 others(15): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PXDN_chr2_1626887_1749515 | 1679569 | GGTGTGTG others(146): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0020 | a0001c0020t0003 | a0001c0020t0003g0015 | 1 | 322 | 0.0031 | -153 | c.730 others(15): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 7/22 | chr2 | TogoVar | |||||||
| RASA3_chr13_113972783_114137623 | 114117125 | ATGCATGT others(146): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp1 HG01167.hp1 others(17): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0001g0054a0001c0001t0001g0059a0001c0001t0006g0011others(17): Show | 20 | 67 | 0.2985 | -153 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| RGS20_chr8_53846795_53964303 | 53948674 | ATATAAGA others(146): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 258 | 0.0039 | -153 | c.743 others(17): Show |
RGS20 | ENSG00000147509.14 | transcript | ENST00000297313.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RHPN1_chr8_143363876_143389221 | 143373302 | TGGGTTCC others(146): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 426 | 0.0024 | -153 | c.61- others(15): Show |
RHPN1 | ENSG00000158106.14 | transcript | ENST00000289013.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7637575 | AACTGTTT others(146): Show |
A | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 308 | 0.0033 | -153 | c.283 others(15): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
| RPH3AL_chr17_207389_357807 | 242249 | TTACCTTC others(146): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG01943.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0061a0001c0001t0004g0008a0001c0001t0008g0130others(1): Show | 4 | 133 | 0.0301 | -153 | c.613 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877167 | ATATATAT others(146): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(19): Show |
a0001 | a0001c0002a0001c0005a0001c0009 | a0001c0002t0001a0001c0005t0001a0001c0009t0007 | a0001c0002t0001g0153a0001c0005t0001g0240a0001c0005t0001g0241others(19): Show | 22 | 314 | 0.0701 | -153 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877506 | ATATATAT others(146): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0265 | 1 | 314 | 0.0032 | -153 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SCN11A_chr3_38840764_39056944 | 38877628 | CTATATAT others(146): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 1 | 314 | 0.0032 | -153 | c.339 others(19): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 23/29 | chr3 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 3975897 | AGCTGCCA others(146): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0041 | a0002c0041t0007 | a0002c0041t0007g0108 | 1 | 116 | 0.0086 | -153 | c.199 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SH3BP4_chr2_234947017_235060714 | 235038238 | TTATATAT others(146): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0150a0003c0007t0002g0151 | 2 | 348 | 0.0058 | -153 | c.119 others(17): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 636568 | TATAAAGA others(146): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG03195.hp2 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0140a0001c0001t0144a0001c0001t0177others(1): Show | a0001c0001t0140g0152a0001c0001t0144g0162a0001c0001t0177g0113others(1): Show | 4 | 220 | 0.0182 | -153 | c.486 others(17): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| SIGIRR_chr11_400716_419999 | 401320 | GGCCCGCT others(146): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 242 | 0.0041 | -153 | c.*44 others(11): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4395 | chr11 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070238 | CCCCCAGC others(146): Show |
C | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0046 | 1 | 118 | 0.0085 | -153 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar |