| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIAA1958_chr9_112481827_112674397 | 112514594 | CCACCCGG others(170): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 308 | 0.0033 | -177 | c.-25 others(19): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
| KIAA1958_chr9_112481827_112674397 | 112515100 | CGCCCGGC others(170): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00558.hp1 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0130a0001c0001t0001g0132a0001c0001t0001g0134others(32): Show | 35 | 308 | 0.1136 | -177 | c.-25 others(19): Show |
KIAA1958 | ENSG00000165185.15 | transcript | ENST00000337530.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| KNDC1_chr10_133155219_133231412 | 133208356 | CCCCAACC others(170): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(172): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0068others(43): Show | a0001c0001t0002a0001c0004t0007a0001c0068t0002others(58): Show | a0001c0001t0002g0081a0001c0004t0007g0144a0001c0068t0002g0114others(170): Show | 175 | 332 | 0.5271 | -177 | c.379 others(19): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 20/29 | chr10 | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409849 | TGGGAGGT others(170): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0006 | 1 | 370 | 0.0027 | -177 | c.-37 others(11): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 3515 | chr12 | TogoVar | ||||||
| LATS2_chr13_20968036_21066586 | 21007585 | ATAGTATA others(170): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA19058.hp2 |
a0002 | a0002c0006 | a0002c0006t0004 | a0002c0006t0004g0164a0002c0006t0004g0210 | 2 | 316 | 0.0063 | -177 | c.343 others(19): Show |
LATS2 | ENSG00000150457.9 | transcript | ENST00000382592.5 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
| LCN15_chr9_136754634_136769518 | 136769341 | CCCCCGCC others(170): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 356 | 0.0028 | -177 | c.-50 others(11): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4824 | chr9 | TogoVar | ||||||
| LIPG_chr18_49557057_49604185 | 49579034 | GAGAGGGA others(170): Show |
G | intron_variant | MODIFIER | NA19030.hp2 | a0004 | a0004c0006 | a0004c0006t0029 | a0004c0006t0029g0266 | 1 | 384 | 0.0026 | -177 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
| LIPG_chr18_49557057_49604185 | 49579046 | GAGAGGGA others(170): Show |
G | intron_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0006 | a0004c0006t0075 | a0004c0006t0075g0264 | 1 | 384 | 0.0026 | -177 | c.794 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | chr18 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 896028 | CGGAGGGG others(170): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02818.hp1 |
a0001a0006 | a0001c0022a0006c0021 | a0001c0022t0001a0006c0021t0001 | a0001c0022t0001g0241a0001c0022t0001g0268a0006c0021t0001g0020 | 3 | 294 | 0.0102 | -177 | c.664 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar | ||||||
| LRIG2_chr1_113068198_113137260 | 113070139 | GGGGGGGG others(170): Show |
G | upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 268 | 0.0037 | -177 | c.-32 others(11): Show |
LRIG2 | ENSG00000198799.12 | transcript | ENST00000361127.6 | protein_coding | 3058 | chr1 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | AGAGCAGC others(170): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 398 | 0.0050 | -177 | c.-44 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531682 | AGGCTAGA others(170): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG02056.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0002c0002t0001g0001 | 9 | 398 | 0.0226 | -177 | c.-49 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4650 | chr8 | TogoVar | ||||||
| LRRC8C_chr1_89628120_89724533 | 89671283 | GGAGGGAA others(170): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0208a0001c0001t0012g0211 | 2 | 268 | 0.0075 | -177 | c.-4- others(17): Show |
LRRC8C | ENSG00000171488.15 | transcript | ENST00000370454.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| MAPKAP1_chr9_125432394_125712208 | 125623788 | GCCGTCCG others(170): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02622.hp2 HG03453.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010 | a0001c0001t0001g0087a0001c0001t0001g0106a0001c0001t0001g0236others(6): Show | 9 | 300 | 0.0300 | -177 | c.498 others(19): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
| MBP_chr18_76973833_77137783 | 77028609 | CGGGCGGG others(170): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(90): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0014a0001c0001t0001g0022a0001c0001t0001g0027others(89): Show | 93 | 396 | 0.2349 | -177 | c.140 others(19): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
| MGRN1_chr16_4619826_4695972 | 4648666 | ACTCTTCC others(170): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02015.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0018 | a0001c0001t0001g0111a0001c0001t0001g0223a0001c0001t0001g0255others(3): Show | 6 | 334 | 0.0180 | -177 | c.89- others(15): Show |
MGRN1 | ENSG00000102858.13 | transcript | ENST00000262370.12 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| MUC5B_chr11_1218066_1267172 | 1255550 | GCCTGTGC others(170): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01884.hp2 HG02257.hp1 others(8): Show |
a0008a0009a0071others(2): Show | a0008c0006a0008c0057a0009c0010others(3): Show | a0008c0006t0001a0008c0057t0001a0009c0010t0001others(3): Show | a0008c0006t0001g0020a0008c0006t0001g0021a0008c0006t0001g0090others(5): Show | 11 | 350 | 0.0314 | -177 | c.160 others(18): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 37/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 1798021 | ATCCGGCA others(170): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0021a0001c0005t0024a0001c0009t0022others(1): Show | a0001c0001t0021g0053a0001c0005t0024g0063a0001c0009t0022g0062others(1): Show | 4 | 104 | 0.0385 | -177 | c.327 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 23/24 | chr2 | TogoVar | ||||||
| MYZAP_chr15_57586904_57690364 | 57687974 | TAATGTGT others(170): Show |
T | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0340a0001c0003t0003g0341 | 2 | 352 | 0.0057 | -177 | c.*34 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2611 | chr15 | TogoVar | ||||||
| NAV3_chr12_77825894_78218010 | 77982222 | AAAGATGA others(170): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(59): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0017a0001c0001t0001g0125a0001c0001t0002g0139others(59): Show | 62 | 186 | 0.3333 | -177 | c.672 others(19): Show |
NAV3 | ENSG00000067798.16 | transcript | ENST00000397909.7 | protein_coding | 5/39 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NDC80_chr18_2566557_2621635 | 2589680 | TAGTATAT others(170): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0071others(13): Show | 16 | 402 | 0.0398 | -177 | c.871 others(15): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NDC80_chr18_2566557_2621635 | 2614440 | AAAGAAAG others(170): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 402 | 0.0025 | -177 | c.179 others(19): Show |
NDC80 | ENSG00000080986.13 | transcript | ENST00000261597.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NDUFAF1_chr15_41382353_41407496 | 41383150 | CGCCCGGC others(170): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 354 | 0.0028 | -177 | c.*41 others(11): Show |
NDUFAF1 | ENSG00000137806.10 | transcript | ENST00000260361.9 | protein_coding | 4202 | chr15 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805863 | CTCCCCCC others(170): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -177 | c.-34 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3329 | chr2 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79521654 | GTGTGTGT others(170): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01256.hp2 HG01257.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0015a0001c0027others(3): Show | a0001c0001t0021a0001c0001t0024a0001c0015t0002others(6): Show | a0001c0001t0021g0204a0001c0001t0024g0171a0001c0015t0002g0067others(12): Show | 15 | 322 | 0.0466 | -177 | c.278 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| NHEJ1_chr2_219064357_219165815 | 219102849 | CAAAAAAT others(170): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013 | a0001c0001t0008g0140a0001c0001t0008g0141a0001c0001t0008g0142others(6): Show | 9 | 350 | 0.0257 | -177 | c.589 others(19): Show |
NHEJ1 | ENSG00000187736.14 | transcript | ENST00000356853.10 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
| NPFFR2_chr4_72027000_72153305 | 72080787 | ACTCTCAG others(170): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0090a0001c0001t0002g0089a0001c0001t0002g0167others(5): Show | 8 | 344 | 0.0233 | -177 | c.-7- others(17): Show |
NPFFR2 | ENSG00000056291.19 | transcript | ENST00000308744.12 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| NT5C2_chr10_103083038_103198272 | 103129316 | GCCCGGCC others(170): Show |
G | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0125 | 1 | 340 | 0.0029 | -177 | c.175 others(18): Show |
NT5C2 | ENSG00000076685.19 | transcript | ENST00000404739.8 | protein_coding | 4/18 | chr10 | TogoVar | ||||||
| NUP155_chr5_37283137_37376106 | 37295860 | CGTCCGGG others(170): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0029a0001c0011t0028 | a0001c0004t0029g0002a0001c0011t0028g0003 | 2 | 300 | 0.0067 | -177 | c.379 others(19): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 32/34 | chr5 | TogoVar | ||||||
| NUP155_chr5_37283137_37376106 | 37295928 | GCCTCTGC others(170): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00735.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0020a0001c0002t0025others(5): Show | a0001c0002t0006g0272a0001c0002t0006g0277a0001c0002t0006g0278others(16): Show | 19 | 300 | 0.0633 | -177 | c.379 others(19): Show |
NUP155 | ENSG00000113569.16 | transcript | ENST00000231498.8 | protein_coding | 32/34 | chr5 | TogoVar | ||||||
| NUSAP1_chr15_41327881_41386046 | 41383150 | CGCCCGGC others(170): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 292 | 0.0034 | -177 | c.*29 others(11): Show |
NUSAP1 | ENSG00000137804.14 | transcript | ENST00000559596.6 | protein_coding | 2105 | chr15 | TogoVar | ||||||
| OSBPL5_chr11_3082107_3170310 | 3103716 | AGGCTCTG others(170): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0127 | 1 | 326 | 0.0031 | -177 | c.124 others(17): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 10/21 | chr11 | TogoVar | ||||||
| P2RY8_chrX_1457581_1542185 | 1468787 | CCTCTCCC others(170): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01175.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0030a0002c0002t0004others(1): Show | a0001c0001t0001g0022a0001c0001t0001g0039a0001c0001t0001g0043others(8): Show | 11 | 114 | 0.0965 | -177 | c.-24 others(17): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| PABPC1L_chr20_44905060_44944316 | 44924922 | AGCTCCCA others(170): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02300.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0002a0001c0005t0003 | a0001c0005t0002g0005a0001c0005t0002g0052a0001c0005t0002g0219others(1): Show | 8 | 396 | 0.0202 | -177 | c.972 others(15): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PERM1_chr1_970198_987093 | 977682 | CGCCTCCC others(170): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0192 | 1 | 408 | 0.0025 | -177 | c.214 others(19): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| PIP5K1A_chr1_151193552_151254531 | 151251260 | CAAAAAAA others(170): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp2 HG03471.hp2 HG03540.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0147a0002c0004t0002g0148a0002c0004t0002g0149 | 3 | 334 | 0.0090 | -177 | c.*33 others(11): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | ||||||
| PITPNM3_chr17_6446263_6561555 | 6519181 | CAAAAAAT others(170): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0128 | 1 | 218 | 0.0046 | -177 | c.226 others(17): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 3/19 | chr17 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109342555 | CCCCGTCC others(170): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0197 | 1 | 346 | 0.0029 | -177 | c.200 others(19): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 402106 | CCCCCGAC others(170): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0180 | 1 | 216 | 0.0046 | -177 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLEKHN1_chr1_961482_980865 | 977682 | CGCCTCCC others(170): Show |
C | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0026 | 1 | 422 | 0.0024 | -177 | c.*31 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1818 | chr1 | TogoVar | ||||||
| POLDIP3_chr22_42578721_42619883 | 42618373 | TAAAAATA others(170): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0016 | a0001c0001t0020g0217a0001c0003t0016g0037 | 3 | 360 | 0.0083 | -177 | c.-36 others(11): Show |
POLDIP3 | ENSG00000100227.19 | transcript | ENST00000252115.10 | protein_coding | 3491 | chr22 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151874123 | ATATGATG others(170): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0030 | a0001c0001t0004g0238a0001c0001t0005g0239a0001c0001t0030g0222 | 3 | 252 | 0.0119 | -177 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKAG2_chr7_151551127_151882115 | 151874279 | ATATATGT others(170): Show |
A | intron_variant | MODIFIER | HG02922.hp2 HG03486.hp1 |
a0004 | a0004c0008 | a0004c0008t0002a0004c0008t0006 | a0004c0008t0002g0207a0004c0008t0006g0206 | 2 | 252 | 0.0079 | -177 | c.114 others(17): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66799406 | GTGGTGGT others(170): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 178 | 0.0056 | -177 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2123361 | GGTGGTTA others(170): Show |
G | intron_variant | MODIFIER | HG02155.hp1 HG02258.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0011 | a0001c0001t0001g0048a0001c0001t0001g0159a0001c0001t0001g0176others(1): Show | 4 | 286 | 0.0140 | -177 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PRPF6_chr20_63976132_64038100 | 64011752 | ATTTCTTT others(170): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0005 | a0001c0001t0004g0210a0001c0001t0004g0211a0001c0001t0004g0212others(2): Show | 5 | 294 | 0.0170 | -177 | c.152 others(17): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PRPF6_chr20_63976132_64038100 | 64011805 | TGGCTTCT others(170): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 294 | 0.0034 | -177 | c.152 others(18): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PSMD4_chr1_151249734_151272479 | 151251260 | CAAAAAAA others(170): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03471.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055a0001c0002t0001g0199 | 3 | 420 | 0.0071 | -177 | c.-35 others(11): Show |
PSMD4 | ENSG00000159352.16 | transcript | ENST00000368884.8 | protein_coding | 3473 | chr1 | TogoVar | ||||||
| QSOX2_chr9_136201333_136250812 | 136237293 | TCACCTGG others(170): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0036a0001c0001t0012g0222 | 3 | 392 | 0.0077 | -177 | c.328 others(17): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| RAB2A_chr8_60511987_60628644 | 60547574 | GGGCTCCT others(170): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0014a0001c0001t0022others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0004others(74): Show | 78 | 358 | 0.2179 | -177 | c.47- others(17): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |