| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ROBO2_chr3_77035099_77654964 | 77290909 | CCCCAGAC others(1418): Show |
C | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 160 | 0.0063 | -1425 | c.389 others(21): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | chr3 | TogoVar | ||||||
| GANC_chr15_42268201_42358666 | 42293541 | TTGATACT others(1417): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 |
a0008 | a0008c0011a0008c0025 | a0008c0011t0009a0008c0025t0009 | a0008c0011t0009g0012a0008c0025t0009g0014 | 2 | 262 | 0.0076 | -1424 | c.512 others(16): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744758 | CGGGGGTC others(1417): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0289 | 1 | 366 | 0.0027 | -1424 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744727 | GCCGTGGA others(1416): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0018 | 1 | 366 | 0.0027 | -1423 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745695 | TCCGTGGA others(1416): Show |
T | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0163 | 1 | 366 | 0.0027 | -1423 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MUC12_chr7_100964565_101023936 | 100996382 | GACCAGGC others(1415): Show |
G | disruptive_inframe_deletion | MODERATE | NA19066.hp1 | a0206 | a0206c0077 | a0206c0077t0001 | a0206c0077t0001g0123 | 1 | 342 | 0.0029 | -1422 | c.609 others(9): Show |
p.Leu others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 6151/16366 | 6093/16008 | 2031/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| MUC12_chr7_100964565_101023936 | 100996789 | GCCTTCCA others(1415): Show |
G | disruptive_inframe_deletion | MODERATE | HG02109.hp1 HG02602.hp1 HG02630.hp1 others(9): Show |
a0004a0007a0036others(2): Show | a0004c0012a0004c0013a0004c0079others(4): Show | a0004c0012t0001a0004c0013t0001a0004c0079t0001others(4): Show | a0004c0012t0001g0287a0004c0012t0001g0288a0004c0013t0001g0082others(8): Show | 12 | 342 | 0.0351 | -1422 | c.677 others(9): Show |
p.Thr others(15): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 6834/16366 | 6776/16008 | 2259/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| PCGF3_chr4_700832_775089 | 745099 | CCCCGGGG others(1414): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0194 | 1 | 366 | 0.0027 | -1421 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SESN3_chr11_95160513_95236202 | 95188000 | TGTATCTC others(1414): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0355 | 1 | 392 | 0.0026 | -1421 | c.525 others(16): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 4/9 | chr11 | TogoVar | ||||||
| TBX15_chr1_118878047_118993343 | 118939575 | AAAGTACC others(1414): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020a0001c0001t0002g0026 | 2 | 364 | 0.0055 | -1421 | c.206 others(17): Show |
TBX15 | ENSG00000092607.15 | transcript | ENST00000369429.5 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932465 | GAGAGGAA others(1413): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03704.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0133a0002c0001t0157 | a0001c0002t0133g0297a0002c0001t0157g0166 | 2 | 386 | 0.0052 | -1420 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745156 | CCCGGGGT others(1413): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG03831.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0005t0021 | a0001c0001t0008g0338a0001c0005t0021g0269 | 2 | 366 | 0.0055 | -1420 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ANO7_chr2_241183677_241230976 | 241205167 | GCTGACAG others(1412): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0007 | a0007c0029 | a0007c0029t0022 | a0007c0029t0022g0063a0007c0029t0022g0065 | 2 | 396 | 0.0051 | -1419 | c.980 others(15): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASXL2_chr2_25728753_25883487 | 25864040 | ATAGAAGT others(1412): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0217 | 1 | 222 | 0.0045 | -1419 | c.57+ others(17): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| PPARD_chr6_35337558_35433178 | 35365214 | GCTCCACC others(1410): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03195.hp2 HG03225.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007 | a0001c0001t0007g0021a0001c0001t0007g0022a0001c0001t0007g0023others(2): Show | 5 | 238 | 0.0210 | -1417 | c.-10 others(21): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMYD3_chr1_245744347_246512279 | 245974913 | GGCCCAGG others(1409): Show |
G | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 150 | 0.0067 | -1416 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975493 | CAGGGAAA others(1409): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0119 | 1 | 150 | 0.0067 | -1416 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SUCLG2_chr3_67369719_67659612 | 67511778 | ATTTTGCC others(1409): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02970.hp1 HG03041.hp2 others(3): Show |
a0004a0006a0013 | a0004c0005a0006c0007a0013c0009 | a0004c0005t0001a0006c0007t0002a0006c0007t0003others(1): Show | a0004c0005t0001g0005a0004c0005t0001g0264a0004c0005t0001g0265others(3): Show | 6 | 280 | 0.0214 | -1416 | c.661 others(17): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
| TRMT44_chr4_8435777_8481555 | 8459441 | CTTGGGGA others(1409): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 410 | 0.0024 | -1416 | c.120 others(19): Show |
TRMT44 | ENSG00000155275.19 | transcript | ENST00000389737.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CCR6_chr6_167118096_167144141 | 167129525 | TGCTCCTG others(1408): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02895.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0240a0001c0001t0007g0241a0001c0001t0007g0242 | 3 | 460 | 0.0065 | -1415 | c.-98 others(17): Show |
CCR6 | ENSG00000112486.18 | transcript | ENST00000341935.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RAB21_chr12_71749863_71805286 | 71795378 | GGAGAAAT others(1408): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(174): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0015others(77): Show | a0001c0001t0006g0015a0001c0001t0006g0188a0001c0001t0006g0189others(137): Show | 177 | 380 | 0.4658 | -1415 | c.*97 others(12): Show |
RAB21 | ENSG00000080371.6 | transcript | ENST00000261263.5 | protein_coding | 7/7 | 9707 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| SLC66A2_chr18_79897420_79956653 | 79919587 | CGGGAACC others(1408): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0279 | 1 | 352 | 0.0028 | -1415 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| CLSTN2_chr3_139930185_140582397 | 140548746 | AGGCCATA others(1406): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02135.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0069a0001c0001t0001g0076a0001c0001t0035g0082 | 3 | 110 | 0.0273 | -1413 | c.167 others(19): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140548838 | GCATGATC others(1406): Show |
G | intron_variant | MODIFIER | NA19087.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 110 | 0.0091 | -1413 | c.167 others(19): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140549274 | CTATAAAT others(1406): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0016 | a0002c0016t0015 | a0002c0016t0015g0088 | 1 | 110 | 0.0091 | -1413 | c.167 others(19): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| FAM204A_chr10_118292925_118347324 | 118345911 | CTCCGCCT others(1406): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0114 | 1 | 394 | 0.0025 | -1413 | c.-52 others(11): Show |
FAM204A | ENSG00000165669.14 | transcript | ENST00000369183.9 | protein_coding | 3588 | chr10 | TogoVar | ||||||
| IPO11_chr5_62407763_62633582 | 62452133 | TACTCAGG others(1406): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02818.hp1 others(6): Show |
a0001a0002 | a0001c0002a0002c0011 | a0001c0002t0003a0002c0011t0003 | a0001c0002t0003g0162a0001c0002t0003g0163a0001c0002t0003g0164others(6): Show | 9 | 330 | 0.0273 | -1413 | c.516 others(16): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MUC17_chr7_101015081_101063859 | 101036478 | GGAAGAAC others(1406): Show |
G | disruptive_inframe_deletion | MODERATE | NA18982.hp1 | a0039 | a0039c0045 | a0039c0045t0003 | a0039c0045t0003g0137 | 1 | 366 | 0.0027 | -1413 | c.508 others(9): Show |
p.Ile others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 5140/14352 | 5085/13482 | 1695/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| EFEMP2_chr11_65861441_65877800 | 65874636 | ACTGTTGG others(1405): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(221): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(21): Show | 224 | 374 | 0.5989 | -1412 | c.-33 others(11): Show |
EFEMP2 | ENSG00000172638.13 | transcript | ENST00000307998.11 | protein_coding | 1837 | chr11 | TogoVar | ||||||
| LDHC_chr11_18407318_18457063 | 18452276 | ACTCTGTC others(1405): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 348 | 0.0029 | -1412 | c.*11 others(11): Show |
LDHC | ENSG00000166796.12 | transcript | ENST00000541669.6 | protein_coding | 214 | chr11 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393355 | CAGGTGGT others(1405): Show |
C | intron_variant | MODIFIER | HG02071.hp2 NA19012.hp1 |
a0001 | a0001c0011 | a0001c0011t0005a0001c0011t0013 | a0001c0011t0005g0207a0001c0011t0013g0208 | 2 | 346 | 0.0058 | -1412 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| MIB1_chr18_21735792_21875953 | 21782477 | TTCTGTAT others(1404): Show |
T | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 308 | 0.0033 | -1411 | c.908 others(17): Show |
MIB1 | ENSG00000101752.13 | transcript | ENST00000261537.7 | protein_coding | 6/20 | chr18 | TogoVar | ||||||
| BAZ1A_chr14_34747731_34880360 | 34786734 | AGTAGCTG others(1403): Show |
A | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 380 | 0.0026 | -1410 | c.151 others(18): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 12/26 | chr14 | TogoVar | ||||||
| HRNR_chr1_152207076_152229193 | 152213253 | TGAGCCAG others(1403): Show |
T | disruptive_inframe_deletion | MODERATE | HG00438.hp2 HG01109.hp1 HG02027.hp2 others(10): Show |
a0001 | a0001c0013a0001c0020a0001c0037others(3): Show | a0001c0013t0005a0001c0020t0001a0001c0037t0001others(3): Show | a0001c0013t0005g0018a0001c0013t0005g0182a0001c0020t0001g0021others(4): Show | 13 | 418 | 0.0311 | -1410 | c.696 others(9): Show |
p.Gly others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 8451/9629 | 6966/8553 | 2322/2850 | chr1 | TogoVar | ||
| HRNR_chr1_152207076_152229193 | 152215169 | CTGAGCTA others(1403): Show |
C | conservative_inframe_deletion | MODERATE | HG02145.hp1 | a0011 | a0011c0052 | a0011c0052t0004 | a0011c0052t0004g0177 | 1 | 418 | 0.0024 | -1410 | c.505 others(9): Show |
p.Arg others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6535/9629 | 5050/8553 | 1684/2850 | chr1 | TogoVar | ||
| HRNR_chr1_152207076_152229193 | 152216566 | CGGGAAGA others(1403): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(67): Show |
a0001a0016 | a0001c0001a0001c0003a0001c0038others(10): Show | a0001c0001t0002a0001c0001t0012a0001c0003t0003others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(15): Show | 70 | 418 | 0.1675 | -1410 | c.365 others(9): Show |
p.His others(15): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 5138/9629 | 3653/8553 | 1218/2850 | chr1 | TogoVar | ||
| SAMM50_chr22_43950442_44001529 | 43984831 | TATGTTGG others(1403): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0101a0001c0006t0001g0103a0001c0006t0001g0104others(4): Show | 7 | 378 | 0.0185 | -1410 | c.107 others(18): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1013627 | ACGGTGCC others(1402): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -1409 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GALNT18_chr11_11265877_11627005 | 11358071 | TGCCTCCA others(1402): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01071.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(9): Show | a0001c0001t0001g0101a0001c0001t0001g0111a0001c0001t0001g0112others(30): Show | 33 | 260 | 0.1269 | -1409 | c.109 others(21): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 6/10 | chr11 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1401): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0021a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0021t0006others(7): Show | a0001c0001t0003g0116a0001c0001t0003g0210a0001c0001t0007g0118others(12): Show | 15 | 236 | 0.0636 | -1408 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| RUSF1_chr16_31484475_31513391 | 31505063 | GTGGCCTC others(1400): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 378 | 0.0027 | -1407 | c.415 others(17): Show |
RUSF1 | ENSG00000140688.18 | transcript | ENST00000327237.7 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
| TRARG1_chr17_1274662_1305978 | 1296302 | TTCTCCTG others(1400): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0256 | 1 | 402 | 0.0025 | -1407 | c.520 others(15): Show |
TRARG1 | ENSG00000184811.4 | transcript | ENST00000333813.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241806161 | CCCCTCAG others(1399): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 314 | 0.0032 | -1406 | c.*19 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1875 | chr2 | TogoVar | ||||||
| KANK3_chr19_8317584_8348262 | 8346856 | GGAGGCTG others(1399): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(22): Show |
a0001a0006 | a0001c0001a0001c0030a0006c0006 | a0001c0001t0001a0001c0030t0001a0006c0006t0002 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0082others(22): Show | 25 | 406 | 0.0616 | -1406 | c.-50 others(11): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3595 | chr19 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806161 | CCCCTCAG others(1399): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 319 | 0.0031 | -1406 | c.-31 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3031 | chr2 | TogoVar | ||||||
| RAB19_chr7_140399058_140432974 | 140409776 | GAGGTCAG others(1399): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0338 | 1 | 442 | 0.0023 | -1406 | c.201 others(16): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2280759 | AGAGGGAG others(1398): Show |
A | intron_variant | MODIFIER | HG02293.hp2 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013a0003c0003t0002g0014 | 2 | 50 | 0.0400 | -1405 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 79819756 | TACAGGCA others(1398): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0024 | 1 | 24 | 0.0417 | -1405 | c.409 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1640971 | CTCCTGTG others(1397): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG01981.hp2 HG02004.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0002g0141others(3): Show | 6 | 223 | 0.0269 | -1404 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(1397): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0008 | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0014others(6): Show | 9 | 67 | 0.1343 | -1404 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar |