| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ANKRD44_chr2_196981662_197315780 | 197277031 | CATTCTCC others(1422): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0052 | 1 | 112 | 0.0089 | -1429 | c.27+ others(17): Show |
ANKRD44 | ENSG00000065413.20 | transcript | ENST00000282272.15 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
| DHRS12_chr13_51762993_51809163 | 51774693 | CCTACAGT others(1422): Show |
C | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 411 | 0.0024 | -1429 | c.363 others(15): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
| HAUS1_chr18_46099385_46133333 | 46126045 | GGTGGGTG others(1422): Show |
G | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 370 | 0.0027 | -1429 | c.786 others(15): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| SLC39A10_chr2_195652226_195742700 | 195696535 | CAACTATT others(1422): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0268 | 1 | 374 | 0.0027 | -1429 | c.121 others(20): Show |
SLC39A10 | ENSG00000196950.14 | transcript | ENST00000359634.10 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943266 | CTGCACCG others(1420): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0038 | a0001c0001t0015g0083 a0001c0003t0038g0081 |
2 | 106 | 0.0189 | -1427 | c.*63 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2650 | chr20 | TogoVar | |||||||
| CDH4_chr20_61247261_61945617 | 61943666 | CTGCACCG others(1420): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0027 | 1 | 104 | 0.0096 | -1427 | c.*67 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 3050 | chr20 | TogoVar | |||||||
| DNAH12_chr3_57288700_57549344 | 57539738 | CGAGTAGC others(1419): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0204 | 1 | 264 | 0.0038 | -1426 | c.170 others(17): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 2/73 | chr3 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 758342 | CTCCGGAC others(1419): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02717.hp1 |
a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0120 a0001c0004t0020g0250 a0001c0004t0020g0321 |
3 | 363 | 0.0083 | -1426 | c.463 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092156 | CGCGCCTA others(1419): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254 | 1 | 266 | 0.0038 | -1426 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392807 | GGGGAAAG others(1419): Show |
G | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01243.hp1 others(3): Show |
a0002 | a0002c0003a0002c0009 | a0002c0003t0025a0002c0003t0050a0002c0003t0151others(2): Show | a0002c0003t0025g0271 a0002c0003t0050g0013 a0002c0003t0050g0014 others(3): Show |
6 | 342 | 0.0175 | -1426 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| APPBP2_chr17_60438158_60531242 | 60502487 | AACAATCT others(1418): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0009a0002c0002t0014a0002c0002t0018others(9): Show | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | 144 | 0.1736 | -1425 | c.139 others(17): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
| GOLPH3_chr5_32119716_32179319 | 32160991 | TGGGAGGC others(1418): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0037 others(5): Show |
11 | 378 | 0.0291 | -1425 | c.225 others(19): Show |
GOLPH3 | ENSG00000113384.14 | transcript | ENST00000265070.7 | protein_coding | 1/3 | chr5 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744929 | CGGGGGTC others(1418): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026 | a0001c0001t0025g0116 a0001c0001t0026g0118 a0001c0001t0026g0119 |
3 | 359 | 0.0084 | -1425 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 746011 | CGGGGGTC others(1418): Show |
C | intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0071 | 1 | 362 | 0.0028 | -1425 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| 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 | a0008c0011t0009g0017 a0008c0025t0009g0019 |
2 | 260 | 0.0077 | -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 | a0001c0001t0004g0004 | 1 | 362 | 0.0028 | -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 | a0001c0001t0058 | a0001c0001t0058g0052 | 1 | 286 | 0.0035 | -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 | a0001c0001t0002g0168 | 1 | 294 | 0.0034 | -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 | a0134 | a0134c0079 | a0134c0079t0001 | a0134c0079t0001g0123 | 1 | 340 | 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 |
a0012a0020a0036others(2): Show | a0012c0018a0012c0019a0012c0081others(4): Show | a0012c0018t0001a0012c0019t0001a0012c0081t0001others(4): Show | a0012c0018t0001g0284 a0012c0018t0001g0285 a0012c0019t0001g0084 others(8): Show |
12 | 340 | 0.0353 | -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 | a0001c0001t0003g0196 | 1 | 359 | 0.0028 | -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 | a0001c0001t0023g0354 | 1 | 390 | 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 | a0001c0001t0002g0024 a0001c0001t0002g0030 |
2 | 362 | 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 | a0001c0002t0116a0002c0001t0132 | a0001c0002t0116g0284 a0002c0001t0132g0179 |
2 | 337 | 0.0059 | -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 | a0001c0001t0008g0349 a0001c0005t0021g0265 |
2 | 338 | 0.0059 | -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 | a0007c0029t0022g0078 a0007c0029t0022g0080 |
2 | 394 | 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 | 220 | 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 | a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 others(2): Show |
5 | 236 | 0.0212 | -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 | a0001c0001t0001g0088 | 1 | 125 | 0.0080 | -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 | a0002c0004t0001g0134 | 1 | 123 | 0.0081 | -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 |
a0004a0005a0009 | a0004c0005a0005c0007a0009c0009 | a0004c0005t0001a0005c0007t0002a0005c0007t0003others(1): Show | a0004c0005t0001g0005 a0004c0005t0001g0264 a0004c0005t0001g0265 others(3): Show |
6 | 278 | 0.0216 | -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 | a0001c0001t0001g0249 | 1 | 408 | 0.0025 | -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 | a0001c0001t0007g0032 | 3 | 458 | 0.0066 | -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 |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(55): Show | a0001c0001t0006g0007 a0001c0001t0006g0014 a0001c0001t0006g0060 others(112): Show |
177 | 378 | 0.4683 | -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 | a0001c0001t0007g0282 | 1 | 266 | 0.0038 | -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 | a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0035g0082 |
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 | 107 | 0.0093 | -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 | a0001c0001t0008g0113 | 1 | 392 | 0.0026 | -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 |
a0001a0003 | a0001c0002a0003c0011 | a0001c0002t0003a0003c0011t0003 | a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 others(6): Show |
9 | 328 | 0.0274 | -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 | a0052 | a0052c0033 | a0052c0033t0003 | a0052c0033t0003g0136 | 1 | 364 | 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(220): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(21): Show |
223 | 372 | 0.5995 | -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 | a0001c0001t0001g0274 | 1 | 346 | 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 | a0001c0011t0004a0001c0011t0013 | a0001c0011t0004g0208 a0001c0011t0013g0209 |
2 | 312 | 0.0064 | -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 | a0001c0001t0001g0169 | 1 | 306 | 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 | 378 | 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 | a0001c0014a0001c0017a0001c0038others(2): Show | a0001c0014t0001a0001c0017t0005a0001c0038t0001others(2): Show | a0001c0014t0001g0013 a0001c0017t0005g0026 a0001c0017t0005g0151 others(3): Show |
13 | 328 | 0.0396 | -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 | a0007 | a0007c0048 | a0007c0048t0004 | a0007c0048t0004g0148 | 1 | 416 | 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 |
a0001a0013 | a0001c0002a0001c0004a0001c0039others(5): Show | a0001c0002t0002a0001c0002t0012a0001c0004t0003others(6): Show | a0001c0002t0002g0002 a0001c0002t0002g0031 a0001c0002t0002g0034 others(10): Show |
70 | 414 | 0.1691 | -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 |