| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGAP15_chr2_143124419_143773352 | 143210262 | GAAATTTC others(693): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113a0001c0001t0001g0114 | 2 | 162 | 0.0124 | -700 | c.235 others(17): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034286 | CGGTGTCT others(693): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 390 | 0.0026 | -700 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240907691 | GTGGGGTG others(693): Show |
G | intron_variant | MODIFIER | NA18960.hp2 NA19079.hp1 |
a0005a0035 | a0005c0005a0035c0084 | a0005c0005t0001a0035c0084t0001 | a0005c0005t0001g0075a0035c0084t0001g0074 | 2 | 350 | 0.0057 | -700 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240907975 | CCTCTACC others(693): Show |
C | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 350 | 0.0029 | -700 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240908450 | CCTCTACC others(693): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG01978.hp2 HG02300.hp2 others(7): Show |
a0001a0006a0009others(1): Show | a0001c0001a0006c0007a0009c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0006c0007t0001others(3): Show | a0001c0001t0001g0191a0001c0001t0003g0196a0006c0007t0001g0194others(7): Show | 10 | 350 | 0.0286 | -700 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTDP1_chr18_79674803_79759503 | 79745234 | TGCGTCCC others(693): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01433.hp2 HG01515.hp2 others(19): Show |
a0001a0009a0013 | a0001c0003a0001c0008a0001c0016others(2): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0014others(4): Show | a0001c0003t0001g0026a0001c0003t0001g0027a0001c0003t0001g0031others(19): Show | 22 | 378 | 0.0582 | -700 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15933223 | AGGAGAGG others(693): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02970.hp1 |
a0003 | a0003c0003a0003c0016 | a0003c0003t0152a0003c0016t0025 | a0003c0003t0152g0073a0003c0016t0025g0074 | 2 | 386 | 0.0052 | -700 | c.198 others(15): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241766356 | GTGGGGAG others(693): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0077 | 1 | 412 | 0.0024 | -700 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89360739 | GCACCACC others(693): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0219 | 1 | 230 | 0.0044 | -700 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834374 | AGCTGGGA others(693): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0258 | 2 | 394 | 0.0051 | -700 | c.128 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| HSD17B14_chr19_48808018_48841491 | 48834528 | GGCCTGGA others(693): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 394 | 0.0025 | -700 | c.127 others(15): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834374 | AGCTGGGA others(693): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007 | 2 | 300 | 0.0067 | -700 | c.*22 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2722 | chr19 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834528 | GGCCTGGA others(693): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 300 | 0.0033 | -700 | c.*20 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2568 | chr19 | TogoVar | ||||||
| PLEKHG4B_chr5_87168_194966 | 165803 | CTCTGATG others(693): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0007 | a0001c0007t0008 | a0001c0007t0008g0150 | 1 | 210 | 0.0048 | -700 | c.347 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RAD51B_chr14_67814779_68483093 | 68136314 | ACCTGTAA others(693): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp2 HG01175.hp2 others(30): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0016others(30): Show | 33 | 84 | 0.3929 | -700 | c.757 others(21): Show |
RAD51B | ENSG00000182185.19 | transcript | ENST00000471583.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 933980 | AGGGGAGG others(693): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 434 | 0.0023 | -700 | c.843 others(17): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934036 | AGGGGAGG others(693): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG02135.hp1 HG02698.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0001a0001c0004t0001a0003c0006t0002 | a0001c0001t0001g0068a0001c0001t0001g0084a0001c0001t0001g0085others(5): Show | 8 | 434 | 0.0184 | -700 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934133 | GCGTTACA others(693): Show |
G | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161 | 1 | 434 | 0.0023 | -700 | c.843 others(16): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291347 | ATGTCCCT others(693): Show |
A | intron_variant | MODIFIER | HG02135.hp1 | a0009 | a0009c0024 | a0009c0024t0001 | a0009c0024t0001g0163 | 1 | 284 | 0.0035 | -700 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238657 | TCCCCTCT others(692): Show |
T | intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0081 | 1 | 106 | 0.0094 | -699 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADGRA1_chr10_133082924_133136675 | 133135959 | TCTGGTCT others(692): Show |
T | downstream_gene_variant | MODIFIER | HG01169.hp1 HG01258.hp1 HG02083.hp1 others(8): Show |
a0001 | a0001c0003a0001c0004a0001c0017others(2): Show | a0001c0003t0004a0001c0003t0009a0001c0003t0015others(6): Show | a0001c0003t0004g0008a0001c0003t0004g0220a0001c0003t0004g0228others(8): Show | 11 | 368 | 0.0299 | -699 | c.*64 others(11): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4285 | chr10 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1374473 | CTAAGACA others(692): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 115 | 0.0087 | -699 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1022724 | TTTGTCCC others(692): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 | 1 | 319 | 0.0031 | -699 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149661 | ACTCCTAC others(692): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091 | 1 | 294 | 0.0034 | -699 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149666 | TACCACAC others(692): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 294 | 0.0034 | -699 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149881 | ACTCCTAC others(692): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 294 | 0.0034 | -699 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| OTUD7A_chr15_31470398_31875673 | 31510838 | TATGTATA others(692): Show |
T | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 244 | 0.0041 | -699 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| ATAD3B_chr1_1466765_1502848 | 1473694 | CCACCTTG others(691): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 276 | 0.0036 | -698 | c.205 others(17): Show |
ATAD3B | ENSG00000160072.20 | transcript | ENST00000673477.1 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
| ATAD3C_chr1_1444689_1475163 | 1473694 | CCACCTTG others(691): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0006 | a0002c0006t0094 | a0002c0006t0094g0051 | 1 | 410 | 0.0024 | -698 | c.*51 others(11): Show |
ATAD3C | ENSG00000215915.10 | transcript | ENST00000378785.7 | protein_coding | 3532 | chr1 | TogoVar | ||||||
| CH25H_chr10_89200629_89212317 | 89203984 | TCCTGCTC others(691): Show |
T | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 384 | 0.0052 | -698 | c.*17 others(11): Show |
CH25H | ENSG00000138135.7 | transcript | ENST00000371852.4 | protein_coding | 1644 | chr10 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6415781 | GTTGCAGT others(691): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 380 | 0.0026 | -698 | c.142 others(17): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55040878 | ACACTCTG others(691): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 441 | 0.0023 | -698 | c.-33 others(11): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 2615 | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953276 | CGTCCACA others(691): Show |
C | intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0061 | a0008c0061t0003 | a0008c0061t0003g0210 | 1 | 294 | 0.0034 | -698 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953340 | TTCCTACA others(691): Show |
T | intron_variant | MODIFIER | HG02738.hp2 HG03688.hp1 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104a0001c0001t0001g0105a0001c0001t0001g0106 | 3 | 294 | 0.0102 | -698 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149329 | CCCCTCGG others(691): Show |
C | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 294 | 0.0034 | -698 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NRIP1_chr21_14956235_15070000 | 15030875 | GTACACTC others(691): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0031 | a0001c0002t0031g0274 | 1 | 398 | 0.0025 | -698 | c.-45 others(21): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 53832019 | CTAAGATT others(691): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0034 | 1 | 102 | 0.0098 | -698 | c.398 others(18): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 29/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 53832019 | CTAAGATT others(691): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0031 | 1 | 94 | 0.0106 | -698 | c.398 others(18): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 29/32 | chr10 | TogoVar | ||||||
| RDH13_chr19_55039316_55068148 | 55040878 | ACACTCTG others(691): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 | 1 | 377 | 0.0027 | -698 | c.*34 others(11): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 3437 | chr19 | TogoVar | ||||||
| TUBGCP2_chr10_133273635_133313872 | 133291236 | GCCCTCCG others(691): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG03516.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0049a0001c0001t0001g0099a0001c0001t0001g0231others(2): Show | 5 | 284 | 0.0176 | -698 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99680443 | TCTGTAAA others(690): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 66 | 0.0152 | -697 | c.55+ others(19): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | chr11 | TogoVar | ||||||
| ECSCR_chr5_139443560_139467743 | 139452659 | GNNNNNNN others(690): Show |
G | intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 369 | 0.0027 | -697 | c.512 others(17): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 8/9 | chr5 | TogoVar | ||||||
| EXOC2_chr6_480154_698139 | 675519 | AGAAAGGA others(690): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0208 | 1 | 272 | 0.0037 | -697 | c.-44 others(19): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(690): Show |
A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0214others(4): Show | 7 | 350 | 0.0200 | -697 | c.*24 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186553 | GACACGGG others(690): Show |
G | downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 350 | 0.0029 | -697 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2436 | chr16 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 332814 | ATTTTTTT others(690): Show |
A | intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 384 | 0.0026 | -697 | c.243 others(16): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 332824 | ATTTTTTT others(690): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01081.hp2 HG01106.hp1 others(44): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(6): Show | a0001c0001t0001g0302a0001c0002t0001g0220a0001c0002t0002g0089others(43): Show | 47 | 384 | 0.1224 | -697 | c.243 others(16): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 3/13 | chr19 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237544468 | TGGGGACA others(690): Show |
T | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 286 | 0.0035 | -697 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NUCB2_chr11_17271739_17337211 | 17284872 | CTTCCTCA others(690): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0102 | 1 | 360 | 0.0028 | -697 | c.-1+ others(15): Show |
NUCB2 | ENSG00000070081.18 | transcript | ENST00000529010.6 | protein_coding | 2/13 | chr11 | TogoVar | ||||||
| ZC3H3_chr8_143432659_143546447 | 143459377 | CGTCTCTA others(690): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0006 | a0006c0044 | a0006c0044t0001 | a0006c0044t0001g0134 | 1 | 352 | 0.0028 | -697 | c.230 others(19): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 9/11 | chr8 | TogoVar |