| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(503): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0047 a0001c0001t0001g0126 |
4 | 216 | 0.0185 | 510 | c.894 others(525): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
| CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(503): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 213 | 0.0047 | 510 | c.894 others(525): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
| CIP2A_chr3_108544864_108594438 | 108575529 | C | CGTATATA others(503): Show |
intron_variant | MODIFIER | HG00280.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0013t0002 | a0001c0001t0002g0156 a0001c0013t0002g0155 |
2 | 214 | 0.0093 | 510 | c.894 others(525): Show |
CIP2A | ENSG00000163507.15 | transcript | ENST00000295746.13 | protein_coding | 8/20 | chr3 | TogoVar | |||||||
| CKM_chr19_45301413_45327875 | 45325126 | A | AAGGAGGC others(503): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 NA18974.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0151 a0001c0001t0001g0244 a0001c0001t0001g0245 others(1): Show |
4 | 384 | 0.0104 | 510 | c.-23 others(521): Show |
CKM | ENSG00000104879.5 | transcript | ENST00000221476.4 | protein_coding | 2252 | chr19 | TogoVar | |||||||
| COL19A1_chr6_69861556_70217468 | 69920971 | T | TATATATA others(503): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0129 | 1 | 129 | 0.0078 | 510 | c.267 others(527): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| COL19A1_chr6_69861556_70217468 | 69920974 | G | GTATATTC others(503): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19043.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0003a0001c0008t0004 | a0001c0005t0003g0003 a0001c0008t0004g0004 |
2 | 5 | 0.4000 | 510 | c.267 others(527): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(503): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0265 | 1 | 177 | 0.0056 | 510 | c.925 others(525): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134729517 | T | TGTGTGTG others(503): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0051 | a0001c0051t0007 | a0001c0051t0007g0203 | 1 | 177 | 0.0056 | 510 | c.925 others(525): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958114 | C | CCACCACC others(503): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0035 | 1 | 228 | 0.0044 | 510 | c.724 others(529): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DIDO1_chr20_62872743_62931505 | 62875266 | C | CCACCCCC others(503): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 | a0014 | a0014c0044 | a0014c0044t0001 | a0014c0044t0001g0122 | 1 | 271 | 0.0037 | 510 | c.*39 others(521): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2476 | chr20 | TogoVar | |||||||
| DOCK1_chr10_126900428_127457516 | 126947606 | T | TTGGTGGT others(503): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0053 | a0002c0053t0002 | a0002c0053t0002g0118 | 1 | 38 | 0.0263 | 510 | c.47- others(527): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| EML1_chr14_99788413_99947060 | 99927939 | A | ATGGTGGT others(503): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0002 | a0003c0002t0006 | a0003c0002t0006g0109 | 1 | 237 | 0.0042 | 510 | c.190 others(529): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(503): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01943.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0027 others(2): Show |
5 | 14 | 0.3571 | 510 | c.161 others(525): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| FAM240C_chr2_241888988_241905464 | 241896810 | T | TGTTGGGG others(503): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 10 | 0.1000 | 510 | c.161 others(525): Show |
FAM240C | ENSG00000216921.9 | transcript | ENST00000404031.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
| GALR1_chr18_77244848_77282900 | 77252935 | C | CCATCACC others(503): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0283 | 1 | 329 | 0.0030 | 510 | c.666 others(527): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| GNA15_chr19_3131033_3168749 | 3145577 | T | TCTCACTC others(503): Show |
intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 88 | 0.0114 | 510 | c.146 others(527): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GTPBP4_chr10_983434_1024932 | 1010845 | A | ACTCTGGT others(503): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0030 | 1 | 65 | 0.0154 | 510 | c.134 others(527): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| GUCY1A2_chr11_106669019_107023476 | 106710137 | T | TTATATAC others(503): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0111 | 1 | 236 | 0.0042 | 510 | c.183 others(529): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | |||||||
| HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(503): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0012 | a0012c0021 | a0012c0021t0004 | a0012c0021t0004g0074 | 1 | 19 | 0.0526 | 510 | c.520 others(531): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399534 | A | ACCACCAT others(503): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 308 | 0.0032 | 510 | c.-25 others(527): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ICA1_chr7_8108184_8267167 | 8152587 | C | CCACCACT others(503): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0014 | a0001c0001t0002g0147 a0001c0001t0012g0003 a0001c0001t0014g0002 |
3 | 227 | 0.0132 | 510 | c.804 others(527): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| ICA1_chr7_8108184_8267167 | 8152787 | A | ACCTCCTC others(503): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 253 | 0.0040 | 510 | c.804 others(527): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
| INS_chr11_2154779_2166209 | 2161890 | C | CACCCCTG others(503): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 359 | 0.0028 | 510 | c.-74 others(519): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 682 | chr11 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(503): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0008 | a0004c0008t0047 | a0004c0008t0047g0249 | 1 | 100 | 0.0100 | 510 | c.623 others(527): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134138274 | G | GAGAGAAA others(503): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 351 | 0.0028 | 510 | c.77- others(525): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(503): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 5 | 0.2000 | 510 | c.-41 others(525): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21346215 | T | TTATATAT others(503): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 4 | 0.2500 | 510 | c.62- others(529): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
| KIF3B_chr20_32272651_32340011 | 32322802 | T | TTATATAT others(503): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0012 | 1 | 231 | 0.0043 | 510 | c.174 others(529): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| LCN15_chr9_136754634_136769518 | 136769477 | A | ACCCCTCC others(503): Show |
upstream_gene_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 339 | 0.0029 | 510 | c.-49 others(521): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4960 | chr9 | TogoVar | |||||||
| LHPP_chr10_124456823_124619141 | 124471525 | T | TTTTTATA others(503): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 237 | 0.0042 | 510 | c.125 others(527): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124610989 | C | CGGGTGCG others(503): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 37 | 0.0270 | 510 | c.717 others(527): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 859688 | C | CGGGTGTG others(503): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01243.hp1 |
a0007 | a0007c0028 | a0007c0028t0004 | a0007c0028t0004g0017 a0007c0028t0004g0265 |
2 | 149 | 0.0134 | 510 | c.153 others(529): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
| LRGUK_chr7_134122340_134269595 | 134190878 | A | AAAGCAGT others(503): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0127 | 1 | 113 | 0.0088 | 510 | c.133 others(527): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAAAAA others(503): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0179 | 1 | 61 | 0.0164 | 510 | c.363 others(527): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP5_chr11_68307591_68454275 | 68428943 | A | AAAAGCCA others(503): Show |
intron_variant | MODIFIER | HG01257.hp1 NA18941.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0184 a0001c0002t0001g0190 |
2 | 62 | 0.0323 | 510 | c.363 others(527): Show |
LRP5 | ENSG00000162337.12 | transcript | ENST00000294304.12 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(503): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01361.hp1 NA20752.hp2 |
a0002a0004 | a0002c0002a0004c0008 | a0002c0002t0001a0002c0002t0010a0004c0008t0006 | a0002c0002t0001g0057 a0002c0002t0010g0051 a0004c0008t0006g0236 |
3 | 8 | 0.3750 | 510 | c.368 others(527): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
| LRRC14_chr8_144512992_144530172 | 144513834 | A | GAGGGGTC others(503): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 3 | 0.3333 | 510 | c.-43 others(520): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4158 | chr8 | TogoVar | |||||||
| LRRC14_chr8_144512992_144530172 | 144513834 | A | GAGGGGTC others(503): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 1 | 3 | 0.3333 | 510 | c.-43 others(520): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4158 | chr8 | TogoVar | |||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(503): Show |
upstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 234 | 0.0043 | 510 | c.-42 others(521): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
| LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(503): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 234 | 0.0043 | 510 | c.-42 others(521): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
| LRRC24_chr8_144517388_144532033 | 144531242 | C | CAGGGCAG others(503): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0036 | 1 | 369 | 0.0027 | 510 | c.-43 others(521): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4210 | chr8 | TogoVar | |||||||
| LUC7L_chr16_183990_234449 | 186476 | G | GGAGGAAC others(503): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 309 | 0.0032 | 510 | c.*27 others(521): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2513 | chr16 | TogoVar | |||||||
| MAN2B2_chr4_6570189_6628362 | 6579325 | C | CCACCACC others(503): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 255 | 0.0039 | 510 | c.391 others(525): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(503): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 155 | 0.0065 | 510 | c.343 others(527): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396705 | T | TATATATA others(503): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 155 | 0.0065 | 510 | c.343 others(527): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MBNL3_chrX_132364320_132494038 | 132396745 | T | TATTCATA others(503): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0143 | 1 | 109 | 0.0092 | 510 | c.343 others(527): Show |
MBNL3 | ENSG00000076770.16 | transcript | ENST00000370853.8 | protein_coding | 3/8 | chrX | TogoVar | |||||||
| MCF2L2_chr3_183173041_183433619 | 183314931 | T | TTTTGAGA others(503): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0024 | a0024c0030 | a0024c0030t0004 | a0024c0030t0004g0165 | 1 | 122 | 0.0082 | 510 | c.753 others(527): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
| MCF2L2_chr3_183173041_183433619 | 183314931 | T | TTTTGAGA others(503): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 122 | 0.0082 | 510 | c.753 others(527): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
| MCF2L2_chr3_183173041_183433619 | 183314931 | T | TTTTGAGA others(503): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG00741.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(15): Show | a0001c0001t0001g0010 a0001c0001t0001g0055 a0001c0001t0001g0067 others(24): Show |
27 | 148 | 0.1824 | 510 | c.753 others(527): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
| MEX3D_chr19_1549672_1573325 | 1549710 | G | GCCTCGCT others(503): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0013 | 1 | 369 | 0.0027 | 510 | c.*58 others(521): Show |
MEX3D | ENSG00000181588.17 | transcript | ENST00000402693.5 | protein_coding | 4961 | chr19 | TogoVar |