| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TMEM132D_chr12_129066726_129909025 | 129088815 | GGGTGTCC others(673): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0061 | 1 | 94 | 0.0106 | -680 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| DENND1A_chr9_123374658_123935126 | 123854725 | ATGAAATA others(672): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02723.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0012a0005c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0137a0001c0001t0002g0078others(3): Show | 6 | 162 | 0.0370 | -679 | c.88+ others(17): Show |
DENND1A | ENSG00000119522.18 | transcript | ENST00000394215.7 | protein_coding | 2/23 | chr9 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046891 | CTGTCTAC others(672): Show |
C | intron_variant | MODIFIER | HG02572.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0005g0107 | 2 | 438 | 0.0046 | -679 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158667304 | CCCTTAGC others(672): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 378 | 0.0027 | -679 | c.148 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158667320 | TGTCCCTC others(672): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 378 | 0.0027 | -679 | c.148 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
| ROR2_chr9_91717601_91955228 | 91797053 | TGGCTCTG others(672): Show |
T | intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0085 | 1 | 226 | 0.0044 | -679 | c.98- others(17): Show |
ROR2 | ENSG00000169071.15 | transcript | ENST00000375708.4 | protein_coding | 1/8 | chr9 | TogoVar | ||||||
| TMEM40_chr3_12728528_12764259 | 12729690 | CCTATAAT others(672): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG02647.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258a0001c0001t0001g0260a0001c0001t0001g0261others(4): Show | 7 | 344 | 0.0204 | -679 | c.*44 others(11): Show |
TMEM40 | ENSG00000088726.16 | transcript | ENST00000314124.12 | protein_coding | 3837 | chr3 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827437 | CTGAGTGG others(672): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 |
a0002a0003 | a0002c0001a0003c0020 | a0002c0001t0001a0003c0020t0006 | a0002c0001t0001g0065a0003c0020t0006g0047 | 2 | 200 | 0.0100 | -679 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827629 | CTGAGTGG others(672): Show |
C | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0091 | 1 | 200 | 0.0050 | -679 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393789 | GGGGAAGG others(672): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0012 | a0001c0012t0204 | a0001c0012t0204g0114 | 1 | 346 | 0.0029 | -679 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15931087 | AAGGGAGT others(671): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0003 | a0003c0003t0152 | a0003c0003t0152g0073 | 1 | 386 | 0.0026 | -678 | c.199 others(17): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321775 | GCGGGGCT others(671): Show |
G | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0042 | 1 | 88 | 0.0114 | -678 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| RNASE10_chr14_20500537_20518884 | 20506313 | GGGGGGGT others(671): Show |
G | intron_variant | MODIFIER | NA18959.hp2 NA19000.hp1 NA19010.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 6 | 396 | 0.0152 | -678 | c.-6+ others(13): Show |
RNASE10 | ENSG00000182545.7 | transcript | ENST00000430083.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TPO_chr2_1408463_1548673 | 1532028 | CCCCTCAC others(671): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
a0000a0001a0002others(15): Show | a0000c0019a0001c0001a0001c0004others(24): Show | a0000c0019t0004a0001c0001t0001a0001c0001t0002others(43): Show | a0000c0019t0004g0007a0001c0001t0001g0022a0001c0001t0001g0030others(84): Show | 89 | 130 | 0.6846 | -678 | c.261 others(19): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191194 | CTTACTCA others(670): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0135 | a0002c0135t0043 | a0002c0135t0043g0282 | 1 | 338 | 0.0030 | -677 | c.300 others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| DNAJC13_chr3_132412502_132544032 | 132470714 | GGCTCCTC others(670): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 318 | 0.0031 | -677 | c.220 others(19): Show |
DNAJC13 | ENSG00000138246.17 | transcript | ENST00000260818.11 | protein_coding | 20/55 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GNA12_chr7_2723105_2849308 | 2848631 | GAGACCAG others(670): Show |
G | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0297 | 1 | 322 | 0.0031 | -677 | c.-51 others(11): Show |
GNA12 | ENSG00000146535.14 | transcript | ENST00000275364.8 | protein_coding | 4324 | chr7 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510655 | AACATACA others(670): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG01517.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0072 | a0001c0001t0005g0035a0001c0001t0005g0113a0001c0001t0005g0150others(2): Show | 5 | 244 | 0.0205 | -677 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | ||||||
| SUPT6H_chr17_28657205_28707679 | 28692261 | CTGCAGTG others(670): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp2 others(46): Show |
a0001a0002a0003 | a0001c0003a0001c0006a0001c0007others(4): Show | a0001c0003t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0003t0001g0016a0001c0003t0001g0017a0001c0003t0001g0018others(43): Show | 49 | 236 | 0.2076 | -677 | c.363 others(18): Show |
SUPT6H | ENSG00000109111.15 | transcript | ENST00000314616.11 | protein_coding | 27/36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| WWOX_chr16_78094654_79217667 | 78137768 | AGGTAGTG others(670): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02559.hp1 HG02723.hp1 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0054a0001c0001t0004g0004a0001c0001t0010g0031others(5): Show | 8 | 142 | 0.0563 | -677 | c.409 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 4/8 | chr16 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565396 | TCTGTCTG others(669): Show |
T | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 340 | 0.0029 | -676 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137566996 | TGTGAGGA others(669): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 340 | 0.0029 | -676 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| FAM221A_chr7_23675199_23707650 | 23678595 | GGAAGAGT others(669): Show |
G | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02055.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0065a0003c0003t0002g0062a0003c0003t0002g0063others(2): Show | 5 | 410 | 0.0122 | -676 | c.-16 others(10): Show |
FAM221A | ENSG00000188732.11 | transcript | ENST00000344962.9 | protein_coding | 1603 | chr7 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960852 | GACACAGA others(669): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01993.hp2 others(6): Show |
a0001a0003a0012 | a0001c0002a0003c0014a0003c0015others(1): Show | a0001c0002t0001a0003c0014t0001a0003c0015t0001others(1): Show | a0001c0002t0001g0095a0003c0014t0001g0009a0003c0014t0001g0010others(6): Show | 9 | 294 | 0.0306 | -676 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| LMLN_chr3_197955217_198048720 | 198004094 | CATCTATC others(669): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0185 | 1 | 258 | 0.0039 | -676 | c.131 others(18): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LUC7L_chr16_183990_234449 | 186492 | GGGGAACA others(669): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 350 | 0.0029 | -676 | c.*20 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2497 | chr16 | TogoVar | ||||||
| MARCHF11_chr5_16062139_16184791 | 16124699 | AAAAGATG others(669): Show |
A | intron_variant | MODIFIER | HG00323.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054a0001c0001t0001g0072 | 2 | 298 | 0.0067 | -676 | c.694 others(19): Show |
MARCHF11 | ENSG00000183654.9 | transcript | ENST00000332432.9 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
| SLC37A3_chr7_140328752_140403530 | 140371239 | AATCTTGG others(669): Show |
A | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 346 | 0.0029 | -676 | c.199 others(17): Show |
SLC37A3 | ENSG00000157800.18 | transcript | ENST00000326232.14 | protein_coding | 3/14 | chr7 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(669): Show |
G | intron_variant | MODIFIER | HG01361.hp1 HG02135.hp2 NA19000.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0007 | a0001c0001t0001g0117a0001c0002t0002g0007a0001c0002t0002g0012others(1): Show | 4 | 180 | 0.0222 | -676 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560624 | ATTCTTGG others(669): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0053 | 1 | 180 | 0.0056 | -676 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560650 | ACCCTGAG others(669): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0049 | 1 | 180 | 0.0056 | -676 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560936 | ATTCTTGG others(669): Show |
A | intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 180 | 0.0056 | -676 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168561565 | TGGAGGAG others(669): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 180 | 0.0056 | -676 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1106846 | GAGTGGTC others(669): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02300.hp1 HG03710.hp2 others(1): Show |
a0001a0004a0008 | a0001c0002a0004c0014a0008c0011 | a0001c0002t0001a0004c0014t0001a0008c0011t0001 | a0001c0002t0001g0023a0001c0002t0001g0027a0004c0014t0001g0036others(1): Show | 4 | 190 | 0.0211 | -676 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM43_chr3_14120052_14148680 | 14136680 | AGCCCAGA others(669): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00639.hp1 others(60): Show |
a0001a0003a0015 | a0001c0001a0003c0003a0015c0021 | a0001c0001t0007a0001c0001t0027a0003c0003t0001others(2): Show | a0001c0001t0007g0023a0001c0001t0007g0057a0001c0001t0007g0058others(19): Show | 63 | 406 | 0.1552 | -676 | c.882 others(16): Show |
TMEM43 | ENSG00000170876.8 | transcript | ENST00000306077.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| USP14_chr18_153557_219629 | 207030 | GTGAATAT others(669): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01069.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0007a0001c0002t0018others(7): Show | a0001c0001t0007g0242a0001c0001t0007g0248a0001c0002t0007g0020others(19): Show | 24 | 380 | 0.0632 | -676 | c.116 others(19): Show |
USP14 | ENSG00000101557.15 | transcript | ENST00000261601.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| B3GNTL1_chr17_82937149_83056770 | 82976167 | GACTCCAT others(668): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0057 | 1 | 266 | 0.0038 | -675 | c.460 others(19): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| CDA_chr1_20584097_20623903 | 20605522 | TGGTGGCG others(668): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(119): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0007others(99): Show | 122 | 418 | 0.2919 | -675 | c.266 others(16): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240978221 | TCTCTGGG others(668): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01081.hp2 HG01175.hp2 others(20): Show |
a0001a0005a0007others(4): Show | a0001c0001a0001c0022a0005c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0022t0002others(7): Show | a0001c0001t0001g0058a0001c0001t0001g0082a0001c0001t0001g0084others(20): Show | 23 | 350 | 0.0657 | -675 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GALNT9_chr12_132191372_132334589 | 132223361 | ACNNNNNN others(668): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01243.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0002t0001g0068others(5): Show | 8 | 183 | 0.0437 | -675 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| IDI1_chr10_1034419_1054119 | 1046924 | TCTACACC others(668): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01069.hp2 others(33): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0024others(5): Show | 36 | 438 | 0.0822 | -675 | c.140 others(17): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1288663 | TCCCGTGT others(667): Show |
T | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | -674 | c.*42 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3727 | chr1 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1701057 | TCAATCCC others(667): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(44): Show | a0001c0001t0001g0069a0001c0001t0003g0085a0001c0001t0003g0097others(57): Show | 60 | 106 | 0.5660 | -674 | c.100 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| LAPTM4B_chr8_97770788_97858013 | 97841692 | GTGAGTTA others(667): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0302 | 1 | 380 | 0.0026 | -674 | c.604 others(17): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 857806 | TCTCGGGA others(667): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02486.hp1 others(2): Show |
a0001a0018 | a0001c0006a0018c0058 | a0001c0006t0001a0018c0058t0001 | a0001c0006t0001g0082a0001c0006t0001g0285a0001c0006t0001g0286others(2): Show | 5 | 294 | 0.0170 | -674 | c.153 others(19): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| LPP_chr3_188149157_188895671 | 188784394 | CATATATA others(667): Show |
C | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0072 | 1 | 76 | 0.0132 | -674 | c.141 others(21): Show |
LPP | ENSG00000145012.15 | transcript | ENST00000617246.5 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SCNN1D_chr1_1275436_1297025 | 1288663 | TCCCGTGT others(667): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02074.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057a0002c0002t0001g0062 | 2 | 290 | 0.0069 | -674 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393416 | GGGGAAGG others(667): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0009 | a0002c0009t0175 | a0002c0009t0175g0013 | 1 | 346 | 0.0029 | -674 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393633 | AGGCAGGT others(667): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 346 | 0.0029 | -674 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CDKAL1_chr6_20529457_21237404 | 21163885 | AGGCTGCA others(666): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03041.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0071a0001c0004t0001g0099 | 2 | 196 | 0.0102 | -673 | c.130 others(21): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |