| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCNN1D_chr1_1275436_1297025 | 1288263 | CTCTGCTC others(1702): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 290 | 0.0035 | -1709 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129855634 | GAACGGGA others(1702): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0041 | 1 | 94 | 0.0106 | -1709 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744756 | CCCGGGGG others(1701): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0074 | 1 | 366 | 0.0027 | -1708 | 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(1701): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0111 | 1 | 366 | 0.0027 | -1708 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744813 | CCCGGGGG others(1700): Show |
C | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 366 | 0.0027 | -1707 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| C3orf84_chr3_49172634_49196858 | 49188964 | ATTTTTTT others(1699): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG03942.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0127 | 1 | 306 | 0.0033 | -1706 | c.28- others(15): Show |
C3orf84 | ENSG00000236980.10 | transcript | ENST00000545770.7 | protein_coding | 2/4 | chr3 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744814 | CCGGGGGT others(1699): Show |
C | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0274 | 1 | 366 | 0.0027 | -1706 | 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 | 744870 | CCCCGGGG others(1699): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0133 | 1 | 366 | 0.0027 | -1706 | 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 | 744927 | CCCGGGGG others(1699): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0311 | 1 | 366 | 0.0027 | -1706 | 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 | 744984 | CCCGGGGG others(1699): Show |
C | intron_variant | MODIFIER | HG00099.hp1 NA18612.hp2 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0282a0001c0001t0008g0252a0001c0001t0008g0270others(1): Show | 4 | 366 | 0.0109 | -1706 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PRKN_chr6_161342417_162732766 | 161982214 | GTAAAATA others(1699): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0003t0001 | a0001c0001t0014g0012a0001c0003t0001g0025a0001c0003t0001g0032 | 3 | 32 | 0.0938 | -1706 | c.619 others(18): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
| SLC24A2_chr9_19502455_19794037 | 19671770 | GCTGGATT others(1699): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01258.hp2 HG01884.hp1 others(24): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(23): Show | a0001c0001t0002g0008a0001c0001t0004g0046a0001c0001t0019g0057others(24): Show | 27 | 188 | 0.1436 | -1706 | c.931 others(19): Show |
SLC24A2 | ENSG00000155886.12 | transcript | ENST00000341998.7 | protein_coding | 2/10 | chr9 | TogoVar | ||||||
| ADGRA3_chr4_22382376_22521066 | 22494061 | TGGGCGTG others(1697): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0240a0001c0002t0001g0242a0001c0002t0001g0243 | 3 | 290 | 0.0103 | -1704 | c.257 others(19): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 1/18 | chr4 | TogoVar | ||||||
| BCAS3_chr17_60672851_61397831 | 60692566 | GCATGTTG others(1697): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01952.hp2 HG02615.hp1 others(3): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0009 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0056a0001c0002t0002g0053a0001c0002t0002g0054others(3): Show | 6 | 74 | 0.0811 | -1704 | c.214 others(17): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 4/23 | chr17 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430539 | CGGTCTGG others(1697): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 NA20752.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0048others(1): Show | a0001c0001t0001g0191a0001c0001t0004g0190a0001c0001t0048g0342others(1): Show | 4 | 360 | 0.0111 | -1704 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CARD6_chr5_40836367_40860354 | 40848653 | AGAGACTC others(1697): Show |
A | intron_variant | MODIFIER | HG02040.hp1 NA18952.hp2 NA19000.hp1 others(5): Show |
a0001a0019 | a0001c0001a0019c0021 | a0001c0001t0002a0019c0021t0002 | a0001c0001t0002g0032a0001c0001t0002g0036a0001c0001t0002g0188others(1): Show | 8 | 440 | 0.0182 | -1704 | c.842 others(17): Show |
CARD6 | ENSG00000132357.14 | transcript | ENST00000254691.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| HSF1_chr8_144286604_144319720 | 144301894 | GTGCACGG others(1697): Show |
G | intron_variant | MODIFIER | HG02165.hp2 HG02698.hp1 HG03688.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158a0001c0001t0001g0234a0001c0001t0001g0235others(4): Show | 7 | 330 | 0.0212 | -1704 | c.118 others(17): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 1/12 | chr8 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974577 | GGCCCAGG others(1697): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp2 |
a0002 | a0002c0007a0002c0008 | a0002c0007t0004a0002c0008t0001 | a0002c0007t0004g0134a0002c0008t0001g0135 | 2 | 150 | 0.0133 | -1704 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| METTL15_chr11_28103388_28338507 | 28233099 | ATTTCATG others(1694): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0230 | 1 | 332 | 0.0030 | -1701 | c.407 others(19): Show |
METTL15 | ENSG00000169519.21 | transcript | ENST00000407364.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1693): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01433.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0020others(3): Show | a0001c0001t0004g0092a0001c0001t0018g0253a0001c0001t0020g0084others(4): Show | 8 | 412 | 0.0194 | -1700 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765486 | TTAGGAAG others(1693): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0008 | a0008c0024 | a0008c0024t0001 | a0008c0024t0001g0034 | 1 | 412 | 0.0024 | -1700 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1343954 | CCCCTGTT others(1693): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01516.hp1 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0001 | a0001c0001t0001g0140a0010c0012t0001g0166 | 2 | 190 | 0.0105 | -1700 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| STARD9_chr15_42570606_42725998 | 42648409 | GGCCTCGG others(1693): Show |
G | intron_variant | MODIFIER | NA19063.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0198 | 1 | 210 | 0.0048 | -1700 | c.560 others(16): Show |
STARD9 | ENSG00000159433.12 | transcript | ENST00000290607.12 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| TLN2_chr15_62385550_62849631 | 62413893 | TATTTTAT others(1693): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00621.hp2 others(33): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0002t0009a0001c0003t0001others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0109a0001c0001t0001g0134others(33): Show | 36 | 144 | 0.2500 | -1700 | c.-23 others(21): Show |
TLN2 | ENSG00000171914.17 | transcript | ENST00000636159.2 | protein_coding | 1/58 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| HTN1_chr4_70045438_70063848 | 70049113 | AACATGCA others(1690): Show |
A | splice_donor_variant others(4): Show |
HIGH | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 440 | 0.0023 | -1697 | c.-13 others(13): Show |
HTN1 | ENSG00000126550.10 | transcript | ENST00000246896.8 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| AK5_chr1_77277019_77564966 | 77314209 | TGCTCCAA others(1688): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0280a0001c0001t0007g0281 | 2 | 284 | 0.0070 | -1695 | c.699 others(19): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | chr1 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1236331 | GCCTCCCG others(1687): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0042 | 1 | 106 | 0.0094 | -1694 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1404191 | ATCCTCCT others(1687): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -1694 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| TMLHE_chrX_155484011_155617952 | 155547188 | AGGCTGGA others(1687): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 216 | 0.0046 | -1694 | c.-1- others(15): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805330 | TCCCCCCT others(1686): Show |
T | downstream_gene_variant | MODIFIER | HG02809.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0072 | 1 | 314 | 0.0032 | -1693 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1044 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805330 | TCCCCCCT others(1686): Show |
T | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0103 | 1 | 319 | 0.0031 | -1693 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3862 | chr2 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393074 | CAGGTGGT others(1686): Show |
C | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0011 | a0001c0011t0067 | a0001c0011t0067g0003 | 1 | 346 | 0.0029 | -1693 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1397653 | TGTCCTCC others(1685): Show |
T | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 | 1 | 40 | 0.0250 | -1692 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RELN_chr7_103466789_103994658 | 103824628 | GTGTGTGT others(1685): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0101 | 1 | 184 | 0.0054 | -1692 | c.473 others(17): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1070113 | GGGCATCA others(1685): Show |
G | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 118 | 0.0085 | -1692 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| DNMBP_chr10_99870577_100014947 | 99947861 | TTTTCTGA others(1684): Show |
T | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0073 | 1 | 274 | 0.0037 | -1691 | c.226 others(19): Show |
DNMBP | ENSG00000107554.17 | transcript | ENST00000324109.9 | protein_coding | 4/16 | chr10 | TogoVar | ||||||
| VAT1L_chr16_77783564_77985107 | 77931611 | AAAAAGTG others(1684): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0146 | 1 | 342 | 0.0029 | -1691 | c.107 others(21): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GSK3B_chr3_119816321_120099447 | 119936323 | AAATATAT others(1683): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0087a0001c0001t0001g0088others(1): Show | 4 | 300 | 0.0133 | -1690 | c.366 others(18): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 3/10 | chr3 | TogoVar | ||||||
| NBPF9_chr1_149047186_149108551 | 149081362 | CCCGCCTC others(1683): Show |
C | exon_loss_variant | HIGH | NA19005.hp2 | a0020 | a0020c0023 | a0020c0023t0075 | a0020c0023t0075g0225 | 1 | 344 | 0.0029 | -1690 | c.-19 others(16): Show |
NBPF9 | ENSG00000269713.9 | transcript | ENST00000698832.1 | protein_coding | 7/30 | chr1 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1888157 | GGGTTGCG others(1681): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0020 | a0001c0002t0020g0206 | 1 | 363 | 0.0028 | -1688 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ZC3H7A_chr16_11745597_11802258 | 11772152 | ACCACTGC others(1681): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG02055.hp1 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0263a0001c0001t0001g0264others(2): Show | 7 | 390 | 0.0180 | -1688 | c.903 others(16): Show |
ZC3H7A | ENSG00000122299.12 | transcript | ENST00000355758.9 | protein_coding | 9/22 | chr16 | TogoVar | ||||||
| ZNF883_chr9_112983129_113017192 | 113015506 | TTCTCAGC others(1679): Show |
T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01256.hp1 HG02074.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0019a0001c0001t0023others(6): Show | a0001c0001t0008g0009a0001c0001t0008g0052a0001c0001t0008g0106others(13): Show | 28 | 446 | 0.0628 | -1686 | c.-62 others(11): Show |
ZNF883 | ENSG00000228623.9 | transcript | ENST00000639662.2 | protein_coding | 3315 | chr9 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80720778 | TCTGCTTC others(1678): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0005a0001c0009a0001c0021 | a0001c0005t0083a0001c0009t0006a0001c0021t0065 | a0001c0005t0083g0017a0001c0009t0006g0142a0001c0021t0065g0112 | 3 | 196 | 0.0153 | -1685 | c.508 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | chr17 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565630 | ACTCTGTC others(1677): Show |
A | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 340 | 0.0029 | -1684 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| TEF_chr22_41376942_41404326 | 41378673 | CGTTGGCC others(1677): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 386 | 0.0026 | -1684 | c.-33 others(11): Show |
TEF | ENSG00000167074.15 | transcript | ENST00000266304.9 | protein_coding | 3268 | chr22 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235528 | CCCGGTGT others(1676): Show |
C | intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0039 | 1 | 106 | 0.0094 | -1683 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624617 | GGTTCACG others(1676): Show |
G | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0182 | 1 | 246 | 0.0041 | -1683 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| HIP1_chr7_75528298_75743941 | 75706463 | TATATATC others(1676): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG02976.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0003a0001c0001t0004a0001c0002t0004others(2): Show | a0001c0001t0003g0099a0001c0001t0003g0162a0001c0001t0004g0100others(3): Show | 6 | 254 | 0.0236 | -1683 | c.120 others(19): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
| NEDD4L_chr18_58039226_58406539 | 58117787 | GCAGCAGC others(1676): Show |
G | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 118 | 0.0085 | -1683 | c.49- others(17): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| YIPF4_chr2_32272904_32321594 | 32315724 | GGCAAGAC others(1676): Show |
G | splice_region_variant | LOW | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0117 | 1 | 398 | 0.0025 | -1683 | c.*10 others(13): Show |
YIPF4 | ENSG00000119820.11 | transcript | ENST00000238831.9 | protein_coding | 6/6 | chr2 | TogoVar |