| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SAMM50_chr22_43950442_44001529 | 43984831 | TATGTTGG others(1403): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp1 others(4): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0100 a0001c0006t0001g0102 a0001c0006t0001g0103 others(4): Show |
7 | 376 | 0.0186 | -1410 | c.107 others(18): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1013627 | ACGGTGCC others(1402): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -1409 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GALNT18_chr11_11265877_11627005 | 11358071 | TGCCTCCA others(1402): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG01071.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(9): Show | a0001c0001t0001g0106 a0001c0001t0001g0127 a0001c0001t0001g0162 others(30): Show |
33 | 258 | 0.1279 | -1409 | c.109 others(21): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 6/10 | chr11 | TogoVar | |||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(1401): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(12): Show |
a0001a0002a0004 | a0001c0001a0001c0017a0002c0002others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0017t0006others(7): Show | a0001c0001t0003g0116 a0001c0001t0003g0210 a0001c0001t0007g0118 others(12): Show |
15 | 200 | 0.0750 | -1408 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | |||||||
| RUSF1_chr16_31484475_31513391 | 31505063 | GTGGCCTC others(1400): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 376 | 0.0027 | -1407 | c.415 others(17): Show |
RUSF1 | ENSG00000140688.18 | transcript | ENST00000327237.7 | protein_coding | 2/12 | chr16 | TogoVar | |||||||
| TRARG1_chr17_1274662_1305978 | 1296302 | TTCTCCTG others(1400): Show |
T | intron_variant | MODIFIER | NA19064.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0243 | 1 | 400 | 0.0025 | -1407 | c.520 others(15): Show |
TRARG1 | ENSG00000184811.4 | transcript | ENST00000333813.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806161 | CCCCTCAG others(1399): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 277 | 0.0036 | -1406 | c.*19 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1875 | chr2 | TogoVar | |||||||
| KANK3_chr19_8317584_8348262 | 8346856 | GGAGGCTG others(1399): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp2 others(22): Show |
a0001a0006 | a0001c0001a0001c0030a0006c0006 | a0001c0001t0001a0001c0030t0001a0006c0006t0002 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0017 others(21): Show |
25 | 404 | 0.0619 | -1406 | c.-50 others(11): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3595 | chr19 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806161 | CCCCTCAG others(1399): Show |
C | upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 280 | 0.0036 | -1406 | c.-31 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3031 | chr2 | TogoVar | |||||||
| RAB19_chr7_140399058_140432974 | 140409776 | GAGGTCAG others(1399): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 440 | 0.0023 | -1406 | c.201 others(16): Show |
RAB19 | ENSG00000146955.11 | transcript | ENST00000537763.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2280759 | AGAGGGAG others(1398): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0010 | 1 | 47 | 0.0213 | -1405 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| NRXN3_chr14_78165373_79873291 | 79819756 | TACAGGCA others(1398): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0024 | 1 | 24 | 0.0417 | -1405 | c.409 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1640971 | CTCCTGTG others(1397): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG01981.hp2 HG02004.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0002g0144 others(3): Show |
6 | 221 | 0.0271 | -1404 | c.911 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| RASA3_chr13_113972783_114137623 | 114083770 | ACGGGGAA others(1397): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01167.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0002t0002a0001c0009t0008 | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0015 others(6): Show |
9 | 54 | 0.1667 | -1404 | c.56- others(16): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168560941 | TGGAGGAG others(1397): Show |
T | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 156 | 0.0064 | -1404 | 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 | 168561014 | GCCCTGAG others(1397): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 178 | 0.0056 | -1404 | 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 | 1106794 | GAGTGGAC others(1397): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG01975.hp1 HG02976.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0008others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0008t0001others(1): Show | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0067 others(3): Show |
6 | 180 | 0.0333 | -1404 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| EVI5_chr1_92503696_92790108 | 92719086 | ATGGATTC others(1396): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0053 a0001c0001t0023g0054 |
2 | 166 | 0.0120 | -1403 | c.150 others(19): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 2/19 | chr1 | TogoVar | |||||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1396): Show |
A | intron_variant | MODIFIER | NA19010.hp1 NA19083.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 a0002c0002t0001g0102 |
2 | 244 | 0.0082 | -1403 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149045 | ACTCACAC others(1396): Show |
A | intron_variant | MODIFIER | HG03239.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 185 | 0.0054 | -1403 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1188991 | CTCCAGGA others(1394): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0106 | 1 | 106 | 0.0094 | -1401 | c.186 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 8/9 | chr10 | TogoVar | |||||||
| BBOF1_chr14_74014349_74071092 | 74051137 | GGGAGGCT others(1394): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0337 a0001c0001t0003g0340 a0001c0001t0003g0341 |
3 | 384 | 0.0078 | -1401 | c.128 others(18): Show |
BBOF1 | ENSG00000119636.16 | transcript | ENST00000394009.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| CALD1_chr7_134774634_134975729 | 134857231 | CGATCTCG others(1394): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 260 | 0.0038 | -1401 | c.-41 others(18): Show |
CALD1 | ENSG00000122786.20 | transcript | ENST00000361675.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765457 | TGGGGAGA others(1394): Show |
T | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 410 | 0.0024 | -1401 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| FNBP4_chr11_47711494_47772341 | 47740285 | TGCGCCTG others(1394): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0063 a0001c0001t0001g0232 others(2): Show |
5 | 348 | 0.0144 | -1401 | c.145 others(19): Show |
FNBP4 | ENSG00000109920.13 | transcript | ENST00000263773.10 | protein_coding | 8/16 | chr11 | TogoVar | |||||||
| HIF3A_chr19_46292042_46348433 | 46314067 | TTGGGCTG others(1394): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(104): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0002a0002c0004others(4): Show | a0001c0001t0008a0001c0001t0013a0001c0001t0027others(22): Show | a0001c0001t0008g0098 a0001c0001t0008g0099 a0001c0001t0013g0009 others(103): Show |
107 | 416 | 0.2572 | -1401 | c.102 others(19): Show |
HIF3A | ENSG00000124440.16 | transcript | ENST00000377670.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1371818 | CCTCCAGC others(1394): Show |
C | intron_variant | MODIFIER | HG03927.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0012 a0001c0001t0004g0057 |
2 | 112 | 0.0179 | -1401 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1373093 | AGAGGAGA others(1394): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0085 | 1 | 112 | 0.0089 | -1401 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28846388 | TTTTGCCA others(1394): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0055 | 1 | 55 | 0.0182 | -1401 | c.-39 others(23): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1638675 | GTCCATCC others(1393): Show |
G | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 214 | 0.0047 | -1400 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1638726 | TGATGGGG others(1393): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0127 |
2 | 221 | 0.0090 | -1400 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639466 | ATGATGGG others(1393): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02257.hp1 HG03486.hp1 others(4): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0013 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0014 a0002c0002t0001g0121 others(4): Show |
7 | 217 | 0.0323 | -1400 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639498 | GTCCATCC others(1393): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 HG01175.hp1 others(11): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0021 others(11): Show |
14 | 214 | 0.0654 | -1400 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1639553 | GGGGACAG others(1393): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 221 | 0.0045 | -1400 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932529 | AGAATGAG others(1393): Show |
A | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 95 | 0.0105 | -1400 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765305 | CTTGGGGA others(1393): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(80): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0026a0001c0027others(8): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(18): Show | a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0031 others(76): Show |
83 | 407 | 0.2039 | -1400 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1990776 | CGAGCACC others(1393): Show |
C | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 262 | 0.0038 | -1400 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
| ANKRD30B_chr18_14743172_14859667 | 14856087 | CGGGCAGA others(1392): Show |
C | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0011 | 1 | 313 | 0.0032 | -1399 | c.*19 others(11): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 1421 | chr18 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637186 | GTCCTGTG others(1392): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 211 | 0.0047 | -1399 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637201 | TCCATCCT others(1392): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 1 | 221 | 0.0045 | -1399 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| C2CD6_chr2_201482421_201624178 | 201508948 | TGCGAAAT others(1392): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02922.hp2 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0007a0006c0009others(2): Show | a0001c0001t0001a0002c0007t0001a0006c0009t0001others(2): Show | a0001c0001t0001g0103 a0002c0007t0001g0060 a0006c0009t0001g0021 others(4): Show |
7 | 268 | 0.0261 | -1399 | c.150 others(21): Show |
C2CD6 | ENSG00000155754.15 | transcript | ENST00000439140.6 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
| EXOC3_chr5_438176_472290 | 467405 | CCTCCTGG others(1392): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 416 | 0.0024 | -1399 | c.*50 others(10): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 116 | chr5 | TogoVar | |||||||
| SLC9A3_chr5_465456_529449 | 467405 | CCTCCTGG others(1392): Show |
C | downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0198 | 1 | 216 | 0.0046 | -1399 | c.*45 others(11): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3050 | chr5 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1639397 | GTGTCCCA others(1391): Show |
G | intron_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 | 1 | 220 | 0.0045 | -1398 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| HRNR_chr1_152207076_152229193 | 152218701 | GCTAGATC others(1391): Show |
G | disruptive_inframe_deletion | MODERATE | HG02145.hp2 | a0001 | a0001c0149 | a0001c0149t0001 | a0001c0149t0001g0064 | 1 | 416 | 0.0024 | -1398 | c.153 others(9): Show |
p.Ala others(13): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 3003/9629 | 1530/8553 | 510/2850 | chr1 | TogoVar | |||
| ARK2C_chr18_46329018_46468140 | 46397555 | TGAGGGTG others(1390): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 258 | 0.0039 | -1397 | c.62- others(17): Show |
ARK2C | ENSG00000141622.14 | transcript | ENST00000269439.12 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| DENND5B_chr12_31377226_31596136 | 31501293 | GCCATATG others(1390): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 306 | 0.0033 | -1397 | c.128 others(17): Show |
DENND5B | ENSG00000170456.16 | transcript | ENST00000389082.10 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
| P3H2_chr3_189951728_190125897 | 190121973 | ACCCAGCT others(1390): Show |
A | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02647.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0097 a0001c0001t0003g0099 a0001c0001t0005g0098 others(3): Show |
6 | 302 | 0.0199 | -1397 | c.-26 others(11): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1077 | chr3 | TogoVar | |||||||
| PATJ_chr1_61737480_62168915 | 62157260 | GTTGCAGT others(1390): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp1 others(10): Show |
a0002a0003a0004others(6): Show | a0002c0049a0002c0106a0003c0003others(8): Show | a0002c0049t0001a0002c0106t0001a0003c0003t0001others(8): Show | a0002c0049t0001g0073 a0002c0106t0001g0060 a0003c0003t0001g0016 others(10): Show |
13 | 156 | 0.0833 | -1397 | c.550 others(19): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TACC2_chr10_121984163_122259542 | 122121073 | TAATCCAC others(1390): Show |
T | intron_variant | MODIFIER | NA18980.hp2 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0078 | 1 | 304 | 0.0033 | -1397 | c.557 others(21): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 5/22 | chr10 | TogoVar |