| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNT9_chr12_132191372_132334589 | 132233536 | AGACAGTG others(1622): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0008 | 1 | 183 | 0.0055 | -1629 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237832 | CCCTCCCG others(1621): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 106 | 0.0094 | -1628 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237997 | CCCTGCCT others(1621): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 106 | 0.0094 | -1628 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| SH3GLB2_chr9_129002036_129033331 | 129018376 | GACCAGCC others(1621): Show |
G | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 436 | 0.0023 | -1628 | c.334 others(17): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 3/10 | chr9 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943413 | CGTCTGCA others(1620): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02922.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0038a0001c0003t0052a0001c0003t0053others(1): Show | a0001c0001t0038g0092a0001c0003t0052g0064a0001c0003t0053g0074others(1): Show | 4 | 106 | 0.0377 | -1627 | c.*64 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2797 | chr20 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1369838 | TGAGGACA others(1620): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0011 | a0011c0014 | a0011c0014t0004 | a0011c0014t0004g0044 | 1 | 115 | 0.0087 | -1627 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RAPGEF4_chr2_172730845_173057893 | 172838084 | CAGAAGGC others(1618): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0002 | a0001c0001t0001g0111a0001c0001t0002g0039a0001c0008t0002g0030 | 3 | 178 | 0.0169 | -1625 | c.444 others(19): Show |
RAPGEF4 | ENSG00000091428.18 | transcript | ENST00000397081.8 | protein_coding | 4/30 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1127871 | GAGTGCAG others(1617): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0255a0001c0001t0002g0256a0001c0001t0002g0257others(23): Show | 26 | 326 | 0.0798 | -1624 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392982 | CAGGTGGT others(1617): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0261 | 1 | 346 | 0.0029 | -1624 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132149094 | TACCACAC others(1616): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 294 | 0.0034 | -1623 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(1615): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 326 | 0.0031 | -1622 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089158 | GTTGTTGT others(1615): Show |
G | intron_variant | MODIFIER | HG01517.hp1 HG02280.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0110a0001c0001t0111 | a0001c0001t0008g0086a0001c0001t0110g0013a0001c0001t0111g0017 | 3 | 162 | 0.0185 | -1622 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SERPINF2_chr17_1737871_1760265 | 1740014 | GACAGTGA others(1615): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp2 HG03579.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0013a0003c0003t0001g0043a0003c0003t0001g0102 | 3 | 445 | 0.0067 | -1622 | c.-28 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2856 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740014 | GACAGTGA others(1615): Show |
G | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02818.hp2 others(4): Show |
a0001a0004 | a0001c0007a0001c0026a0004c0043 | a0001c0007t0001a0001c0026t0001a0004c0043t0001 | a0001c0007t0001g0005a0001c0007t0001g0055a0001c0007t0001g0056others(2): Show | 7 | 431 | 0.0162 | -1622 | c.*23 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1430 | chr17 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129087951 | CTCCCTGA others(1614): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0073 | 1 | 94 | 0.0106 | -1621 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1117318 | TCCTCCCC others(1613): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0037 | a0001c0004t0037g0017 | 1 | 337 | 0.0030 | -1620 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ANKRD30B_chr18_14743172_14859667 | 14856732 | TGGGAAGA others(1613): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0237 | 1 | 316 | 0.0032 | -1620 | c.*25 others(11): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 2066 | chr18 | TogoVar | ||||||
| SERPINF2_chr17_1737871_1760265 | 1740214 | GCCTGATG others(1612): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01099.hp1 HG01123.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0003g0006a0001c0001t0005g0108others(7): Show | 17 | 445 | 0.0382 | -1619 | c.-26 others(11): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2656 | chr17 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1740214 | GCCTGATG others(1612): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01099.hp2 HG01123.hp1 others(12): Show |
a0001 | a0001c0002a0001c0035 | a0001c0002t0001a0001c0035t0001 | a0001c0002t0001g0001a0001c0035t0001g0001 | 15 | 431 | 0.0348 | -1619 | c.*25 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1630 | chr17 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 401975 | AAATCCTG others(1610): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(47): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(12): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0002t0001g0031a0001c0002t0001g0056a0001c0002t0001g0057others(47): Show | 50 | 88 | 0.5682 | -1617 | c.115 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 9/36 | chr10 | TogoVar | ||||||
| FYB2_chr1_56713789_56824404 | 56743073 | ATTTTAAA others(1610): Show |
A | exon_loss_variant | HIGH | HG00597.hp2 NA19063.hp1 |
a0006 | a0006c0017a0006c0023 | a0006c0017t0001a0006c0023t0002 | a0006c0017t0001g0262a0006c0023t0002g0225 | 2 | 380 | 0.0053 | -1617 | c.138 others(17): Show |
FYB2 | ENSG00000187889.13 | transcript | ENST00000343433.7 | protein_coding | 11/20 | chr1 | TogoVar | ||||||
| SLC35E1_chr19_16544837_16577415 | 16547732 | TAAAAATA others(1610): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0030 | 4 | 350 | 0.0114 | -1617 | c.*43 others(11): Show |
SLC35E1 | ENSG00000127526.15 | transcript | ENST00000595753.6 | protein_coding | 2104 | chr19 | TogoVar | ||||||
| GPATCH2_chr1_217421992_217636090 | 217522695 | AGATTGGC others(1609): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0009 | a0001c0001t0003g0077a0001c0001t0007g0075a0001c0001t0009g0098 | 3 | 188 | 0.0160 | -1616 | c.109 others(19): Show |
GPATCH2 | ENSG00000092978.11 | transcript | ENST00000366935.8 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
| CNTNAP5_chr2_124020287_124926219 | 124086268 | CTCATTGC others(1607): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022a0001c0001t0002g0023 | 2 | 64 | 0.0313 | -1614 | c.82+ others(17): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DZIP3_chr3_108584722_108699840 | 108681732 | ATGGAATA others(1606): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02559.hp1 HG02717.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0002 | a0001c0001t0003g0304a0001c0001t0003g0305a0001c0001t0003g0306others(4): Show | 8 | 318 | 0.0252 | -1613 | c.288 others(18): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 26/32 | chr3 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1089232 | GAAAGTGC others(1606): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0132 | 1 | 162 | 0.0062 | -1613 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235644 | GCCTCCCG others(1605): Show |
G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0062 | 1 | 106 | 0.0094 | -1612 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CCDC127_chr5_191868_223153 | 211766 | TGAGACAG others(1605): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02647.hp2 others(4): Show |
a0002 | a0002c0004 | a0002c0004t0179a0002c0004t0180a0002c0004t0181others(4): Show | a0002c0004t0179g0234a0002c0004t0180g0235a0002c0004t0181g0236others(4): Show | 7 | 406 | 0.0172 | -1612 | c.121 others(17): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
| RNGTT_chr6_88604897_88968618 | 88705321 | CAGTGGTA others(1605): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 220 | 0.0046 | -1612 | c.144 others(21): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(1605): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0014 | a0001c0001t0006g0128a0001c0002t0002g0004a0001c0002t0014g0005 | 3 | 180 | 0.0167 | -1612 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ANKRD33B_chr5_10559070_10662816 | 10573197 | GGTGGCTC others(1604): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0004 | a0004c0019 | a0004c0019t0028 | a0004c0019t0028g0011 | 1 | 324 | 0.0031 | -1611 | c.366 others(18): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316373 | CCATGTGT others(1604): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0265 | 1 | 476 | 0.0021 | -1611 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| PDS5A_chr4_39817863_39982911 | 39969582 | CTTGAACC others(1604): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 356 | 0.0028 | -1611 | c.138 others(17): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 29022571 | ATTAGCCA others(1602): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0160a0001c0001t0015g0175 | 2 | 312 | 0.0064 | -1609 | c.112 others(19): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 7/20 | chr1 | TogoVar | ||||||
| TCEA3_chr1_23375909_23429748 | 23409658 | CTGCCTCA others(1602): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG04184.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0084others(1): Show | 4 | 378 | 0.0106 | -1609 | c.381 others(16): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 4/10 | chr1 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393002 | GGGCAGGT others(1602): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0146 | a0001c0001t0146g0332 | 1 | 346 | 0.0029 | -1609 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393121 | AGGTGGTC others(1602): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 346 | 0.0029 | -1609 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4655048 | AGCTTAAA others(1601): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0002a0009 | a0002c0072a0009c0113 | a0002c0072t0003a0009c0113t0011 | a0002c0072t0003g0066a0009c0113t0011g0043 | 2 | 126 | 0.0159 | -1608 | c.86- others(17): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1601): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(3): Show | a0001c0001t0001g0016a0001c0001t0001g0029a0001c0001t0001g0055others(20): Show | 41 | 476 | 0.0861 | -1608 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316459 | GCATCTCA others(1601): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0002a0002c0003t0010a0004c0006t0003 | a0001c0001t0002g0072a0002c0003t0010g0125a0004c0006t0003g0023others(6): Show | 11 | 476 | 0.0231 | -1608 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| EPPK1_chr8_143852324_143883467 | 143859204 | CGCTCACG others(1601): Show |
C | conservative_inframe_deletion | MODERATE | HG02280.hp1 HG02970.hp2 NA18747.hp2 |
a0074a0147a0160 | a0074c0335a0147c0304a0160c0317 | a0074c0335t0002a0147c0304t0001a0160c0317t0003 | a0074c0335t0002g0307a0147c0304t0001g0055a0160c0317t0003g0141 | 3 | 424 | 0.0071 | -1608 | c.124 others(11): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14124/16005 | 12442/15267 | 4148/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143863761 | GGGCGGCG others(1601): Show |
G | conservative_inframe_deletion | MODERATE | HG01358.hp2 HG01978.hp2 HG01981.hp2 others(4): Show |
a0005a0088a0169others(1): Show | a0005c0004a0088c0179a0169c0217others(1): Show | a0005c0004t0001a0088c0179t0001a0169c0217t0001others(1): Show | a0005c0004t0001g0004a0005c0004t0001g0267a0088c0179t0001g0341others(2): Show | 7 | 424 | 0.0165 | -1608 | c.788 others(9): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 7885/15267 | 2629/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143864197 | TTCCACGG others(1601): Show |
T | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG06807.hp1 |
a0150a0301 | a0150c0287a0301c0069 | a0150c0287t0001a0301c0069t0001 | a0150c0287t0001g0270a0301c0069t0001g0157 | 2 | 424 | 0.0047 | -1608 | c.744 others(9): Show |
p.Glu others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9131/16005 | 7449/15267 | 2483/5088 | chr8 | TogoVar | ||
| SMYD3_chr1_245744347_246512279 | 245974697 | GGCCCAGG others(1601): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 150 | 0.0067 | -1608 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974821 | CAGGGAAA others(1601): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 150 | 0.0067 | -1608 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SYTL2_chr11_85689229_85816141 | 85791615 | CTTTTGTA others(1601): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp2 HG03540.hp1 |
a0001a0009 | a0001c0001a0009c0031 | a0001c0001t0002a0009c0031t0001 | a0001c0001t0002g0153a0001c0001t0002g0154a0009c0031t0001g0044 | 3 | 366 | 0.0082 | -1608 | c.-39 others(21): Show |
SYTL2 | ENSG00000137501.18 | transcript | ENST00000359152.10 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
| UBXN8_chr8_30739164_30772006 | 30746423 | GATATTCA others(1601): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00733.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(48): Show | 64 | 274 | 0.2336 | -1608 | c.88+ others(15): Show |
UBXN8 | ENSG00000104691.16 | transcript | ENST00000265616.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| APOBEC3A_chr22_38952609_38968184 | 38964531 | GGGGCCCC others(1600): Show |
G | downstream_gene_variant | MODIFIER | NA18971.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 360 | 0.0056 | -1607 | c.*20 others(11): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 1348 | chr22 | TogoVar | ||||||
| ARHGAP24_chr4_85470150_86007666 | 85650149 | GAGAATTA others(1600): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0032a0001c0001t0001g0090a0001c0001t0005g0036others(7): Show | 10 | 108 | 0.0926 | -1607 | c.181 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | chr4 | TogoVar | ||||||
| DDX10_chr11_108660069_108945927 | 108931790 | TCCTAATT others(1600): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 320 | 0.0031 | -1607 | c.245 others(19): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |