| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NAT8_chr2_73635723_73647422 | 73637505 | CAGTAAAG others(306): Show |
C | downstream_gene_variant | MODIFIER | NA18945.hp2 | a0012 | a0012c0011 | a0012c0011t0007 | a0012c0011t0007g0016 | 1 | 396 | 0.0025 | -313 | c.*31 others(11): Show |
NAT8 | ENSG00000144035.4 | transcript | ENST00000272425.4 | protein_coding | 3217 | chr2 | TogoVar | ||||||
| NPIPB5_chr16_22505891_22541535 | 22539498 | AAAAAAAA others(306): Show |
A | downstream_gene_variant | MODIFIER | HG01975.hp2 HG01981.hp2 |
a0031a0032 | a0031c0035a0032c0034 | a0031c0035t0008a0032c0034t0007 | a0031c0035t0008g0013a0032c0034t0007g0011 | 2 | 47 | 0.0426 | -313 | c.*31 others(11): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 2964 | chr16 | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 92355131 | TAAAAGAA others(306): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG02040.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0031a0001c0001t0001g0071others(2): Show | 5 | 154 | 0.0325 | -313 | c.314 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 54757267 | GAATTCTA others(306): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG00738.hp2 others(53): Show |
a0001a0002a0003others(21): Show | a0001c0001a0002c0002a0002c0021others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0022a0001c0001t0001g0089a0001c0001t0001g0090others(53): Show | 56 | 102 | 0.5490 | -313 | c.-29 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54757267 | GAATTCTA others(306): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG00738.hp1 others(48): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0007a0002c0002others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0021others(48): Show | 51 | 94 | 0.5426 | -313 | c.-29 others(19): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
| PIK3C2A_chr11_17081575_17212986 | 17174292 | TAAAACAA others(306): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(220): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0018others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0147a0001c0001t0001g0168a0001c0001t0002g0001others(219): Show | 223 | 342 | 0.6521 | -313 | c.-65 others(17): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
| PRAMEF19_chr1_13363431_13376947 | 13375891 | GGAGGCTG others(306): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | -313 | c.-43 others(11): Show |
PRAMEF19 | ENSG00000204480.9 | transcript | ENST00000376101.4 | protein_coding | 3945 | chr1 | TogoVar | ||||||
| PRDM15_chr21_41793225_41884344 | 41805991 | CCACCACC others(306): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0238 | 1 | 406 | 0.0025 | -313 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | ||||||
| RALGAPB_chr20_38467843_38583858 | 38510613 | TGAAAATC others(306): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp1 HG01361.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(11): Show | a0001c0001t0004g0001a0001c0001t0004g0017a0001c0001t0004g0018others(37): Show | 44 | 216 | 0.2037 | -313 | c.872 others(17): Show |
RALGAPB | ENSG00000170471.15 | transcript | ENST00000262879.11 | protein_coding | 6/29 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RNF150_chr4_140854807_141138469 | 141005774 | AATATTTT others(306): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02723.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(8): Show | a0001c0001t0006g0130a0001c0001t0006g0131a0001c0001t0007g0086others(9): Show | 12 | 184 | 0.0652 | -313 | c.485 others(19): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
| RNF222_chr17_8385702_8402827 | 8386084 | GCGGAGTC others(306): Show |
G | downstream_gene_variant | MODIFIER | HG01099.hp2 HG02602.hp1 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0049 | 5 | 436 | 0.0115 | -313 | c.*64 others(11): Show |
RNF222 | ENSG00000189051.6 | transcript | ENST00000399398.3 | protein_coding | 4617 | chr17 | TogoVar | ||||||
| RPL10_chrX_154393377_154407332 | 154400937 | TTGACGGG others(306): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0003 | 2 | 276 | 0.0073 | -313 | c.*88 others(8): Show |
RPL10 | ENSG00000147403.18 | transcript | ENST00000369817.7 | protein_coding | 7/7 | 88 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| RPL26_chr17_8372516_8388193 | 8386084 | GCGGAGTC others(306): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02602.hp2 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0014 | 5 | 422 | 0.0119 | -313 | c.-32 others(11): Show |
RPL26 | ENSG00000161970.15 | transcript | ENST00000648839.1 | protein_coding | 2892 | chr17 | TogoVar | ||||||
| SIK3_chr11_116838402_117103428 | 116841749 | TAGAAGGC others(306): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0026others(6): Show | a0001c0001t0011a0001c0002t0003a0001c0002t0005others(11): Show | a0001c0001t0011g0034a0001c0001t0011g0035a0001c0001t0011g0036others(90): Show | 93 | 366 | 0.2541 | -313 | c.*35 others(11): Show |
SIK3 | ENSG00000160584.17 | transcript | ENST00000445177.6 | protein_coding | 1652 | chr11 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168967425 | GCCATCTC others(306): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 NA18974.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0016a0002c0005others(1): Show | a0001c0010t0008a0001c0016t0008a0002c0005t0003others(1): Show | a0001c0010t0008g0068a0001c0016t0008g0080a0002c0005t0003g0114others(1): Show | 4 | 132 | 0.0303 | -313 | c.414 others(19): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
| SOX5_chr12_23524504_23954670 | 23642791 | TAAAAGGT others(306): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(15): Show | a0001c0001t0002g0105a0001c0001t0008g0067a0001c0001t0008g0205others(19): Show | 22 | 212 | 0.1038 | -313 | c.932 others(17): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 7/14 | chr12 | TogoVar | ||||||
| SPATA17_chr1_217626344_217876696 | 217744169 | CAAAGAAT others(306): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(82): Show | 85 | 252 | 0.3373 | -313 | c.519 others(17): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SPEF2_chr5_35612863_35819611 | 35614071 | TAAAAAAT others(306): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(102): Show |
a0001a0002a0003others(24): Show | a0001c0002a0001c0003a0002c0001others(33): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(33): Show | a0001c0002t0001g0067a0001c0002t0001g0195a0001c0002t0001g0196others(102): Show | 105 | 268 | 0.3918 | -313 | c.-39 others(11): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 3791 | chr5 | TogoVar | ||||||
| SYT1_chr12_78859774_79457008 | 79313879 | TATTAGCG others(306): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG03195.hp2 NA19240.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008 | a0001c0002t0002g0020a0001c0002t0006g0007a0001c0002t0008g0002 | 3 | 62 | 0.0484 | -313 | c.810 others(19): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TCF3_chr19_1604292_1657615 | 1628459 | CAGGGGAT others(306): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0009 | a0001c0009t0049 | a0001c0009t0049g0167 | 1 | 352 | 0.0028 | -313 | c.299 others(17): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129087979 | GGGTGTCC others(306): Show |
G | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 94 | 0.0106 | -313 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129088240 | GGGGTGTC others(306): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0060 | 1 | 94 | 0.0106 | -313 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129356143 | AGGGATTT others(306): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0015others(58): Show | 61 | 94 | 0.6489 | -313 | c.111 others(21): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 3/8 | chr12 | TogoVar | ||||||
| TMEM145_chr19_42308309_42330064 | 42319485 | CGCCCAGG others(306): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 220 | 0.0046 | -313 | c.107 others(17): Show |
TMEM145 | ENSG00000167619.13 | transcript | ENST00000301204.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TRIML1_chr4_188134441_188152743 | 188152197 | GGGGAGTG others(306): Show |
G | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 228 | 0.0044 | -313 | c.*48 others(11): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4455 | chr4 | TogoVar | ||||||
| UBE3D_chr6_82887390_83070841 | 82966355 | TAAAAACC others(306): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(87): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0055others(86): Show | 90 | 186 | 0.4839 | -313 | c.101 others(19): Show |
UBE3D | ENSG00000118420.17 | transcript | ENST00000369747.8 | protein_coding | 8/9 | chr6 | TogoVar | ||||||
| WDR81_chr17_1719704_1743585 | 1739180 | AGCCTGAT others(306): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0005 | 1 | 431 | 0.0023 | -313 | c.*14 others(11): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 596 | chr17 | TogoVar | ||||||
| ZBTB16_chr11_114054711_114261765 | 114249477 | AAAAAAAG others(306): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041a0001c0001t0042others(1): Show | a0001c0001t0040g0255a0001c0001t0041g0035a0001c0001t0042g0039others(1): Show | 4 | 278 | 0.0144 | -313 | c.179 others(17): Show |
ZBTB16 | ENSG00000109906.15 | transcript | ENST00000335953.9 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ZNF425_chr7_149097784_149131324 | 149121081 | TTTTTTTT others(306): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02809.hp2 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0004a0004c0008 | a0001c0002t0001a0002c0004t0004a0004c0008t0008 | a0001c0002t0001g0174a0002c0004t0004g0236a0004c0008t0008g0020others(1): Show | 5 | 320 | 0.0156 | -313 | c.19- others(15): Show |
ZNF425 | ENSG00000204947.9 | transcript | ENST00000378061.7 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
| ABCA3_chr16_2270881_2345728 | 2300930 | TAAAATCA others(305): Show |
T | intron_variant | MODIFIER | HG02717.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0008a0001c0001t0014g0249 | 2 | 252 | 0.0079 | -312 | c.146 others(18): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 12/32 | chr16 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1236968 | CCCTCCCG others(305): Show |
C | intron_variant | MODIFIER | NA18998.hp1 | a0011 | a0011c0008 | a0011c0008t0016 | a0011c0008t0016g0003 | 1 | 106 | 0.0094 | -312 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237013 | TCTGCCTC others(305): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0092 | 1 | 106 | 0.0094 | -312 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ATP13A4_chr3_193393967_193559895 | 193436806 | TAAAACCT others(305): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02280.hp1 others(13): Show |
a0001a0002 | a0001c0006a0002c0002a0002c0003others(1): Show | a0001c0006t0001a0001c0006t0007a0002c0002t0001others(5): Show | a0001c0006t0001g0113a0001c0006t0001g0222a0001c0006t0007g0029others(13): Show | 16 | 302 | 0.0530 | -312 | c.267 others(19): Show |
ATP13A4 | ENSG00000127249.15 | transcript | ENST00000342695.9 | protein_coding | 23/29 | chr3 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79358114 | CCTGGGTC others(305): Show |
C | intron_variant | MODIFIER | NA18948.hp2 NA19088.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0136a0001c0003t0001g0137 | 2 | 298 | 0.0067 | -312 | c.290 others(18): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CABLES1_chr18_23130485_23265470 | 23218300 | CCTCCCGC others(305): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02717.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0115a0001c0001t0002g0117 | 3 | 278 | 0.0108 | -312 | c.108 others(19): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CACNA1H_chr16_1148106_1226768 | 1191033 | CTCTGACC others(305): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0058 | a0058c0069 | a0058c0069t0033 | a0058c0069t0033g0049 | 1 | 338 | 0.0030 | -312 | c.300 others(17): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CAMK2B_chr7_44212154_44330594 | 44227422 | GTGGGGGA others(305): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02300.hp1 |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0002a0002c0011t0008 | a0001c0001t0002g0087a0002c0011t0008g0224 | 2 | 242 | 0.0083 | -312 | c.146 others(18): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61675289 | ATGGAAAC others(305): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0083 | 1 | 106 | 0.0094 | -312 | c.170 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784323 | TCCCAGTT others(305): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01358.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0032a0001c0001t0001g0046a0002c0002t0005g0014 | 3 | 106 | 0.0283 | -312 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784462 | GACAGTTC others(305): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0045 | 1 | 106 | 0.0094 | -312 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CEBPG_chr19_33368709_33387686 | 33372587 | TAAAACGC others(305): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0033 | 1 | 436 | 0.0023 | -312 | c.-14 others(11): Show |
CEBPG | ENSG00000153879.9 | transcript | ENST00000284000.9 | protein_coding | 1121 | chr19 | TogoVar | ||||||
| CERS6_chr2_168451272_168780134 | 168538952 | GGAAAATA others(305): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(153): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(153): Show | 156 | 176 | 0.8864 | -312 | c.171 others(17): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CHFR_chr12_132827356_132892605 | 132868806 | ATGGGGCC others(305): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0011others(51): Show | a0001c0001t0008g0013a0001c0001t0008g0240a0001c0001t0008g0256others(87): Show | 98 | 378 | 0.2593 | -312 | c.583 others(15): Show |
CHFR | ENSG00000072609.18 | transcript | ENST00000450056.7 | protein_coding | 6/17 | chr12 | TogoVar | ||||||
| CLIC4_chr1_24740447_24849321 | 24799924 | GTCAGCCC others(305): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01106.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0059a0001c0001t0002g0135a0001c0001t0002g0137others(35): Show | 38 | 344 | 0.1105 | -312 | c.182 others(17): Show |
CLIC4 | ENSG00000169504.15 | transcript | ENST00000374379.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DACH2_chrX_86143451_86837602 | 86282766 | AGACACTT others(305): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00609.hp1 others(133): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(133): Show | 136 | 166 | 0.8193 | -312 | c.489 others(19): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| DDX51_chr12_132131594_132149319 | 132135638 | CCCCGAGT others(305): Show |
C | downstream_gene_variant | MODIFIER | HG02148.hp1 HG02257.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 | 2 | 334 | 0.0060 | -312 | c.*33 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 955 | chr12 | TogoVar | ||||||
| DDX51_chr12_132131594_132149319 | 132135748 | CGAGTGTG others(305): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp1 HG02486.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0004 | 2 | 334 | 0.0060 | -312 | c.*32 others(11): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 845 | chr12 | TogoVar | ||||||
| DENND11_chr7_141651728_141707166 | 141669797 | ATCATACA others(305): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0266 | 1 | 345 | 0.0029 | -312 | c.682 others(17): Show |
DENND11 | ENSG00000257093.7 | transcript | ENST00000536163.6 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1627902 | CGACCTCA others(305): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp1 HG01361.hp1 others(16): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(2): Show | a0001c0003t0001a0001c0003t0006a0001c0003t0013others(12): Show | a0001c0003t0001g0025a0001c0003t0001g0026a0001c0003t0001g0027others(16): Show | 19 | 40 | 0.4750 | -312 | c.159 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DPYSL3_chr5_147385808_147515068 | 147402341 | CTTTTTTT others(305): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01934.hp1 others(20): Show |
a0001a0003 | a0001c0002a0003c0010 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0223a0001c0002t0001g0235a0001c0002t0002g0106others(20): Show | 23 | 298 | 0.0772 | -312 | c.115 others(17): Show |
DPYSL3 | ENSG00000113657.13 | transcript | ENST00000343218.10 | protein_coding | 8/13 | chr5 | TogoVar |