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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHG4B_chr5_87168_194966 | 176155 | ACACCCCC others(111): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0032 | a0032c0062 | a0032c0062t0020 | a0032c0062t0020g0188 | 1 | 210 | 0.0048 | -118 | c.440 others(19): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 18/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLXDC2_chr10_19811432_20294856 | 20126401 | ATGTATAT others(111): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0004 | a0004c0004t0077 | a0004c0004t0077g0079 | 1 | 180 | 0.0056 | -118 | c.542 others(19): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220705 | AATATATA others(111): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 408 | 0.0025 | -118 | c.124 others(17): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220962 | ATAATTTT others(111): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 408 | 0.0025 | -118 | c.124 others(17): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 340002 | GGGGGGGG others(111): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 25 | 0.0400 | -118 | c.135 others(17): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 10/12 | chrX | TogoVar | |||||||
PPP2R3B_chrX_328933_391907 | 376662 | CCAGTGGG others(111): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 25 | 0.0400 | -118 | c.324 others(17): Show |
PPP2R3B | ENSG00000167393.18 | transcript | ENST00000390665.9 | protein_coding | 1/12 | chrX | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101782472 | CTTCCGCT others(111): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 138 | 0.0073 | -118 | c.94- others(15): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRCP_chr11_82817936_82905430 | 82889004 | TAAGACAT others(111): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01070.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(9): Show | a0001c0001t0001g0118 a0001c0001t0006g0268 a0001c0001t0006g0284 others(39): Show |
43 | 320 | 0.1344 | -118 | c.168 others(19): Show |
PRCP | ENSG00000137509.12 | transcript | ENST00000313010.8 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806149 | ACCACCAT others(111): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00673.hp1 others(20): Show |
a0001a0010 | a0001c0005a0001c0014a0001c0020others(2): Show | a0001c0005t0003a0001c0014t0003a0001c0020t0021others(2): Show | a0001c0005t0003g0004 a0001c0005t0003g0031 a0001c0005t0003g0104 others(20): Show |
23 | 406 | 0.0567 | -118 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRDM15_chr21_41793225_41884344 | 41806201 | CCATCACC others(111): Show |
C | intron_variant | MODIFIER | NA19062.hp1 NA19062.hp2 |
a0001a0016 | a0001c0020a0016c0058 | a0001c0020t0004a0016c0058t0003 | a0001c0020t0004g0331 a0016c0058t0003g0196 |
2 | 406 | 0.0049 | -118 | c.265 others(19): Show |
PRDM15 | ENSG00000141956.14 | transcript | ENST00000398548.6 | protein_coding | 21/23 | chr21 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639259 | GGATGGAT others(111): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0003 | a0002c0003t0116 | a0002c0003t0116g0195 | 1 | 227 | 0.0044 | -118 | c.719 others(17): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRPF6_chr20_63976132_64038100 | 64011752 | ATTTCTTT others(111): Show |
A | intron_variant | MODIFIER | HG02738.hp2 HG03927.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0006g0052 others(1): Show |
4 | 294 | 0.0136 | -118 | c.152 others(17): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111560992 | GAGAGAGA others(111): Show |
G | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0024 | 1 | 408 | 0.0025 | -118 | c.*20 others(11): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 1574 | chr9 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44866437 | CACACACA others(111): Show |
C | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0197 | 1 | 444 | 0.0023 | -118 | c.116 others(16): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
PYCR1_chr17_81927391_81942300 | 81929841 | GGGCATCC others(111): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 2 | 376 | 0.0053 | -118 | c.*32 others(11): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 2549 | chr17 | TogoVar | |||||||
PYCR1_chr17_81927391_81942300 | 81929882 | CCCCCGCA others(111): Show |
C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001a0004 | a0001c0002a0004c0008 | a0001c0002t0001a0001c0002t0006a0004c0008t0001 | a0001c0002t0001g0009 a0001c0002t0001g0029 a0001c0002t0006g0023 others(1): Show |
6 | 376 | 0.0160 | -118 | c.*32 others(11): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 2508 | chr17 | TogoVar | |||||||
PYCR1_chr17_81927391_81942300 | 81929905 | CCCTCCCG others(111): Show |
C | downstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 376 | 0.0027 | -118 | c.*31 others(11): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 2485 | chr17 | TogoVar | |||||||
RARG_chr12_53205569_53237209 | 53207820 | TGCCCAGC others(111): Show |
T | downstream_gene_variant | MODIFIER | NA19057.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0258 |
2 | 356 | 0.0056 | -118 | c.*37 others(11): Show |
RARG | ENSG00000172819.17 | transcript | ENST00000425354.7 | protein_coding | 2748 | chr12 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103909654 | AATATATA others(111): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 |
a0004a0005 | a0004c0065a0005c0084 | a0004c0065t0001a0005c0084t0001 | a0004c0065t0001g0147 a0005c0084t0001g0153 |
2 | 184 | 0.0109 | -118 | c.337 others(17): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1095155 | GCCCCCCA others(111): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(89): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(79): Show |
92 | 406 | 0.2266 | -118 | c.246 others(17): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
RNF212_chr4_1066478_1118564 | 1096213 | GCACACCC others(111): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0155 | 1 | 406 | 0.0025 | -118 | c.246 others(15): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1076380 | CTGAGTCT others(111): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp2 | a0012 | a0012c0021 | a0012c0021t0008 | a0012c0021t0008g0031 | 1 | 324 | 0.0031 | -118 | c.-24 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2075 | chr1 | TogoVar | |||||||
RNFT2_chr12_116733315_116858631 | 116841776 | TATAAATA others(111): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02965.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0021 | a0001c0001t0005g0105 a0001c0003t0021g0038 |
2 | 268 | 0.0075 | -118 | c.120 others(19): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RNFT2_chr12_116733315_116858631 | 116841844 | TAAATATA others(111): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002a0001c0016 | a0001c0001t0004a0001c0002t0002a0001c0016t0002 | a0001c0001t0004g0096 a0001c0002t0002g0129 a0001c0016t0002g0020 |
3 | 268 | 0.0112 | -118 | c.120 others(19): Show |
RNFT2 | ENSG00000135119.15 | transcript | ENST00000257575.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80841413 | ACTCACCA others(111): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 |
a0001 | a0001c0021 | a0001c0021t0018a0001c0021t0079 | a0001c0021t0018g0014 a0001c0021t0079g0005 |
2 | 196 | 0.0102 | -118 | c.121 others(19): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3177922 | CTTCTGCA others(111): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0023 | a0001c0001t0001a0001c0002t0001a0001c0023t0002 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0023t0002g0000 |
10 | 418 | 0.0239 | -118 | c.-87 others(9): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 846 | chr19 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668376 | TCCCTCAG others(111): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 262 | 0.0038 | -118 | c.249 others(19): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74990996 | CTTTCTTT others(111): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02559.hp2 NA18961.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0196 a0001c0001t0003g0023 a0001c0001t0003g0226 others(4): Show |
7 | 370 | 0.0189 | -118 | c.-47 others(11): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4566 | chr15 | TogoVar | |||||||
SCFD2_chr4_52867982_53371061 | 53353755 | AAACCTTG others(111): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01192.hp1 others(34): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(34): Show |
37 | 162 | 0.2284 | -118 | c.839 others(16): Show |
SCFD2 | ENSG00000184178.17 | transcript | ENST00000401642.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
SFSWAP_chr12_131706090_131804738 | 131801536 | CATGGCCC others(111): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02723.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0002a0001c0004t0002a0001c0015t0002 | a0001c0001t0002g0019 a0001c0004t0002g0009 a0001c0004t0002g0010 others(4): Show |
7 | 318 | 0.0220 | -118 | c.*20 others(11): Show |
SFSWAP | ENSG00000061936.10 | transcript | ENST00000261674.9 | protein_coding | 1799 | chr12 | TogoVar | |||||||
SHOX_chrX_625791_656584 | 636363 | TAAATATA others(111): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0192 | a0001c0001t0192g0073 | 1 | 220 | 0.0046 | -118 | c.486 others(17): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SHROOM2_chrX_9781429_9954443 | 9792028 | ATAGAATA others(111): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02132.hp1 HG03195.hp2 others(1): Show |
a0001a0011 | a0001c0001a0001c0003a0011c0053 | a0001c0001t0001a0001c0003t0001a0011c0053t0005 | a0001c0001t0001g0177 a0001c0001t0001g0214 a0001c0003t0001g0193 others(1): Show |
4 | 256 | 0.0156 | -118 | c.165 others(17): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | chrX | TogoVar | |||||||
SKI_chr1_2223319_2315213 | 2309704 | GCCCCCCC others(111): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0257 | 1 | 330 | 0.0030 | -118 | c.*29 others(11): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 7/7 | 2990 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 484088 | ACCCCGCC others(111): Show |
A | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0117 | 1 | 218 | 0.0046 | -118 | c.932 others(15): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47856728 | TAATGAGG others(111): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0176 | a0001c0001t0176g0022 | 1 | 310 | 0.0032 | -118 | c.731 others(17): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 6/10 | chr18 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168615468 | CACCTACA others(111): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0162 | 1 | 180 | 0.0056 | -118 | c.907 others(17): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SNX18_chr5_54512759_54551586 | 54514209 | ATGTATAA others(111): Show |
A | upstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0003 | 1 | 390 | 0.0026 | -118 | c.-37 others(11): Show |
SNX18 | ENSG00000178996.14 | transcript | ENST00000381410.5 | protein_coding | 3549 | chr5 | TogoVar | |||||||
SORCS2_chr4_7187538_7747827 | 7482028 | ACTGCGGA others(111): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0002 | a0001c0002t0067 | a0001c0002t0067g0115 | 1 | 168 | 0.0060 | -118 | c.549 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7482538 | ACTGCGGA others(111): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG01952.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(13): Show | a0001c0001t0003g0053 a0001c0001t0005g0067 a0001c0001t0010g0129 others(13): Show |
16 | 168 | 0.0952 | -118 | c.549 others(19): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPADH_chr10_122667850_122684494 | 122681289 | CGGAGATA others(111): Show |
C | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 414 | 0.0024 | -118 | c.*22 others(11): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 1796 | chr10 | TogoVar | |||||||
SPADH_chr10_122667850_122684494 | 122681584 | GGGAGATA others(111): Show |
G | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -118 | c.*25 others(11): Show |
SPADH | ENSG00000286135.1 | transcript | ENST00000652090.1 | protein_coding | 2091 | chr10 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170482 | TCCTGCTC others(111): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01884.hp2 others(20): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0030 | a0001c0001t0022a0001c0001t0043a0002c0002t0003others(3): Show | a0001c0001t0022g0205 a0001c0001t0022g0206 a0001c0001t0043g0207 others(16): Show |
23 | 251 | 0.0916 | -118 | c.194 others(17): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63948819 | GTTTTCCA others(111): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0040 | 1 | 170 | 0.0059 | -118 | c.68- others(17): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
STARD13_chr13_33098137_33290755 | 33177810 | AAGGAAGG others(111): Show |
A | intron_variant | MODIFIER | HG03942.hp2 NA18973.hp2 NA18983.hp1 others(7): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0014others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0138 a0001c0002t0001g0034 a0001c0002t0001g0070 others(7): Show |
10 | 302 | 0.0331 | -118 | c.170 others(19): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
STARD13_chr13_33098137_33290755 | 33177814 | AAGGAAGG others(111): Show |
A | intron_variant | MODIFIER | NA19062.hp2 NA19064.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0218 a0001c0002t0001g0040 |
2 | 302 | 0.0066 | -118 | c.170 others(19): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
STON1_chr2_48525154_48603513 | 48564481 | TTCTTCTT others(111): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02083.hp1 NA18991.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0009others(2): Show | a0002c0002t0001g0068 a0002c0002t0002g0034 a0002c0002t0009g0131 others(2): Show |
5 | 376 | 0.0133 | -118 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
STRA8_chr7_135228838_135263663 | 135262486 | AAAAAAAA others(111): Show |
A | downstream_gene_variant | MODIFIER | HG03209.hp1 HG03209.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0006 | a0001c0002t0001g0132 a0002c0003t0006g0130 |
2 | 416 | 0.0048 | -118 | c.*39 others(11): Show |
STRA8 | ENSG00000146857.5 | transcript | ENST00000662584.2 | protein_coding | 3824 | chr7 | TogoVar | |||||||
SV2C_chr5_76078383_76338956 | 76139838 | TTAGAAGC others(111): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(32): Show | a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0004g0080 others(37): Show |
40 | 234 | 0.1709 | -118 | c.580 others(17): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TAF13_chr1_109059140_109081003 | 109071957 | AATATATA others(111): Show |
A | intron_variant | MODIFIER | HG02602.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0091 |
2 | 414 | 0.0048 | -118 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
TAF13_chr1_109059140_109081003 | 109071965 | TATATATA others(111): Show |
T | intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 414 | 0.0024 | -118 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar |