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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KA6_chrX_84053350_84193199 | 84191657 | CATATATA others(315): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0096 | 1 | 272 | 0.0037 | -322 | c.-40 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3459 | chrX | TogoVar | ||||||
RPSA2_chr19_23758004_23833868 | 23803591 | TAAAAAAA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(353): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(146): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0247others(350): Show | 356 | 366 | 0.9727 | -322 | c.-30 others(19): Show |
RPSA2 | ENSG00000288920.1 | transcript | ENST00000484897.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
RSF1_chr11_77655009_77825722 | 77692221 | TACTACTT others(315): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp2 others(78): Show |
a0001a0007a0009 | a0001c0002a0001c0009a0007c0018others(1): Show | a0001c0002t0003a0001c0002t0010a0001c0002t0014others(15): Show | a0001c0002t0003g0018a0001c0002t0003g0019a0001c0002t0003g0020others(78): Show | 81 | 352 | 0.2301 | -322 | c.282 others(17): Show |
RSF1 | ENSG00000048649.14 | transcript | ENST00000308488.11 | protein_coding | 8/15 | chr11 | TogoVar | ||||||
SFI1_chr22_31491536_31623588 | 31591910 | CCCCCCCA others(315): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01884.hp2 others(4): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0005c0005others(2): Show | a0001c0001t0001a0003c0003t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0240a0001c0001t0001g0253a0001c0001t0001g0269others(4): Show | 7 | 322 | 0.0217 | -322 | c.154 others(19): Show |
SFI1 | ENSG00000198089.16 | transcript | ENST00000400288.7 | protein_coding | 15/32 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SKA3_chr13_21148595_21181552 | 21156762 | TAAGAATT others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(328): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(153): Show | 331 | 378 | 0.8757 | -322 | c.111 others(17): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 7/8 | chr13 | TogoVar | ||||||
SLC25A16_chr10_68472998_68532523 | 68512339 | TAAAGATA others(315): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(88): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(39): Show | a0001c0001t0001g0241a0001c0001t0001g0290a0001c0001t0001g0295others(86): Show | 91 | 312 | 0.2917 | -322 | c.223 others(17): Show |
SLC25A16 | ENSG00000122912.15 | transcript | ENST00000609923.6 | protein_coding | 2/8 | chr10 | TogoVar | ||||||
SLC38A9_chr5_55620848_55717324 | 55696112 | GGGTGGGG others(315): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0118 | 2 | 350 | 0.0057 | -322 | c.113 others(17): Show |
SLC38A9 | ENSG00000177058.12 | transcript | ENST00000396865.7 | protein_coding | 3/15 | chr5 | TogoVar | ||||||
SPOCK3_chr4_166728384_167239494 | 167188017 | GCAGTTCT others(315): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG01346.hp1 others(21): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0046a0001c0001t0001g0053others(21): Show | 24 | 144 | 0.1667 | -322 | c.189 others(19): Show |
SPOCK3 | ENSG00000196104.11 | transcript | ENST00000357545.9 | protein_coding | 2/10 | chr4 | TogoVar | ||||||
SUN3_chr7_47982148_48034107 | 48002135 | TTTGATTT others(315): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02055.hp2 others(38): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0002t0001others(1): Show | a0001c0001t0001g0016a0001c0001t0001g0031a0001c0001t0001g0032others(30): Show | 41 | 414 | 0.0990 | -322 | c.577 others(17): Show |
SUN3 | ENSG00000164744.14 | transcript | ENST00000297325.9 | protein_coding | 6/9 | chr7 | TogoVar | ||||||
TAF4_chr20_61969798_62070881 | 61995580 | TGAGCCGG others(315): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02647.hp1 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(5): Show | 8 | 314 | 0.0255 | -322 | c.309 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 14/14 | chr20 | TogoVar | ||||||
TMEM106B_chr7_12206294_12248367 | 12242077 | TAAAAAAA others(315): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(254): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(96): Show | a0001c0001t0002g0005a0001c0001t0002g0021a0001c0001t0002g0050others(165): Show | 257 | 398 | 0.6457 | -322 | c.*10 others(13): Show |
TMEM106B | ENSG00000106460.20 | transcript | ENST00000396668.8 | protein_coding | 8/8 | 10111 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
TMEM120B_chr12_121707752_121787068 | 121747270 | CTGGGGTA others(315): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0125 | 1 | 314 | 0.0032 | -322 | c.189 others(16): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
TP63_chr3_189626389_189902276 | 189858105 | TAAGAAAA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0013others(210): Show | 213 | 312 | 0.6827 | -322 | c.580 others(17): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000264731.8 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TP63_chr3_189784659_189902276 | 189858105 | TAAGAAAA others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(261): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0043a0001c0001t0001g0056a0001c0001t0001g0060others(259): Show | 264 | 398 | 0.6633 | -322 | c.298 others(17): Show |
TP63 | ENSG00000073282.14 | transcript | ENST00000354600.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TPK1_chr7_144446941_144841053 | 144664088 | TGGGCAAA others(315): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0018others(46): Show | 49 | 118 | 0.4153 | -322 | c.186 others(19): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 4/8 | chr7 | TogoVar | ||||||
TRIM60_chr4_165026999_165046749 | 165039500 | TAGATTCA others(315): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01884.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0127a0001c0001t0004g0027a0001c0001t0004g0035others(3): Show | 9 | 388 | 0.0232 | -322 | c.-5+ others(13): Show |
TRIM60 | ENSG00000176979.14 | transcript | ENST00000512596.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TRPC4AP_chr20_34997404_35097807 | 35033852 | TAAAAGAG others(315): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0042others(230): Show | 235 | 334 | 0.7036 | -322 | c.105 others(18): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 8/18 | chr20 | TogoVar | ||||||
UBE2E3_chr2_180975605_181068425 | 181061100 | AGACCACT others(315): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(280): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(270): Show | 283 | 338 | 0.8373 | -322 | c.526 others(15): Show |
UBE2E3 | ENSG00000170035.16 | transcript | ENST00000410062.9 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
VPS53_chr17_503668_719839 | 513904 | TCTCATTT others(315): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0108a0001c0001t0118 | a0001c0001t0108g0148a0001c0001t0118g0195 | 2 | 232 | 0.0086 | -322 | c.*49 others(11): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 22/22 | 4902 | chr17 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81154539 | AAACTCCT others(314): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00735.hp1 others(74): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0011others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(32): Show | a0001c0001t0001g0014a0001c0001t0001g0242a0001c0001t0001g0255others(71): Show | 77 | 368 | 0.2092 | -321 | c.55+ others(17): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289843 | CCGTGTCC others(314): Show |
C | downstream_gene_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0098 | 1 | 295 | 0.0034 | -321 | c.*34 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2547 | chr1 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90564604 | TGGCGTTT others(314): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(105): Show |
a0001a0002a0003others(51): Show | a0001c0002a0001c0012a0001c0017others(70): Show | a0001c0002t0001a0001c0012t0001a0001c0017t0004others(72): Show | a0001c0002t0001g0071a0001c0002t0001g0073a0001c0002t0001g0076others(105): Show | 108 | 158 | 0.6835 | -321 | c.22+ others(15): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGPAT5_chr8_6703642_6766503 | 6730306 | CTAATCAT others(314): Show |
C | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0131 | 1 | 404 | 0.0025 | -321 | c.290 others(14): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6730308 | AATCATAG others(314): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(303): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(238): Show | 306 | 404 | 0.7574 | -321 | c.290 others(14): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGAP24_chr4_85470150_86007666 | 85541131 | GCATCCAT others(314): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0030others(29): Show | 32 | 108 | 0.2963 | -321 | c.-20 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9202166 | TAACAAAT others(314): Show |
T | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03579.hp2 NA18906.hp1 |
a0001 | a0001c0003a0001c0004a0001c0007 | a0001c0003t0004a0001c0004t0005a0001c0007t0004 | a0001c0003t0004g0200a0001c0004t0005g0185a0001c0007t0004g0037 | 3 | 210 | 0.0143 | -321 | c.-49 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 4645 | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44556448 | TTCTTTTT others(314): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(116): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0016a0001c0001t0001g0027others(116): Show | 119 | 198 | 0.6010 | -321 | c.377 others(21): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CD58_chr1_116509534_116576026 | 116535542 | TAAAAATT others(314): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00597.hp1 others(109): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(81): Show | 112 | 288 | 0.3889 | -321 | c.628 others(15): Show |
CD58 | ENSG00000116815.16 | transcript | ENST00000369489.10 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61399110 | AAAAACCC others(314): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(51): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0002g0059others(66): Show | 69 | 106 | 0.6509 | -321 | c.169 others(21): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CDK15_chr2_201801537_201900550 | 201856925 | TAAGATAA others(314): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(137): Show |
a0001a0003a0004 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0207a0001c0001t0001g0217a0001c0001t0001g0231others(133): Show | 140 | 322 | 0.4348 | -321 | c.100 others(19): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CECR2_chr22_17364460_17563151 | 17404351 | TCTGGACC others(314): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp1 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0001c0017others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0035a0001c0001t0001g0093a0001c0001t0001g0103others(34): Show | 37 | 324 | 0.1142 | -321 | c.126 others(19): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42717087 | AGACTGGC others(314): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02258.hp1 others(11): Show |
a0001a0002 | a0001c0003a0001c0004a0002c0002 | a0001c0003t0001a0001c0004t0007a0002c0002t0004 | a0001c0003t0001g0141a0001c0003t0001g0142a0001c0003t0001g0143others(11): Show | 14 | 282 | 0.0497 | -321 | c.249 others(17): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14600587 | CTTTTTTT others(314): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 364 | 0.0028 | -321 | c.894 others(15): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNTN4_chr3_2093866_3062959 | 2591342 | AGATTTGT others(314): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0099a0001c0001t0002g0028a0001c0001t0002g0030others(42): Show | 45 | 116 | 0.3879 | -321 | c.55+ others(17): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COP1_chr1_175939831_176212286 | 176048878 | CAAAAGAA others(314): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0006 | a0001c0006t0012 | a0001c0006t0012g0268 | 1 | 300 | 0.0033 | -321 | c.127 others(19): Show |
COP1 | ENSG00000143207.21 | transcript | ENST00000367669.8 | protein_coding | 11/19 | chr1 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14409411 | TAAAGAAA others(314): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0018 | 1 | 148 | 0.0068 | -321 | c.183 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14409415 | GAAAAAGT others(314): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(93): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0034others(93): Show | 96 | 148 | 0.6487 | -321 | c.183 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1394684 | AGAGTCGT others(314): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | -321 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DLGAP2_chr8_732628_1713476 | 1394768 | CGTCCTCC others(314): Show |
C | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 40 | 0.0250 | -321 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654053 | TAAAAGTT others(314): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(53): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0003a0001c0012others(51): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(51): Show | a0001c0001t0001g0124a0001c0003t0001g0087a0001c0012t0001g0035others(53): Show | 56 | 178 | 0.3146 | -321 | c.259 others(19): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EPHA6_chr3_96809594_97766532 | 97716272 | GAAAAAGA others(314): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG02055.hp2 HG02258.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0080others(18): Show | 21 | 82 | 0.2561 | -321 | c.278 others(19): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
FNDC11_chr20_63549159_63561695 | 63559390 | ATGGGAGT others(314): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 416 | 0.0024 | -321 | c.*27 others(11): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2696 | chr20 | TogoVar | ||||||
FNDC11_chr20_63549159_63561695 | 63559466 | GGTCAGGT others(314): Show |
G | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01516.hp1 HG02135.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0015 | 4 | 416 | 0.0096 | -321 | c.*28 others(11): Show |
FNDC11 | ENSG00000125531.7 | transcript | ENST00000370097.2 | protein_coding | 2772 | chr20 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132212518 | TCGACACG others(314): Show |
T | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0121 | 1 | 183 | 0.0055 | -321 | c.107 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132212589 | CCTCAGAC others(314): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG02027.hp2 HG02040.hp1 others(25): Show |
a0001a0004 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(3): Show | a0001c0003t0001g0012a0001c0003t0001g0014a0001c0003t0001g0041others(25): Show | 28 | 183 | 0.1530 | -321 | c.107 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239086052 | CTCTGCTC others(314): Show |
C | intron_variant | MODIFIER | HG02683.hp2 | a0008 | a0008c0029 | a0008c0029t0042 | a0008c0029t0042g0204 | 1 | 242 | 0.0041 | -321 | c.244 others(19): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 19/26 | chr2 | TogoVar | ||||||
HDAC9_chr7_18490749_19007416 | 18786465 | CCTTTCGT others(314): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG02109.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(7): Show | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0072others(9): Show | 12 | 156 | 0.0769 | -321 | c.221 others(19): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
HELZ2_chr20_63553086_63579239 | 63559390 | ATGGGAGT others(314): Show |
A | intron_variant | MODIFIER | HG02559.hp2 | a0023 | a0023c0020 | a0023c0020t0096 | a0023c0020t0096g0108 | 1 | 390 | 0.0026 | -321 | c.782 others(16): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63559466 | GGTCAGGT others(314): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG01516.hp2 HG02135.hp1 others(2): Show |
a0002a0018 | a0002c0002a0002c0005a0018c0030 | a0002c0002t0057a0002c0005t0006a0002c0005t0018others(2): Show | a0002c0002t0057g0305a0002c0005t0006g0299a0002c0005t0018g0300others(2): Show | 5 | 390 | 0.0128 | -321 | c.782 others(16): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44317218 | TGGGTGCT others(314): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp2 others(14): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0007 | a0001c0001t0001a0001c0001t0002a0003c0005t0003others(1): Show | a0001c0001t0001g0213a0001c0001t0001g0260a0001c0001t0001g0263others(14): Show | 17 | 294 | 0.0578 | -321 | c.961 others(21): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar |