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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DACT2_chr6_168301904_168324777 | 168316571 | GCATCTCG others(1489): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01891.hp2 others(11): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0002c0033others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(6): Show | a0001c0001t0001g0195 a0001c0001t0001g0232 a0001c0001t0002g0073 others(10): Show |
14 | 474 | 0.0295 | -1496 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DPP6_chr7_154047398_154899285 | 154662549 | GTATCAGC others(1489): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00673.hp2 HG01071.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(9): Show | a0001c0001t0001a0001c0006t0002a0001c0006t0003others(13): Show | a0001c0001t0001g0019 a0001c0006t0002g0015 a0001c0006t0003g0014 others(13): Show |
16 | 38 | 0.4211 | -1496 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40470307 | TTTTTTTA others(1489): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0178 | 1 | 232 | 0.0043 | -1496 | c.-15 others(16): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133896879 | GATCAGGA others(1489): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0006 | a0001c0006t0030 | a0001c0006t0030g0087 | 1 | 198 | 0.0051 | -1496 | c.322 others(19): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2/29 | chr9 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75488766 | ATGAGGTC others(1488): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0273 | 1 | 370 | 0.0027 | -1495 | c.-92 others(17): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2280787 | TGGGGGAA others(1488): Show |
T | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 47 | 0.0213 | -1495 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1487): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01069.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(8): Show | a0001c0001t0001g0225 a0001c0001t0001g0298 a0001c0001t0002g0097 others(18): Show |
28 | 393 | 0.0712 | -1494 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
CDC123_chr10_12191188_12255589 | 12254096 | TGGTGGCT others(1486): Show |
T | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0181 | 1 | 389 | 0.0026 | -1493 | c.*37 others(11): Show |
CDC123 | ENSG00000151465.14 | transcript | ENST00000281141.9 | protein_coding | 3508 | chr10 | TogoVar | |||||||
PADI4_chr1_17303197_17369004 | 17349677 | CCTGGGTG others(1486): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(135): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0009a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0009t0003others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(132): Show |
138 | 370 | 0.3730 | -1493 | c.115 others(19): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1235705 | TACTCCCT others(1485): Show |
T | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0034 | 1 | 100 | 0.0100 | -1492 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
CPNE4_chr3_131528569_132040014 | 131993046 | TAATACAA others(1485): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0026 others(16): Show |
19 | 92 | 0.2065 | -1492 | c.-2+ others(17): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168316266 | ATGTGTGT others(1485): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01123.hp1 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0003others(1): Show | a0001c0001t0002a0001c0011t0002a0002c0003t0003others(1): Show | a0001c0001t0002g0003 a0001c0001t0002g0083 a0001c0011t0002g0084 others(3): Show |
12 | 472 | 0.0254 | -1492 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DACT2_chr6_168301904_168324777 | 168316375 | ATGTGTGT others(1485): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01516.hp2 others(11): Show |
a0002a0004a0005others(1): Show | a0002c0002a0002c0003a0002c0015others(3): Show | a0002c0002t0004a0002c0003t0010a0002c0015t0004others(4): Show | a0002c0002t0004g0043 a0002c0003t0010g0098 a0002c0015t0004g0167 others(5): Show |
14 | 470 | 0.0298 | -1492 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2280804 | AAGAGAGA others(1485): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG02886.hp2 NA18952.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0004 | a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0041 others(1): Show |
4 | 47 | 0.0851 | -1492 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43739501 | TCAGGAAA others(1485): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0067 | a0001c0005t0067g0224 | 1 | 356 | 0.0028 | -1492 | c.143 others(16): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
UCMA_chr10_13216766_13239374 | 13217249 | TAAAAATG others(1485): Show |
T | downstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 222 | 0.0045 | -1492 | c.*33 others(11): Show |
UCMA | ENSG00000165623.10 | transcript | ENST00000378681.8 | protein_coding | 4516 | chr10 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1484): Show |
A | intron_variant | MODIFIER | HG02074.hp2 NA19004.hp2 NA19089.hp2 |
a0002a0005 | a0002c0002a0005c0013 | a0002c0002t0001a0005c0013t0001 | a0002c0002t0001g0185 a0002c0002t0001g0190 a0005c0013t0001g0103 |
3 | 245 | 0.0122 | -1491 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79919548 | ACAGGAAC others(1484): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0280 | 1 | 223 | 0.0045 | -1491 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
UCMA_chr10_13216766_13239374 | 13217249 | TAAAAATG others(1484): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(237): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(134): Show |
240 | 461 | 0.5206 | -1491 | c.*33 others(11): Show |
UCMA | ENSG00000165623.10 | transcript | ENST00000378681.8 | protein_coding | 4516 | chr10 | TogoVar | |||||||
DOLPP1_chr9_129076111_129095438 | 129078226 | GCTCTGCT others(1482): Show |
G | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 412 | 0.0024 | -1489 | c.-29 others(11): Show |
DOLPP1 | ENSG00000167130.18 | transcript | ENST00000372546.9 | protein_coding | 2884 | chr9 | TogoVar | |||||||
SEC61A2_chr10_12124677_12170407 | 12152355 | CAGGCGTG others(1482): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0147 | 1 | 357 | 0.0028 | -1489 | c.462 others(17): Show |
SEC61A2 | ENSG00000065665.21 | transcript | ENST00000298428.14 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DOC2B_chr17_137789_186650 | 166733 | CATGGTCT others(1481): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0235 | 1 | 316 | 0.0032 | -1488 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38984890 | AAGACCTT others(1481): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02258.hp1 HG02280.hp2 others(11): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0002t0004a0001c0002t0014others(6): Show | a0001c0001t0001g0207 a0001c0002t0004g0260 a0001c0002t0014g0199 others(11): Show |
14 | 312 | 0.0449 | -1488 | c.-27 others(21): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 2/29 | chr3 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766021 | CCCCGGGC others(1479): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0005 | a0005c0004 | a0005c0004t0027 | a0005c0004t0027g0369 | 1 | 410 | 0.0024 | -1486 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | |||||||
PRPSAP1_chr17_76304478_76358916 | 76339153 | TCAGCACT others(1479): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02622.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0024a0001c0001t0025 | a0001c0001t0014g0010 a0001c0001t0014g0011 a0001c0001t0014g0013 others(2): Show |
5 | 364 | 0.0137 | -1486 | c.290 others(17): Show |
PRPSAP1 | ENSG00000161542.17 | transcript | ENST00000446526.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
WDR53_chr3_196549177_196573554 | 196550808 | CAAACTGA others(1479): Show |
C | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 a0001c0002t0001g0052 |
3 | 384 | 0.0078 | -1486 | c.*19 others(11): Show |
WDR53 | ENSG00000185798.8 | transcript | ENST00000332629.7 | protein_coding | 3368 | chr3 | TogoVar | |||||||
AHNAK2_chr14_104932253_104983374 | 104949925 | GATGGACT others(1478): Show |
G | disruptive_inframe_deletion | MODERATE | NA18959.hp1 NA18961.hp1 NA18967.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0159 |
5 | 346 | 0.0145 | -1485 | c.404 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5662/18335 | 4041/17388 | 1347/5795 | chr14 | TogoVar | |||
AHNAK2_chr14_104932253_104983374 | 104950165 | GTCCATCT others(1478): Show |
G | disruptive_inframe_deletion | MODERATE | NA18948.hp2 NA18977.hp2 NA19081.hp2 |
a0016 | a0016c0019 | a0016c0019t0005 | a0016c0019t0005g0014 | 3 | 350 | 0.0086 | -1485 | c.380 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5422/18335 | 3801/17388 | 1267/5795 | chr14 | TogoVar | |||
CCDC146_chr7_77117615_77300204 | 77175055 | TTCTACTT others(1478): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG02027.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0247 others(17): Show |
20 | 246 | 0.0813 | -1485 | c.156 others(17): Show |
CCDC146 | ENSG00000135205.15 | transcript | ENST00000285871.5 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
ZNF805_chr19_57235632_57267728 | 57266243 | TCTCCTGA others(1478): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0058a0001c0001t0059 | a0001c0001t0058g0131 a0001c0001t0059g0132 |
2 | 398 | 0.0050 | -1485 | c.*11 others(13): Show |
ZNF805 | ENSG00000204524.7 | transcript | ENST00000414468.3 | protein_coding | 3516 | chr19 | TogoVar | |||||||
ATP2A3_chr17_3918873_3969437 | 3932670 | GCTCAAGT others(1477): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001a0001c0012t0036 | a0001c0001t0001g0196 a0001c0001t0001g0215 a0001c0001t0001g0240 others(3): Show |
6 | 330 | 0.0182 | -1484 | c.261 others(19): Show |
ATP2A3 | ENSG00000074370.18 | transcript | ENST00000397041.8 | protein_coding | 17/20 | chr17 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127634 | CAGGCTGG others(1477): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG02109.hp2 others(19): Show |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0007g0157 a0001c0001t0007g0158 a0001c0001t0007g0159 others(19): Show |
22 | 324 | 0.0679 | -1484 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127635 | AGGCTGGA others(1477): Show |
A | intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 215 | 0.0047 | -1484 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127669 | CCACCGTC others(1477): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0169 | 1 | 197 | 0.0051 | -1484 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127747 | GATCTCAG others(1477): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 282 | 0.0035 | -1484 | c.-1- others(14): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132232190 | CAGAGGAG others(1477): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 181 | 0.0055 | -1484 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 21318573 | TACCTCTA others(1477): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0080 | 1 | 86 | 0.0116 | -1484 | c.155 others(21): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
USP53_chr4_119207713_119300518 | 119210350 | ATATGCTA others(1477): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 NA19001.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020 | a0002c0002t0001g0001 a0002c0002t0020g0190 |
2 | 378 | 0.0053 | -1484 | c.-34 others(11): Show |
USP53 | ENSG00000145390.12 | transcript | ENST00000692078.1 | protein_coding | 2362 | chr4 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22085127 | GTGGCATG others(1476): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(5): Show |
a0003a0006a0009 | a0003c0004a0006c0011a0009c0009 | a0003c0004t0001a0006c0011t0001a0009c0009t0001 | a0003c0004t0001g0000 a0006c0011t0001g0000 a0009c0009t0001g0000 |
8 | 50 | 0.1600 | -1483 | c.*35 others(11): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3518 | chr15 | TogoVar | |||||||
CFAP57_chr1_43167330_43259358 | 43228390 | TAGGCTTC others(1475): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(53): Show |
a0001a0002a0003others(5): Show | a0001c0015a0002c0003a0002c0019others(9): Show | a0001c0015t0001a0002c0003t0002a0002c0019t0001others(9): Show | a0001c0015t0001g0103 a0001c0015t0001g0117 a0001c0015t0001g0132 others(53): Show |
56 | 306 | 0.1830 | -1482 | c.300 others(19): Show |
CFAP57 | ENSG00000243710.8 | transcript | ENST00000372492.9 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DEPDC1B_chr5_60591912_60705166 | 60651953 | ATTTGAAA others(1475): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0019 others(45): Show |
49 | 290 | 0.1690 | -1482 | c.315 others(17): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
FBXL7_chr5_15495180_15944793 | 15719358 | AGCATCTC others(1475): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01109.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0055 others(12): Show |
15 | 122 | 0.1230 | -1482 | c.127 others(21): Show |
FBXL7 | ENSG00000183580.10 | transcript | ENST00000504595.2 | protein_coding | 2/3 | chr5 | TogoVar | |||||||
GRM7_chr3_6856115_7746533 | 7358949 | CTCTACTA others(1475): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0026 a0001c0001t0001g0070 a0001c0001t0002g0025 others(4): Show |
7 | 80 | 0.0875 | -1482 | c.103 others(21): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
LRFN5_chr14_41601876_41909549 | 41673234 | ACCTCCCA others(1475): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 278 | 0.0036 | -1482 | c.-19 others(21): Show |
LRFN5 | ENSG00000165379.14 | transcript | ENST00000298119.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637082 | TGAGATAA others(1474): Show |
T | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0196 | 1 | 213 | 0.0047 | -1481 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744873 | CGGGGTCG others(1474): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0019g0353 others(1): Show |
4 | 285 | 0.0140 | -1481 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PPP2R5A_chr1_212280410_212366853 | 212297793 | CAAGATGA others(1474): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0013 others(217): Show |
235 | 382 | 0.6152 | -1481 | c.181 others(19): Show |
PPP2R5A | ENSG00000066027.12 | transcript | ENST00000261461.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 419504 | CTGTGTGT others(1473): Show |
C | intron_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0082 | 1 | 218 | 0.0046 | -1480 | c.413 others(16): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FGL1_chr8_17859389_17900524 | 17893427 | TATTATAT others(1473): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01167.hp1 HG01169.hp2 others(36): Show |
a0003a0004a0009others(2): Show | a0003c0003a0004c0004a0009c0010others(2): Show | a0003c0003t0001a0004c0004t0001a0009c0010t0001others(2): Show | a0003c0003t0001g0018 a0003c0003t0001g0040 a0003c0003t0001g0220 others(33): Show |
39 | 364 | 0.1071 | -1480 | c.-18 others(16): Show |
FGL1 | ENSG00000104760.17 | transcript | ENST00000427924.5 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
IL21R_chr16_27397174_27457042 | 27434546 | TCCGCCTT others(1473): Show |
T | intron_variant | MODIFIER | NA18974.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 a0001c0001t0001g0289 |
2 | 361 | 0.0055 | -1480 | c.152 others(16): Show |
IL21R | ENSG00000103522.17 | transcript | ENST00000337929.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |