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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRB10_chr7_50585068_50787896 | 50607304 | TGCATTCA others(5392): Show |
T | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0119 | 1 | 278 | 0.0036 | -5399 | c.119 others(16): Show |
GRB10 | ENSG00000106070.20 | transcript | ENST00000401949.6 | protein_coding | 13/18 | chr7 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771496 | TCCTCCTC others(5392): Show |
T | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 160 | 0.0063 | -5399 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56775467 | AGAAGAAA others(5392): Show |
A | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 160 | 0.0063 | -5399 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SCN4B_chr11_118128377_118157823 | 118139466 | TACACATT others(5392): Show |
T | exon_loss_variant | HIGH | HG01099.hp2 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0186 | 1 | 446 | 0.0022 | -5399 | c.234 others(16): Show |
SCN4B | ENSG00000177098.9 | transcript | ENST00000324727.9 | protein_coding | 4/5 | chr11 | TogoVar | |||||||
KRTAP9-6_chr17_41260378_41270860 | 41265463 | TGACCACC others(5390): Show |
T | frameshift_variant others(2): Show |
HIGH | NA18987.hp2 | a0000 | a0000c0006 | a0000c0006t0000 | a0000c0006t0000g0000 | 1 | 248 | 0.0040 | -5397 | c.87_ others(8): Show |
p.Val others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 87/483 | 87/483 | 29/160 | chr17 | TogoVar | |||
DHRSX_chrX_2214506_2505976 | 2276916 | GGAACAGG others(5386): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | -5393 | c.388 others(17): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
NELL1_chr11_20664586_21580686 | 20823008 | ACAAGGGT others(5386): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053 | 1 | 88 | 0.0114 | -5393 | c.336 others(19): Show |
NELL1 | ENSG00000165973.19 | transcript | ENST00000357134.10 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PSD3_chr8_18522303_19018703 | 18996083 | CCACACAA others(5385): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030 | a0001c0001t0003g0147 a0001c0001t0030g0152 |
2 | 228 | 0.0088 | -5392 | c.21+ others(17): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
RIMKLB_chr12_8692991_8782191 | 8741162 | AGCCACTG others(5385): Show |
A | intron_variant | MODIFIER | HG01993.hp1 HG02258.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 others(2): Show |
5 | 294 | 0.0170 | -5392 | c.176 others(17): Show |
RIMKLB | ENSG00000166532.16 | transcript | ENST00000535829.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48541698 | AAAAGGGA others(5382): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0007 | a0007c0011 | a0007c0011t0003 | a0007c0011t0003g0130 | 1 | 178 | 0.0056 | -5389 | c.143 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | chr7 | TogoVar | |||||||
KRTAP3-3_chr17_40988430_40999164 | 40993776 | AGGCACTG others(5381): Show |
A | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 | a0000 | a0000c0000 | a0000c0000t0010 | a0000c0000t0010g0000 | 1 | 471 | 0.0021 | -5388 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 1/1 | 388/735 | 1/297 | 1/98 | chr17 | TogoVar | |||
RAB3GAP1_chr2_135047292_135175710 | 135068435 | TAGACTAT others(5380): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0077 | 1 | 280 | 0.0036 | -5387 | c.150 others(19): Show |
RAB3GAP1 | ENSG00000115839.19 | transcript | ENST00000264158.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF143_chr11_9456012_9533524 | 9482172 | ATGTTAGC others(5380): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02622.hp1 HG02809.hp2 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0019 a0003c0004t0001g0020 a0003c0004t0001g0021 others(2): Show |
5 | 332 | 0.0151 | -5387 | c.645 others(17): Show |
ZNF143 | ENSG00000166478.10 | transcript | ENST00000396602.7 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SCLT1_chr4_128878993_129098539 | 128923191 | ATCCCAGC others(5379): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 288 | 0.0035 | -5386 | c.182 others(20): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 18/20 | chr4 | TogoVar | |||||||
BNC2_chr9_16404503_16875670 | 16463303 | TTTTTTTT others(5375): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0097 | a0001c0001t0097g0080 | 1 | 176 | 0.0057 | -5382 | c.670 others(19): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154121 | GGCGGGAC others(5375): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG03834.hp2 | a0000 | a0000c0006 | a0000c0006t0005 | a0000c0006t0005g0055 | 1 | 432 | 0.0023 | -5382 | c.300 others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29735106 | CCCCAGAG others(5373): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 |
a0001a0004 | a0001c0020a0004c0045 | a0001c0020t0005a0004c0045t0002 | a0001c0020t0005g0005 a0004c0045t0002g0043 |
2 | 80 | 0.0250 | -5380 | c.668 others(19): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ARFGEF1_chr8_67192658_67348781 | 67244337 | GATCTCAC others(5370): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01192.hp2 HG01978.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0002t0001a0001c0007t0001 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 others(11): Show |
14 | 208 | 0.0673 | -5377 | c.285 others(19): Show |
ARFGEF1 | ENSG00000066777.9 | transcript | ENST00000262215.8 | protein_coding | 19/38 | chr8 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77308816 | AAAATTAG others(5368): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0280 a0001c0001t0007g0281 |
2 | 284 | 0.0070 | -5375 | c.699 others(19): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KRTAP2-1_chr17_41041541_41052316 | 41046943 | AGCAGGGG others(5366): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02630.hp2 HG04204.hp2 |
a0000 | a0000c0006 | a0000c0006t0010a0000c0006t0016 | a0000c0006t0010g0000 a0000c0006t0016g0000 |
3 | 407 | 0.0074 | -5373 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 373/776 | 1/387 | 1/128 | chr17 | TogoVar | |||
ELAPOR2_chr7_86871906_87064654 | 87005268 | GGCACATA others(5364): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 196 | 0.0051 | -5371 | c.190 others(19): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1371109 | TGGATCTC others(5355): Show |
T | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 115 | 0.0087 | -5362 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MRGPRG_chr11_3212944_3223813 | 3217508 | CCCACCTA others(5341): Show |
C | transcript_ablation | HIGH | HG00735.hp2 HG00741.hp1 HG01109.hp1 others(6): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 9 | 426 | 0.0211 | -5348 | c.-40 others(10): Show |
p.0? | MRGPRG | ENSG00000182170.3 | transcript | ENST00000332314.3 | protein_coding | 1/1 | chr11 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771511 | TCCTCCTC others(5341): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 160 | 0.0063 | -5348 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | CGCAGGGG others(5336): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01256.hp1 HG01258.hp1 |
a0000 | a0000c0010 | a0000c0010t0006 | a0000c0010t0006g0000 | 2 | 411 | 0.0049 | -5343 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 1/372 | 1/123 | chr17 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56771516 | CTCCTCCT others(5335): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 160 | 0.0063 | -5342 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771517 | TCCTCCTC others(5335): Show |
T | intron_variant | MODIFIER | NA18939.hp1 NA18950.hp1 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0056 a0001c0001t0002g0076 a0001c0001t0004g0083 |
3 | 160 | 0.0188 | -5342 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71115413 | GCACTAGC others(5334): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01243.hp2 others(24): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0002a0004c0004t0002 | a0001c0001t0002g0005 a0001c0001t0002g0230 a0001c0001t0002g0231 others(11): Show |
27 | 418 | 0.0646 | -5341 | c.378 others(17): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771520 | TCCTCCTC others(5332): Show |
T | intron_variant | MODIFIER | NA18971.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052 a0001c0001t0002g0106 |
2 | 160 | 0.0125 | -5339 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
TBL1X_chrX_9460058_9724740 | 9585810 | TATGTCCA others(5331): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0081 | 1 | 199 | 0.0050 | -5338 | c.-13 others(21): Show |
TBL1X | ENSG00000101849.18 | transcript | ENST00000645353.2 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
KRTAP9-6_chr17_41260378_41270860 | 41265523 | AGCCTTAC others(5330): Show |
A | frameshift_variant others(2): Show |
HIGH | NA19063.hp2 | a0000 | a0000c0007 | a0000c0007t0000 | a0000c0007t0000g0000 | 1 | 248 | 0.0040 | -5337 | c.147 others(9): Show |
p.Gln others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 147/483 | 147/483 | 49/160 | chr17 | TogoVar | |||
KRT33A_chr17_41341092_41355828 | 41350492 | TGACCGCT others(5329): Show |
T | start_lost others(1): Show |
HIGH | HG02145.hp1 HG02258.hp1 HG02280.hp2 others(7): Show |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0006 | 10 | 449 | 0.0223 | -5336 | c.-50 others(9): Show |
p.Met others(10): Show |
KRT33A | ENSG00000006059.4 | transcript | ENST00000007735.4 | protein_coding | 1/7 | 336/1303 | 1/1215 | 1/404 | chr17 | TogoVar | |||
NBDY_chrX_56724243_56824179 | 56771526 | TCCTTTTC others(5326): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0010 | 1 | 160 | 0.0063 | -5333 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771537 | TTCTTCTT others(5320): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 160 | 0.0063 | -5327 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
UGT2A1_chr4_69583417_69658247 | 69601758 | CTAGAGGA others(5319): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp2 others(96): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(90): Show |
99 | 376 | 0.2633 | -5326 | c.848 others(17): Show |
UGT2A1 | ENSG00000173610.13 | transcript | ENST00000286604.9 | protein_coding | 3/6 | chr4 | TogoVar | |||||||
UGT2A2_chr4_69583417_69644642 | 69601758 | CTAGAGGA others(5319): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00609.hp2 others(98): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0014 others(81): Show |
101 | 378 | 0.2672 | -5326 | c.743 others(17): Show |
UGT2A2 | ENSG00000271271.6 | transcript | ENST00000604629.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
LY96_chr8_73986392_74034079 | 73986612 | GCTGGACT others(5317): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG02615.hp1 HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0004 a0004c0003t0003g0005 a0004c0003t0003g0006 |
3 | 314 | 0.0096 | -5324 | c.-48 others(13): Show |
LY96 | ENSG00000154589.7 | transcript | ENST00000284818.7 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56771538 | TCTTCTTT others(5314): Show |
T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 160 | 0.0063 | -5321 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771541 | TCTTTTTC others(5311): Show |
T | intron_variant | MODIFIER | HG01256.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 a0001c0001t0002g0107 |
2 | 160 | 0.0125 | -5318 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56771539 | CTTCTTTT others(5308): Show |
C | intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 160 | 0.0063 | -5315 | c.*16 others(21): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
WWOX_chr16_78094654_79217667 | 78243714 | GTTTTGTA others(5305): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0077 | 1 | 142 | 0.0070 | -5312 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
OR13C5_chr9_104593457_104604413 | 104599104 | TGAGGAAC others(5302): Show |
T | start_lost others(1): Show |
HIGH | NA18968.hp1 NA18981.hp2 NA18991.hp1 |
a0012 | a0012c0010 | a0012c0010t0000 | a0012c0010t0000g0000 | 3 | 424 | 0.0071 | -5309 | c.-50 others(9): Show |
p.Met others(11): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 309/957 | 1/957 | 1/318 | chr9 | TogoVar | |||
KYNU_chr2_142872664_143060833 | 142937688 | AGCCCAGC others(5299): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 332 | 0.0030 | -5306 | c.373 others(18): Show |
KYNU | ENSG00000115919.15 | transcript | ENST00000264170.9 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
NRG3_chr10_81870194_82992178 | 82952492 | TGTGTGTG others(5299): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0002 | 1 | 66 | 0.0152 | -5306 | c.115 others(18): Show |
NRG3 | ENSG00000185737.13 | transcript | ENST00000372141.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2276991 | AAGAGAGA others(5298): Show |
A | intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0042 | 1 | 50 | 0.0200 | -5305 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277038 | GGGAGAGA others(5298): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0008 | a0008c0010 | a0008c0010t0014 | a0008c0010t0014g0046 | 1 | 50 | 0.0200 | -5305 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
COPG2_chr7_130501238_130673748 | 130582248 | AGGATTCC others(5289): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 326 | 0.0031 | -5296 | c.738 others(19): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 9/23 | chr7 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2624047 | GTTCCTGT others(5286): Show |
G | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 208 | 0.0048 | -5293 | c.139 others(21): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | chr11 | TogoVar | |||||||
RABGAP1L_chr1_174154520_175000308 | 174827418 | ACTGGAGG others(5281): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(46): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0007c0009others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0018others(6): Show | a0001c0001t0004g0038 a0001c0001t0004g0223 a0001c0001t0004g0224 others(46): Show |
49 | 272 | 0.1802 | -5288 | c.234 others(21): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZSWIM5_chr1_45011399_45211605 | 45152425 | AATATGAT others(5276): Show |
A | intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0037 | 1 | 234 | 0.0043 | -5283 | c.595 others(19): Show |
ZSWIM5 | ENSG00000162415.7 | transcript | ENST00000359600.6 | protein_coding | 1/13 | chr1 | TogoVar |