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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF665_chr19_53157424_53198358 | 53185354 | TTCGCACT others(4580): Show |
T | intron_variant | MODIFIER | HG02683.hp1 HG03654.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0035 a0009c0008t0001g0036 |
2 | 406 | 0.0049 | -4587 | c.-46 others(17): Show |
ZNF665 | ENSG00000197497.11 | transcript | ENST00000396424.5 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75054235 | TAGCCAAA others(4574): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03942.hp2 NA18953.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0070 |
6 | 320 | 0.0188 | -4581 | c.84+ others(14): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
CCDC148_chr2_158166073_158461753 | 158424602 | AATATACC others(4562): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 262 | 0.0038 | -4569 | c.25+ others(17): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81710703 | TTTCATAT others(4553): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01496.hp2 HG01981.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0155 a0001c0001t0002g0161 a0001c0001t0004g0034 others(8): Show |
11 | 168 | 0.0655 | -4560 | c.250 others(19): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 3/32 | chr12 | TogoVar | |||||||
LEXM_chr1_54801063_54847252 | 54835322 | GCTGGGAC others(4551): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0249 a0004c0008t0001g0250 |
2 | 380 | 0.0053 | -4558 | c.118 others(19): Show |
LEXM | ENSG00000162398.12 | transcript | ENST00000371273.4 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TMEM266_chr15_76054985_76209963 | 76073911 | ATGAGGCC others(4548): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0135 |
2 | 272 | 0.0074 | -4555 | c.-12 others(21): Show |
TMEM266 | ENSG00000169758.13 | transcript | ENST00000388942.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
TXLNB_chr6_139235061_139296998 | 139281461 | CTCTTATC others(4543): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0025others(6): Show | a0001c0001t0001a0001c0001t0023a0002c0002t0001others(13): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(59): Show |
70 | 292 | 0.2397 | -4550 | c.424 others(17): Show |
TXLNB | ENSG00000164440.15 | transcript | ENST00000358430.8 | protein_coding | 2/9 | chr6 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1235589 | CCCCTCTG others(4529): Show |
C | intron_variant | MODIFIER | NA19043.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0025a0001c0003t0045 | a0001c0001t0025g0036 a0001c0003t0045g0057 |
2 | 104 | 0.0192 | -4536 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ZNF317_chr19_9135397_9168413 | 9163878 | AGAGATGG others(4528): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01257.hp1 HG01258.hp2 others(27): Show |
a0001 | a0001c0001a0001c0008a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0008t0005others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0034 others(17): Show |
30 | 392 | 0.0765 | -4535 | c.*24 others(11): Show |
ZNF317 | ENSG00000130803.15 | transcript | ENST00000247956.11 | protein_coding | 466 | chr19 | TogoVar | |||||||
HSPA1L_chr6_31804619_31820283 | 31815750 | AACCGGCA others(4526): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp2 NA18985.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0002c0002t0001g0001 |
2 | 426 | 0.0047 | -4533 | c.-54 others(10): Show |
HSPA1L | ENSG00000204390.10 | transcript | ENST00000375654.5 | protein_coding | 468 | chr6 | TogoVar | |||||||
TMEM51_chr1_15148747_15225478 | 15160438 | CAATTTTT others(4522): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0292 a0001c0001t0034g0293 |
2 | 296 | 0.0068 | -4529 | c.-26 others(20): Show |
TMEM51 | ENSG00000171729.14 | transcript | ENST00000376008.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STARD8_chrX_68642666_68730836 | 68678780 | TGCAATAA others(4516): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 197 | 0.0051 | -4523 | c.79+ others(17): Show |
STARD8 | ENSG00000130052.14 | transcript | ENST00000374599.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54286077 | CACCTAAC others(4510): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG03098.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0001 | a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0227 others(3): Show |
6 | 270 | 0.0222 | -4517 | c.405 others(19): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNF454_chr5_178936198_178971433 | 178959780 | TATTTTTA others(4508): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(32): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0006 | a0001c0001t0001g0048 a0001c0001t0001g0191 a0001c0003t0001g0009 others(19): Show |
35 | 404 | 0.0866 | -4515 | c.251 others(16): Show |
ZNF454 | ENSG00000178187.8 | transcript | ENST00000519564.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF454_chr5_178936198_178971433 | 178959853 | CCTCGGCC others(4507): Show |
C | intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0064 | 1 | 404 | 0.0025 | -4514 | c.251 others(16): Show |
ZNF454 | ENSG00000178187.8 | transcript | ENST00000519564.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MRC1_chr10_17804348_17916164 | 17828147 | ACTCACTG others(4504): Show |
A | intron_variant | MODIFIER | HG01975.hp1 HG02258.hp1 HG02280.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0017others(2): Show | a0001c0003t0001a0001c0006t0001a0001c0017t0001others(2): Show | a0001c0003t0001g0006 a0001c0006t0001g0216 a0001c0006t0001g0217 others(4): Show |
8 | 362 | 0.0221 | -4511 | c.637 others(15): Show |
MRC1 | ENSG00000260314.3 | transcript | ENST00000569591.3 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15576040 | TTTTTTTT others(4502): Show |
T | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 290 | 0.0034 | -4509 | c.305 others(16): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3GAP2_chr1_220143293_220277453 | 220263034 | CACTCTGA others(4501): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18955.hp1 NA18980.hp1 others(5): Show |
a0001a0012 | a0001c0001a0012c0008 | a0001c0001t0001a0001c0001t0003a0012c0008t0001 | a0001c0001t0001g0067 a0001c0001t0001g0227 a0001c0001t0003g0226 others(5): Show |
8 | 376 | 0.0213 | -4508 | c.115 others(17): Show |
RAB3GAP2 | ENSG00000118873.17 | transcript | ENST00000358951.7 | protein_coding | 1/34 | chr1 | TogoVar | |||||||
IQCM_chr4_149346709_149820843 | 149677571 | TAAAATAA others(4490): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 250 | 0.0040 | -4497 | c.565 others(15): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | |||||||
C2orf74_chr2_61157188_61169828 | 61163476 | CGCCTGTA others(4484): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG03195.hp1 | a0007 | a0007c0004 | a0007c0004t0003 | a0007c0004t0003g0006 | 1 | 420 | 0.0024 | -4491 | c.390 others(13): Show |
C2orf74 | ENSG00000237651.8 | transcript | ENST00000432605.3 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33359627 | GATCTTGG others(4484): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02148.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0050 a0001c0001t0005g0024 a0001c0001t0006g0065 others(4): Show |
7 | 108 | 0.0648 | -4491 | c.113 others(21): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
LARGE1_chr22_33267509_33925476 | 33359577 | TTTTTGAG others(4475): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0073 | 1 | 108 | 0.0093 | -4482 | c.113 others(21): Show |
LARGE1 | ENSG00000133424.22 | transcript | ENST00000397394.8 | protein_coding | 9/14 | chr22 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199314357 | AGAGAAGC others(4467): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0020 |
2 | 252 | 0.0079 | -4474 | c.154 others(19): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ITGA8_chr10_15508954_15724922 | 15627796 | TGGGTAAA others(4464): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03453.hp1 HG03579.hp1 others(1): Show |
a0001a0014 | a0001c0001a0014c0026 | a0001c0001t0002a0014c0026t0009 | a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 others(1): Show |
4 | 218 | 0.0183 | -4471 | c.139 others(21): Show |
ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 13/29 | chr10 | TogoVar | |||||||
COL11A1_chr1_102871473_103113522 | 103022374 | CCCAGGCA others(4463): Show |
C | exon_loss_variant | HIGH | NA19043.hp2 | a0017 | a0017c0028 | a0017c0028t0004 | a0017c0028t0004g0043 | 1 | 182 | 0.0055 | -4470 | c.781 others(16): Show |
COL11A1 | ENSG00000060718.22 | transcript | ENST00000370096.9 | protein_coding | 8/67 | chr1 | TogoVar | |||||||
GRIK2_chr6_101388708_102075083 | 101486683 | ATCAATAA others(4460): Show |
A | intron_variant | MODIFIER | HG01952.hp1 HG02559.hp1 HG02559.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0082 a0001c0001t0002g0014 a0001c0001t0002g0090 others(9): Show |
12 | 116 | 0.1034 | -4467 | c.115 others(19): Show |
GRIK2 | ENSG00000164418.22 | transcript | ENST00000369134.9 | protein_coding | 2/16 | chr6 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32734721 | GTGCCTCT others(4460): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0145 | 1 | 184 | 0.0054 | -4467 | c.711 others(21): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
PDE6D_chr2_231727433_231786282 | 231752918 | TCGCCTCC others(4457): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 264 | 0.0038 | -4464 | c.51- others(17): Show |
PDE6D | ENSG00000156973.14 | transcript | ENST00000287600.9 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
FBXL13_chr7_102806189_103079796 | 102957489 | ACTAAAAC others(4444): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0130 a0001c0002t0003g0132 |
2 | 326 | 0.0061 | -4451 | c.994 others(17): Show |
FBXL13 | ENSG00000161040.19 | transcript | ENST00000440067.4 | protein_coding | 9/20 | chr7 | TogoVar | |||||||
TMLHE_chrX_155484011_155617952 | 155548459 | GGCACGGT others(4439): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015 | a0001c0001t0009g0039 a0001c0001t0009g0040 a0001c0001t0009g0041 others(2): Show |
5 | 214 | 0.0234 | -4446 | c.-1- others(15): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
MTUS2_chr13_28815339_29510947 | 28904815 | ATGGCATT others(4429): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03540.hp2 NA19240.hp1 |
a0001a0005a0007 | a0001c0001a0005c0006a0007c0004 | a0001c0001t0009a0005c0006t0005a0007c0004t0001 | a0001c0001t0009g0088 a0005c0006t0005g0090 a0007c0004t0001g0089 |
3 | 90 | 0.0333 | -4436 | c.-24 others(21): Show |
MTUS2 | ENSG00000132938.22 | transcript | ENST00000612955.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FAM53C_chr5_138333266_138354729 | 138339945 | GGAAGAGC others(4427): Show |
G | exon_loss_variant | HIGH | HG01981.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0035 | 1 | 430 | 0.0023 | -4434 | c.-15 others(17): Show |
FAM53C | ENSG00000120709.11 | transcript | ENST00000239906.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LSG1_chr3_194635791_194677191 | 194672759 | TTCCAGAG others(4425): Show |
T | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0347 | 1 | 406 | 0.0025 | -4432 | c.-50 others(10): Show |
LSG1 | ENSG00000041802.11 | transcript | ENST00000265245.10 | protein_coding | 569 | chr3 | TogoVar | |||||||
UBAP1_chr9_34174043_34257523 | 34183830 | GCGCCATC others(4420): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 340 | 0.0029 | -4427 | c.-8+ others(15): Show |
UBAP1 | ENSG00000165006.14 | transcript | ENST00000297661.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COPG2_chr7_130501238_130673748 | 130537771 | AAAAGGGG others(4419): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 324 | 0.0031 | -4426 | c.214 others(19): Show |
COPG2 | ENSG00000158623.14 | transcript | ENST00000425248.5 | protein_coding | 20/23 | chr7 | TogoVar | |||||||
DDAH1_chr1_85313485_85470159 | 85445302 | AGGAGGAG others(4410): Show |
A | intron_variant | MODIFIER | NA18959.hp1 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0337 a0001c0001t0020g0338 |
2 | 414 | 0.0048 | -4417 | c.303 others(19): Show |
DDAH1 | ENSG00000153904.21 | transcript | ENST00000284031.13 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2277749 | AGAGGGAG others(4408): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0040 | 1 | 44 | 0.0227 | -4415 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
C1orf202_chr1_244724701_244736015 | 244731614 | TCGTGCTT others(4394): Show |
T | upstream_gene_variant | MODIFIER | NA18949.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0000 a0001c0001t0007g0000 |
2 | 416 | 0.0048 | -4401 | c.-50 others(10): Show |
C1orf202 | ENSG00000284188.3 | transcript | ENST00000640271.3 | protein_coding | 600 | chr1 | TogoVar | |||||||
A2ML1_chr12_8817621_8881787 | 8857432 | TCCCATAT others(4391): Show |
T | exon_loss_variant | HIGH | HG02572.hp1 | a0027 | a0027c0040 | a0027c0040t0005 | a0027c0040t0005g0216 | 1 | 366 | 0.0027 | -4398 | c.302 others(16): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GPR157_chr1_9095305_9134102 | 9111975 | AAGAAAAA others(4384): Show |
A | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0114 | 1 | 402 | 0.0025 | -4391 | c.384 others(16): Show |
GPR157 | ENSG00000180758.12 | transcript | ENST00000377411.5 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
OR5M10_chr11_56571774_56582721 | 56578333 | TGAAACCC others(4381): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 436 | 0.0023 | -4388 | c.-50 others(10): Show |
OR5M10 | ENSG00000254834.5 | transcript | ENST00000526538.2 | protein_coding | 613 | chr11 | TogoVar | |||||||
STK3_chr8_98449633_98830688 | 98751549 | GGAGGTGA others(4381): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 168 | 0.0060 | -4388 | c.237 others(17): Show |
STK3 | ENSG00000104375.17 | transcript | ENST00000419617.7 | protein_coding | 3/10 | chr8 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45652689 | CGCCTCGG others(4371): Show |
C | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 290 | 0.0034 | -4378 | c.-27 others(20): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ANKRD36_chr2_97108153_97269521 | 97152093 | AGTGATTC others(4367): Show |
A | exon_loss_variant | HIGH | HG01070.hp2 HG01361.hp2 HG03654.hp1 others(1): Show |
a0002a0027 | a0002c0002a0027c0023 | a0002c0002t0001a0027c0023t0001 | a0002c0002t0001g0141 a0002c0002t0001g0161 a0002c0002t0001g0162 others(1): Show |
4 | 210 | 0.0190 | -4374 | c.116 others(18): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146095500 | GGTTGAAA others(4365): Show |
G | exon_loss_variant | HIGH | HG00597.hp1 | a0037 | a0037c0086 | a0037c0086t0002 | a0037c0086t0002g0121 | 1 | 282 | 0.0035 | -4372 | c.596 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 53/90 | chr1 | TogoVar | |||||||
RIPOR3_chr20_50581108_50696542 | 50663978 | GTGCAATG others(4364): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 278 | 0.0036 | -4371 | c.3+2 others(15): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 1/21 | chr20 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146104940 | GGTTGAAA others(4361): Show |
G | exon_loss_variant | HIGH | HG01934.hp1 | a0053 | a0053c0062 | a0053c0062t0002 | a0053c0062t0002g0090 | 1 | 278 | 0.0036 | -4368 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146104940 | GGTTGAAA others(4357): Show |
G | exon_loss_variant | HIGH | HG02293.hp1 HG03491.hp2 HG03492.hp1 others(1): Show |
a0016a0063 | a0016c0013a0063c0088 | a0016c0013t0002a0063c0088t0002 | a0016c0013t0002g0009 a0016c0013t0002g0116 a0063c0088t0002g0123 |
4 | 281 | 0.0142 | -4364 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
LRRC31_chr3_169834172_169874935 | 169869027 | TGCTCTTT others(4356): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG02602.hp1 HG02738.hp2 HG03927.hp2 |
a0006 | a0006c0010a0006c0016 | a0006c0010t0002a0006c0016t0002 | a0006c0010t0002g0032 a0006c0010t0002g0034 a0006c0016t0002g0033 |
3 | 320 | 0.0094 | -4363 | c.-35 others(13): Show |
LRRC31 | ENSG00000114248.10 | transcript | ENST00000316428.10 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
RHNO1_chr12_2872223_2894524 | 2878302 | GATCTGAT others(4349): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 424 | 0.0024 | -4356 | c.-85 others(17): Show |
RHNO1 | ENSG00000171792.11 | transcript | ENST00000489288.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |