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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF19_chr1_149470045_149561361 | 149500408 | CTCTGTGT others(9523): Show |
C | exon_loss_variant | HIGH | HG02896.hp2 | a0088 | a0088c0105 | a0088c0105t0008 | a0088c0105t0008g0100 | 1 | 276 | 0.0036 | -9530 | c.295 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 26/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR3A2_chr17_3271177_3391308 | 3354159 | TCTGTGTC others(9522): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03195.hp1 others(1): Show |
a0005 | a0005c0006 | a0005c0006t0011 | a0005c0006t0011g0096a0005c0006t0011g0097a0005c0006t0011g0098others(1): Show | 4 | 318 | 0.0126 | -9529 | c.-37 others(21): Show |
OR3A2 | ENSG00000221882.5 | transcript | ENST00000573901.3 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149508424 | CTCTACCT others(9508): Show |
C | exon_loss_variant | HIGH | HG03195.hp2 NA18906.hp2 |
a0030 | a0030c0034 | a0030c0034t0001 | a0030c0034t0001g0092a0030c0034t0001g0093 | 2 | 276 | 0.0073 | -9515 | c.426 others(9): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/94 | 5051/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
DAZ3_chrY_24758069_24818393 | 24782239 | TAGATGTT others(9506): Show |
T | exon_loss_variant | HIGH | NA19063.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0042 | 1 | 45 | 0.0222 | -9513 | c.859 others(17): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24785607 | CAAAAAAA others(9504): Show |
C | exon_loss_variant | HIGH | NA19089.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0024 | 1 | 45 | 0.0222 | -9511 | c.786 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 14/19 | chrY | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149490900 | GTGTGTGT others(9503): Show |
G | exon_loss_variant | HIGH | HG02258.hp1 | a0062 | a0062c0093 | a0062c0093t0001 | a0062c0093t0001g0267 | 1 | 276 | 0.0036 | -9510 | c.149 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 14/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR52E8_chr11_5851749_5862690 | 5852754 | ATTTTCTT others(9502): Show |
A | transcript_ablation | HIGH | HG00639.hp2 HG02257.hp1 HG02486.hp2 others(9): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 12 | 436 | 0.0275 | -9509 | c.-45 others(11): Show |
p.0? | OR52E8 | ENSG00000183269.6 | transcript | ENST00000537935.2 | protein_coding | 1/1 | chr11 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149537774 | ACCAGAAT others(9483): Show |
A | exon_loss_variant | HIGH | NA18998.hp1 | a0185 | a0185c0043 | a0185c0043t0002 | a0185c0043t0002g0247 | 1 | 276 | 0.0036 | -9490 | c.881 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149538290 | GCACATTT others(9483): Show |
G | exon_loss_variant | HIGH | NA19043.hp2 | a0177 | a0177c0075 | a0177c0075t0001 | a0177c0075t0001g0146 | 1 | 276 | 0.0036 | -9490 | c.881 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149533842 | CTATGCTA others(9481): Show |
C | exon_loss_variant | HIGH | HG01123.hp1 | a0108 | a0108c0143 | a0108c0143t0001 | a0108c0143t0001g0027 | 1 | 276 | 0.0036 | -9488 | c.825 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 69/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149534502 | TAGAAATC others(9481): Show |
T | exon_loss_variant | HIGH | HG01257.hp2 | a0150 | a0150c0160 | a0150c0160t0001 | a0150c0160t0001g0107 | 1 | 276 | 0.0036 | -9488 | c.836 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 70/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149519461 | GTGTGTGT others(9477): Show |
G | exon_loss_variant | HIGH | NA18612.hp2 | a0187 | a0187c0050 | a0187c0050t0002 | a0187c0050t0002g0250 | 1 | 276 | 0.0036 | -9484 | c.588 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 50/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149536375 | TTAGACAG others(9477): Show |
T | exon_loss_variant | HIGH | HG01074.hp2 HG03831.hp2 HG04204.hp2 |
a0020a0067 | a0020c0020a0067c0095 | a0020c0020t0001a0020c0020t0010a0067c0095t0001 | a0020c0020t0001g0041a0020c0020t0010g0043a0067c0095t0001g0042 | 3 | 276 | 0.0109 | -9484 | c.858 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 72/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149538593 | CTATGCTA others(9467): Show |
C | exon_loss_variant | HIGH | HG00438.hp1 HG00558.hp1 NA18980.hp1 others(2): Show |
a0012a0140a0141 | a0012c0009a0140c0175a0141c0182 | a0012c0009t0001a0140c0175t0001a0141c0182t0001 | a0012c0009t0001g0050a0012c0009t0001g0172a0012c0009t0001g0195others(2): Show | 5 | 276 | 0.0181 | -9474 | c.898 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 75/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149539999 | CAGTGTCC others(9467): Show |
C | exon_loss_variant | HIGH | HG01934.hp2 HG03239.hp2 HG04199.hp2 |
a0016a0047 | a0016c0017a0047c0216 | a0016c0017t0001a0047c0216t0001 | a0016c0017t0001g0028a0016c0017t0001g0029a0047c0216t0001g0068 | 3 | 276 | 0.0109 | -9474 | c.971 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 81/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146073114 | GGAGGAGA others(9459): Show |
G | exon_loss_variant | HIGH | HG00639.hp1 | a0192 | a0192c0211 | a0192c0211t0004 | a0192c0211t0004g0226 | 1 | 283 | 0.0035 | -9466 | c.866 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 81/90 | chr1 | TogoVar | ||||||
EPHA6_chr3_96809594_97766532 | 97315012 | CTTCTGGT others(9452): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp2 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0011 | a0001c0003t0004g0004a0001c0003t0011g0002 | 2 | 82 | 0.0244 | -9459 | c.160 others(21): Show |
EPHA6 | ENSG00000080224.18 | transcript | ENST00000389672.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146078537 | CAAATGGT others(9450): Show |
C | exon_loss_variant | HIGH | HG00544.hp2 HG00621.hp2 NA19003.hp1 |
a0186a0198a0200 | a0186c0205a0198c0201a0200c0215 | a0186c0205t0004a0198c0201t0004a0200c0215t0004 | a0186c0205t0004g0236a0198c0201t0004g0235a0200c0215t0004g0233 | 3 | 283 | 0.0106 | -9457 | c.788 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | ||||||
PRORP_chr14_35117552_35282622 | 35136408 | GTTGTTGC others(9447): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp2 others(68): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0005a0001c0002t0001g0181a0001c0002t0001g0191others(68): Show | 71 | 314 | 0.2261 | -9454 | c.116 others(20): Show |
PRORP | ENSG00000100890.16 | transcript | ENST00000534898.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
NBPF10_chr1_146059711_146149804 | 146085748 | CACACACA others(9442): Show |
C | exon_loss_variant | HIGH | HG00639.hp2 | a0162 | a0162c0164 | a0162c0164t0003 | a0162c0164t0003g0170 | 1 | 283 | 0.0035 | -9449 | c.669 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 65/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146083426 | GACAAGAT others(9438): Show |
G | exon_loss_variant | HIGH | HG00438.hp1 HG01496.hp1 NA18941.hp1 others(7): Show |
a0001a0196a0203 | a0001c0001a0196c0214a0203c0219 | a0001c0001t0004a0196c0214t0004a0203c0219t0004 | a0001c0001t0004g0247a0001c0001t0004g0252a0001c0001t0004g0253others(7): Show | 10 | 283 | 0.0353 | -9445 | c.715 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 68/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146110799 | GTTAATGA others(9437): Show |
G | exon_loss_variant | HIGH | NA18941.hp2 | a0176 | a0176c0198 | a0176c0198t0004 | a0176c0198t0004g0245 | 1 | 283 | 0.0035 | -9444 | c.281 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 33/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146085754 | CACACACA others(9434): Show |
C | exon_loss_variant | HIGH | NA20905.hp2 | a0158 | a0158c0176 | a0158c0176t0003 | a0158c0176t0003g0179 | 1 | 283 | 0.0035 | -9441 | c.669 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 65/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146104593 | GACACACA others(9429): Show |
G | exon_loss_variant | HIGH | HG01884.hp2 | a0178 | a0178c0195 | a0178c0195t0004 | a0178c0195t0004g0257 | 1 | 283 | 0.0035 | -9436 | c.376 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146102777 | ATCCAGCA others(9421): Show |
A | exon_loss_variant | HIGH | NA18747.hp1 | a0179 | a0179c0196 | a0179c0196t0004 | a0179c0196t0004g0232 | 1 | 283 | 0.0035 | -9428 | c.407 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 43/90 | 5569/13030 | chr1 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 162075342 | CATCATCA others(9418): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0001 | a0001c0003t0003g0027a0001c0004t0001g0006 | 2 | 32 | 0.0625 | -9425 | c.535 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172286970 | CTGCCCTC others(9414): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 40 | 0.0250 | -9421 | c.248 others(19): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PPP1R16B_chr20_38800697_38928024 | 38858154 | TAAAACTA others(9392): Show |
T | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0213 | 1 | 244 | 0.0041 | -9399 | c.250 others(19): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
DNAJC11_chr1_6629170_6706816 | 6684362 | GTGAGCCA others(9293): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 366 | 0.0027 | -9300 | c.72+ others(15): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12360890 | CTGTAGGT others(9281): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 294 | 0.0034 | -9288 | c.-8- others(16): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129416685 | CTGAGTTT others(9278): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0024 | a0024c0021 | a0024c0021t0005 | a0024c0021t0005g0014 | 1 | 88 | 0.0114 | -9285 | c.586 others(20): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 40/64 | chr6 | TogoVar | ||||||
TUBA3C_chr13_19168772_19186824 | 19177560 | AAAACTGT others(9257): Show |
A | exon_loss_variant | HIGH | HG03942.hp2 | a0005 | a0005c0017 | a0005c0017t0005 | a0005c0017t0005g0232 | 1 | 448 | 0.0022 | -9264 | c.-50 others(9): Show |
TUBA3C | ENSG00000198033.13 | transcript | ENST00000400113.8 | protein_coding | 3/5 | 499/1521 | chr13 | TogoVar | |||||
TEX9_chr15_56360426_56435154 | 56413410 | AACACATA others(9249): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035a0001c0001t0007g0322a0001c0001t0007g0323others(1): Show | 5 | 380 | 0.0132 | -9256 | c.963 others(17): Show |
TEX9 | ENSG00000151575.15 | transcript | ENST00000696102.1 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PRR20D_chr13_57155632_57168653 | 57159446 | CCCCCCCC others(9200): Show |
C | transcript_ablation | HIGH | NA19010.hp1 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 146 | 0.0069 | -9207 | c.-14 others(11): Show |
p.0? | PRR20D | ENSG00000227151.4 | transcript | ENST00000452123.3 | protein_coding | 2/3 | chr13 | TogoVar | |||||
GPC5_chr13_91393621_92872237 | 92810152 | CCCTATAC others(9194): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp2 HG03453.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0012a0001c0004t0001g0024a0002c0002t0001g0008others(1): Show | 4 | 42 | 0.0952 | -9201 | c.156 others(21): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
IQCM_chr4_149346709_149820843 | 149661981 | TTTTAGGT others(9179): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0113 | 1 | 252 | 0.0040 | -9186 | c.565 others(19): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 7/13 | chr4 | TogoVar | ||||||
KIF1B_chr1_10205570_10386603 | 10309423 | TGGCCACA others(9178): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017a0001c0001t0052 | a0001c0001t0016g0130a0001c0001t0016g0133a0001c0001t0016g0134others(4): Show | 7 | 300 | 0.0233 | -9185 | c.211 others(20): Show |
KIF1B | ENSG00000054523.20 | transcript | ENST00000676179.1 | protein_coding | 22/48 | chr1 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156657700 | TGCAGTTG others(9178): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0011 | 1 | 150 | 0.0067 | -9185 | c.575 others(19): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
MSRA_chr8_10049292_10433891 | 10252355 | AGATGTGA others(9165): Show |
A | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 286 | 0.0035 | -9172 | c.331 others(18): Show |
MSRA | ENSG00000175806.15 | transcript | ENST00000317173.9 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69541120 | CCAAACTG others(9093): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0078others(1): Show | a0001c0001t0001g0060a0001c0001t0001g0067a0001c0001t0005g0133others(2): Show | 5 | 170 | 0.0294 | -9100 | c.67- others(17): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 1/7 | chr18 | TogoVar | ||||||
USP14_chr18_153557_219629 | 168526 | CTGGGTTC others(9055): Show |
C | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 380 | 0.0026 | -9062 | c.195 others(17): Show |
USP14 | ENSG00000101557.15 | transcript | ENST00000261601.8 | protein_coding | 3/15 | chr18 | TogoVar | ||||||
ARSB_chr5_78772209_78990310 | 78862424 | CCAATGGA others(9044): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0317 | 1 | 360 | 0.0028 | -9051 | c.114 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 5/7 | chr5 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 681605 | GTTTAAAT others(9044): Show |
G | exon_loss_variant | HIGH | NA18967.hp2 NA19083.hp2 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0190a0005c0009t0001g0286 | 2 | 418 | 0.0048 | -9051 | c.536 others(15): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 11/16 | chr18 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22272095 | GTTAATAG others(9025): Show |
G | exon_loss_variant | HIGH | NA18939.hp2 | a0000 | a0000c0018 | a0000c0018t0053 | a0000c0018t0053g0097 | 1 | 364 | 0.0028 | -9032 | c.203 others(14): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RFPL4A_chr19_55754097_55768421 | 55759400 | GAGAATTT others(9014): Show |
G | exon_loss_variant | HIGH | NA18747.hp2 NA18983.hp1 |
a0000 | a0000c0000 | a0000c0000t0009 | a0000c0000t0009g0027 | 2 | 462 | 0.0043 | -9021 | c.-10 others(13): Show |
RFPL4A | ENSG00000223638.4 | transcript | ENST00000434937.3 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155047275 | CTCAAGCG others(8986): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0010 | a0010c0054 | a0010c0054t0005 | a0010c0054t0005g0202 | 1 | 230 | 0.0044 | -8993 | c.-20 others(21): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
NLGN1_chr3_173392744_174299372 | 173491002 | GATGGGGT others(8950): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0027 | a0001c0001t0003g0026a0001c0007t0027g0020 | 2 | 44 | 0.0455 | -8957 | c.-32 others(22): Show |
NLGN1 | ENSG00000169760.18 | transcript | ENST00000695368.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SMIM36_chr17_55444856_55516452 | 55491783 | TAAAGGTG others(8942): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 340 | 0.0029 | -8949 | c.*17 others(21): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29581978 | GTAGTTAG others(8938): Show |
G | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 135 | 0.0074 | -8945 | c.704 others(19): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ACSL1_chr4_184750595_184830968 | 184811363 | TGGCCTCC others(8898): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0201 | 1 | 392 | 0.0026 | -8905 | c.-33 others(17): Show |
ACSL1 | ENSG00000151726.16 | transcript | ENST00000281455.7 | protein_coding | 1/20 | chr4 | TogoVar |