| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GPC5_chr13_91393621_92872237 | 92356984 | TGCATTAG others(9664): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0037 |
2 | 42 | 0.0476 | -9671 | c.156 others(23): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| PCDHGA10_chr5_141407987_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | exon_loss_variant others(1): Show |
HIGH | NA19082.hp1 | a0014 | a0014c0022 | a0014c0022t0018 | a0014c0022t0018g0001 | 1 | 306 | 0.0033 | -9657 | c.-47 others(15): Show |
PCDHGA10 | ENSG00000253846.3 | transcript | ENST00000398610.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGA1_chr5_141325514_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 268 | 0.0037 | -9657 | c.242 others(21): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGA2_chr5_141333760_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0199 | 1 | 272 | 0.0037 | -9657 | c.242 others(21): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGA6_chr5_141368891_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 292 | 0.0034 | -9657 | c.242 others(21): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGA7_chr5_141377742_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0042 | 1 | 292 | 0.0034 | -9657 | c.242 others(21): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGA8_chr5_141387633_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0159 | 1 | 302 | 0.0033 | -9657 | c.242 others(21): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGB3_chr5_141365242_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 296 | 0.0034 | -9657 | c.241 others(21): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGB4_chr5_141382698_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0006 | a0006c0020 | a0006c0020t0003 | a0006c0020t0003g0096 | 1 | 294 | 0.0034 | -9657 | c.239 others(21): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGB5_chr5_141392947_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | intron_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0033 | 1 | 300 | 0.0033 | -9657 | c.239 others(20): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| PCDHGB6_chr5_141403021_141517975 | 141408395 | AAGCTGCG others(9650): Show |
A | splice_donor_variant others(3): Show |
HIGH | NA19082.hp2 | a0015 | a0015c0023 | a0015c0023t0003 | a0015c0023t0003g0001 | 1 | 302 | 0.0033 | -9657 | c.238 others(13): Show |
p.Glu others(12): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/4 | 420/4777 | 238/2793 | 80/930 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
| CPVL_chr7_28990235_29151537 | 29019647 | TGTGTGTC others(9590): Show |
T | intron_variant | MODIFIER | HG02129.hp2 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0207 | 1 | 282 | 0.0036 | -9597 | c.132 others(20): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
| EYA2_chr20_46889843_47193844 | 47150459 | GCGGCTTC others(9582): Show |
G | intron_variant | MODIFIER | HG02523.hp2 NA18990.hp2 NA18993.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0087 a0001c0001t0001g0117 a0001c0001t0001g0193 others(2): Show |
5 | 238 | 0.0210 | -9589 | c.978 others(17): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| SVEP1_chr9_110360248_110584741 | 110413516 | ATGTACCC others(9572): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG03139.hp1 |
a0004a0005 | a0004c0092a0005c0089 | a0004c0092t0001a0005c0089t0001 | a0004c0092t0001g0089 a0005c0089t0001g0088 |
2 | 362 | 0.0055 | -9579 | c.597 others(19): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 36/47 | chr9 | TogoVar | |||||||
| FMO5_chr1_147181261_147230339 | 147189008 | GCTCATGC others(9568): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02451.hp2 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0026 | 2 | 406 | 0.0049 | -9575 | c.118 others(19): Show |
FMO5 | ENSG00000131781.13 | transcript | ENST00000254090.9 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| TPSAB1_chr16_1235705_1247554 | 1237931 | AGCCCTGT others(9565): Show |
A | transcript_ablation | HIGH | NA18972.hp1 NA19081.hp2 NA21309.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 3 | 290 | 0.0103 | -9572 | c.-27 others(11): Show |
p.0? | TPSAB1 | ENSG00000172236.19 | transcript | ENST00000338844.8 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32050628 | TTATGTTC others(9563): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 126 | 0.0079 | -9570 | c.643 others(21): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 44/78 | chrX | TogoVar | |||||||
| TSC22D1_chr13_44427143_44581330 | 44515602 | TAATTTTG others(9557): Show |
T | intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 240 | 0.0042 | -9564 | c.291 others(21): Show |
TSC22D1 | ENSG00000102804.16 | transcript | ENST00000458659.3 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
| PPP1R9A_chr7_94902594_95301400 | 95082384 | CTGTGTAA others(9534): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0153 | 1 | 290 | 0.0035 | -9541 | c.139 others(21): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| 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 | a0005c0006t0011g0096 a0005c0006t0011g0097 a0005c0006t0011g0098 others(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 | a0030c0034t0001g0092 a0030c0034t0001g0093 |
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 | a0020c0020t0001g0041 a0020c0020t0010g0043 a0067c0095t0001g0042 |
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 | a0012c0009t0001g0050 a0012c0009t0001g0172 a0012c0009t0001g0195 others(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 | a0016c0017t0001g0028 a0016c0017t0001g0029 a0047c0216t0001g0068 |
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 | a0001c0003t0004g0004 a0001c0003t0011g0002 |
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 | a0186c0205t0004g0236 a0198c0201t0004g0235 a0200c0215t0004g0233 |
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 | a0001c0002t0001g0005 a0001c0002t0001g0181 a0001c0002t0001g0191 others(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 | a0001c0001t0004g0247 a0001c0001t0004g0252 a0001c0001t0004g0253 others(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 | a0001c0003t0003g0027 a0001c0004t0001g0006 |
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 |