| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SNTG2_chr2_945849_1372613 | 1344285 | GGCACTTT others(899): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02148.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0179a0001c0001t0001g0187 | 3 | 190 | 0.0158 | -906 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1639325 | CTCCTGTG others(898): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 223 | 0.0045 | -905 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| NKD2_chr5_1003802_1043943 | 1025671 | TCAGCCCA others(898): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01123.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0160a0001c0001t0001g0220 | 3 | 319 | 0.0094 | -905 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| RABEPK_chr9_125195542_125239161 | 125225700 | CCTGTAAT others(898): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 388 | 0.0026 | -905 | c.527 others(17): Show |
RABEPK | ENSG00000136933.17 | transcript | ENST00000373538.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129856113 | AGAGTCCG others(897): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0019 | 1 | 94 | 0.0106 | -904 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129857741 | ATAACAGA others(897): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0035 | 1 | 94 | 0.0106 | -904 | c.79+ others(17): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154059179 | CCCATCGC others(896): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA19043.hp2 |
a0001 | a0001c0003a0001c0018 | a0001c0003t0007a0001c0018t0009 | a0001c0003t0007g0024a0001c0018t0009g0023 | 2 | 38 | 0.0526 | -903 | c.243 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PGA5_chr11_61236175_61256444 | 61246564 | CCAGCCTG others(896): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0010 | a0010c0023 | a0010c0023t0002 | a0010c0023t0002g0170 | 1 | 406 | 0.0025 | -903 | c.656 others(15): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798500 | GTGGTGGT others(896): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0040 | 1 | 178 | 0.0056 | -903 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1237810 | CTCCCGGT others(895): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0087 | 1 | 106 | 0.0094 | -902 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132931073 | TCCACACA others(895): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 246 | 0.0041 | -902 | c.867 others(17): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 8/57 | chr10 | TogoVar | ||||||
| DMD_chrX_31114222_33216549 | 32683562 | ATGTTCTC others(895): Show |
A | intron_variant | MODIFIER | NA18962.hp1 NA18984.hp1 |
a0001a0031 | a0001c0001a0031c0047 | a0001c0001t0001a0031c0047t0005 | a0001c0001t0001g0084a0031c0047t0005g0081 | 2 | 126 | 0.0159 | -902 | c.960 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 9/78 | chrX | TogoVar | ||||||
| NKD2_chr5_1003802_1043943 | 1024735 | ATTGTCCC others(895): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0007 | a0004c0007t0006 | a0004c0007t0006g0079 | 1 | 319 | 0.0031 | -902 | c.142 others(17): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NUCB1_chr19_48895312_48928372 | 48927470 | CCCACCAC others(895): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 398 | 0.0025 | -902 | c.*50 others(11): Show |
NUCB1 | ENSG00000104805.17 | transcript | ENST00000405315.9 | protein_coding | 4099 | chr19 | TogoVar | ||||||
| PIAS1_chr15_68049315_68198847 | 68059625 | CGCTTGAA others(895): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0179 | 1 | 260 | 0.0039 | -902 | c.24+ others(15): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| RAP1A_chr1_111614789_111721691 | 111635580 | TCTGAAAC others(895): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0284 | 1 | 380 | 0.0026 | -902 | c.-28 others(19): Show |
RAP1A | ENSG00000116473.15 | transcript | ENST00000369709.4 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
| SGTA_chr19_2749715_2788273 | 2773070 | CGGCAGGG others(895): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0003a0001c0003t0016a0001c0012t0003 | a0001c0003t0003g0013a0001c0003t0003g0043a0001c0003t0016g0044others(1): Show | 5 | 396 | 0.0126 | -902 | c.-23 others(17): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| SHOX_chrX_625791_656584 | 647201 | CGAGTAGC others(895): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0132 | 1 | 220 | 0.0046 | -902 | c.*27 others(11): Show |
SHOX | ENSG00000185960.15 | transcript | ENST00000686671.1 | protein_coding | 5/5 | 2709 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
| TAFA5_chr22_48484553_48756932 | 48667768 | TGGGAGCT others(895): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0036 | a0001c0001t0001g0039a0001c0001t0001g0068a0001c0001t0001g0101others(11): Show | 14 | 258 | 0.0543 | -902 | c.262 others(19): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ZFYVE9_chr1_52137089_52351634 | 52202176 | CTGCTTAT others(895): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0098a0001c0001t0001g0104 | 3 | 210 | 0.0143 | -902 | c.-14 others(21): Show |
ZFYVE9 | ENSG00000157077.16 | transcript | ENST00000287727.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1236368 | CACTCCCC others(894): Show |
C | intron_variant | MODIFIER | NA18988.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0011 | 1 | 106 | 0.0094 | -901 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| CCL5_chr17_35866491_35885360 | 35884154 | TGGCCTCC others(894): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp2 HG02071.hp2 HG02132.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0071others(6): Show | 21 | 375 | 0.0560 | -901 | c.-47 others(11): Show |
CCL5 | ENSG00000271503.7 | transcript | ENST00000605140.6 | protein_coding | 3795 | chr17 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186034 | AGGAATAC others(894): Show |
A | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 350 | 0.0029 | -901 | c.*22 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2955 | chr16 | TogoVar | ||||||
| RAP1A_chr1_111614789_111721691 | 111635582 | TGAAACAG others(894): Show |
T | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0285 | 1 | 380 | 0.0026 | -901 | c.-28 others(19): Show |
RAP1A | ENSG00000116473.15 | transcript | ENST00000369709.4 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1117445 | GTTATCCC others(893): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0068 | a0001c0001t0008g0011a0001c0001t0068g0160 | 2 | 337 | 0.0059 | -900 | c.246 others(17): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
| ADAMTS10_chr19_8575240_8615715 | 8598827 | GGCCTCCC others(893): Show |
G | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0196a0001c0009t0001g0197 | 2 | 384 | 0.0052 | -900 | c.810 others(17): Show |
ADAMTS10 | ENSG00000142303.14 | transcript | ENST00000597188.6 | protein_coding | 6/25 | chr19 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1238037 | TTACTCCC others(893): Show |
T | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0103 | 1 | 106 | 0.0094 | -900 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077395 | AGGCTGAG others(893): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0019 | a0001c0001t0006g0039a0001c0001t0006g0045a0001c0001t0006g0067others(5): Show | 8 | 326 | 0.0245 | -900 | c.*45 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4427 | chr1 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077425 | AGGCTGAG others(893): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 | 1 | 326 | 0.0031 | -900 | c.*45 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4397 | chr1 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240908000 | GCTCTACC others(893): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02970.hp1 |
a0016a0044 | a0016c0073a0044c0074 | a0016c0073t0007a0044c0074t0007 | a0016c0073t0007g0166a0044c0074t0007g0165 | 2 | 350 | 0.0057 | -900 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240979099 | GCCCAGGC others(893): Show |
G | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0313 | 1 | 350 | 0.0029 | -900 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240979909 | TCCCAGGC others(893): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18951.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0002a0001c0022t0002 | a0001c0001t0002g0280a0001c0022t0002g0343 | 2 | 350 | 0.0057 | -900 | c.440 others(19): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765955 | GTTGGGGA others(893): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0382 | 1 | 412 | 0.0024 | -900 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805486 | TCCCCCCT others(893): Show |
T | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 314 | 0.0032 | -900 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1200 | chr2 | TogoVar | ||||||
| GRHL2_chr8_101487439_101674726 | 101608720 | TCTCTGCT others(893): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG03225.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0028 | a0001c0001t0001g0043a0001c0001t0001g0057a0001c0001t0001g0113others(3): Show | 6 | 306 | 0.0196 | -900 | c.109 others(19): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 8/15 | chr8 | TogoVar | ||||||
| MAX_chr14_65070127_65107517 | 65071825 | AGCCTCCA others(893): Show |
A | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 382 | 0.0026 | -900 | c.*37 others(11): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 3301 | chr14 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805486 | TCCCCCCT others(893): Show |
T | upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 319 | 0.0031 | -900 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3706 | chr2 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077395 | AGGCTGAG others(893): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02630.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0011a0001c0001t0001g0013a0001c0001t0007g0012others(1): Show | 4 | 324 | 0.0124 | -900 | c.-42 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3090 | chr1 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077425 | AGGCTGAG others(893): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02976.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0042 | 3 | 324 | 0.0093 | -900 | c.-43 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 3120 | chr1 | TogoVar | ||||||
| RPTOR_chr17_80539838_80971368 | 80743875 | CCCTGGCT others(893): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01516.hp1 HG02273.hp2 others(3): Show |
a0001 | a0001c0003a0001c0018a0001c0030others(2): Show | a0001c0003t0004a0001c0018t0016a0001c0030t0003others(2): Show | a0001c0003t0004g0119a0001c0018t0016g0120a0001c0030t0003g0115others(3): Show | 6 | 196 | 0.0306 | -900 | c.655 others(18): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TACC2_chr10_121984163_122259542 | 122200401 | GCACCTCA others(893): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 306 | 0.0033 | -900 | c.597 others(19): Show |
TACC2 | ENSG00000138162.19 | transcript | ENST00000369005.6 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ANKRD30B_chr18_14743172_14859667 | 14856886 | GGGCAGAG others(892): Show |
G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0276a0001c0001t0003g0275a0001c0001t0003g0279 | 3 | 316 | 0.0095 | -899 | c.*27 others(11): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 2220 | chr18 | TogoVar | ||||||
| ANKRD30B_chr18_14743172_14859667 | 14858506 | GGGCAGAG others(892): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(181): Show |
a0001a0002a0004others(23): Show | a0001c0001a0001c0003a0001c0011others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(177): Show | 184 | 316 | 0.5823 | -899 | c.*43 others(11): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 3840 | chr18 | TogoVar | ||||||
| ANKS3_chr16_4691511_4739271 | 4712109 | GCCTGTAA others(892): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0010 | a0006c0010t0009 | a0006c0010t0009g0113 | 1 | 374 | 0.0027 | -899 | c.709 others(17): Show |
ANKS3 | ENSG00000168096.15 | transcript | ENST00000304283.9 | protein_coding | 7/17 | chr16 | TogoVar | ||||||
| CFAP299_chr4_80330730_80968750 | 80587851 | CAAAGTGC others(892): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG02615.hp2 HG02895.hp2 others(5): Show |
a0001a0002 | a0001c0004a0002c0005a0002c0007 | a0001c0004t0001a0002c0005t0001a0002c0007t0001 | a0001c0004t0001g0061a0001c0004t0001g0065a0001c0004t0001g0066others(5): Show | 8 | 96 | 0.0833 | -899 | c.333 others(17): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PTEN_chr10_87858625_87976930 | 87893066 | CTTTTGAC others(892): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01346.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0088 | a0001c0001t0022g0080a0001c0001t0022g0082a0001c0001t0088g0081 | 3 | 322 | 0.0093 | -899 | c.80- others(12): Show |
PTEN | ENSG00000171862.15 | transcript | ENST00000371953.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PTN_chr7_137222341_137348733 | 137294399 | GGCTTGGG others(892): Show |
G | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 296 | 0.0034 | -899 | c.-1- others(17): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090792 | AGCGCCTA others(892): Show |
A | intron_variant | MODIFIER | HG03704.hp1 NA18956.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0038a0001c0001t0001g0214others(3): Show | 6 | 340 | 0.0177 | -899 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ACAP3_chr1_1287391_1312930 | 1288654 | TCTGCTCC others(891): Show |
T | downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 295 | 0.0034 | -898 | c.*40 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3736 | chr1 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 87999928 | GTGCGCGG others(891): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 HG03491.hp1 others(3): Show |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0127a0001c0010t0007g0149a0001c0010t0007g0151others(3): Show | 6 | 352 | 0.0171 | -898 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |