| 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 | 1009359 | CATGCTGG others(369): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp2 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(9): Show | a0001c0001t0001g0063a0001c0001t0001g0067a0001c0002t0001g0041others(21): Show | 24 | 190 | 0.1263 | -376 | c.72+ others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | chr2 | TogoVar | ||||||
| THRB_chr3_24112153_24499850 | 24121641 | AGGGTATG others(369): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02970.hp1 | a0000 | a0000c0004 | a0000c0004t0054 | a0000c0004t0054g0131 | 1 | 178 | 0.0056 | -376 | c.*86 others(10): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 11/11 | 867 | chr3 | TogoVar | |||||
| TOLLIP_chr11_1269371_1314632 | 1294527 | CGTGGCTC others(369): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0255 | 1 | 348 | 0.0029 | -376 | c.183 others(16): Show |
TOLLIP | ENSG00000078902.16 | transcript | ENST00000317204.11 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89421265 | TGGGGGTG others(368): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0149a0001c0007t0001g0147a0001c0007t0001g0148others(1): Show | 4 | 310 | 0.0129 | -375 | c.-14 others(19): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 1/12 | chr16 | TogoVar | ||||||
| ANKRD40CL_chr17_50756030_50772518 | 50766754 | GCAGAGTG others(368): Show |
G | exon_loss_variant others(1): Show |
HIGH | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0008 | a0002c0002t0007g0023a0002c0002t0007g0030a0002c0002t0007g0031others(2): Show | 9 | 456 | 0.0197 | -375 | c.-98 others(14): Show |
ANKRD40CL | ENSG00000167117.10 | transcript | ENST00000450727.6 | protein_coding | 2/4 | chr17 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112803978 | ATTCCCCT others(368): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 254 | 0.0039 | -375 | c.163 others(15): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| BDH1_chr3_197504783_197560968 | 197517668 | ACCCCCCC others(368): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0193 | a0001c0001t0193g0031 | 1 | 319 | 0.0031 | -375 | c.410 others(17): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53922984 | TCCCAGGA others(368): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0059a0001c0001t0019g0281 | 2 | 364 | 0.0055 | -375 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CCDC77_chr12_396644_447642 | 420094 | CTGTGTGT others(368): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 432 | 0.0023 | -375 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CDH13_chr16_82621969_83805640 | 83443779 | GCGAGAGC others(368): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0073 | 1 | 110 | 0.0091 | -375 | c.782 others(19): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 6/13 | chr16 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61784050 | TTGTGCCC others(368): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02809.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0002a0001c0003t0032a0001c0003t0053others(2): Show | a0001c0001t0002g0007a0001c0003t0032g0040a0001c0003t0053g0074others(2): Show | 5 | 106 | 0.0472 | -375 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240908095 | CGTGAGCT others(368): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02258.hp2 HG02647.hp1 others(1): Show |
a0003a0005 | a0003c0086a0005c0005 | a0003c0086t0001a0005c0005t0001 | a0003c0086t0001g0066a0005c0005t0001g0065a0005c0005t0001g0067others(1): Show | 4 | 350 | 0.0114 | -375 | 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 | 240908794 | AGGTGACC others(368): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0056 | a0056c0032 | a0056c0032t0001 | a0056c0032t0001g0104 | 1 | 350 | 0.0029 | -375 | 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 | 240908925 | GCTCTACC others(368): Show |
G | intron_variant | MODIFIER | HG04115.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0063 | 1 | 350 | 0.0029 | -375 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DMD_chrX_31114222_33216549 | 32314798 | CACTGGTC others(368): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0014 | a0014c0017 | a0014c0017t0001 | a0014c0017t0001g0107 | 1 | 126 | 0.0079 | -375 | c.592 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241806652 | CCCCTCAG others(368): Show |
C | downstream_gene_variant | MODIFIER | NA18959.hp2 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0016a0002c0002t0002g0160 | 2 | 314 | 0.0064 | -375 | c.*24 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2366 | chr2 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77258929 | CATGGTGG others(368): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0081a0001c0002t0050a0001c0004t0028others(1): Show | a0001c0001t0081g0152a0001c0002t0050g0012a0001c0004t0028g0320others(3): Show | 7 | 366 | 0.0191 | -375 | c.732 others(17): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| GLG1_chr16_74442440_74612114 | 74466846 | AATGAAAA others(368): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0003 | a0001c0003t0022 | a0001c0003t0022g0301 | 1 | 342 | 0.0029 | -375 | c.252 others(17): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 18/25 | chr16 | TogoVar | ||||||
| INPP5E_chr9_136423619_136444845 | 136431326 | CTCCTCAT others(368): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0018 | a0001c0018t0021 | a0001c0018t0021g0140 | 1 | 382 | 0.0026 | -375 | c.154 others(17): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
| LOC128462377_chr16_89312046_89423292 | 89421265 | TGGGGGTG others(368): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0068a0001c0001t0000g0069a0001c0001t0000g0085others(1): Show | 4 | 366 | 0.0109 | -375 | c.-33 others(11): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 2974 | chr16 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195776325 | TCATACCT others(368): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0105 | a0105c0124 | a0105c0124t0003 | a0105c0124t0003g0116 | 1 | 249 | 0.0040 | -375 | c.129 others(21): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241806652 | CCCCTCAG others(368): Show |
C | upstream_gene_variant | MODIFIER | NA18959.hp1 NA19066.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0045a0002c0003t0002g0139 | 2 | 319 | 0.0063 | -375 | c.-26 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2540 | chr2 | TogoVar | ||||||
| PIK3C2B_chr1_204417633_204499805 | 204471058 | CATGGCTT others(368): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(15): Show |
a0001a0011a0012 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0150a0001c0002t0001g0014a0001c0002t0001g0016others(12): Show | 18 | 302 | 0.0596 | -375 | c.-84 others(17): Show |
PIK3C2B | ENSG00000133056.14 | transcript | ENST00000684373.1 | protein_coding | 1/32 | chr1 | TogoVar | ||||||
| PRKCA_chr17_66297613_66815743 | 66798869 | GTGGTGGT others(368): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0066 | a0001c0001t0029g0171a0001c0001t0066g0069 | 2 | 178 | 0.0112 | -375 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PRKCA_chr17_66297613_66815743 | 66799010 | GTGGTGGT others(368): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02647.hp2 |
a0001 | a0001c0002 | a0001c0002t0014a0001c0002t0050a0001c0002t0076 | a0001c0002t0014g0066a0001c0002t0050g0034a0001c0002t0076g0032 | 3 | 178 | 0.0169 | -375 | c.185 others(19): Show |
PRKCA | ENSG00000154229.12 | transcript | ENST00000413366.8 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PXDN_chr2_1626887_1749515 | 1703803 | GCAACTCC others(368): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0263 | 1 | 322 | 0.0031 | -375 | c.201 others(19): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18262592 | CAGCCTCC others(368): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02451.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0227others(11): Show | 14 | 247 | 0.0567 | -375 | c.948 others(17): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| SLC16A11_chr17_7036621_7049092 | 7037069 | TGGCCGGG others(368): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp2 others(15): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0001a0001c0017t0001g0022 | 18 | 420 | 0.0429 | -375 | c.*42 others(11): Show |
SLC16A11 | ENSG00000174326.15 | transcript | ENST00000574600.3 | protein_coding | 4551 | chr17 | TogoVar | ||||||
| SLC16A13_chr17_7031015_7045117 | 7037069 | TGGCCGGG others(368): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00738.hp2 others(15): Show |
a0001a0013 | a0001c0004a0013c0018 | a0001c0004t0001a0001c0004t0002a0013c0018t0002 | a0001c0004t0001g0006a0001c0004t0002g0006a0013c0018t0002g0006 | 18 | 426 | 0.0423 | -375 | c.343 others(15): Show |
SLC16A13 | ENSG00000174327.7 | transcript | ENST00000308027.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SRRM2_chr16_2747638_2776412 | 2748230 | AGCACCAC others(368): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02976.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0019 | 4 | 402 | 0.0100 | -375 | c.-46 others(11): Show |
SRRM2 | ENSG00000167978.19 | transcript | ENST00000301740.13 | protein_coding | 4407 | chr16 | TogoVar | ||||||
| TRIO_chr5_14138342_14515204 | 14403453 | TGTGGTGA others(368): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0009 | a0009c0045 | a0009c0045t0001 | a0009c0045t0001g0035 | 1 | 198 | 0.0051 | -375 | c.471 others(19): Show |
TRIO | ENSG00000038382.23 | transcript | ENST00000344204.9 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291361 | CCCCGTGT others(368): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 284 | 0.0035 | -375 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393863 | GGGCAGGT others(368): Show |
G | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0168 | a0001c0001t0168g0087 | 1 | 346 | 0.0029 | -375 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| AGBL1_chr15_86074871_86921156 | 86756120 | AGGGAAGA others(367): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02647.hp1 others(2): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0003c0011others(2): Show | a0001c0001t0003a0001c0002t0006a0003c0011t0003others(2): Show | a0001c0001t0003g0113a0001c0002t0006g0003a0003c0011t0003g0105others(2): Show | 5 | 132 | 0.0379 | -374 | c.315 others(21): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AKAP17A_chrX_1586604_1607520 | 1603644 | GCGCCACT others(367): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(62): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(54): Show | 65 | 151 | 0.4305 | -374 | c.*20 others(11): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 1125 | chrX | TogoVar | ||||||
| BTBD9_chr6_38163451_38644929 | 38431481 | ATGCCAGA others(367): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0136 | a0001c0001t0114g0013a0001c0001t0136g0142 | 2 | 224 | 0.0089 | -374 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61784003 | AATGTAAG others(367): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 106 | 0.0094 | -374 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784253 | AATGTAAG others(367): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0065 | 1 | 106 | 0.0094 | -374 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61784378 | AATGTAAT others(367): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0067 | 1 | 106 | 0.0094 | -374 | c.576 others(19): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45437440 | ACACACTC others(367): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0011 | a0011c0104 | a0011c0104t0002 | a0011c0104t0002g0003 | 1 | 292 | 0.0034 | -374 | c.107 others(19): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| EXD3_chr9_137301896_137428162 | 137329394 | TACACGGG others(367): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG02615.hp2 HG02896.hp2 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0007t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0043a0001c0001t0001g0078others(6): Show | 9 | 82 | 0.1098 | -374 | c.199 others(19): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| F7_chr13_113100791_113125685 | 113107939 | TGTGGGTG others(367): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 2 | 400 | 0.0050 | -374 | c.64+ others(15): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
| FEM1A_chr19_4786734_4806273 | 4798001 | AAGGCGGG others(367): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0000 | 2 | 430 | 0.0047 | -374 | c.*41 others(11): Show |
FEM1A | ENSG00000141965.5 | transcript | ENST00000269856.5 | protein_coding | 1/1 | 4165 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| FEM1A_chr19_4786734_4806273 | 4798031 | GAGACCAT others(367): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0300 | a0001c0001t0300g0000 | 1 | 430 | 0.0023 | -374 | c.*42 others(11): Show |
FEM1A | ENSG00000141965.5 | transcript | ENST00000269856.5 | protein_coding | 1/1 | 4204 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| GAL3ST2_chr2_241771822_241809287 | 241806649 | TCCCCCCT others(367): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 314 | 0.0032 | -374 | c.*24 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2363 | chr2 | TogoVar | ||||||
| GMEB2_chr20_63582605_63632101 | 63607338 | TCACCTCC others(367): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp2 others(98): Show |
a0001 | a0001c0001a0001c0008a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0023others(85): Show | 101 | 330 | 0.3061 | -374 | c.132 others(17): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 2/9 | chr20 | TogoVar | ||||||
| HTT_chr4_3069681_3248957 | 3227239 | TACAGTGC others(367): Show |
T | intron_variant | MODIFIER | HG02132.hp1 HG02523.hp1 |
a0012a0020 | a0012c0012a0020c0084 | a0012c0012t0003a0020c0084t0003 | a0012c0012t0003g0089a0020c0084t0003g0093 | 2 | 294 | 0.0068 | -374 | c.784 others(18): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 57/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| INPP5E_chr9_136423619_136444845 | 136431349 | CCCCCCAG others(367): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0050 | 1 | 382 | 0.0026 | -374 | c.154 others(17): Show |
INPP5E | ENSG00000148384.14 | transcript | ENST00000371712.4 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
| LINGO1_chr15_77608027_77637912 | 77618519 | ACTGTTAT others(367): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(381): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(41): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(188): Show | 384 | 386 | 0.9948 | -374 | c.7-2 others(13): Show |
LINGO1 | ENSG00000169783.13 | transcript | ENST00000355300.7 | protein_coding | 1/1 | chr15 | TogoVar | ||||||
| MECOM_chr3_169078507_169668712 | 169485667 | TTTTTATT others(367): Show |
T | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 160 | 0.0063 | -374 | c.38- others(19): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar |