| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NMRK2_chr19_3928069_3947416 | 3930431 | TCTCCTGA others(2327): Show |
T | upstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 404 | 0.0025 | -2334 | c.-29 others(10): Show |
NMRK2 | ENSG00000077009.14 | transcript | ENST00000168977.7 | protein_coding | 2637 | chr19 | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(2327): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01358.hp1 HG03490.hp2 others(2): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0055 | a0002c0002t0001g0192a0002c0002t0001g0193a0002c0002t0001g0196others(2): Show | 5 | 366 | 0.0137 | -2334 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744781 | TTCGCCGT others(2327): Show |
T | intron_variant | MODIFIER | NA18943.hp2 NA18971.hp1 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0345a0001c0003t0010g0346 | 2 | 366 | 0.0055 | -2334 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744873 | CGGGGTCG others(2327): Show |
C | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0271 | 1 | 366 | 0.0027 | -2334 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| SPIRE2_chr16_89823475_89876319 | 89829649 | GGTGGGGG others(2326): Show |
G | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 356 | 0.0028 | -2333 | c.244 others(16): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
| RIMS4_chr20_44746808_44815546 | 44762210 | CGGTAACG others(2325): Show |
C | intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 382 | 0.0026 | -2332 | c.237 others(17): Show |
RIMS4 | ENSG00000101098.13 | transcript | ENST00000372851.8 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1369722 | CCTCCAGC others(2323): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 115 | 0.0087 | -2330 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1374108 | GGGCCTCA others(2323): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0048 | 1 | 115 | 0.0087 | -2330 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1374538 | GCACAGGG others(2323): Show |
G | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 115 | 0.0087 | -2330 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ME3_chr11_86436108_86677616 | 86593188 | TCCACCCT others(2321): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00558.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0061a0001c0001t0002g0217a0001c0001t0002g0234others(77): Show | 80 | 320 | 0.2500 | -2328 | c.184 others(19): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
| BMP8A_chr1_39486636_39534869 | 39532542 | CCCCAGCA others(2320): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(27): Show |
a0004a0008a0013others(1): Show | a0004c0004a0004c0008a0008c0010others(3): Show | a0004c0004t0004a0004c0004t0020a0004c0008t0004others(8): Show | a0004c0004t0004g0010a0004c0004t0004g0025a0004c0004t0004g0028others(18): Show | 30 | 362 | 0.0829 | -2327 | c.*67 others(11): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 2674 | chr1 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1373856 | CATCTCCA others(2320): Show |
C | intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 115 | 0.0087 | -2327 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | chrX | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805291 | TCCCCCCT others(2318): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 319 | 0.0031 | -2325 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3901 | chr2 | TogoVar | |||||||
| NR3C2_chr4_148073764_148447414 | 148178145 | CTGGCAAA others(2317): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 170 | 0.0059 | -2324 | c.201 others(21): Show |
NR3C2 | ENSG00000151623.15 | transcript | ENST00000358102.8 | protein_coding | 4/8 | chr4 | TogoVar | |||||||
| CST4_chr20_23680640_23694038 | 23691262 | GATGGATC others(2316): Show |
G | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02572.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0007a0002c0003t0004g0032 | 7 | 452 | 0.0155 | -2323 | c.-46 others(11): Show |
CST4 | ENSG00000101441.5 | transcript | ENST00000217423.4 | protein_coding | 2225 | chr20 | TogoVar | |||||||
| KRTAP5-5_chr11_1624775_1635930 | 1632975 | CGGAATTC others(2316): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00733.hp2 others(52): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0007a0002c0002others(9): Show | a0001c0001t0001a0001c0007t0001a0001c0007t0006others(10): Show | a0001c0001t0001g0000a0001c0007t0001g0000a0001c0007t0006g0000others(10): Show | 55 | 445 | 0.1236 | -2323 | c.*24 others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 2046 | chr11 | TogoVar | |||||||
| SV2C_chr5_76078383_76338956 | 76170754 | TAAAAATT others(2315): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0013a0001c0001t0065a0001c0001t0068others(4): Show | a0001c0001t0013g0085a0001c0001t0065g0233a0001c0001t0068g0092others(4): Show | 7 | 234 | 0.0299 | -2322 | c.581 others(19): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| HK2_chr2_74829127_74898359 | 74864959 | GCTGCTGA others(2314): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0023 | a0002c0023t0006 | a0002c0023t0006g0370 | 1 | 394 | 0.0025 | -2321 | c.227 others(16): Show |
HK2 | ENSG00000159399.10 | transcript | ENST00000290573.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| GOLGA1_chr9_124873275_124946083 | 124934019 | AGTCCTCC others(2306): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA19005.hp1 NA19006.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0229a0002c0003t0001g0230a0002c0003t0001g0231 | 3 | 374 | 0.0080 | -2313 | c.135 others(17): Show |
GOLGA1 | ENSG00000136935.14 | transcript | ENST00000373555.9 | protein_coding | 3/22 | chr9 | TogoVar | |||||||
| TM4SF20_chr2_227357038_227384306 | 227365989 | AGTTGCAT others(2306): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG02129.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0123 | 1 | 470 | 0.0021 | -2313 | c.250 others(16): Show |
TM4SF20 | ENSG00000168955.4 | transcript | ENST00000304568.4 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
| MECOM_chr3_169078507_169668712 | 169596096 | GAAAATAT others(2305): Show |
G | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0102 | 1 | 160 | 0.0063 | -2312 | c.37+ others(17): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
| PHF21B_chr22_44876162_45015005 | 44932369 | TCCTTATT others(2301): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0198 | 1 | 300 | 0.0033 | -2308 | c.121 others(19): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
| P2RX5_chr17_3668227_3701155 | 3685658 | CCCAGCCT others(2300): Show |
C | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0161 | 1 | 362 | 0.0028 | -2307 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
| SPIDR_chr8_47255938_47741306 | 47389456 | GAGGCGGG others(2300): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 216 | 0.0046 | -2307 | c.526 others(17): Show |
SPIDR | ENSG00000164808.17 | transcript | ENST00000297423.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| ZNF616_chr19_52108091_52144938 | 52142631 | TGAAAGCA others(2300): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0168 | 1 | 414 | 0.0024 | -2307 | c.-52 others(11): Show |
ZNF616 | ENSG00000204611.7 | transcript | ENST00000600228.6 | protein_coding | 2694 | chr19 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1639432 | ATGCTTCA others(2299): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112 | 1 | 223 | 0.0045 | -2306 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| TMEM163_chr2_134450759_134724000 | 134607041 | GACAGACC others(2298): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191 | 1 | 222 | 0.0045 | -2305 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | |||||||
| EMID1_chr22_29200896_29264597 | 29237097 | TATTTTCT others(2297): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(69): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0002t0001g0014a0001c0002t0001g0059a0001c0002t0001g0060others(66): Show | 72 | 348 | 0.2069 | -2304 | c.107 others(19): Show |
EMID1 | ENSG00000186998.16 | transcript | ENST00000334018.11 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| EPS15_chr1_51349263_51524266 | 51449479 | TATTAAAT others(2297): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02647.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026a0001c0002t0001g0046a0001c0002t0001g0047others(1): Show | 4 | 152 | 0.0263 | -2304 | c.562 others(17): Show |
EPS15 | ENSG00000085832.18 | transcript | ENST00000371733.8 | protein_coding | 8/24 | chr1 | TogoVar | |||||||
| STAU1_chr20_49108339_49193334 | 49125573 | GCGGTGGC others(2296): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 366 | 0.0027 | -2303 | c.610 others(16): Show |
STAU1 | ENSG00000124214.21 | transcript | ENST00000371856.7 | protein_coding | 6/13 | chr20 | TogoVar | |||||||
| METTL21A_chr2_207607739_207630394 | 207609758 | TAGAAAAC others(2295): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(352): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0015others(114): Show | 355 | 386 | 0.9197 | -2302 | c.*98 others(10): Show |
METTL21A | ENSG00000144401.14 | transcript | ENST00000411432.6 | protein_coding | 2980 | chr2 | TogoVar | |||||||
| CYP4F11_chr19_15907377_15939529 | 15931585 | GAGAGGAA others(2293): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0004 | a0001c0004t0113 | a0001c0004t0113g0212 | 1 | 386 | 0.0026 | -2300 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1398564 | ATCCTCCT others(2293): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -2300 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132232257 | TCCCTAGT others(2293): Show |
T | intron_variant | MODIFIER | HG02027.hp1 HG02683.hp1 NA18964.hp2 others(3): Show |
a0001a0003 | a0001c0011a0001c0013a0001c0020others(1): Show | a0001c0011t0001a0001c0013t0004a0001c0020t0001others(1): Show | a0001c0011t0001g0065a0001c0011t0001g0116a0001c0013t0004g0036others(3): Show | 6 | 183 | 0.0328 | -2300 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| CRPPA_chr7_16082525_16426538 | 16132148 | CAAAGAGT others(2292): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(119): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(37): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0070others(119): Show | 122 | 290 | 0.4207 | -2299 | c.125 others(21): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
| GGACT_chr13_100525180_100593789 | 100557000 | ATGCCTCA others(2291): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18984.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0335a0001c0001t0001g0336 | 3 | 376 | 0.0080 | -2298 | c.-11 others(19): Show |
GGACT | ENSG00000134864.11 | transcript | ENST00000683975.1 | protein_coding | 2/2 | chr13 | TogoVar | |||||||
| ZNF678_chr1_227558556_227667461 | 227589041 | ACCTTTGT others(2291): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02486.hp1 others(3): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0003a0006c0006t0002 | a0001c0001t0002g0024a0001c0001t0002g0324a0001c0001t0003g0228others(1): Show | 6 | 394 | 0.0152 | -2298 | c.-16 others(21): Show |
ZNF678 | ENSG00000181450.18 | transcript | ENST00000343776.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NLN_chr5_65717205_65834283 | 65732256 | TAGAAAGA others(2290): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp2 HG00735.hp1 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(27): Show | a0001c0001t0002g0258a0001c0001t0004g0266a0001c0001t0004g0271others(56): Show | 62 | 336 | 0.1845 | -2297 | c.41+ others(16): Show |
NLN | ENSG00000123213.23 | transcript | ENST00000380985.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| TRAPPC9_chr8_139722725_140462744 | 139960609 | TCAAGTCT others(2290): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0024others(9): Show | a0001c0001t0001g0054a0001c0001t0001g0059a0001c0001t0001g0071others(15): Show | 18 | 98 | 0.1837 | -2297 | c.281 others(21): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 19/22 | chr8 | TogoVar | |||||||
| PHF8_chrX_53931680_54049473 | 53969591 | ATGACATT others(2289): Show |
A | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 186 | 0.0054 | -2296 | c.244 others(19): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 18/21 | chrX | TogoVar | |||||||
| VAV1_chr19_6767708_6862361 | 6858760 | TCTTGCTC others(2289): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005a0001c0001t0002g0025a0001c0001t0002g0041others(6): Show | 9 | 306 | 0.0294 | -2296 | c.*16 others(11): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 1400 | chr19 | TogoVar | |||||||
| DEPDC1B_chr5_60591912_60705166 | 60653742 | TATATTTA others(2287): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0016others(45): Show | 49 | 292 | 0.1678 | -2294 | c.315 others(17): Show |
DEPDC1B | ENSG00000035499.13 | transcript | ENST00000265036.10 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1015145 | GTGTGACC others(2286): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 40 | 0.0250 | -2293 | c.73+ others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DNMT3L_chr21_44241339_44266897 | 44264358 | GATGGTCT others(2286): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 2 | 392 | 0.0051 | -2293 | c.-49 others(11): Show |
DNMT3L | ENSG00000142182.9 | transcript | ENST00000628202.3 | protein_coding | 2462 | chr21 | TogoVar | |||||||
| PDZD2_chr5_31634131_32115932 | 31886118 | GTAACTCC others(2286): Show |
G | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 216 | 0.0046 | -2293 | c.476 others(19): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | chr5 | TogoVar | |||||||
| WWOX_chr16_78094654_79217667 | 78259447 | CTGCCGAC others(2286): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0111 | 1 | 142 | 0.0070 | -2293 | c.516 others(19): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| ZNF473_chr19_50021005_50053776 | 50051484 | CGAGTGGC others(2285): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007 | a0002c0002t0002g0024a0002c0002t0002g0063a0002c0002t0002g0064others(18): Show | 23 | 416 | 0.0553 | -2292 | c.*44 others(11): Show |
ZNF473 | ENSG00000142528.16 | transcript | ENST00000270617.8 | protein_coding | 2709 | chr19 | TogoVar | |||||||
| DHDH_chr19_48928699_48949969 | 48935479 | CCACTGCA others(2284): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG03704.hp1 | a0019 | a0019c0030 | a0019c0030t0001 | a0019c0030t0001g0201 | 1 | 436 | 0.0023 | -2291 | c.202 others(16): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805361 | ACCTTCCC others(2282): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 314 | 0.0032 | -2289 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1075 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805361 | ACCTTCCC others(2282): Show |
A | upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -2289 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3831 | chr2 | TogoVar |