| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NEU4_chr2_241804193_241822413 | 241806497 | TCCCTCCC others(1466): Show |
T | upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 319 | 0.0031 | -1473 | c.-27 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2695 | chr2 | TogoVar | ||||||
| PLS3_chrX_115556174_115655861 | 115565567 | TTTATAAA others(1466): Show |
T | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 254 | 0.0039 | -1473 | c.-9+ others(15): Show |
PLS3 | ENSG00000102024.19 | transcript | ENST00000355899.8 | protein_coding | 1/15 | chrX | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343046 | CCCCCTGT others(1466): Show |
C | intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0043 | 1 | 190 | 0.0053 | -1473 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1394113 | CGCTCCCT others(1465): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -1472 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1403080 | ACCTCCTC others(1464): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 1 | 40 | 0.0250 | -1471 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| HAPLN3_chr15_88872294_88900544 | 88892389 | AGAGGTTG others(1464): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0231 | 1 | 436 | 0.0023 | -1471 | c.-48 others(17): Show |
HAPLN3 | ENSG00000140511.12 | transcript | ENST00000359595.8 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
| KCNIP1_chr5_170499020_170741632 | 170702730 | TGATTAGT others(1464): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp2 HG00621.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(74): Show | 77 | 218 | 0.3532 | -1471 | c.62- others(17): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| PLEKHH1_chr14_67528290_67594612 | 67536095 | TCTCAAGG others(1464): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02451.hp1 others(1): Show |
a0014 | a0014c0033a0014c0083 | a0014c0033t0006a0014c0083t0001 | a0014c0033t0006g0010a0014c0083t0001g0364 | 4 | 414 | 0.0097 | -1471 | c.-35 others(17): Show |
PLEKHH1 | ENSG00000054690.14 | transcript | ENST00000329153.10 | protein_coding | 1/28 | chr14 | TogoVar | ||||||
| ZCCHC8_chr12_122466600_122505932 | 122467309 | GAGATCGA others(1464): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0057 | 1 | 368 | 0.0027 | -1471 | c.*47 others(11): Show |
ZCCHC8 | ENSG00000033030.16 | transcript | ENST00000633063.3 | protein_coding | 4290 | chr12 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(1463): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp2 HG01346.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0002a0003c0005others(3): Show | a0001c0001t0001a0003c0002t0001a0003c0005t0001others(3): Show | a0001c0001t0001g0076a0003c0002t0001g0142a0003c0005t0001g0010others(6): Show | 9 | 185 | 0.0487 | -1470 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408156 | GCAACACT others(1463): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0003 | 1 | 185 | 0.0054 | -1470 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408229 | GCAGGAGG others(1463): Show |
G | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 185 | 0.0054 | -1470 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 321800 | CTGTTAGA others(1463): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0021 | a0001c0021t0002 | a0001c0021t0002g0081 | 1 | 88 | 0.0114 | -1470 | c.392 others(19): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | ||||||
| MAML2_chr11_95971598_96348195 | 96268760 | TCCCCTGC others(1463): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00642.hp1 others(59): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0128a0001c0001t0001g0154a0001c0001t0001g0155others(59): Show | 62 | 230 | 0.2696 | -1470 | c.513 others(19): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
| MAP1LC3A_chr20_34553718_34565345 | 34554628 | GCCCAAAG others(1463): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -1470 | c.-42 others(11): Show |
MAP1LC3A | ENSG00000101460.13 | transcript | ENST00000360668.8 | protein_coding | 4089 | chr20 | TogoVar | ||||||
| LOC101059948_chr19_49012968_49025549 | 49024080 | CTCGGGGG others(1462): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -1469 | c.-50 others(11): Show |
LOC101059948 | ENSG00000268655.3 | transcript | ENST00000637680.2 | protein_coding | 3532 | chr19 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392841 | AGGCAGGT others(1459): Show |
A | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0221 | 1 | 346 | 0.0029 | -1466 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| FARS2_chr6_5256513_5776583 | 5728237 | GGGTTTGT others(1458): Show |
G | intron_variant | MODIFIER | NA18962.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0042 | 2 | 170 | 0.0118 | -1465 | c.121 others(21): Show |
FARS2 | ENSG00000145982.13 | transcript | ENST00000274680.9 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
| SLC12A8_chr3_125077644_125217748 | 125182771 | TCTGGGAT others(1458): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 362 | 0.0028 | -1465 | c.390 others(17): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 4/13 | chr3 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132160065 | TCCTGTGT others(1457): Show |
T | intron_variant | MODIFIER | HG01361.hp2 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0101 | 1 | 158 | 0.0063 | -1464 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76305275 | CATTTTAG others(1456): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02559.hp2 HG03453.hp2 |
a0002a0047 | a0002c0016a0002c0047a0047c0041 | a0002c0016t0019a0002c0047t0045a0047c0041t0024 | a0002c0016t0019g0064a0002c0047t0045g0123a0047c0041t0024g0133 | 3 | 166 | 0.0181 | -1463 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PIK3C2A_chr11_17081575_17212986 | 17188205 | GTGCATGC others(1456): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02055.hp1 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0022 | a0001c0001t0003a0002c0004t0003a0004c0022t0003 | a0001c0001t0003g0082a0001c0001t0003g0171a0001c0001t0003g0172others(18): Show | 21 | 342 | 0.0614 | -1463 | c.-66 others(19): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | ||||||
| EPC1_chr10_32262751_32352158 | 32263260 | TAGTGAGC others(1455): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01243.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004 | a0001c0002t0003g0272a0001c0002t0004g0271 | 2 | 318 | 0.0063 | -1462 | c.*43 others(11): Show |
EPC1 | ENSG00000120616.16 | transcript | ENST00000319778.11 | protein_coding | 4490 | chr10 | TogoVar | ||||||
| LINGO2_chr9_27932617_29218601 | 28047361 | TGAAAGAT others(1455): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00642.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0041a0001c0001t0001g0048a0001c0001t0002g0045others(4): Show | 7 | 62 | 0.1129 | -1462 | c.-35 others(19): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
| NTN1_chr17_9016510_9249000 | 9232374 | AGCTGGAC others(1455): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0208 | 2 | 258 | 0.0078 | -1462 | c.148 others(19): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GLCCI1_chr7_7963796_8094080 | 8079311 | AAATTTTG others(1454): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0046a0001c0001t0087a0001c0006t0088others(3): Show | a0001c0001t0046g0192a0001c0001t0087g0376a0001c0006t0088g0377others(7): Show | 10 | 416 | 0.0240 | -1461 | c.117 others(19): Show |
GLCCI1 | ENSG00000106415.13 | transcript | ENST00000223145.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SLC35F4_chr14_57558920_57871092 | 57807244 | ATGAGTTC others(1454): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0046a0001c0001t0006g0033 | 2 | 218 | 0.0092 | -1461 | c.103 others(19): Show |
SLC35F4 | ENSG00000151812.15 | transcript | ENST00000556826.6 | protein_coding | 1/7 | chr14 | TogoVar | ||||||
| TRPC7_chr5_136207745_136370545 | 136369084 | TAAATCTT others(1454): Show |
T | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 258 | 0.0039 | -1461 | c.-52 others(11): Show |
TRPC7 | ENSG00000069018.19 | transcript | ENST00000513104.6 | protein_coding | 3540 | chr5 | TogoVar | ||||||
| CYP4F11_chr19_15907377_15939529 | 15932445 | GAGAGGAA others(1453): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02486.hp2 |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0170a0004c0007t0031 | a0002c0001t0170g0152a0004c0007t0031g0207 | 2 | 386 | 0.0052 | -1460 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| EYA4_chr6_133236357_133537128 | 133349606 | AACAAAAT others(1453): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0042a0001c0001t0044a0002c0002t0001others(1): Show | a0001c0001t0042g0095a0001c0001t0044g0096a0002c0002t0001g0136others(1): Show | 4 | 264 | 0.0152 | -1460 | c.34- others(17): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 2/19 | chr6 | TogoVar | ||||||
| JMJD1C_chr10_63162225_63470977 | 63339359 | GCTTCAAC others(1453): Show |
G | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 310 | 0.0032 | -1460 | c.333 others(19): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
| S1PR4_chr19_3173769_3185332 | 3174268 | TCTCATGG others(1453): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0000a0001c0002t0001g0000 | 2 | 418 | 0.0048 | -1460 | c.-45 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4500 | chr19 | TogoVar | ||||||
| TECPR2_chr14_102357941_102507477 | 102410270 | TAGAAGAT others(1453): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG02717.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0007a0004c0004t0043others(3): Show | a0004c0004t0006g0143a0004c0004t0006g0144a0004c0004t0006g0145others(15): Show | 18 | 334 | 0.0539 | -1460 | c.480 others(17): Show |
TECPR2 | ENSG00000196663.16 | transcript | ENST00000359520.12 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| TPRG1_chr3_189166971_189330304 | 189285936 | TGAGGGAT others(1453): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 288 | 0.0035 | -1460 | c.480 others(19): Show |
TPRG1 | ENSG00000188001.10 | transcript | ENST00000345063.8 | protein_coding | 4/5 | chr3 | TogoVar | ||||||
| CWC25_chr17_38795441_38830321 | 38807196 | ACCTGTAA others(1451): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp1 others(79): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0022others(63): Show | 82 | 383 | 0.2141 | -1458 | c.690 others(16): Show |
CWC25 | ENSG00000273559.5 | transcript | ENST00000614790.5 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
| ABTB2_chr11_34145987_34363010 | 34272706 | CAAAAAAA others(1450): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0026 | a0002c0002t0026g0243 | 1 | 246 | 0.0041 | -1457 | c.884 others(19): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| MALRD1_chr10_19043801_19739478 | 19707622 | TTGAAGTC others(1450): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00741.hp1 HG00741.hp2 others(43): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0120a0002c0028others(29): Show | a0001c0001t0001a0001c0120t0001a0002c0028t0001others(31): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0054others(43): Show | 46 | 152 | 0.3026 | -1457 | c.631 others(21): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560558 | GAGGCTCT others(1449): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0002t0002g0002 | 3 | 180 | 0.0167 | -1456 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140549599 | AGGGGACT others(1448): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0018 | a0001c0001t0002g0091a0001c0009t0018g0018 | 2 | 110 | 0.0182 | -1455 | c.167 others(19): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| OR4M2B_chr15_21632909_21643992 | 21642538 | GTGGCATG others(1447): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00738.hp1 others(26): Show |
a0003a0004a0012 | a0003c0003a0004c0004a0004c0013others(1): Show | a0003c0003t0001a0004c0004t0001a0004c0004t0002others(2): Show | a0003c0003t0001g0000a0004c0004t0001g0000a0004c0004t0002g0000others(2): Show | 29 | 215 | 0.1349 | -1454 | c.*35 others(11): Show |
OR4M2B | ENSG00000182974.3 | transcript | ENST00000332663.3 | protein_coding | 3547 | chr15 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35372753 | GCCCCTGT others(1445): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0020 | a0009c0020t0001 | a0009c0020t0001g0103 | 1 | 224 | 0.0045 | -1452 | c.954 others(18): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 13/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| BTBD9_chr6_38163451_38644929 | 38429983 | TCTCCCTT others(1444): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0114a0001c0001t0136 | a0001c0001t0114g0013a0001c0001t0136g0142 | 2 | 224 | 0.0089 | -1451 | c.115 others(21): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
| CACNA2D2_chr3_50357613_50508634 | 50405938 | ACTCTGAC others(1444): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG02071.hp1 others(12): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0027others(1): Show | a0001c0001t0002g0184a0001c0001t0002g0186a0001c0001t0002g0188others(12): Show | 15 | 234 | 0.0641 | -1451 | c.406 others(19): Show |
CACNA2D2 | ENSG00000007402.12 | transcript | ENST00000424201.7 | protein_coding | 3/37 | chr3 | TogoVar | ||||||
| TOM1L1_chr17_54895852_54966956 | 54897335 | GATCACGT others(1444): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 392 | 0.0026 | -1451 | c.-35 others(11): Show |
TOM1L1 | ENSG00000141198.16 | transcript | ENST00000575882.6 | protein_coding | 3516 | chr17 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765256 | CTGGGGAG others(1443): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02922.hp2 HG03098.hp1 |
a0004a0005 | a0004c0022a0005c0004 | a0004c0022t0048a0005c0004t0023 | a0004c0022t0048g0212a0005c0004t0023g0380a0005c0004t0023g0381 | 3 | 412 | 0.0073 | -1450 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| D2HGDH_chr2_241729630_241773811 | 241765806 | GTGGGGAG others(1443): Show |
G | intron_variant | MODIFIER | HG00621.hp1 NA18963.hp2 |
a0002a0010 | a0002c0002a0010c0014 | a0002c0002t0001a0010c0014t0003 | a0002c0002t0001g0200a0010c0014t0003g0294 | 2 | 412 | 0.0049 | -1450 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| NFS1_chr20_35663052_35704352 | 35684356 | AGAGATCG others(1443): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0027a0001c0001t0001g0028others(4): Show | 8 | 268 | 0.0299 | -1450 | c.562 others(17): Show |
NFS1 | ENSG00000244005.13 | transcript | ENST00000374092.9 | protein_coding | 5/12 | chr20 | TogoVar | ||||||
| PSD3_chr8_18522303_19018703 | 18968756 | ATCCCAGC others(1442): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0177 | 1 | 228 | 0.0044 | -1449 | c.22- others(17): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | ||||||
| NOC4L_chr12_132139457_132157468 | 132148890 | ACCTCGGT others(1440): Show |
A | intron_variant | MODIFIER | HG00609.hp2 NA19009.hp1 NA19056.hp2 |
a0002a0005 | a0002c0002a0005c0038 | a0002c0002t0001a0005c0038t0001 | a0002c0002t0001g0235a0002c0002t0001g0236a0005c0038t0001g0219 | 3 | 294 | 0.0102 | -1447 | c.901 others(14): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| NOC4L_chr12_132139457_132157468 | 132149001 | ACTCCTAC others(1440): Show |
A | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 294 | 0.0034 | -1447 | c.901 others(15): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |