| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FOXN3_chr14_89151177_89422233 | 89361615 | ACCACCTC others(878): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0185 | 1 | 230 | 0.0044 | -885 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| MUC17_chr7_101015081_101063859 | 101038140 | GCAACTCC others(878): Show |
G | conservative_inframe_deletion | MODERATE | HG02071.hp2 | a0040 | a0040c0043 | a0040c0043t0003 | a0040c0043t0003g0008 | 1 | 366 | 0.0027 | -885 | c.673 others(9): Show |
p.Thr others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 6794/14352 | 6739/13482 | 2247/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| TMED2_chr12_123579552_123603582 | 123579878 | GGAGGTTG others(878): Show |
G | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048a0001c0001t0012g0049 | 2 | 284 | 0.0070 | -885 | c.-47 others(11): Show |
TMED2 | ENSG00000086598.11 | transcript | ENST00000262225.8 | protein_coding | 4673 | chr12 | TogoVar | ||||||
| ZNF124_chr1_247149989_247177020 | 247176135 | ATTTATAT others(878): Show |
A | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0229 | 1 | 398 | 0.0025 | -885 | c.-51 others(11): Show |
ZNF124 | ENSG00000196418.13 | transcript | ENST00000543802.3 | protein_coding | 4116 | chr1 | TogoVar | ||||||
| CDX2_chr13_27955918_27974315 | 27957639 | TGGGCATG others(877): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0081 | 1 | 418 | 0.0024 | -884 | c.*45 others(11): Show |
CDX2 | ENSG00000165556.10 | transcript | ENST00000381020.8 | protein_coding | 3278 | chr13 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277749 | AGAGGGAG others(877): Show |
A | intron_variant | MODIFIER | HG03471.hp1 homoSapiens_chm13v2.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0002a0004c0004t0005 | a0003c0003t0002g0013a0004c0004t0005g0030 | 2 | 50 | 0.0400 | -884 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| MTMR3_chr22_29878174_30035868 | 29940321 | GTGAGATC others(877): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02055.hp2 others(18): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0010a0001c0002t0011a0001c0002t0051others(3): Show | a0001c0002t0010g0242a0001c0002t0010g0243a0001c0002t0010g0244others(18): Show | 21 | 334 | 0.0629 | -884 | c.-13 others(21): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| NCOR1_chr17_16024157_16220534 | 16176541 | CTGCAGGT others(877): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0175a0001c0001t0013g0176 | 2 | 282 | 0.0071 | -884 | c.243 others(17): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 3/45 | chr17 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 233951116 | AGTATGCC others(877): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03579.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0025a0001c0002t0007g0026 | 2 | 158 | 0.0127 | -884 | c.283 others(19): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| SMOC2_chr6_168436184_168672992 | 168560493 | GGCCCTGA others(877): Show |
G | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 180 | 0.0056 | -884 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560505 | TGAGGCTC others(877): Show |
T | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 180 | 0.0056 | -884 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SMOC2_chr6_168436184_168672992 | 168560598 | GCCCTGAG others(877): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 180 | 0.0056 | -884 | c.637 others(19): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CCDC77_chr12_396644_447642 | 420646 | TACACATA others(876): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01496.hp1 others(12): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0004a0001c0001t0008a0003c0003t0004others(1): Show | a0001c0001t0004g0092a0001c0001t0004g0159a0001c0001t0004g0160others(12): Show | 15 | 432 | 0.0347 | -883 | c.413 others(17): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| FAM151B_chr5_80483100_80547563 | 80546680 | TAGAAAAT others(876): Show |
T | downstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 356 | 0.0028 | -883 | c.*48 others(11): Show |
FAM151B | ENSG00000152380.10 | transcript | ENST00000282226.5 | protein_coding | 4118 | chr5 | TogoVar | ||||||
| PLXNA4_chr7_132118340_132581470 | 132562089 | TCCTCCTT others(876): Show |
T | intron_variant | MODIFIER | HG03831.hp2 HG03927.hp2 |
a0001a0004 | a0001c0031a0004c0015 | a0001c0031t0002a0004c0015t0001 | a0001c0031t0002g0083a0004c0015t0001g0084 | 2 | 88 | 0.0227 | -883 | c.-87 others(19): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(876): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(57): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0035others(57): Show | 60 | 314 | 0.1911 | -883 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62057812 | CGGGGGGC others(876): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 314 | 0.0032 | -883 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| ACTN2_chr1_236681499_236769631 | 236755707 | TGTTAGAA others(875): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0008 | a0008c0017 | a0008c0017t0024 | a0008c0017t0024g0099 | 1 | 344 | 0.0029 | -882 | c.215 others(17): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CPM_chr12_68846175_68938171 | 68854950 | AGGTTCAA others(875): Show |
A | 3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0211 | 1 | 340 | 0.0029 | -882 | c.*60 others(10): Show |
CPM | ENSG00000135678.12 | transcript | ENST00000551568.6 | protein_coding | 9/9 | 605 | chr12 | TogoVar | |||||
| GP1BB_chr22_19718539_19729771 | 19725632 | GGCGGTGA others(875): Show |
G | downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | -882 | c.*11 others(11): Show |
GP1BB | ENSG00000203618.6 | transcript | ENST00000366425.4 | protein_coding | 862 | chr22 | TogoVar | ||||||
| IRS2_chr13_109747695_109791583 | 109765935 | CTCCTCCC others(875): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG01069.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0119a0001c0001t0002g0063a0001c0001t0002g0064others(9): Show | 14 | 398 | 0.0352 | -882 | c.401 others(20): Show |
IRS2 | ENSG00000185950.9 | transcript | ENST00000375856.5 | protein_coding | 1/1 | chr13 | TogoVar | ||||||
| RCAN2_chr6_46215736_46496449 | 46444788 | CACAGAGC others(875): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 158 | 0.0063 | -882 | c.225 others(19): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| SEPTIN5_chr22_19709503_19728319 | 19725632 | GGCGGTGA others(875): Show |
G | downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | -882 | c.*31 others(11): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 2314 | chr22 | TogoVar | ||||||
| SLC66A2_chr18_79897420_79956653 | 79920964 | GGAACCGA others(875): Show |
G | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0199 | 1 | 352 | 0.0028 | -882 | c.392 others(17): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| TXNRD2_chr22_19870522_19946818 | 19925001 | GGGGCCAG others(875): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0035 | a0004c0035t0002 | a0004c0035t0002g0273 | 1 | 372 | 0.0027 | -882 | c.172 others(17): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 2/17 | chr22 | TogoVar | ||||||
| TXNRD2_chr22_19870522_19946818 | 19925007 | AGGCATGG others(875): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG02055.hp1 HG02717.hp1 others(3): Show |
a0002 | a0002c0003a0002c0006a0002c0018 | a0002c0003t0001a0002c0006t0002a0002c0006t0003others(1): Show | a0002c0003t0001g0318a0002c0003t0001g0326a0002c0006t0002g0296others(3): Show | 6 | 372 | 0.0161 | -882 | c.172 others(17): Show |
TXNRD2 | ENSG00000184470.21 | transcript | ENST00000400521.7 | protein_coding | 2/17 | chr22 | TogoVar | ||||||
| ULBP2_chr6_149937014_149954235 | 149943635 | AGGCCTTC others(875): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 HG03471.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0063a0001c0007t0001g0113a0001c0007t0001g0114 | 3 | 446 | 0.0067 | -882 | c.85+ others(14): Show |
ULBP2 | ENSG00000131015.5 | transcript | ENST00000367351.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CHCHD3_chr7_132779870_133087090 | 132984898 | TGGGGGGG others(874): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(136): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0015others(136): Show | 139 | 310 | 0.4484 | -881 | c.252 others(18): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
| SRGAP2B_chr1_144882288_145100328 | 144883001 | AGGGGGCA others(874): Show |
A | downstream_gene_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 56 | 0.0179 | -881 | c.*82 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4286 | chr1 | TogoVar | ||||||
| CHCHD3_chr7_132779870_133087090 | 132984861 | CCCCCCAC others(873): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 310 | 0.0032 | -880 | c.252 others(18): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | ||||||
| CHEK2_chr22_28682743_28746820 | 28691294 | ACATGGTG others(873): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 384 | 0.0026 | -880 | c.146 others(19): Show |
CHEK2 | ENSG00000183765.24 | transcript | ENST00000404276.6 | protein_coding | 13/14 | chr22 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178394846 | AGCATTCG others(873): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp1 HG02630.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0122a0001c0001t0003g0123a0001c0001t0003g0142others(11): Show | 14 | 236 | 0.0593 | -880 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178395775 | TGTCCTCC others(873): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0061 | 1 | 236 | 0.0042 | -880 | c.362 others(19): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL6A5_chr3_130340672_130489846 | 130413180 | CTCCCATG others(873): Show |
C | exon_loss_variant others(4): Show |
HIGH | HG00642.hp2 HG01515.hp1 |
a0027 | a0027c0089a0027c0090 | a0027c0089t0002a0027c0090t0002 | a0027c0089t0002g0200a0027c0090t0002g0280 | 2 | 292 | 0.0069 | -880 | c.466 others(15): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 21/41 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DHRSX_chrX_2214506_2505976 | 2279451 | AGAGGAGG others(873): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 50 | 0.0200 | -880 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| DIRAS1_chr19_2709567_2726372 | 2713078 | CCCTCACT others(873): Show |
C | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0045 | a0001c0002t0045g0085 | 1 | 412 | 0.0024 | -880 | c.*32 others(11): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1488 | chr19 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 953163 | GCACGTCC others(873): Show |
G | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 294 | 0.0034 | -880 | c.503 others(16): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(873): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | -880 | c.*27 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar | ||||||
| PGLYRP2_chr19_15463645_15484501 | 15472355 | CGAGGTGG others(873): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 382 | 0.0026 | -880 | c.113 others(18): Show |
PGLYRP2 | ENSG00000161031.13 | transcript | ENST00000340880.5 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
| PLIN3_chr19_4833341_4872667 | 4835478 | GCCCAGCT others(873): Show |
G | downstream_gene_variant | MODIFIER | NA18943.hp2 NA19001.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0198a0001c0003t0001g0228 | 2 | 446 | 0.0045 | -880 | c.*28 others(11): Show |
PLIN3 | ENSG00000105355.9 | transcript | ENST00000221957.9 | protein_coding | 2862 | chr19 | TogoVar | ||||||
| RPL27_chr17_42993419_43007959 | 43001380 | CTTTGGGA others(873): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG03041.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 356 | 0.0112 | -880 | c.252 others(16): Show |
RPL27 | ENSG00000131469.15 | transcript | ENST00000253788.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SLC7A1_chr13_29504414_29600688 | 29558318 | TGAATGTG others(873): Show |
T | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0307 | 1 | 330 | 0.0030 | -880 | c.-11 others(19): Show |
SLC7A1 | ENSG00000139514.13 | transcript | ENST00000380752.10 | protein_coding | 1/12 | chr13 | TogoVar | ||||||
| TICAM1_chr19_4810932_4836712 | 4835478 | GCCCAGCT others(873): Show |
G | upstream_gene_variant | MODIFIER | NA19001.hp2 NA19003.hp1 |
a0002 | a0002c0004a0002c0010 | a0002c0004t0003a0002c0010t0003 | a0002c0004t0003g0006a0002c0010t0003g0187 | 2 | 412 | 0.0049 | -880 | c.-48 others(11): Show |
TICAM1 | ENSG00000127666.11 | transcript | ENST00000248244.6 | protein_coding | 3767 | chr19 | TogoVar | ||||||
| ZCCHC2_chr18_62518025_62583579 | 62580794 | CAGGTGGA others(873): Show |
C | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0043 | a0001c0001t0024a0001c0043t0025 | a0001c0001t0024g0204a0001c0043t0025g0055 | 2 | 312 | 0.0064 | -880 | c.*42 others(11): Show |
ZCCHC2 | ENSG00000141664.10 | transcript | ENST00000269499.10 | protein_coding | 2216 | chr18 | TogoVar | ||||||
| CCDC200_chr17_43216420_43233623 | 43232744 | GACCAGAA others(872): Show |
G | upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 334 | 0.0030 | -879 | c.-50 others(11): Show |
CCDC200 | ENSG00000236383.9 | transcript | ENST00000636331.2 | protein_coding | 4122 | chr17 | TogoVar | ||||||
| CRB1_chr1_197263252_197483455 | 197299720 | TTAAAACC others(872): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0185 | 1 | 186 | 0.0054 | -879 | c.71- others(17): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
| KIR3DL1_chr19_54811468_54835778 | 54833548 | GGTGGAGA others(872): Show |
G | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp2 others(31): Show |
a0001a0008a0015others(1): Show | a0001c0006a0008c0009a0015c0018others(1): Show | a0001c0006t0001a0008c0009t0001a0015c0018t0001others(1): Show | a0001c0006t0001g0006a0001c0006t0001g0118a0001c0006t0001g0119others(5): Show | 34 | 395 | 0.0861 | -879 | c.*32 others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 2771 | chr19 | TogoVar | ||||||
| ABI3BP_chr3_100744156_100998421 | 100802785 | CATTTTTA others(871): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(19): Show |
a0004a0006a0023others(3): Show | a0004c0007a0004c0015a0004c0049others(6): Show | a0004c0007t0001a0004c0007t0004a0004c0007t0038others(10): Show | a0004c0007t0001g0073a0004c0007t0001g0089a0004c0007t0001g0094others(19): Show | 22 | 238 | 0.0924 | -878 | c.375 others(19): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 51/67 | chr3 | TogoVar | ||||||
| BANP_chr16_87946434_88082316 | 87998543 | TCCAGACA others(871): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG04204.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0150a0001c0004t0004g0348 | 2 | 352 | 0.0057 | -878 | c.363 others(17): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNN2_chr19_1021608_1044065 | 1034303 | CGGGAGCG others(871): Show |
C | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 390 | 0.0026 | -878 | c.390 others(16): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |