| view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| USP17L2_chr8_12131435_12143849 | 12135448 | GTGCAAAA others(4723): Show |
G | transcript_ablation | HIGH | HG04199.hp2 | a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 1 | 195 | 0.0051 | -4730 | c.-14 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| NBPF19_chr1_149470045_149561361 | 149524216 | GTGTGTGT others(4722): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 NA18954.hp2 NA18962.hp2 others(1): Show |
a0158a0183a0190others(1): Show | a0158c0084a0183c0041a0190c0049others(1): Show | a0158c0084t0001a0183c0041t0002a0190c0049t0002others(1): Show | a0158c0084t0001g0049 a0183c0041t0002g0246 a0190c0049t0002g0244 others(1): Show |
4 | 276 | 0.0145 | -4729 | c.678 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 57/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DLGAP1_chr18_3491032_4460307 | 3765969 | ATAAAAAA others(4721): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0074 | 1 | 80 | 0.0125 | -4728 | c.117 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146068386 | AGAGGAGA others(4721): Show |
A | exon_loss_variant | HIGH | HG02040.hp2 | a0067 | a0067c0065 | a0067c0065t0019 | a0067c0065t0019g0061 | 1 | 283 | 0.0035 | -4728 | c.101 others(19): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 87/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4721): Show |
G | exon_loss_variant | HIGH | HG03669.hp2 | a0041 | a0041c0027 | a0041c0027t0004 | a0041c0027t0004g0241 | 1 | 283 | 0.0035 | -4728 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
| USP17L1_chr8_7327387_7338979 | 7332253 | TTGGTGGG others(4721): Show |
T | transcript_ablation | HIGH | HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 16 | 416 | 0.0385 | -4728 | c.-13 others(10): Show |
p.0? | USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| USP17L4_chr8_7332115_7343707 | 7332253 | TTGGTGGG others(4721): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG02451.hp2 others(10): Show |
a0001a0010a0011 | a0001c0001a0010c0015a0010c0022others(1): Show | a0001c0001t0000a0010c0015t0000a0010c0022t0000others(1): Show | a0001c0001t0000g0000 a0010c0015t0000g0000 a0010c0022t0000g0000 others(1): Show |
13 | 390 | 0.0333 | -4728 | c.-48 others(10): Show |
USP17L4 | ENSG00000236125.3 | transcript | ENST00000526929.1 | protein_coding | 4861 | chr8 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146081897 | CCCTTGAG others(4720): Show |
C | exon_loss_variant | HIGH | HG00558.hp1 | a0199 | a0199c0202 | a0199c0202t0004 | a0199c0202t0004g0234 | 1 | 283 | 0.0035 | -4727 | c.810 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 70/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146116784 | CAGCGAAG others(4719): Show |
C | exon_loss_variant | HIGH | HG06807.hp2 NA19043.hp1 |
a0208a0209 | a0208c0222a0209c0223 | a0208c0222t0007a0209c0223t0007 | a0208c0222t0007g0264 a0209c0223t0007g0265 |
2 | 283 | 0.0071 | -4726 | c.274 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 25/90 | 3512/13030 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146083064 | ACACACAT others(4718): Show |
A | exon_loss_variant | HIGH | HG00544.hp1 | a0181 | a0181c0193 | a0181c0193t0004 | a0181c0193t0004g0238 | 1 | 283 | 0.0035 | -4725 | c.788 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 68/90 | chr1 | TogoVar | |||||||
| NBPF19_chr1_149470045_149561361 | 149524220 | GTGTGTGT others(4718): Show |
G | exon_loss_variant | HIGH | NA18963.hp2 | a0188 | a0188c0051 | a0188c0051t0002 | a0188c0051t0002g0252 | 1 | 276 | 0.0036 | -4725 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146114021 | GACACACA others(4717): Show |
G | exon_loss_variant | HIGH | HG00597.hp2 | a0145 | a0145c0152 | a0145c0152t0003 | a0145c0152t0003g0193 | 1 | 283 | 0.0035 | -4724 | c.303 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/90 | chr1 | TogoVar | |||||||
| RABGAP1L_chr1_174154520_175000308 | 174488176 | TGATTGAA others(4717): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0076 | 1 | 272 | 0.0037 | -4724 | c.171 others(21): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 13/25 | chr1 | TogoVar | |||||||
| NBPF14_chr1_148526385_148601011 | 148555442 | CAGACAGA others(4716): Show |
C | exon_loss_variant | HIGH | HG02523.hp2 | a0106 | a0106c0160 | a0106c0160t0009 | a0106c0160t0009g0219 | 1 | 222 | 0.0045 | -4723 | c.455 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 42/71 | chr1 | TogoVar | |||||||
| NBPF19_chr1_149470045_149561361 | 149524222 | GTGTGTGT others(4716): Show |
G | exon_loss_variant | HIGH | NA18963.hp1 | a0100 | a0100c0145 | a0100c0145t0001 | a0100c0145t0001g0076 | 1 | 276 | 0.0036 | -4723 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146090475 | CAGAGAGA others(4715): Show |
C | exon_loss_variant | HIGH | HG02896.hp1 | a0152 | a0152c0174 | a0152c0174t0003 | a0152c0174t0003g0169 | 1 | 283 | 0.0035 | -4722 | c.669 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 59/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146114021 | GACACACA others(4715): Show |
G | exon_loss_variant | HIGH | HG02004.hp2 | a0180 | a0180c0197 | a0180c0197t0004 | a0180c0197t0004g0228 | 1 | 283 | 0.0035 | -4722 | c.303 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146084105 | GAGACAGA others(4714): Show |
G | exon_loss_variant | HIGH | NA19002.hp1 | a0151 | a0151c0173 | a0151c0173t0003 | a0151c0173t0003g0211 | 1 | 283 | 0.0035 | -4721 | c.771 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 67/90 | chr1 | TogoVar | |||||||
| USP17L4_chr8_7332115_7343707 | 7335742 | ATAACTGG others(4714): Show |
A | transcript_ablation | HIGH | HG03225.hp1 HG03540.hp1 |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 2 | 390 | 0.0051 | -4721 | c.-13 others(11): Show |
p.0? | USP17L4 | ENSG00000236125.3 | transcript | ENST00000526929.1 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
| PDGFD_chr11_103902189_104169147 | 103981010 | CCTCTGCT others(4712): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01123.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0020a0001c0002t0001 | a0001c0001t0003g0019 a0001c0001t0003g0128 a0001c0001t0020g0197 others(1): Show |
4 | 200 | 0.0200 | -4719 | c.510 others(19): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
| NUMB_chr14_73270216_73463546 | 73429115 | TAATCCCA others(4711): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0198 a0001c0001t0002g0197 |
2 | 322 | 0.0062 | -4718 | c.-23 others(21): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 1/12 | chr14 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146086366 | GTCATGAT others(4710): Show |
G | exon_loss_variant | HIGH | HG02738.hp1 NA19064.hp2 |
a0144a0157 | a0144c0188a0157c0165 | a0144c0188t0003a0157c0165t0003 | a0144c0188t0003g0206 a0157c0165t0003g0190 |
2 | 283 | 0.0071 | -4717 | c.737 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 64/90 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146090906 | CTTCCTCT others(4709): Show |
C | exon_loss_variant | HIGH | HG02683.hp2 | a0090 | a0090c0097 | a0090c0097t0006 | a0090c0097t0006g0141 | 1 | 283 | 0.0035 | -4716 | c.667 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 58/90 | 7436/13030 | chr1 | TogoVar | ||||||
| NBPF10_chr1_146059711_146149804 | 146104595 | CACACACA others(4709): Show |
C | exon_loss_variant | HIGH | HG01243.hp1 | a0190 | a0190c0209 | a0190c0209t0013 | a0190c0209t0013g0259 | 1 | 283 | 0.0035 | -4716 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
| TMLHE_chrX_155484011_155617952 | 155551536 | ATCTGTTG others(4709): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0045a0001c0001t0046 | a0001c0001t0012g0211 a0001c0001t0045g0209 a0001c0001t0046g0210 |
3 | 216 | 0.0139 | -4716 | c.-1- others(16): Show |
TMLHE | ENSG00000185973.12 | transcript | ENST00000334398.8 | protein_coding | 1/7 | chrX | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146104597 | CACACACA others(4707): Show |
C | exon_loss_variant | HIGH | HG02735.hp1 HG03669.hp1 |
a0038 | a0038c0029 | a0038c0029t0004 | a0038c0029t0004g0260 a0038c0029t0004g0263 |
2 | 283 | 0.0071 | -4714 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
| NBPF19_chr1_149470045_149561361 | 149543210 | GTGTGTCT others(4706): Show |
G | exon_loss_variant | HIGH | HG03098.hp2 | a0116 | a0116c0150 | a0116c0150t0001 | a0116c0150t0001g0014 | 1 | 276 | 0.0036 | -4713 | c.954 others(18): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 80/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TMBIM4_chr12_66130846_66174996 | 66131757 | TGGTAAAC others(4706): Show |
T | splice_region_variant | LOW | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0091 | 1 | 352 | 0.0028 | -4713 | c.*14 others(11): Show |
TMBIM4 | ENSG00000155957.19 | transcript | ENST00000358230.8 | protein_coding | 7/7 | chr12 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146104603 | CACACACA others(4701): Show |
C | exon_loss_variant | HIGH | HG00597.hp1 | a0100 | a0100c0112 | a0100c0112t0002 | a0100c0112t0002g0109 | 1 | 283 | 0.0035 | -4708 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
| NBPF14_chr1_148526385_148601011 | 148548728 | GGCAATGA others(4701): Show |
G | exon_loss_variant | HIGH | NA18973.hp2 | a0055 | a0055c0139 | a0055c0139t0001 | a0055c0139t0001g0192 | 1 | 222 | 0.0045 | -4708 | c.568 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 51/71 | chr1 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146104605 | CACACACA others(4699): Show |
C | exon_loss_variant | HIGH | HG03704.hp2 | a0202 | a0202c0220 | a0202c0220t0012 | a0202c0220t0012g0258 | 1 | 283 | 0.0035 | -4706 | c.450 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 41/90 | chr1 | TogoVar | |||||||
| DAP3_chr1_155684091_155744010 | 155689968 | ATAGGGAA others(4698): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp2 others(45): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0036 a0001c0001t0003g0065 a0001c0001t0003g0066 others(43): Show |
48 | 288 | 0.1667 | -4705 | c.-8+ others(14): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
| FXYD5_chr19_35149735_35174881 | 35170176 | GTCGAGAC others(4698): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00609.hp1 others(49): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0006t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0028 others(28): Show |
52 | 462 | 0.1126 | -4705 | c.*56 others(10): Show |
FXYD5 | ENSG00000089327.15 | transcript | ENST00000392219.7 | protein_coding | 296 | chr19 | TogoVar | |||||||
| GRIA4_chr11_105605073_105987090 | 105830983 | CACACACA others(4692): Show |
C | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 184 | 0.0054 | -4699 | c.488 others(19): Show |
GRIA4 | ENSG00000152578.15 | transcript | ENST00000282499.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| AK8_chr9_132720578_132883284 | 132747303 | GCTAATTT others(4691): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0159 |
3 | 266 | 0.0113 | -4698 | c.112 others(21): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
| DACH2_chrX_86143451_86837602 | 86350168 | AAAAACAA others(4685): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00609.hp1 others(125): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(125): Show |
128 | 166 | 0.7711 | -4692 | c.489 others(19): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| LRRC4C_chr11_40109209_41464652 | 40623241 | TGCAATAT others(4685): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 48 | 0.0208 | -4692 | c.-27 others(21): Show |
LRRC4C | ENSG00000148948.8 | transcript | ENST00000528697.6 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
| CELA3B_chr1_21972022_21994354 | 21989672 | ATCTGCAG others(4675): Show |
A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG03710.hp1 NA18967.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0017 a0002c0002t0001g0155 |
5 | 444 | 0.0113 | -4682 | c.*39 others(10): Show |
CELA3B | ENSG00000219073.8 | transcript | ENST00000337107.11 | protein_coding | 319 | chr1 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277571 | AGAGGGAG others(4675): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018 | 1 | 50 | 0.0200 | -4682 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| CHPT1_chr12_101692640_101734074 | 101708628 | GACAGGGT others(4673): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00597.hp1 others(41): Show |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0001a0003c0006t0001a0003c0006t0004 | a0001c0004t0001g0005 a0001c0004t0001g0009 a0001c0004t0001g0010 others(21): Show |
44 | 402 | 0.1095 | -4680 | c.274 others(16): Show |
CHPT1 | ENSG00000111666.11 | transcript | ENST00000229266.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2277616 | AAGAGAGA others(4673): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0004a0010 | a0004c0004a0010c0015 | a0004c0004t0009a0010c0015t0007 | a0004c0004t0009g0032 a0010c0015t0007g0036 |
2 | 50 | 0.0400 | -4680 | c.388 others(18): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| DLG1_chr3_197037560_197303612 | 197207701 | CATATAAA others(4668): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp2 others(35): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0004a0002c0002t0003a0002c0002t0004others(3): Show | a0001c0001t0004g0317 a0002c0002t0003g0003 a0002c0002t0003g0226 others(35): Show |
38 | 332 | 0.1145 | -4675 | c.319 others(19): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
| CCDC81_chr11_86369887_86428106 | 86402104 | TAGCCTGG others(4663): Show |
T | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0263 | 1 | 404 | 0.0025 | -4670 | c.881 others(16): Show |
CCDC81 | ENSG00000149201.10 | transcript | ENST00000445632.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TTC6_chr14_37590629_37847717 | 37663941 | ATAAGGGA others(4657): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01517.hp2 HG03654.hp2 |
a0017a0018a0019 | a0017c0024a0018c0025a0019c0023 | a0017c0024t0001a0018c0025t0001a0019c0023t0001 | a0017c0024t0001g0161 a0018c0025t0001g0160 a0019c0023t0001g0164 |
3 | 220 | 0.0136 | -4664 | c.940 others(19): Show |
TTC6 | ENSG00000139865.17 | transcript | ENST00000553443.6 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| AP3S2_chr15_89825599_89898994 | 89846963 | GCCTGGCC others(4655): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0028 | 1 | 312 | 0.0032 | -4662 | c.346 others(18): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
| UBE2E2_chr3_23198327_23596794 | 23472513 | AGCAAAGT others(4654): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0044 | 1 | 336 | 0.0030 | -4661 | c.228 others(19): Show |
UBE2E2 | ENSG00000182247.11 | transcript | ENST00000396703.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235540 | TCCCCTCT others(4652): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03209.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0019a0001c0003t0060 | a0001c0001t0019g0038 a0001c0003t0060g0104 |
2 | 106 | 0.0189 | -4659 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| PEX7_chr6_136817592_136918934 | 136847120 | GTTGGCTG others(4652): Show |
G | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 330 | 0.0030 | -4659 | c.526 others(16): Show |
PEX7 | ENSG00000112357.14 | transcript | ENST00000318471.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1529635 | AATCCCCG others(4651): Show |
A | intron_variant | MODIFIER | HG01934.hp1 HG01975.hp1 HG02004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0080 a0001c0001t0001g0094 a0001c0001t0002g0039 others(1): Show |
4 | 130 | 0.0308 | -4658 | c.261 others(20): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| TNRC6A_chr16_24724651_24831218 | 24784293 | TGCCCAGC others(4639): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0266 | 1 | 352 | 0.0028 | -4646 | c.590 others(16): Show |
TNRC6A | ENSG00000090905.19 | transcript | ENST00000395799.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |