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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AZU1_chr19_822837_837018 | 835481 | T | TGCGGCCC others(755): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 391 | 0.0026 | 762 | c.*36 others(773): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(755): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0007t0002 | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 others(1): Show |
6 | 380 | 0.0158 | 762 | c.347 others(779): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(755): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188 | 1 | 380 | 0.0026 | 762 | c.347 others(779): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(755): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(66): Show |
a0001a0007a0008 | a0001c0001a0007c0014a0008c0013 | a0001c0001t0001a0001c0001t0002a0007c0014t0002others(1): Show | a0001c0001t0001g0198 a0001c0001t0002g0009 a0001c0001t0002g0023 others(52): Show |
69 | 380 | 0.1816 | 762 | c.347 others(779): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CCDC136_chr7_128786968_128827130 | 128798317 | T | TCTTGGCT others(755): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0161 a0001c0001t0002g0162 |
2 | 380 | 0.0053 | 762 | c.347 others(779): Show |
CCDC136 | ENSG00000128596.17 | transcript | ENST00000297788.9 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11284413 | C | CTGTGGTG others(755): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0053 | 1 | 194 | 0.0052 | 762 | c.842 others(779): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(755): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0222 | 1 | 236 | 0.0042 | 762 | c.342 others(781): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHRNA4_chr20_63338223_63366349 | 63361431 | G | GGGAGGGG others(755): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0102 | 1 | 168 | 0.0060 | 762 | c.-26 others(771): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 83 | chr20 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45501003 | T | TTGGGTGT others(755): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0279 | 1 | 292 | 0.0034 | 762 | c.268 others(781): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255704 | G | GGGCAGGC others(755): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0214 | 1 | 344 | 0.0029 | 762 | c.85- others(779): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287061 | A | ACTATGTA others(755): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 448 | 0.0022 | 762 | c.51+ others(777): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRIM1_chr2_36350778_36556135 | 36505307 | A | AAATGACA others(755): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0008 | a0003c0008t0073 | a0003c0008t0073g0140 | 1 | 324 | 0.0031 | 762 | c.150 others(781): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(755): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0006 | a0001c0006t0035 | a0001c0006t0035g0155 | 1 | 230 | 0.0044 | 762 | c.724 others(781): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(755): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02630.hp2 HG03927.hp2 |
a0001a0004a0049 | a0001c0002a0004c0050a0049c0039 | a0001c0002t0002a0004c0050t0001a0049c0039t0001 | a0001c0002t0002g0096 a0004c0050t0001g0136 a0049c0039t0001g0018 |
3 | 170 | 0.0177 | 762 | c.101 others(781): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911540 | A | ACTGTCCT others(755): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0065 | a0005c0065t0001 | a0005c0065t0001g0042 | 1 | 170 | 0.0059 | 762 | c.101 others(781): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438426 | A | AGGAGGAG others(755): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0178 | a0002c0178t0001 | a0002c0178t0001g0150 | 1 | 252 | 0.0040 | 762 | c.118 others(781): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400013 | T | TCACCATC others(755): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0196 | 1 | 256 | 0.0039 | 762 | c.323 others(779): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377723 | T | TGGAGGAA others(755): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0174 | 1 | 384 | 0.0026 | 762 | c.215 others(779): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706405 | G | GATAGATA others(755): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0036 | 1 | 292 | 0.0034 | 762 | c.228 others(779): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706405 | G | GATAGATA others(755): Show |
upstream_gene_variant | MODIFIER | HG03041.hp2 | a0010 | a0010c0099 | a0010c0099t0017 | a0010c0099t0017g0362 | 1 | 369 | 0.0027 | 762 | c.-49 others(773): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4795 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706405 | G | GATAGATA others(755): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0039 | a0039c0096 | a0039c0096t0001 | a0039c0096t0001g0308 | 1 | 369 | 0.0027 | 762 | c.-49 others(773): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4795 | chr4 | TogoVar | |||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(755): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0172 a0001c0002t0001g0330 |
2 | 374 | 0.0054 | 762 | c.-51 others(773): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(755): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 138 | 0.0073 | 762 | c.123 others(783): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626003 | T | TGGGGGTC others(755): Show |
intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 400 | 0.0025 | 762 | c.-5+ others(775): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626032 | T | TGGGGGTC others(755): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 400 | 0.0025 | 762 | c.-5+ others(775): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(755): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0082 | 1 | 350 | 0.0029 | 762 | c.94- others(775): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44404776 | T | TGTGTTTG others(755): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0071 others(47): Show |
52 | 322 | 0.1615 | 762 | c.50- others(777): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(755): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0058 a0001c0001t0001g0109 a0001c0001t0001g0122 others(15): Show |
18 | 274 | 0.0657 | 762 | c.804 others(779): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(755): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 274 | 0.0037 | 762 | c.804 others(779): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(755): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 274 | 0.0037 | 762 | c.804 others(779): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152796 | T | TCCACCAC others(755): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 274 | 0.0037 | 762 | c.804 others(779): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IFFO2_chr1_18899280_18961676 | 18925816 | A | ATGGATGG others(755): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 376 | 0.0027 | 762 | c.666 others(779): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(755): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0190 | 1 | 323 | 0.0031 | 762 | c.-26 others(773): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(755): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 |
3 | 334 | 0.0090 | 762 | c.369 others(779): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(755): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0269 a0001c0001t0002g0305 a0001c0001t0002g0306 |
3 | 334 | 0.0090 | 762 | c.369 others(779): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(755): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 312 | 0.0032 | 762 | c.-41 others(777): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322672 | T | TTATATAT others(755): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 | 1 | 242 | 0.0041 | 762 | c.174 others(781): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(755): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 2 | 370 | 0.0054 | 762 | c.-27 others(773): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409027 | C | CCTCTCCC others(755): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 370 | 0.0027 | 762 | c.-27 others(773): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2693 | chr12 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(755): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0099 | 1 | 186 | 0.0054 | 762 | c.956 others(779): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(755): Show |
intron_variant | MODIFIER | HG02004.hp2 NA20752.hp2 |
a0001a0101 | a0001c0005a0101c0105 | a0001c0005t0001a0101c0105t0001 | a0001c0005t0001g0141 a0101c0105t0001g0140 |
2 | 186 | 0.0108 | 762 | c.956 others(779): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(755): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0006 | 1 | 86 | 0.0116 | 762 | c.683 others(781): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507611 | C | CAGGATTT others(755): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 260 | 0.0039 | 762 | c.624 others(779): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610344 | C | CGGGTGAG others(755): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 260 | 0.0039 | 762 | c.717 others(779): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(755): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0020 | a0002c0020t0016 | a0002c0020t0016g0010 | 1 | 278 | 0.0036 | 762 | c.115 others(779): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(755): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0031 | a0001c0031t0020 | a0001c0031t0020g0253 | 1 | 278 | 0.0036 | 762 | c.115 others(779): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(755): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0091 | 1 | 278 | 0.0036 | 762 | c.115 others(779): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGAGGG others(755): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0175 | 1 | 272 | 0.0037 | 762 | c.250 others(777): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(755): Show |
downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 762 | c.*58 others(773): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(755): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0004 | 1 | 24 | 0.0417 | 762 | c.326 others(785): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |