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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGB5_chr3_124756948_124892365 | 124807941 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01361.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0009a0001c0002t0003a0001c0002t0005others(2): Show | a0001c0001t0009g0243a0001c0002t0003g0122a0001c0002t0003g0252others(13): Show | 16 | 352 | 0.0455 | -7 | c.126 others(26): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124865473 | GCTTTTTT | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(9): Show | a0001c0001t0001g0334a0001c0001t0001g0339a0001c0001t0002g0331others(31): Show | 34 | 352 | 0.0966 | -7 | c.157 others(24): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124874306 | GAAAAAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(43): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(13): Show | a0001c0001t0001g0334a0001c0001t0001g0339a0001c0001t0002g0239others(43): Show | 46 | 352 | 0.1307 | -7 | c.71- others(20): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
ITGB8_chr7_20325900_20420754 | 20401081 | TCTCCTGC | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0034a0001c0001t0055a0001c0004t0018others(4): Show | a0001c0001t0034g0205a0001c0001t0055g0021a0001c0004t0018g0004others(4): Show | 8 | 342 | 0.0234 | -7 | c.128 others(24): Show |
ITGB8 | ENSG00000105855.10 | transcript | ENST00000222573.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101448363 | TAGGGAGC | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(39): Show | 42 | 306 | 0.1373 | -7 | c.-44 others(18): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 4311 | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101454399 | TCCCCCCC | T | intron_variant | MODIFIER | HG00735.hp1 HG02280.hp1 HG02451.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0137a0001c0001t0001g0139others(10): Show | 13 | 306 | 0.0425 | -7 | c.316 others(22): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101558083 | CAAAAAAA | C | intron_variant | MODIFIER | HG01169.hp1 HG02647.hp1 HG02809.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0200others(8): Show | 11 | 306 | 0.0360 | -7 | c.317 others(24): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101638317 | GAAGGTCA | G | intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0109a0001c0001t0001g0294 | 3 | 306 | 0.0098 | -7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101653856 | TTTTTTTG | T | intron_variant | MODIFIER | HG01074.hp1 HG02698.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0003 | a0001c0001t0001g0022a0001c0001t0001g0151a0002c0008t0003g0188 | 3 | 306 | 0.0098 | -7 | c.101 others(28): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITGBL1_chr13_101447675_101721446 | 101689211 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0001others(5): Show | a0001c0001t0002g0031a0001c0001t0002g0077a0001c0001t0002g0080others(24): Show | 27 | 306 | 0.0882 | -7 | c.101 others(26): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ITIH1_chr3_52772599_52797062 | 52781210 | TCTTCTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(2): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0061a0001c0001t0001g0062a0001c0001t0001g0180others(1): Show | 5 | 406 | 0.0123 | -7 | c.688 others(22): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737635 | TCTATAGA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0275 | 3 | 380 | 0.0079 | -7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737984 | CTATATAT | C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01975.hp1 others(1): Show |
a0001a0003 | a0001c0014a0003c0004 | a0001c0014t0001a0003c0004t0001 | a0001c0014t0001g0127a0003c0004t0001g0364a0003c0004t0001g0365others(1): Show | 4 | 380 | 0.0105 | -7 | c.195 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7746067 | TTAAAAAA | T | intron_variant | MODIFIER | HG01943.hp2 HG02056.hp1 HG02132.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0244others(7): Show | 10 | 380 | 0.0263 | -7 | c.258 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 19/20 | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7748521 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp1 HG01943.hp1 others(52): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0045a0001c0001t0001g0056others(48): Show | 55 | 380 | 0.1447 | -7 | c.269 others(24): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7644541 | TATATATG | T | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG03492.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0032a0002c0003others(5): Show | a0001c0006t0001a0001c0032t0001a0002c0003t0003others(5): Show | a0001c0006t0001g0057a0001c0006t0001g0089a0001c0032t0001g0277others(6): Show | 9 | 342 | 0.0263 | -7 | c.136 others(24): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233959 | ATATATTT | A | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02486.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0091a0001c0001t0001g0200others(8): Show | 11 | 348 | 0.0316 | -7 | c.768 others(24): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ITLN1_chr1_160871540_160890180 | 160881804 | GAAAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(244): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(33): Show | 247 | 428 | 0.5771 | -7 | c.405 others(22): Show |
ITLN1 | ENSG00000179914.5 | transcript | ENST00000326245.4 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48229672 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG01243.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0026a0001c0001t0002g0138others(16): Show | 28 | 338 | 0.0828 | -7 | c.-36 others(18): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | ||||||
ITPA_chr20_3204498_3228860 | 3214363 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01243.hp1 others(57): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0048a0001c0001t0001g0278a0001c0002t0001g0005others(43): Show | 60 | 414 | 0.1449 | -7 | c.263 others(22): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITPK1_chr14_92931914_93120925 | 92952510 | AGGGTTCT | A | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00642.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0003g0056a0001c0001t0005g0070a0001c0001t0005g0216others(19): Show | 22 | 243 | 0.0905 | -7 | c.671 others(22): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 8/10 | chr14 | TogoVar | ||||||
ITPKC_chr19_40712112_40745860 | 40714149 | AAGGTCTG | A | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0134a0001c0003t0004g0135a0001c0003t0004g0136others(1): Show | 4 | 388 | 0.0103 | -7 | c.-29 others(18): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 2962 | chr19 | TogoVar | ||||||
ITPKC_chr19_40712112_40745860 | 40730999 | GTTCAGGC | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00597.hp1 others(51): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0014a0001c0002t0016others(1): Show | a0001c0002t0001g0002a0001c0002t0001g0006a0001c0002t0001g0014others(25): Show | 54 | 388 | 0.1392 | -7 | c.146 others(26): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 3/6 | chr19 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4590174 | CTTTTTTT | C | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0005a0001c0002t0001a0001c0009t0001others(3): Show | a0001c0001t0005g0089a0001c0002t0001g0162a0001c0009t0001g0057others(4): Show | 7 | 176 | 0.0398 | -7 | c.164 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4619565 | GCCCTTTC | G | intron_variant | MODIFIER | HG03041.hp1 HG06807.hp2 NA20129.hp2 |
a0001 | a0001c0001a0001c0026a0001c0040 | a0001c0001t0020a0001c0026t0018a0001c0040t0001 | a0001c0001t0020g0123a0001c0026t0018g0117a0001c0040t0001g0049 | 3 | 176 | 0.0171 | -7 | c.164 others(24): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4711210 | CAAAAAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02523.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0004a0001c0007a0001c0008others(4): Show | a0001c0004t0021a0001c0007t0001a0001c0007t0002others(5): Show | a0001c0004t0021g0115a0001c0007t0001g0076a0001c0007t0002g0029others(5): Show | 8 | 176 | 0.0455 | -7 | c.499 others(24): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR1_chr3_4488348_4852506 | 4789601 | GTTTTTGT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(103): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(53): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(81): Show | a0001c0001t0001g0004a0001c0001t0001g0037a0001c0001t0001g0142others(103): Show | 106 | 176 | 0.6023 | -7 | c.680 others(26): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 52/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ITPR2_chr12_26330352_26838194 | 26556567 | TGTGTGTG | T | intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001a0003 | a0001c0001a0003c0032 | a0001c0001t0001a0003c0032t0009 | a0001c0001t0001g0045a0003c0032t0009g0049 | 2 | 142 | 0.0141 | -7 | c.482 others(24): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 35/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26768428 | AAAAAAAT | A | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp2 HG03195.hp1 others(3): Show |
a0001a0002 | a0001c0008a0001c0016a0001c0035others(2): Show | a0001c0008t0043a0001c0016t0042a0001c0035t0027others(2): Show | a0001c0008t0043g0111a0001c0016t0042g0107a0001c0035t0027g0026others(3): Show | 6 | 142 | 0.0423 | -7 | c.163 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | ||||||
ITPR2_chr12_26330352_26838194 | 26797682 | CTTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01070.hp1 others(10): Show |
a0001 | a0001c0013a0001c0025a0001c0026others(7): Show | a0001c0013t0002a0001c0013t0022a0001c0025t0024others(9): Show | a0001c0013t0002g0020a0001c0013t0022g0120a0001c0013t0022g0129others(10): Show | 13 | 142 | 0.0916 | -7 | c.93- others(22): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31521616 | TTCCCTCC | T | intron_variant | MODIFIER | HG00673.hp1 HG02165.hp2 NA18988.hp1 others(1): Show |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0002a0002c0001t0007a0003c0005t0003 | a0002c0001t0002g0209a0002c0001t0002g0211a0002c0001t0007g0191others(1): Show | 4 | 312 | 0.0128 | -7 | c.-98 others(24): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITPRID1_chr7_31509090_31661504 | 31599652 | TTTCTTTC | T | intron_variant | MODIFIER | HG01261.hp2 HG02280.hp1 HG02895.hp2 others(4): Show |
a0001a0007a0014 | a0001c0003a0007c0013a0014c0024 | a0001c0003t0001a0007c0013t0008a0014c0024t0006 | a0001c0003t0001g0036a0001c0003t0001g0042a0001c0003t0001g0049others(4): Show | 7 | 312 | 0.0224 | -7 | c.122 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31611592 | AATTCTAT | A | intron_variant | MODIFIER | HG01109.hp2 HG02132.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0011a0002c0001others(4): Show | a0001c0002t0002a0001c0011t0002a0002c0001t0002others(4): Show | a0001c0002t0002g0095a0001c0011t0002g0033a0002c0001t0002g0203others(5): Show | 8 | 312 | 0.0256 | -7 | c.122 others(28): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ITSN1_chr21_33637501_33904861 | 33755811 | CTCAGATA | C | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01243.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0028others(2): Show | a0001c0001t0019a0001c0001t0022a0001c0002t0015others(5): Show | a0001c0001t0019g0080a0001c0001t0022g0236a0001c0002t0015g0081others(6): Show | 9 | 242 | 0.0372 | -7 | c.724 others(22): Show |
ITSN1 | ENSG00000205726.15 | transcript | ENST00000381318.8 | protein_coding | 8/39 | chr21 | TogoVar | ||||||
IVD_chr15_40400795_40426308 | 40422585 | CTTTTTTT | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0055a0001c0001t0001g0104others(3): Show | 10 | 378 | 0.0265 | -7 | c.*43 others(18): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1278 | chr15 | TogoVar | ||||||
IWS1_chr2_127475812_127531489 | 127494067 | TTAGTTCA | T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0224 | 4 | 338 | 0.0118 | -7 | c.180 others(24): Show |
IWS1 | ENSG00000163166.15 | transcript | ENST00000295321.9 | protein_coding | 8/13 | chr2 | TogoVar | ||||||
IYD_chr6_150364012_150410969 | 150397573 | AAAAAAAC | A | intron_variant | MODIFIER | HG02027.hp1 HG02258.hp2 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0021a0002c0002t0038others(3): Show | a0001c0001t0002g0128a0001c0001t0002g0129a0001c0001t0002g0144others(7): Show | 12 | 414 | 0.0290 | -7 | c.688 others(22): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
IZUMO1_chr19_48735852_48751909 | 48747336 | TCCTCCGC | T | upstream_gene_variant | MODIFIER | HG02723.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010a0002c0002t0002g0030 | 6 | 410 | 0.0146 | -7 | c.-98 others(16): Show |
IZUMO1 | ENSG00000182264.9 | transcript | ENST00000332955.7 | protein_coding | 428 | chr19 | TogoVar | ||||||
JADE2_chr5_134520670_134588227 | 134587997 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01167.hp1 NA18955.hp2 NA18965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0105a0001c0001t0001g0107a0001c0001t0001g0157others(3): Show | 6 | 388 | 0.0155 | -7 | c.*86 others(18): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4771 | chr5 | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 46921696 | ACCTTGAT | A | intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0249 | 1 | 258 | 0.0039 | -7 | c.-12 others(24): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JADE3_chrX_46907421_47066242 | 46923393 | CTTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0038a0001c0001t0001g0039others(16): Show | 19 | 258 | 0.0736 | -7 | c.-12 others(26): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JADE3_chrX_46907421_47066242 | 46975714 | CTTTTTTT | C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 258 | 0.0039 | -7 | c.-11 others(24): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JADE3_chrX_46907421_47066242 | 47065028 | CTCTTTCT | C | downstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 258 | 0.0039 | -7 | c.*59 others(18): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 3787 | chrX | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105148002 | GGGCAGGT | G | intron_variant | MODIFIER | HG01496.hp2 HG02698.hp1 HG03492.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0053a0003c0003t0003g0116a0003c0003t0003g0130others(1): Show | 4 | 364 | 0.0110 | -7 | c.224 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 17/25 | chr14 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5015531 | TTCTTTTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(73): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(18): Show | a0001c0001t0003g0293a0001c0001t0005g0320a0001c0001t0017g0301others(72): Show | 76 | 364 | 0.2088 | -7 | c.-25 others(24): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
JAK2_chr9_4980272_5134948 | 5086371 | TTTTCCTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0003a0001c0005a0001c0009 | a0001c0003t0013a0001c0003t0030a0001c0003t0051others(3): Show | a0001c0003t0013g0030a0001c0003t0030g0207a0001c0003t0030g0208others(6): Show | 9 | 364 | 0.0247 | -7 | c.257 others(26): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 19/24 | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17828227 | TTGTTTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(90): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0001g0045others(80): Show | 93 | 414 | 0.2246 | -7 | c.320 others(26): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6156703 | TTGAAGGC | T | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp1 HG03195.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0039others(5): Show | 8 | 233 | 0.0343 | -7 | c.-14 others(28): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147667577 | CCTGGAGG | C | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0001a0001c0002t0033a0001c0002t0049others(2): Show | a0001c0002t0001g0089a0001c0002t0033g0088a0001c0002t0049g0092others(2): Show | 5 | 250 | 0.0200 | -7 | c.129 others(24): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 2/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132075923 | AGGTCTGT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(67): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0013others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0116a0001c0001t0002g0105a0001c0001t0002g0114others(67): Show | 70 | 158 | 0.4430 | -7 | c.-13 others(26): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |