view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGAM_chr16_31254975_31337877 | 31272463 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 244 | 0.0041 | 18 | c.704 others(33): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31274610 | A | ATTTATTT others(11): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0136 | 1 | 244 | 0.0041 | 18 | c.859 others(33): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 8/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGAM_chr16_31254975_31337877 | 31302933 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 244 | 0.0041 | 18 | c.170 others(37): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 14/29 | chr16 | TogoVar | |||||||
ITGAV_chr2_186585056_186685901 | 186625678 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 308 | 0.0033 | 18 | c.523 others(31): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01258.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0193a0001c0001t0001g0211a0001c0001t0002g0040 | 3 | 308 | 0.0097 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028a0001c0001t0002g0039a0001c0001t0002g0048others(2): Show | 5 | 308 | 0.0162 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0274 | 2 | 308 | 0.0065 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 2 | 308 | 0.0065 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0218a0001c0001t0018g0288 | 2 | 308 | 0.0065 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAV_chr2_186585056_186685901 | 186668216 | A | ATATATTT others(11): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 308 | 0.0033 | 18 | c.243 others(35): Show |
ITGAV | ENSG00000138448.13 | transcript | ENST00000261023.8 | protein_coding | 24/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGAX_chr16_31350176_31387999 | 31372915 | A | AAACAACA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18954.hp1 NA18975.hp2 others(1): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0025 | a0001c0001t0002a0002c0002t0002a0014c0025t0002 | a0001c0001t0002g0162a0002c0002t0002g0025a0014c0025t0002g0244 | 4 | 350 | 0.0114 | 18 | c.236 others(35): Show |
ITGAX | ENSG00000140678.17 | transcript | ENST00000268296.9 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ITGB1_chr10_32895318_32963230 | 32947432 | C | CGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01517.hp2 HG01978.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0160a0001c0001t0004g0047a0001c0001t0004g0217others(5): Show | 8 | 424 | 0.0189 | 18 | c.-1+ others(35): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 1/15 | chr10 | TogoVar | |||||||
ITGB1_chr10_32895318_32963230 | 32961751 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG02723.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002a0001c0001t0004g0048a0001c0001t0004g0051 | 3 | 424 | 0.0071 | 18 | c.-36 others(29): Show |
ITGB1 | ENSG00000150093.20 | transcript | ENST00000302278.8 | protein_coding | 3522 | chr10 | TogoVar | |||||||
ITGB3_chr17_47248827_47318743 | 47308160 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01081.hp1 others(55): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0018others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(48): Show | 58 | 370 | 0.1568 | 18 | c.230 others(35): Show |
ITGB3 | ENSG00000259207.10 | transcript | ENST00000559488.7 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGB5_chr3_124756948_124892365 | 124798055 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0237 | 1 | 352 | 0.0028 | 18 | c.126 others(37): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 9/14 | chr3 | TogoVar | |||||||
ITGB5_chr3_124756948_124892365 | 124861495 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01255.hp1 |
a0004 | a0004c0005 | a0004c0005t0008 | a0004c0005t0008g0303a0004c0005t0008g0304a0004c0005t0008g0305 | 3 | 352 | 0.0085 | 18 | c.157 others(35): Show |
ITGB5 | ENSG00000082781.12 | transcript | ENST00000296181.9 | protein_coding | 2/14 | chr3 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101604881 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0247 | 1 | 306 | 0.0033 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604885 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0154 | 2 | 306 | 0.0065 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TACACATA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03834.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0251a0001c0006t0001g0259 | 2 | 306 | 0.0065 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03098.hp2 HG03195.hp1 others(1): Show |
a0001 | a0001c0005a0001c0011 | a0001c0005t0001a0001c0011t0001 | a0001c0005t0001g0036a0001c0005t0001g0138a0001c0011t0001g0038others(1): Show | 4 | 306 | 0.0131 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATACACA others(11): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01943.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0139a0001c0001t0002g0077others(2): Show | 5 | 306 | 0.0163 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02132.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0002a0001c0011t0001 | a0001c0001t0001g0094a0001c0001t0001g0146a0001c0001t0001g0175others(2): Show | 5 | 306 | 0.0163 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0239 | 1 | 306 | 0.0033 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITGBL1_chr13_101447675_101721446 | 101604887 | T | TGTATATA others(11): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG00642.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0119a0001c0001t0001g0127a0001c0001t0001g0128others(6): Show | 9 | 306 | 0.0294 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
ITGBL1_chr13_101447675_101721446 | 101689211 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01993.hp2 HG03669.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0063a0001c0001t0001g0073a0001c0001t0001g0085others(11): Show | 14 | 306 | 0.0458 | 18 | c.101 others(37): Show |
ITGBL1 | ENSG00000198542.15 | transcript | ENST00000376180.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7724570 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0306 | 1 | 380 | 0.0026 | 18 | c.984 others(35): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737819 | A | ATTATATA others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 NA18945.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0227 | 2 | 380 | 0.0053 | 18 | c.195 others(35): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
ITIH2_chr10_7698316_7754520 | 7738198 | A | ATATTATA others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18964.hp1 NA18975.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0213a0001c0001t0001g0214others(3): Show | 6 | 380 | 0.0158 | 18 | c.195 others(35): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | chr10 | TogoVar | |||||||
ITIH4_chr3_52807962_52835672 | 52828405 | T | TCCAAGCC others(11): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0076 | 1 | 390 | 0.0026 | 18 | c.251 others(33): Show |
ITIH4 | ENSG00000055955.17 | transcript | ENST00000266041.9 | protein_coding | 2/23 | chr3 | TogoVar | |||||||
ITIH4_chr3_52807962_52835672 | 52834652 | G | GCACACAC others(11): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0005 | 1 | 390 | 0.0026 | 18 | c.-40 others(29): Show |
ITIH4 | ENSG00000055955.17 | transcript | ENST00000266041.9 | protein_coding | 3981 | chr3 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7597044 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01261.hp2 others(8): Show |
a0000a0001a0002others(2): Show | a0000c0026a0001c0001a0001c0006others(5): Show | a0000c0026t0007a0001c0001t0001a0001c0006t0001others(6): Show | a0000c0026t0007g0068a0001c0001t0001g0093a0001c0001t0001g0257others(8): Show | 11 | 342 | 0.0322 | 18 | c.940 others(37): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628829 | G | GTGTGTCC others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01346.hp2 others(41): Show |
a0000a0001a0002others(7): Show | a0000c0038a0000c0042a0001c0001others(13): Show | a0000c0038t0004a0000c0042t0033a0001c0001t0001others(25): Show | a0000c0038t0004g0276a0000c0042t0033g0275a0001c0001t0001g0185others(41): Show | 44 | 342 | 0.1287 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628855 | C | CTGTTGTA others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0000 | a0000c0034 | a0000c0034t0004 | a0000c0034t0004g0313 | 1 | 342 | 0.0029 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628855 | C | CTGTTGTA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02145.hp1 |
a0000a0001a0002 | a0000c0057a0001c0001a0002c0004 | a0000c0057t0035a0001c0001t0042a0002c0004t0003 | a0000c0057t0035g0191a0001c0001t0042g0261a0002c0004t0003g0259 | 3 | 342 | 0.0088 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628941 | G | GTCCATGT others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 HG04115.hp1 NA19005.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0002 | a0001c0001t0001a0002c0004t0001a0003c0002t0001others(1): Show | a0001c0001t0001g0274a0002c0004t0001g0250a0003c0002t0001g0273others(1): Show | 4 | 342 | 0.0117 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628941 | G | GTCCATGT others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01346.hp2 others(65): Show |
a0000a0001a0002others(10): Show | a0000c0030a0000c0034a0000c0038others(29): Show | a0000c0030t0015a0000c0034t0004a0000c0038t0004others(45): Show | a0000c0030t0015g0010a0000c0030t0015g0338a0000c0034t0004g0313others(65): Show | 68 | 342 | 0.1988 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7628954 | C | CGTGTATC others(11): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0003 | a0003c0058 | a0003c0058t0052 | a0003c0058t0052g0278 | 1 | 342 | 0.0029 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629132 | A | AGCATGTG others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG01346.hp2 others(69): Show |
a0000a0001a0002others(10): Show | a0000c0030a0000c0034a0000c0038others(30): Show | a0000c0030t0015a0000c0034t0004a0000c0038t0004others(48): Show | a0000c0030t0015g0010a0000c0030t0015g0338a0000c0034t0004g0313others(69): Show | 72 | 342 | 0.2105 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629521 | G | GTGTTGTA others(11): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG00741.hp1 others(119): Show |
a0000a0001a0002others(15): Show | a0000c0011a0000c0013a0000c0014others(45): Show | a0000c0011t0007a0000c0011t0030a0000c0011t0031others(75): Show | a0000c0011t0007g0084a0000c0011t0030g0013a0000c0011t0031g0260others(119): Show | 122 | 342 | 0.3567 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7629521 | G | GTGTTGTA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0000a0001a0002others(8): Show | a0000c0026a0001c0001a0001c0023others(13): Show | a0000c0026t0007a0001c0001t0001a0001c0001t0010others(20): Show | a0000c0026t0007g0068a0001c0001t0001g0017a0001c0001t0001g0019others(61): Show | 65 | 342 | 0.1901 | 18 | c.652 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 5/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7644371 | T | TATATATC others(11): Show |
intron_variant | MODIFIER | NA18954.hp2 NA18980.hp2 NA19058.hp1 others(1): Show |
a0003a0011a0017others(1): Show | a0003c0002a0011c0029a0017c0074others(1): Show | a0003c0002t0026a0011c0029t0001a0017c0074t0001others(1): Show | a0003c0002t0026g0245a0011c0029t0001g0244a0017c0074t0001g0243others(1): Show | 4 | 342 | 0.0117 | 18 | c.136 others(35): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | |||||||
ITK_chr5_157175840_157260185 | 157233932 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01517.hp2 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0139a0001c0001t0001g0155a0001c0001t0001g0285others(7): Show | 10 | 348 | 0.0287 | 18 | c.768 others(35): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233963 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 348 | 0.0029 | 18 | c.768 others(35): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ITLN1_chr1_160871540_160890180 | 160873767 | C | CATATATA others(11): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 428 | 0.0023 | 18 | c.*28 others(29): Show |
ITLN1 | ENSG00000179914.5 | transcript | ENST00000326245.4 | protein_coding | 2772 | chr1 | TogoVar | |||||||
ITLN2_chr1_160940025_160959809 | 160942871 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01167.hp1 others(24): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(6): Show | 27 | 480 | 0.0563 | 18 | c.*22 others(29): Show |
ITLN2 | ENSG00000158764.7 | transcript | ENST00000368029.4 | protein_coding | 2153 | chr1 | TogoVar | |||||||
ITPA_chr20_3204498_3228860 | 3207696 | A | AAACAACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00558.hp2 others(59): Show |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0009a0001c0002t0001g0012others(43): Show | 62 | 414 | 0.1498 | 18 | c.-18 others(29): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 1801 | chr20 | TogoVar | |||||||
ITPR1_chr3_4488348_4852506 | 4566604 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0042 | a0001c0042t0010 | a0001c0042t0010g0014 | 1 | 176 | 0.0057 | 18 | c.163 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609051 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01934.hp1 NA18974.hp2 |
a0001 | a0001c0022a0001c0063a0001c0079 | a0001c0022t0002a0001c0063t0001a0001c0079t0002 | a0001c0022t0002g0078a0001c0063t0001g0108a0001c0079t0002g0105 | 3 | 176 | 0.0171 | 18 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609051 | A | AATATGTA others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0032 | 1 | 176 | 0.0057 | 18 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITPR1_chr3_4488348_4852506 | 4609089 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0049 | a0001c0049t0001 | a0001c0049t0001g0015 | 1 | 176 | 0.0057 | 18 | c.164 others(37): Show |
ITPR1 | ENSG00000150995.21 | transcript | ENST00000649015.2 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |