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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HEXD_chr17_82413347_82447645 | 82443764 | G | GGCCACGG others(89): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 260 | 0.0038 | 96 | c.*13 others(107): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 1120 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82443764 | G | GGCCACGG others(89): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp2 others(86): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 others(54): Show |
89 | 348 | 0.2557 | 96 | c.*13 others(107): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 1120 | chr17 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82443764 | G | GGCCATGG others(89): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0051 |
2 | 261 | 0.0077 | 96 | c.*13 others(107): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 1120 | chr17 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(89): Show |
upstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 296 | 0.0034 | 96 | c.-38 others(107): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948889 | G | GGGGAGGG others(89): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0139 | 1 | 296 | 0.0034 | 96 | c.-38 others(107): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3654 | chr12 | TogoVar | |||||||
HIGD1C_chr12_50947544_50975607 | 50948917 | G | GGGGAGGG others(89): Show |
upstream_gene_variant | MODIFIER | NA18947.hp1 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | 210 | 0.0095 | 96 | c.-38 others(107): Show |
HIGD1C | ENSG00000214511.4 | transcript | ENST00000695931.1 | protein_coding | 3626 | chr12 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186005440 | A | ATAAATGT others(89): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03486.hp2 |
a0010 | a0010c0011 | a0010c0011t0004 | a0010c0011t0004g0057 a0010c0011t0004g0058 |
2 | 87 | 0.0230 | 96 | c.447 others(115): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 29/106 | chr1 | TogoVar | |||||||
HMOX1_chr22_35376096_35399207 | 35389395 | C | CCTTCCTT others(89): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 276 | 0.0036 | 96 | c.637 others(111): Show |
HMOX1 | ENSG00000100292.18 | transcript | ENST00000216117.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
HNMT_chr2_137959473_138021364 | 137978605 | T | TATAATAT others(89): Show |
intron_variant | MODIFIER | HG01981.hp2 HG03654.hp1 NA18977.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0157 a0001c0001t0001g0183 a0001c0001t0001g0184 others(1): Show |
4 | 29 | 0.1379 | 96 | c.190 others(113): Show |
HNMT | ENSG00000150540.14 | transcript | ENST00000280097.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HOXC8_chr12_54003985_54017769 | 54014000 | T | TTCTCTTC others(89): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 146 | 0.0068 | 96 | c.*26 others(107): Show |
HOXC8 | ENSG00000037965.6 | transcript | ENST00000040584.6 | protein_coding | 1232 | chr12 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399208 | G | GCACCACC others(89): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 279 | 0.0036 | 96 | c.-25 others(113): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(89): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01993.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 a0001c0001t0004g0144 |
2 | 289 | 0.0069 | 96 | c.-25 others(113): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HRCT1_chr9_35901202_35912136 | 35906598 | A | ACCACCAC others(89): Show |
disruptive_inframe_insertion | MODERATE | HG01978.hp2 | a0006 | a0006c0046 | a0006c0046t0001 | a0006c0046t0001g0000 | 1 | 376 | 0.0027 | 96 | c.316 others(103): Show |
p.His others(109): Show |
HRCT1 | ENSG00000196196.3 | transcript | ENST00000354323.3 | protein_coding | 1/1 | 403/935 | 317/348 | 106/115 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
HS3ST2_chr16_22809162_22921338 | 22818951 | C | CTTCCCTC others(89): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 212 | 0.0047 | 96 | c.485 others(113): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313650 | C | CCGCCTCC others(89): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 135 | 0.0074 | 96 | c.124 others(111): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313650 | C | CCGCCTCC others(89): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0025 others(16): Show |
25 | 159 | 0.1572 | 96 | c.124 others(111): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114807364 | T | TATATCTA others(89): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0157 | 1 | 172 | 0.0058 | 96 | c.350 others(115): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114807393 | C | CTATACCA others(89): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0159 a0002c0002t0002g0005 |
2 | 161 | 0.0124 | 96 | c.350 others(115): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321387 | A | ATATATGG others(89): Show |
upstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 320 | 0.0031 | 96 | c.-36 others(107): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3582 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33321777 | G | GGAACCAA others(89): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 NA18982.hp1 NA19060.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0216 a0002c0002t0002g0235 |
3 | 322 | 0.0093 | 96 | c.-32 others(107): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3192 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33337718 | C | CATACATA others(89): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01515.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0018 | a0001c0001t0001g0183 a0001c0001t0003g0012 a0001c0001t0003g0026 others(15): Show |
22 | 320 | 0.0688 | 96 | c.200 others(113): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
IGF2R_chr6_159964082_160116504 | 159980215 | G | GAAAGAAA others(89): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0002 | a0002c0028 | a0002c0028t0001 | a0002c0028t0001g0263 | 1 | 301 | 0.0033 | 96 | c.149 others(115): Show |
IGF2R | ENSG00000197081.16 | transcript | ENST00000356956.6 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
IK_chr5_140642829_140667480 | 140648007 | G | GGTGTGTG others(89): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 213 | 0.0047 | 96 | c.16+ others(109): Show |
IK | ENSG00000113141.19 | transcript | ENST00000417647.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568116 | T | TATTTAAA others(89): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0002 | 1 | 14 | 0.0714 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568116 | T | TATTTAAA others(89): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 14 | 0.0714 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568187 | A | AGATCAAG others(89): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 124 | 0.0081 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568219 | A | AGATCAAG others(89): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0118 a0001c0001t0002g0044 a0001c0001t0005g0084 |
3 | 119 | 0.0252 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568251 | A | AGATCAAG others(89): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 115 | 0.0087 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568283 | A | AGATCAAG others(89): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0073 | 1 | 112 | 0.0089 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL1RAPL1_chrX_28582446_29961718 | 29568329 | A | AGATTATT others(89): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 135 | 0.0074 | 96 | c.704 others(117): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1360854 | C | CCTGTCTC others(89): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 108 | 0.0093 | 96 | c.759 others(113): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1361016 | C | CCTCTGTC others(89): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01346.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0040 a0001c0001t0002g0043 a0001c0001t0002g0046 others(6): Show |
9 | 48 | 0.1875 | 96 | c.759 others(113): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
IMMP2L_chr7_110657644_111567492 | 110844693 | T | TAGCGCAC others(89): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03225.hp2 HG03471.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0004g0060 a0001c0001t0005g0068 a0001c0001t0005g0075 others(5): Show |
8 | 46 | 0.1739 | 96 | c.408 others(115): Show |
IMMP2L | ENSG00000184903.10 | transcript | ENST00000405709.7 | protein_coding | 5/5 | chr7 | TogoVar | |||||||
INPP4B_chr4_142018160_142851301 | 142720733 | T | TATATATA others(89): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0014 | 1 | 41 | 0.0244 | 96 | c.-19 others(115): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 2/25 | chr4 | TogoVar | |||||||
INTS11_chr1_1306600_1329660 | 1324067 | A | AGGGGCTG others(89): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156 | 1 | 345 | 0.0029 | 96 | c.28+ others(109): Show |
INTS11 | ENSG00000127054.22 | transcript | ENST00000435064.6 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(89): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG00738.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0118 others(14): Show |
17 | 163 | 0.1043 | 96 | c.-62 others(113): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354415 | A | ACCTCCAC others(89): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG02886.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0024 | a0001c0001t0001g0136 a0001c0001t0004g0008 a0001c0002t0024g0093 |
3 | 149 | 0.0201 | 96 | c.-62 others(113): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354447 | C | CACCACCT others(89): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01256.hp2 HG01258.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0063 a0001c0001t0002g0062 a0001c0001t0002g0070 others(7): Show |
10 | 209 | 0.0478 | 96 | c.-62 others(113): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPCEF1_chr6_154149496_154361803 | 154354447 | C | CACCACCT others(89): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0033 a0001c0001t0006g0032 |
2 | 201 | 0.0100 | 96 | c.-62 others(113): Show |
IPCEF1 | ENSG00000074706.14 | transcript | ENST00000367220.9 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
IPO11_chr5_62407763_62633582 | 62435144 | G | GTATATAT others(89): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0157 | 1 | 248 | 0.0040 | 96 | c.-6- others(111): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
IQCM_chr4_149346709_149820843 | 149358844 | C | CAGTATAT others(89): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18988.hp1 NA19084.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0054 a0001c0001t0002g0154 |
3 | 186 | 0.0161 | 96 | c.139 others(115): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
IQGAP2_chr5_76398285_76713132 | 76699615 | C | CTCTCTCT others(89): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0080 | 1 | 218 | 0.0046 | 96 | c.436 others(115): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18440884 | G | GGGGCCCC others(89): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 306 | 0.0033 | 96 | c.-28 others(107): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 2752 | chr19 | TogoVar | |||||||
ITGA11_chr15_68291532_68437163 | 68400639 | A | ATATTATA others(89): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02129.hp2 HG02132.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0055others(2): Show | a0001c0001t0001a0001c0002t0034a0002c0055t0001others(2): Show | a0001c0001t0001g0067 a0001c0002t0034g0077 a0002c0055t0001g0199 others(3): Show |
6 | 238 | 0.0252 | 96 | c.164 others(113): Show |
ITGA11 | ENSG00000137809.17 | transcript | ENST00000315757.9 | protein_coding | 2/29 | chr15 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50085854 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0111 | 1 | 396 | 0.0025 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085886 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0013 | a0001c0013t0015 | a0001c0013t0015g0038 | 1 | 177 | 0.0056 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085886 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0005a0002c0002others(3): Show | a0001c0003t0006a0001c0005t0003a0002c0002t0003others(4): Show | a0001c0003t0006g0047 a0001c0005t0003g0025 a0001c0005t0003g0280 others(58): Show |
67 | 243 | 0.2757 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085886 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03017.hp1 HG03491.hp2 others(7): Show |
a0002a0009 | a0002c0002a0009c0025 | a0002c0002t0003a0002c0002t0007a0009c0025t0003 | a0002c0002t0003g0098 a0002c0002t0003g0139 a0002c0002t0003g0140 others(6): Show |
10 | 186 | 0.0538 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085886 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01175.hp1 HG03491.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0009a0002c0002t0021 | a0002c0002t0003g0096 a0002c0002t0003g0248 a0002c0002t0009g0089 others(1): Show |
4 | 180 | 0.0222 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ITGA3_chr17_50051110_50095481 | 50085886 | G | GTATATTA others(89): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02735.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0086 a0002c0002t0003g0087 |
2 | 178 | 0.0112 | 96 | c.292 others(115): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |