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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALR1_chr18_77244848_77282900 | 77264133 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(69): Show |
a0001a0007a0009others(2): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0079 others(66): Show |
72 | 366 | 0.1967 | -7 | c.733 others(24): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALT_chr9_34641675_34656035 | 34644302 | TATATATA | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01433.hp2 HG02148.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 |
12 | 416 | 0.0289 | -7 | c.-24 others(18): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | |||||||
GAMT_chr19_1392026_1406542 | 1403175 | ATTTTTTT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
65 | 402 | 0.1617 | -7 | c.-17 others(18): Show |
GAMT | ENSG00000130005.13 | transcript | ENST00000252288.8 | protein_coding | 1634 | chr19 | TogoVar | |||||||
GANC_chr15_42268201_42358666 | 42350022 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp2 HG02055.hp1 others(14): Show |
a0003a0009 | a0003c0003a0003c0008a0003c0013others(1): Show | a0003c0003t0012a0003c0008t0006a0003c0008t0013others(2): Show | a0003c0003t0012g0097 a0003c0003t0012g0098 a0003c0003t0012g0099 others(14): Show |
17 | 262 | 0.0649 | -7 | c.253 others(24): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115618681 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00741.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0033 others(51): Show |
54 | 352 | 0.1534 | -7 | c.-50 others(18): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 4828 | chr3 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115675758 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0022 a0001c0001t0001g0172 a0001c0001t0001g0173 others(6): Show |
9 | 352 | 0.0256 | -7 | c.31- others(20): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698050 | TTATATAA | T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01361.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0031 others(34): Show |
37 | 352 | 0.1051 | -7 | c.628 others(26): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115714407 | GCAGGTTA | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0001g0242 others(2): Show |
5 | 352 | 0.0142 | -7 | c.629 others(24): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125269710 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(28): Show |
a0001a0007a0011 | a0001c0002a0007c0009a0011c0008 | a0001c0002t0003a0001c0002t0007a0001c0002t0038others(2): Show | a0001c0002t0003g0004 a0001c0002t0003g0005 a0001c0002t0003g0123 others(28): Show |
31 | 340 | 0.0912 | -7 | c.-15 others(24): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT | A | intron_variant | MODIFIER | HG01517.hp2 HG02056.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(2): Show | a0001c0001t0001g0248 a0001c0001t0001g0310 a0001c0001t0001g0320 others(5): Show |
8 | 340 | 0.0235 | -7 | c.185 others(22): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32301510 | CTCTGAGT | C | intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(26): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(14): Show | a0001c0001t0001g0106 a0001c0001t0003g0164 a0001c0002t0003g0061 others(26): Show |
29 | 192 | 0.1510 | -7 | c.393 others(24): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 3/5 | chr18 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32382519 | TGCTGGAG | T | intron_variant | MODIFIER | NA18952.hp1 NA18983.hp2 NA19012.hp2 others(1): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0035 | a0001c0001t0001a0001c0002t0001a0010c0035t0001 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0002t0001g0033 others(1): Show |
4 | 192 | 0.0208 | -7 | c.262 others(26): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32406198 | ATTTTTCT | A | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02723.hp1 others(2): Show |
a0001a0008 | a0001c0002a0008c0028 | a0001c0002t0003a0001c0002t0007a0001c0002t0021others(1): Show | a0001c0002t0003g0061 a0001c0002t0003g0062 a0001c0002t0007g0043 others(2): Show |
5 | 192 | 0.0260 | -7 | c.122 others(26): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 1/5 | chr18 | TogoVar | |||||||
GARNL3_chr9_127259774_127398660 | 127269772 | GTTTTGTT | G | intron_variant | MODIFIER | HG00558.hp1 HG02027.hp2 NA18946.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(5): Show |
8 | 300 | 0.0267 | -7 | c.144 others(24): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GAS2L2_chr17_35739511_35758239 | 35751848 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00733.hp2 others(52): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0004c0023others(7): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0003others(13): Show | a0001c0001t0001g0122 a0004c0004t0001g0003 a0004c0004t0001g0124 others(18): Show |
55 | 436 | 0.1262 | -7 | c.385 others(22): Show |
GAS2L2 | ENSG00000270765.7 | transcript | ENST00000604641.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
GAS2L3_chr12_100568684_100633288 | 100572812 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01081.hp1 HG02027.hp1 HG02027.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0106 others(40): Show |
51 | 402 | 0.1269 | -7 | c.-11 others(18): Show |
GAS2L3 | ENSG00000139354.11 | transcript | ENST00000547754.6 | protein_coding | 871 | chr12 | TogoVar | |||||||
GAS2_chr11_22661611_22818001 | 22704683 | TATTGTAG | T | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp2 HG01361.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0106 a0001c0001t0001g0162 a0001c0001t0003g0174 others(18): Show |
21 | 272 | 0.0772 | -7 | c.267 others(26): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS2_chr11_22661611_22818001 | 22782766 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0039 a0001c0001t0001g0081 a0001c0001t0001g0084 others(39): Show |
42 | 272 | 0.1544 | -7 | c.723 others(26): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS7_chr17_9905606_10203606 | 9951760 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01175.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0130 others(22): Show |
25 | 218 | 0.1147 | -7 | c.526 others(24): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 5/13 | chr17 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 9954471 | ATGGGGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(213): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0049 others(213): Show |
216 | 218 | 0.9908 | -7 | c.525 others(24): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 5/13 | chr17 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10042292 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0088 a0001c0001t0002g0105 a0001c0001t0002g0216 others(10): Show |
13 | 218 | 0.0596 | -7 | c.184 others(26): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10118704 | CAAAAAAA | C | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0026others(3): Show | a0001c0001t0003g0143 a0001c0001t0007g0021 a0001c0001t0026g0048 others(3): Show |
6 | 218 | 0.0275 | -7 | c.183 others(26): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GASK1A_chr3_42974311_43062715 | 42977086 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0004a0001c0005t0004a0002c0002t0004others(6): Show | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0005t0004g0307 others(24): Show |
27 | 342 | 0.0790 | -7 | c.-25 others(18): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 2224 | chr3 | TogoVar | |||||||
GASK1A_chr3_42974311_43062715 | 43042305 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0012others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0010 others(207): Show |
224 | 342 | 0.6550 | -7 | c.129 others(26): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GATA3_chr10_8049688_8080198 | 8064295 | TTCTTTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(187): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(150): Show |
190 | 370 | 0.5135 | -7 | c.924 others(22): Show |
GATA3 | ENSG00000107485.18 | transcript | ENST00000379328.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GATA3_chr10_8049688_8080198 | 8067838 | CAAAACAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(334): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0011 others(282): Show |
337 | 370 | 0.9108 | -7 | c.925 others(24): Show |
GATA3 | ENSG00000107485.18 | transcript | ENST00000379328.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62477101 | CTTTCTTT | C | upstream_gene_variant | MODIFIER | HG02056.hp1 HG02647.hp2 HG02735.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0016others(4): Show | a0001c0001t0001g0280 a0001c0003t0002g0286 a0001c0003t0016g0275 others(5): Show |
8 | 382 | 0.0209 | -7 | c.-12 others(18): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1107 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477118 | TTTCTTTC | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG04199.hp2 NA18948.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0005 | a0001c0001t0004g0001 a0001c0002t0001g0010 a0001c0002t0001g0104 others(1): Show |
4 | 382 | 0.0105 | -7 | c.-12 others(18): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1124 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477122 | TTTCTTTC | T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01361.hp2 others(16): Show |
a0001a0008a0026 | a0001c0001a0001c0002a0008c0018others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0020 others(14): Show |
19 | 382 | 0.0497 | -7 | c.-12 others(18): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1128 | chr20 | TogoVar | |||||||
GATA6_chr18_22164589_22207528 | 22177945 | TTTTTTTG | T | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02109.hp1 others(9): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0078 others(7): Show |
12 | 286 | 0.0420 | -7 | c.130 others(24): Show |
GATA6 | ENSG00000141448.11 | transcript | ENST00000269216.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GATAD2B_chr1_153799725_153927972 | 153820098 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00438.hp2 others(48): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(14): Show | a0001c0001t0001g0043 a0001c0001t0001g0073 a0001c0001t0001g0075 others(48): Show |
51 | 349 | 0.1461 | -7 | c.336 others(22): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153820974 | ATTTTTTT | A | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017a0001c0001t0032others(1): Show | a0001c0001t0003g0014 a0001c0001t0003g0105 a0001c0001t0003g0138 others(3): Show |
6 | 349 | 0.0172 | -7 | c.336 others(24): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153839108 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(85): Show |
88 | 349 | 0.2522 | -7 | c.-1- others(24): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153876227 | CAAAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG01981.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0003g0091 a0001c0001t0004g0347 a0001c0001t0007g0308 others(6): Show |
9 | 349 | 0.0258 | -7 | c.-2+ others(24): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153908781 | GGAAAAAA | G | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016a0001c0001t0025others(3): Show | a0001c0001t0004g0347 a0001c0001t0016g0342 a0001c0001t0025g0345 others(5): Show |
8 | 349 | 0.0229 | -7 | c.-2+ others(24): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GATAD2B_chr1_153799725_153927972 | 153914227 | CAAAAAAA | C | intron_variant | MODIFIER | HG01433.hp2 HG02451.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025a0001c0001t0027others(2): Show | a0001c0001t0016g0342 a0001c0001t0025g0345 a0001c0001t0025g0346 others(4): Show |
7 | 349 | 0.0201 | -7 | c.-2+ others(22): Show |
GATAD2B | ENSG00000143614.11 | transcript | ENST00000368655.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81710171 | AAAGTCAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0016 | a0001c0001t0010g0257 a0001c0001t0010g0258 a0001c0001t0016g0259 |
3 | 304 | 0.0099 | -7 | c.144 others(24): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBE1_chr3_81484703_81766645 | 81750690 | TATATGTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00558.hp1 others(53): Show |
a0002a0007a0009others(2): Show | a0002c0002a0007c0016a0009c0014others(2): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(5): Show | a0002c0002t0001g0004 a0002c0002t0001g0050 a0002c0002t0001g0052 others(53): Show |
56 | 304 | 0.1842 | -7 | c.143 others(26): Show |
GBE1 | ENSG00000114480.13 | transcript | ENST00000429644.7 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102287344 | CTTTTTTT | C | intron_variant | MODIFIER | HG01358.hp2 HG01928.hp1 HG02040.hp1 others(7): Show |
a0001a0014 | a0001c0001a0001c0014a0014c0020 | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(1): Show | a0001c0001t0001g0136 a0001c0001t0001g0163 a0001c0001t0001g0168 others(7): Show |
10 | 330 | 0.0303 | -7 | c.163 others(26): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102293762 | ATGTTTTG | A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0004a0001c0021 | a0001c0004t0004a0001c0021t0004 | a0001c0004t0004g0004 a0001c0004t0004g0013 a0001c0004t0004g0014 others(2): Show |
5 | 330 | 0.0152 | -7 | c.163 others(26): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102322718 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01516.hp2 others(18): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0024others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0024t0001others(1): Show | a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 others(18): Show |
21 | 330 | 0.0636 | -7 | c.164 others(26): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 3/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GBF1_chr10_102240532_102387896 | 102346085 | TTTTTTTA | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00735.hp2 others(53): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0014a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0106 a0001c0001t0001g0107 others(53): Show |
56 | 330 | 0.1697 | -7 | c.295 others(24): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 4/39 | chr10 | TogoVar | |||||||
GBF1_chr10_102240532_102387896 | 102378639 | AATAAAAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02647.hp2 others(7): Show |
a0001a0013 | a0001c0001a0013c0009 | a0001c0001t0001a0013c0009t0001 | a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 others(7): Show |
10 | 330 | 0.0303 | -7 | c.449 others(24): Show |
GBF1 | ENSG00000107862.7 | transcript | ENST00000369983.5 | protein_coding | 33/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54838244 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01192.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0041 a0001c0001t0003g0309 a0001c0001t0004g0019 others(5): Show |
8 | 346 | 0.0231 | -7 | c.*57 others(18): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3772 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54879420 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0048 others(33): Show |
36 | 346 | 0.1041 | -7 | c.344 others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880856 | TATACTCC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0048 others(94): Show |
101 | 346 | 0.2919 | -7 | c.344 others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54888679 | ATTTTTTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01433.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0005g0327 a0001c0001t0005g0328 a0001c0001t0005g0329 others(14): Show |
17 | 346 | 0.0491 | -7 | c.343 others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCM2_chr6_10868223_10887041 | 10884328 | GAAAAAAA | G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG02965.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 a0002c0003t0001g0046 |
8 | 426 | 0.0188 | -7 | c.-25 others(18): Show |
GCM2 | ENSG00000124827.7 | transcript | ENST00000379491.5 | protein_coding | 2288 | chr6 | TogoVar | |||||||
GCNT2_chr6_10516351_10634368 | 10581263 | ATTTATTT | A | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0006g0286 |
3 | 324 | 0.0093 | -7 | c.926 others(26): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
GCNT2_chr6_10516351_10634368 | 10605147 | TAAAACAA | T | intron_variant | MODIFIER | NA18951.hp1 NA18973.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0177 |
3 | 324 | 0.0093 | -7 | c.926 others(26): Show |
GCNT2 | ENSG00000111846.20 | transcript | ENST00000495262.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |