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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT13_chr2_153866922_154458979 | 153884766 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0068 | a0001c0001t0011g0001 a0001c0001t0068g0177 |
2 | 214 | 0.0094 | 30 | c.-17 others(51): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02273.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0021 a0001c0001t0003g0024 a0001c0001t0027g0014 |
3 | 214 | 0.0140 | 30 | c.142 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269904 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0006 | 1 | 214 | 0.0047 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01358.hp1 HG01952.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0025 a0001c0001t0004g0189 a0001c0001t0005g0117 others(12): Show |
15 | 214 | 0.0701 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(9): Show |
12 | 214 | 0.0561 | 30 | c.975 others(49): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154298430 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01261.hp2 HG02523.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0002g0146 a0001c0001t0005g0101 a0001c0001t0009g0126 others(2): Show |
5 | 214 | 0.0234 | 30 | c.976 others(47): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30989560 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0093 |
2 | 226 | 0.0089 | 30 | c.299 others(47): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31087477 | A | AAGGAGAG others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0021 a0001c0001t0001g0117 a0001c0001t0001g0123 others(2): Show |
5 | 226 | 0.0221 | 30 | c.129 others(49): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT16_chr14_69255158_69359466 | 69345703 | A | AGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 306 | 0.0033 | 30 | c.127 others(49): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201239 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02895.hp1 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0001 a0001c0001t0005g0054 a0001c0001t0007g0055 others(1): Show |
4 | 76 | 0.0526 | 30 | c.238 others(49): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 76 | 0.0132 | 30 | c.239 others(49): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71592544 | A | AATAAAAT others(23): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0032 a0001c0002t0003g0006 |
2 | 76 | 0.0263 | 30 | c.108 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71693307 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 76 | 0.0132 | 30 | c.150 others(51): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11625115 | C | CTCCTGCC others(23): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0002t0002others(3): Show | a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0014g0095 others(6): Show |
9 | 260 | 0.0346 | 30 | c.-35 others(41): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3111 | chr11 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0248 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA19043.hp1 |
a0001a0002a0004 | a0001c0002a0002c0005a0004c0006 | a0001c0002t0066a0002c0005t0002a0004c0006t0014 | a0001c0002t0066g0096 a0002c0005t0002g0198 a0004c0006t0014g0168 |
3 | 282 | 0.0106 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0064 | a0002c0005t0064g0203 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0087 | a0001c0002t0087g0259 | 1 | 282 | 0.0036 | 30 | c.174 others(49): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132198427 | C | CGGGGCTG others(23): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053 | 1 | 183 | 0.0055 | 30 | c.149 others(47): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 9/10 | chr12 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172058113 | G | GTTGTTTT others(23): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 40 | 0.0250 | 30 | c.139 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172177785 | A | ATGTGTAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 40 | 0.0250 | 30 | c.139 others(49): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172528952 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02145.hp2 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0040 others(2): Show |
5 | 40 | 0.1250 | 30 | c.553 others(51): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252998 | C | CCATCACC others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0003 | a0003c0005 | a0003c0005t0045 | a0003c0005t0045g0046 | 1 | 366 | 0.0027 | 30 | c.666 others(47): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259287 | G | GTGGTCAT others(23): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0003 | a0002c0003t0025 | a0002c0003t0025g0126 | 1 | 366 | 0.0027 | 30 | c.732 others(47): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77281062 | A | AATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01109.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(18): Show | a0001c0001t0003g0266 a0001c0001t0003g0285 a0001c0001t0005g0289 others(22): Show |
25 | 366 | 0.0683 | 30 | c.*12 others(43): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3163 | chr18 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77281090 | T | TATATATA others(23): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 366 | 0.0027 | 30 | c.*12 others(43): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 3191 | chr18 | TogoVar | |||||||
GAN_chr16_81309962_81395809 | 81353292 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0311 | 1 | 384 | 0.0026 | 30 | c.283 others(47): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAN_chr16_81309962_81395809 | 81353297 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0310 | 1 | 384 | 0.0026 | 30 | c.283 others(47): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115672732 | C | CCCTCTCC others(23): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0002g0243 a0001c0001t0002g0244 |
3 | 352 | 0.0085 | 30 | c.31- others(45): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115698287 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0316 | 1 | 352 | 0.0028 | 30 | c.628 others(49): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAREM1_chr18_32258522_32475882 | 32364026 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0015 | a0001c0015t0014 | a0001c0015t0014g0112 | 1 | 192 | 0.0052 | 30 | c.262 others(49): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | |||||||
GAREM2_chr2_26168088_26194663 | 26178883 | G | GGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01081.hp1 others(50): Show |
a0001a0007a0011others(1): Show | a0001c0001a0007c0019a0011c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0019 others(19): Show |
53 | 306 | 0.1732 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26178889 | A | AGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00733.hp2 others(90): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0007a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0027 others(27): Show |
93 | 306 | 0.3039 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26178889 | A | AGGAGGCG others(23): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01071.hp2 others(26): Show |
a0001 | a0001c0001a0001c0005a0001c0018 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0015 others(9): Show |
29 | 306 | 0.0948 | 30 | c.253 others(47): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GARIN1A_chr7_128667292_128692877 | 128678958 | C | CGTTACAT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0010 | a0007c0010t0004 | a0007c0010t0004g0159 | 1 | 428 | 0.0023 | 30 | c.589 others(47): Show |
GARIN1A | ENSG00000205085.13 | transcript | ENST00000682356.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GARIN3_chr5_157156846_157171264 | 157161704 | T | TCAAGAGT others(23): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 2 | 396 | 0.0051 | 30 | c.*71 others(39): Show |
GARIN3 | ENSG00000170613.4 | transcript | ENST00000302938.4 | protein_coding | 141 | chr5 | TogoVar | |||||||
GARIN5B_chr19_55349908_55368260 | 55359429 | C | CGGGATGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp1 HG01891.hp2 HG02572.hp1 others(5): Show |
a0009a0020a0028 | a0009c0009a0020c0024a0028c0020 | a0009c0009t0004a0009c0009t0008a0020c0024t0001others(1): Show | a0009c0009t0004g0012 a0009c0009t0004g0137 a0009c0009t0008g0136 others(2): Show |
8 | 356 | 0.0225 | 30 | c.140 others(39): Show |
p.Gln others(13): Show |
GARIN5B | ENSG00000180043.11 | transcript | ENST00000424985.3 | protein_coding | 9/11 | 1632/3191 | 1438/2769 | 480/922 | chr19 | TogoVar | |||
GARNL3_chr9_127259774_127398660 | 127331720 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02647.hp2 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0261 |
3 | 300 | 0.0100 | 30 | c.595 others(45): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0264 |
2 | 300 | 0.0067 | 30 | c.287 others(47): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARNL3_chr9_127259774_127398660 | 127391533 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00609.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0255 |
2 | 300 | 0.0067 | 30 | c.287 others(47): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34340438 | T | TTTTTCTT others(23): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02602.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0008a0002c0005t0003 | a0001c0003t0008g0160 a0002c0005t0003g0155 a0002c0005t0003g0156 others(1): Show |
4 | 326 | 0.0123 | 30 | c.148 others(47): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GAS2_chr11_22661611_22818001 | 22789423 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | NA18940.hp1 NA18951.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0004 | a0001c0002t0001g0105 a0001c0002t0002g0014 a0001c0002t0004g0125 others(2): Show |
5 | 272 | 0.0184 | 30 | c.724 others(49): Show |
GAS2 | ENSG00000148935.12 | transcript | ENST00000454584.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113836270 | A | AGGAGGGG others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0008 | 1 | 143 | 0.0070 | 30 | c.590 others(45): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
GAS7_chr17_9905606_10203606 | 10046832 | G | GAAGAAAG others(23): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0151 | 1 | 218 | 0.0046 | 30 | c.184 others(49): Show |
GAS7 | ENSG00000007237.19 | transcript | ENST00000432992.7 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
GAS8_chr16_90017680_90049960 | 90047887 | A | AGAGGGGG others(23): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0033g0260 |
4 | 390 | 0.0103 | 30 | c.*45 others(41): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2928 | chr16 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62463817 | G | GCCCTGTG others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0004a0001c0002t0004a0001c0002t0011others(13): Show | a0001c0001t0004g0002 a0001c0001t0004g0028 a0001c0001t0004g0070 others(24): Show |
40 | 382 | 0.1047 | 30 | c.*10 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 7/7 | 1018 | chr20 | TogoVar | ||||||
GATA5_chr20_62458497_62480995 | 62471432 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18983.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0124 a0001c0002t0006g0125 |
2 | 382 | 0.0052 | 30 | c.699 others(47): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 3/6 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477098 | C | CTTCCTTC others(23): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0232 | 1 | 382 | 0.0026 | 30 | c.-11 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1104 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477106 | T | TTCTTTCT others(23): Show |
upstream_gene_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0039 | 1 | 382 | 0.0026 | 30 | c.-11 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1112 | chr20 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477303 | T | TTTCTTTC others(23): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 382 | 0.0026 | 30 | c.-13 others(41): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1309 | chr20 | TogoVar |