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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ECPAS_chr9_111355685_111489383 | 111399036 | GAATAT | G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG01516.hp1 others(36): Show |
a0002a0008 | a0002c0004a0002c0006a0002c0010others(2): Show | a0002c0004t0001a0002c0006t0001a0002c0010t0001others(2): Show | a0002c0004t0001g0313a0002c0004t0001g0314a0002c0004t0001g0315others(35): Show | 39 | 354 | 0.1102 | -5 | c.265 others(24): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111444992 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(53): Show |
a0002a0003a0009 | a0002c0003a0003c0005a0009c0016 | a0002c0003t0001a0002c0003t0003a0003c0005t0002others(1): Show | a0002c0003t0001g0006a0002c0003t0001g0008a0002c0003t0001g0251others(53): Show | 56 | 354 | 0.1582 | -5 | c.154 others(20): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 3/49 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111478556 | TAAATA | T | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01243.hp2 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011a0002c0002t0001g0012a0002c0002t0001g0013others(10): Show | 13 | 354 | 0.0367 | -5 | c.-83 others(22): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 1/49 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111484922 | TAAGTA | T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185a0001c0001t0001g0208a0001c0001t0001g0219 | 3 | 354 | 0.0085 | -5 | c.-89 others(14): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 540 | chr9 | TogoVar | ||||||
ECPAS_chr9_111355685_111489383 | 111488095 | AAAGAG | A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(2): Show | a0001c0001t0001g0171a0001c0001t0001g0185a0001c0001t0001g0191others(68): Show | 71 | 354 | 0.2006 | -5 | c.-40 others(16): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 3713 | chr9 | TogoVar | ||||||
ECRG4_chr2_106060688_106083155 | 106067313 | TAAAAG | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00735.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0001 | a0001c0001t0001g0209a0001c0001t0001g0211a0001c0001t0001g0256others(16): Show | 19 | 434 | 0.0438 | -5 | c.79+ others(20): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106069207 | ATTTTC | A | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02886.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0024a0001c0003t0001g0245a0001c0003t0001g0251others(1): Show | 6 | 434 | 0.0138 | -5 | c.80- others(20): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECRG4_chr2_106060688_106083155 | 106071322 | TAAAAA | T | intron_variant | MODIFIER | HG02056.hp1 HG03834.hp1 HG04115.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0006 | a0001c0001t0001g0259a0001c0001t0001g0282a0001c0002t0001g0004others(7): Show | 17 | 434 | 0.0392 | -5 | c.80- others(18): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ECSIT_chr19_11500929_11534134 | 11510546 | AGAGAG | A | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085a0001c0001t0001g0106a0001c0001t0001g0107others(2): Show | 5 | 312 | 0.0160 | -5 | c.739 others(22): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
ECSIT_chr19_11500929_11534134 | 11513613 | GGGGGA | G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(2): Show | 5 | 312 | 0.0160 | -5 | c.514 others(20): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 3/7 | chr19 | TogoVar | ||||||
ECSIT_chr19_11500929_11534134 | 11515455 | CTTTCT | C | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00621.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0029a0001c0001t0001g0138others(5): Show | 22 | 312 | 0.0705 | -5 | c.97- others(20): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 2/7 | chr19 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138808722 | CTCTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(86): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0003a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0045a0001c0001t0001g0051a0001c0001t0001g0056others(86): Show | 89 | 326 | 0.2730 | -5 | c.-24 others(24): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138812714 | AGAATG | A | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02896.hp1 others(2): Show |
a0006 | a0006c0011a0006c0015 | a0006c0011t0014a0006c0011t0021a0006c0015t0003 | a0006c0011t0014g0013a0006c0011t0014g0237a0006c0011t0021g0236others(2): Show | 5 | 326 | 0.0153 | -5 | c.-24 others(22): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138836670 | GTGTTC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(202): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0003a0001c0009others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0051others(202): Show | 205 | 326 | 0.6288 | -5 | c.180 others(22): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138847261 | TCAAAA | T | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp2 HG02109.hp1 others(12): Show |
a0001a0005a0009others(3): Show | a0001c0001a0005c0007a0005c0024others(5): Show | a0001c0001t0008a0005c0007t0001a0005c0024t0005others(6): Show | a0001c0001t0008g0046a0005c0007t0001g0300a0005c0007t0001g0301others(12): Show | 15 | 326 | 0.0460 | -5 | c.903 others(20): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138847355 | CTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG02145.hp1 HG04228.hp2 others(10): Show |
a0001a0002a0024 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(5): Show | a0001c0001t0001g0112a0001c0001t0001g0125a0001c0001t0001g0149others(10): Show | 13 | 326 | 0.0399 | -5 | c.903 others(20): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138858697 | CTTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp2 HG02922.hp2 others(9): Show |
a0001a0004a0007 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(4): Show | a0001c0001t0002g0182a0001c0001t0003g0023a0001c0001t0003g0030others(9): Show | 12 | 326 | 0.0368 | -5 | c.119 others(24): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138864002 | TAAAAA | T | intron_variant | MODIFIER | HG01433.hp1 HG02622.hp2 HG02717.hp1 others(5): Show |
a0003a0004 | a0003c0004a0004c0006 | a0003c0004t0004a0003c0004t0007a0004c0006t0001others(1): Show | a0003c0004t0004g0241a0003c0004t0004g0242a0003c0004t0007g0320others(5): Show | 8 | 326 | 0.0245 | -5 | c.129 others(22): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138867655 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(52): Show |
a0001a0002a0012others(2): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0025a0001c0001t0001g0027a0001c0001t0001g0032others(52): Show | 55 | 326 | 0.1687 | -5 | c.147 others(22): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ECT2L_chr6_138791087_138909070 | 138904663 | TATAGA | T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01433.hp1 HG01884.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0029others(6): Show | a0001c0001t0007g0006a0001c0001t0008g0046a0001c0001t0008g0158others(20): Show | 23 | 326 | 0.0706 | -5 | c.*20 others(16): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 594 | chr6 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172760432 | CTTTCT | C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02622.hp2 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0022a0002c0003t0003g0094a0002c0003t0003g0095others(2): Show | 6 | 318 | 0.0189 | -5 | c.684 others(20): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ECT2_chr3_172745726_172826474 | 172775166 | AGTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(114): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0009a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0026others(102): Show | 117 | 318 | 0.3679 | -5 | c.154 others(24): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 14/24 | chr3 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172782247 | CTTTTT | C | intron_variant | MODIFIER | HG01255.hp1 HG02486.hp2 HG02572.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0005 | a0001c0001t0004a0001c0006t0004a0004c0005t0004 | a0001c0001t0004g0030a0001c0001t0004g0244a0001c0001t0004g0245others(18): Show | 22 | 318 | 0.0692 | -5 | c.161 others(20): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EDA2R_chrX_66590637_66644078 | 66607704 | CAAACA | C | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 222 | 0.0045 | -5 | c.88- others(20): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 2/6 | chrX | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405785 | CTTTCT | C | intron_variant | MODIFIER | HG01943.hp1 HG02040.hp1 HG02155.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0086a0001c0001t0001g0118a0001c0001t0001g0159others(11): Show | 14 | 294 | 0.0476 | -5 | c.62- others(20): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236431927 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02486.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(2): Show | a0002c0002t0002g0286a0002c0002t0006g0239a0002c0002t0007g0224others(4): Show | 7 | 294 | 0.0238 | -5 | c.219 others(22): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236447246 | TCTTTC | T | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp1 HG02258.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0007 | a0001c0003t0001a0002c0002t0002a0002c0002t0006others(5): Show | a0001c0003t0001g0037a0002c0002t0002g0257a0002c0002t0006g0239others(6): Show | 9 | 294 | 0.0306 | -5 | c.219 others(24): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EDAR_chr2_108889471_108994220 | 108938028 | ATTTAC | A | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp2 HG02698.hp1 others(10): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0015a0001c0002t0017a0001c0004t0003others(6): Show | a0001c0002t0015g0129a0001c0002t0017g0012a0001c0004t0003g0016others(10): Show | 13 | 226 | 0.0575 | -5 | c.-18 others(22): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108970592 | ACCAGG | A | intron_variant | MODIFIER | HG00738.hp1 HG02698.hp1 HG03831.hp2 others(5): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(3): Show | a0001c0002t0017a0001c0004t0003a0001c0006t0010others(3): Show | a0001c0002t0017g0012a0001c0004t0003g0016a0001c0006t0010g0011others(5): Show | 8 | 226 | 0.0354 | -5 | c.-19 others(24): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108990600 | CAGAAA | C | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0011 | a0001c0002t0004g0197a0001c0007t0011g0196 | 2 | 226 | 0.0089 | -5 | c.-16 others(16): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1381 | chr2 | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69612261 | GTTTTA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00733.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0130a0001c0001t0001g0180others(15): Show | 18 | 226 | 0.0797 | -5 | c.-40 others(16): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 3851 | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69618880 | TTTATC | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01109.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(24): Show | 27 | 226 | 0.1195 | -5 | c.396 others(22): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69696377 | CATCTT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0144a0001c0001t0002g0145 | 2 | 226 | 0.0089 | -5 | c.396 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69749919 | GTTCTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0097a0001c0001t0001g0201others(25): Show | 29 | 226 | 0.1283 | -5 | c.396 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69764234 | CTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0220a0001c0001t0002g0217 | 2 | 226 | 0.0089 | -5 | c.396 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69810257 | CAAAAA | C | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 226 | 0.0044 | -5 | c.397 others(26): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 69910421 | GTGTGT | G | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 226 | 0.0044 | -5 | c.397 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 70001387 | GTGGTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp2 others(56): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017a0001c0001t0001g0028a0001c0001t0001g0032others(56): Show | 59 | 226 | 0.2611 | -5 | c.503 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDA_chrX_69611113_70044472 | 70009564 | GGTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG01099.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0017a0001c0001t0001g0039a0001c0001t0001g0046others(29): Show | 32 | 226 | 0.1416 | -5 | c.503 others(24): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EDDM13_chr19_56267748_56315454 | 56284481 | AATTAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(218): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0022others(192): Show | 221 | 396 | 0.5581 | -5 | c.127 others(20): Show |
EDDM13 | ENSG00000267710.9 | transcript | ENST00000649256.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EDEM1_chr3_5182707_5224958 | 5196913 | GTCTTT | G | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01243.hp1 others(15): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0028others(10): Show | 18 | 374 | 0.0481 | -5 | c.582 others(22): Show |
EDEM1 | ENSG00000134109.11 | transcript | ENST00000256497.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EDEM2_chr20_35110364_35152336 | 35148711 | TCAAAA | T | upstream_gene_variant | MODIFIER | HG03834.hp1 HG04115.hp1 NA18979.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0085a0002c0003t0001g0002a0002c0003t0001g0155 | 3 | 332 | 0.0090 | -5 | c.-14 others(16): Show |
EDEM2 | ENSG00000088298.13 | transcript | ENST00000374492.8 | protein_coding | 1376 | chr20 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184729820 | CTGTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0018a0001c0003t0019others(1): Show | a0001c0003t0009g0002a0001c0003t0009g0085a0001c0003t0009g0088others(4): Show | 9 | 324 | 0.0278 | -5 | c.612 others(22): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 6/19 | chr1 | TogoVar | ||||||
EDEM3_chr1_184685237_184759858 | 184743474 | AAAAAT | A | intron_variant | MODIFIER | HG01099.hp2 HG02055.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0009a0001c0003t0018a0001c0003t0019others(1): Show | a0001c0003t0009g0002a0001c0003t0009g0085a0001c0003t0009g0088others(4): Show | 9 | 324 | 0.0278 | -5 | c.205 others(22): Show |
EDEM3 | ENSG00000116406.20 | transcript | ENST00000318130.13 | protein_coding | 2/19 | chr1 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84006343 | TAAAAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00741.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0059others(27): Show | 30 | 158 | 0.1899 | -5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84027546 | TTTTTA | T | intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001 | a0001c0001t0003g0077a0001c0001t0005g0148a0001c0002t0001g0146 | 3 | 158 | 0.0190 | -5 | c.113 others(26): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 9/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84080613 | GGAAAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00639.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0021others(53): Show | 56 | 158 | 0.3544 | -5 | c.652 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84082809 | ATTGAG | A | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01243.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0021others(28): Show | 31 | 158 | 0.1962 | -5 | c.652 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84160744 | TCTTTC | T | intron_variant | MODIFIER | HG02129.hp1 HG02129.hp2 HG02145.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0056a0001c0001t0002g0003a0001c0001t0002g0044others(8): Show | 11 | 158 | 0.0696 | -5 | c.355 others(24): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
EDIL3_chr5_83935554_84389880 | 84319494 | CAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0056others(39): Show | 42 | 158 | 0.2658 | -5 | c.67+ others(22): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar |