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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ETV6_chr12_11644674_11900377 | 11667696 | ATTTTTTT | A | intron_variant | MODIFIER | HG01433.hp1 HG02559.hp1 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0026a0001c0001t0081others(5): Show | a0001c0001t0004g0109a0001c0001t0026g0108a0001c0001t0081g0112others(5): Show | 8 | 262 | 0.0305 | -7 | c.33+ others(24): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETV6_chr12_11644674_11900377 | 11716330 | CAAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0068a0001c0001t0069others(9): Show | a0001c0001t0013g0256a0001c0001t0068g0253a0001c0001t0069g0087others(9): Show | 12 | 262 | 0.0458 | -7 | c.34- others(24): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETV6_chr12_11644674_11900377 | 11738307 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp2 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0123others(95): Show | 98 | 262 | 0.3741 | -7 | c.34- others(24): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ETV6_chr12_11644674_11900377 | 11859118 | GGTTTTTT | G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01192.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0012others(1): Show | a0001c0001t0006g0036a0001c0001t0006g0037a0001c0001t0010g0163others(2): Show | 5 | 262 | 0.0191 | -7 | c.463 others(24): Show |
ETV6 | ENSG00000139083.11 | transcript | ENST00000396373.9 | protein_coding | 4/7 | chr12 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75532159 | CAAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0025a0001c0002t0004others(3): Show | a0001c0001t0001g0011a0001c0001t0025g0046a0001c0002t0004g0356others(9): Show | 12 | 384 | 0.0313 | -7 | c.-19 others(26): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1A_chr2_75487318_75565939 | 75549006 | ATATTTTT | A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02559.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0018 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0021others(2): Show | 5 | 384 | 0.0130 | -7 | c.-19 others(28): Show |
EVA1A | ENSG00000115363.14 | transcript | ENST00000393913.8 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
EVA1C_chr21_32407706_32520387 | 32416321 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01358.hp2 HG01952.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0001g0283others(15): Show | 18 | 346 | 0.0520 | -7 | c.160 others(24): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVA1C_chr21_32407706_32520387 | 32423070 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00642.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0084others(37): Show | 40 | 346 | 0.1156 | -7 | c.160 others(26): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVA1C_chr21_32407706_32520387 | 32500190 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(23): Show | 26 | 346 | 0.0751 | -7 | c.779 others(24): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
EVI2A_chr17_31311410_31326622 | 31322501 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01433.hp1 HG01952.hp1 HG01981.hp2 others(22): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0014others(5): Show | 25 | 378 | 0.0661 | -7 | c.-10 others(18): Show |
EVI2A | ENSG00000126860.12 | transcript | ENST00000462804.3 | protein_coding | 880 | chr17 | TogoVar | ||||||
EVI2B_chr17_31298770_31319054 | 31316752 | GTTAACAC | G | upstream_gene_variant | MODIFIER | HG02738.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 372 | 0.0081 | -7 | c.-28 others(18): Show |
EVI2B | ENSG00000185862.7 | transcript | ENST00000330927.5 | protein_coding | 2699 | chr17 | TogoVar | ||||||
EVI5L_chr19_7825218_7869976 | 7868321 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG00741.hp1 others(46): Show |
a0001 | a0001c0001a0001c0006a0001c0007 | a0001c0001t0003a0001c0001t0004a0001c0006t0001others(1): Show | a0001c0001t0003g0039a0001c0001t0003g0040a0001c0001t0003g0041others(35): Show | 49 | 396 | 0.1237 | -7 | c.*46 others(18): Show |
EVI5L | ENSG00000142459.9 | transcript | ENST00000538904.7 | protein_coding | 3346 | chr19 | TogoVar | ||||||
EVI5_chr1_92503696_92790108 | 92569852 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG01069.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0038a0002c0002t0004a0002c0002t0007others(13): Show | a0001c0001t0038g0139a0002c0002t0004g0152a0002c0002t0004g0153others(31): Show | 34 | 168 | 0.2024 | -7 | c.207 others(26): Show |
EVI5 | ENSG00000067208.17 | transcript | ENST00000684568.2 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
EVPLL_chr17_18372778_18394647 | 18383617 | GGGCGGCA | G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01099.hp2 others(15): Show |
a0001a0003a0004 | a0001c0003a0003c0005a0004c0006 | a0001c0003t0005a0003c0005t0005a0004c0006t0010 | a0001c0003t0005g0014a0001c0003t0005g0029a0001c0003t0005g0041others(6): Show | 18 | 408 | 0.0441 | -7 | c.876 others(20): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
EVPL_chr17_76001845_76032306 | 76031233 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0022others(9): Show | a0001c0001t0002a0001c0003t0001a0001c0022t0002others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0009others(39): Show | 53 | 404 | 0.1312 | -7 | c.-40 others(18): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 3928 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76031250 | AAAAAAAT | A | upstream_gene_variant | MODIFIER | HG00558.hp2 HG01081.hp2 HG01943.hp1 others(5): Show |
a0001a0012a0023others(1): Show | a0001c0001a0012c0014a0023c0032others(1): Show | a0001c0001t0001a0001c0001t0002a0012c0014t0002others(2): Show | a0001c0001t0001g0133a0001c0001t0002g0002a0001c0001t0002g0010others(5): Show | 8 | 404 | 0.0198 | -7 | c.-40 others(18): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 3945 | chr17 | TogoVar | ||||||
EVPL_chr17_76001845_76032306 | 76031252 | AAAAATAT | A | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01099.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0002a0001c0020t0001a0002c0002t0001others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0027a0001c0001t0002g0031others(4): Show | 10 | 404 | 0.0248 | -7 | c.-40 others(18): Show |
EVPL | ENSG00000167880.8 | transcript | ENST00000301607.8 | protein_coding | 3947 | chr17 | TogoVar | ||||||
EVX2_chr2_176072472_176088962 | 176084416 | GTTTGGTT | G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02080.hp2 HG02155.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0002t0001g0002 | 23 | 430 | 0.0535 | -7 | c.-64 others(16): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 455 | chr2 | TogoVar | ||||||
EVX2_chr2_176072472_176088962 | 176084421 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG02683.hp2 HG03688.hp1 HG03831.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 13 | 430 | 0.0302 | -7 | c.-65 others(16): Show |
EVX2 | ENSG00000174279.5 | transcript | ENST00000308618.5 | protein_coding | 460 | chr2 | TogoVar | ||||||
EWSR1_chr22_29263268_29305521 | 29280862 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(158): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 161 | 390 | 0.4128 | -7 | c.414 others(24): Show |
EWSR1 | ENSG00000182944.18 | transcript | ENST00000397938.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
EXD1_chr15_41177728_41235757 | 41199595 | ATATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp1 others(138): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(137): Show | 141 | 318 | 0.4434 | -7 | c.535 others(24): Show |
EXD1 | ENSG00000178997.12 | transcript | ENST00000458580.7 | protein_coding | 7/11 | chr15 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69191047 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(110): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0002g0008a0001c0001t0002g0035a0001c0001t0002g0057others(104): Show | 113 | 234 | 0.4829 | -7 | c.-67 others(16): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 450 | chr14 | TogoVar | ||||||
EXD2_chr14_69186498_69249018 | 69206455 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01361.hp2 HG01496.hp1 others(13): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0007a0002c0002t0001 | a0001c0004t0007g0168a0001c0004t0007g0169a0001c0004t0007g0170others(13): Show | 16 | 234 | 0.0684 | -7 | c.-48 others(24): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXD2_chr14_69186498_69249018 | 69220253 | GTTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp1 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0002g0035a0001c0001t0002g0057a0001c0001t0002g0058others(36): Show | 43 | 234 | 0.1838 | -7 | c.334 others(24): Show |
EXD2 | ENSG00000081177.19 | transcript | ENST00000685843.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXO1_chr1_241843204_241894939 | 241885836 | GGTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0002a0003a0004others(17): Show | a0002c0002a0002c0044a0003c0003others(18): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0020others(30): Show | a0002c0002t0001g0003a0002c0002t0001g0012a0002c0002t0001g0031others(136): Show | 168 | 416 | 0.4039 | -7 | c.240 others(24): Show |
EXO1 | ENSG00000174371.17 | transcript | ENST00000366548.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXOC2_chr6_480154_698139 | 501352 | CTATATAT | C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02630.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0013a0001c0001t0002g0146a0001c0001t0002g0233others(11): Show | 14 | 272 | 0.0515 | -7 | c.238 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 625518 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02717.hp2 HG02922.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0146a0001c0001t0002g0162a0001c0001t0002g0166others(8): Show | 11 | 272 | 0.0404 | -7 | c.422 others(24): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 4/27 | chr6 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 654803 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG01891.hp2 HG02040.hp2 others(12): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0131a0001c0001t0001g0133a0001c0001t0001g0134others(12): Show | 15 | 272 | 0.0552 | -7 | c.-43 others(26): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | ||||||
EXOC3L4_chr14_103089725_103115559 | 103109320 | TCTCCCTC | T | intron_variant | MODIFIER | HG02257.hp1 HG03540.hp2 NA19030.hp1 |
a0001a0002a0004 | a0001c0005a0002c0007a0004c0010 | a0001c0005t0001a0002c0007t0001a0004c0010t0003 | a0001c0005t0001g0184a0002c0007t0001g0056a0004c0010t0003g0252 | 3 | 404 | 0.0074 | -7 | c.197 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103109645 | TCTCCCTC | T | intron_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001a0004a0008 | a0001c0061a0004c0002a0008c0012 | a0001c0061t0001a0004c0002t0001a0008c0012t0001 | a0001c0061t0001g0260a0004c0002t0001g0050a0008c0012t0001g0244others(1): Show | 4 | 404 | 0.0099 | -7 | c.197 others(24): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EXOC3_chr5_438176_472290 | 441497 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01361.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0003t0002a0001c0013t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0026others(6): Show | 12 | 418 | 0.0287 | -7 | c.-18 others(18): Show |
EXOC3 | ENSG00000180104.16 | transcript | ENST00000512944.6 | protein_coding | 1678 | chr5 | TogoVar | ||||||
EXOC4_chr7_133248078_134070761 | 133712439 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01099.hp2 HG02071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0052a0001c0001t0001g0066a0001c0001t0001g0068others(13): Show | 16 | 102 | 0.1569 | -7 | c.151 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133812596 | TTTTTTCA | T | intron_variant | MODIFIER | HG00738.hp2 HG02280.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0003g0055a0001c0002t0001g0091a0001c0002t0001g0092others(3): Show | 6 | 102 | 0.0588 | -7 | c.151 others(26): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133847875 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 NA19005.hp1 NA19010.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0061a0001c0001t0001g0066a0001c0001t0001g0068others(2): Show | 5 | 102 | 0.0490 | -7 | c.173 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EXOC4_chr7_133248078_134070761 | 133865552 | CACTGCTA | C | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 NA21309.hp2 |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0002a0001c0003t0004a0001c0008t0015 | a0001c0002t0002g0079a0001c0003t0004g0097a0001c0008t0015g0078 | 3 | 102 | 0.0294 | -7 | c.173 others(28): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 11/17 | chr7 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93042948 | TATTATTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00738.hp1 others(27): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0004a0003c0003t0003 | a0001c0001t0003g0215a0001c0001t0004g0009a0001c0001t0004g0087others(27): Show | 30 | 288 | 0.1042 | -7 | c.217 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93042951 | TATTATTA | T | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0278a0001c0001t0006g0279a0001c0001t0006g0280others(1): Show | 4 | 288 | 0.0139 | -7 | c.217 others(28): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | chr10 | TogoVar | ||||||
EXOC6_chr10_92843520_93064490 | 93056646 | ATATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 253 | 288 | 0.8785 | -7 | c.217 others(24): Show |
EXOC6 | ENSG00000138190.17 | transcript | ENST00000260762.10 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EXOSC10_chr1_11061618_11104869 | 11075853 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp1 HG03209.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006a0001c0022 | a0001c0003t0001a0001c0006t0001a0001c0006t0003others(1): Show | a0001c0003t0001g0223a0001c0003t0001g0266a0001c0006t0001g0186others(3): Show | 6 | 284 | 0.0211 | -7 | c.198 others(24): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 17/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11080564 | ACACACAC | A | intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 HG03225.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0213a0001c0007t0001g0215a0001c0007t0001g0216 | 3 | 284 | 0.0106 | -7 | c.158 others(22): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 12/24 | chr1 | TogoVar | ||||||
EXOSC10_chr1_11061618_11104869 | 11088659 | ATCACGGT | A | intron_variant | MODIFIER | HG02615.hp1 HG03209.hp1 HG06807.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0001a0001c0006t0003 | a0001c0006t0001g0185a0001c0006t0001g0186a0001c0006t0003g0187others(2): Show | 5 | 284 | 0.0176 | -7 | c.759 others(22): Show |
EXOSC10 | ENSG00000171824.14 | transcript | ENST00000376936.9 | protein_coding | 6/24 | chr1 | TogoVar | ||||||
EXOSC3_chr9_37774714_37790064 | 37777194 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0002g0012a0001c0001t0004g0006 | 7 | 432 | 0.0162 | -7 | c.*34 others(18): Show |
EXOSC3 | ENSG00000107371.14 | transcript | ENST00000327304.10 | protein_coding | 2519 | chr9 | TogoVar | ||||||
EXOSC9_chr4_121796323_121822021 | 121797557 | CCTTTTTA | C | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0012others(10): Show | 41 | 400 | 0.1025 | -7 | c.-38 others(18): Show |
EXOSC9 | ENSG00000123737.13 | transcript | ENST00000243498.10 | protein_coding | 3765 | chr4 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117858814 | AAGGAAGG | A | intron_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0019 | a0001c0001t0018g0078a0001c0001t0019g0034 | 2 | 190 | 0.0105 | -7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 117869632 | TTATACTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0002others(3): Show | a0001c0001t0001g0123a0001c0001t0001g0140a0001c0001t0001g0146others(8): Show | 11 | 190 | 0.0579 | -7 | c.963 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT1_chr8_117789490_118116826 | 118093268 | CAAAAAAA | C | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(4): Show | a0001c0001t0001g0045a0001c0001t0014g0007a0001c0001t0017g0187others(4): Show | 7 | 190 | 0.0368 | -7 | c.962 others(26): Show |
EXT1 | ENSG00000182197.13 | transcript | ENST00000378204.7 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
EXT2_chr11_44090678_44256962 | 44097762 | AAATAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(120): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(119): Show | 123 | 334 | 0.3683 | -7 | c.-31 others(24): Show |
EXT2 | ENSG00000151348.16 | transcript | ENST00000533608.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
EYA1_chr8_71192433_71367069 | 71277115 | ATTTTTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01496.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(5): Show | a0001c0001t0001g0061a0001c0001t0001g0208a0001c0001t0003g0176others(7): Show | 10 | 232 | 0.0431 | -7 | c.827 others(24): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71286797 | GTTTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0006a0001c0003t0002others(2): Show | a0001c0002t0002g0209a0001c0002t0006g0045a0001c0003t0002g0096others(3): Show | 6 | 232 | 0.0259 | -7 | c.826 others(26): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 9/17 | chr8 | TogoVar | ||||||
EYA2_chr20_46889843_47193844 | 46908870 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp2 HG02970.hp1 HG03927.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0216a0001c0001t0003g0119a0001c0001t0003g0204others(7): Show | 10 | 238 | 0.0420 | -7 | c.-11 others(26): Show |
EYA2 | ENSG00000064655.19 | transcript | ENST00000327619.10 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |