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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX12B_chr17_8067636_8092716 | 8087259 | GACACAC | G | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02280.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0042a0001c0001t0002g0075 | 8 | 462 | 0.0173 | -6 | c.147 others(19): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004110 | AAATTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00609.hp2 others(74): Show |
a0002a0006a0007 | a0002c0002a0002c0013a0006c0020others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(3): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0020others(49): Show | 77 | 404 | 0.1906 | -6 | c.116 others(25): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8040574 | AAGGAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG02896.hp1 others(2): Show |
a0001a0006a0008others(1): Show | a0001c0010a0006c0011a0008c0013others(1): Show | a0001c0010t0004a0006c0011t0001a0008c0013t0003others(1): Show | a0001c0010t0004g0085a0006c0011t0001g0255a0008c0013t0003g0256others(1): Show | 5 | 470 | 0.0106 | -6 | c.449 others(21): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4628884 | TATATAG | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02615.hp1 HG02922.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0034a0001c0006t0001g0052a0001c0006t0001g0121others(3): Show | 8 | 472 | 0.0170 | -6 | c.*27 others(17): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2034 | chr17 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30735434 | TAAAAAA | T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0001g0018a0001c0001t0001g0019others(62): Show | 83 | 422 | 0.1967 | -6 | c.-17 others(15): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 108 | chr13 | TogoVar | ||||||
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01192.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195a0001c0001t0001g0208a0001c0001t0001g0241others(8): Show | 11 | 422 | 0.0261 | -6 | c.323 others(21): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45372908 | CTTAAAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0006others(6): Show | a0001c0001t0002g0305a0001c0001t0002g0306a0001c0002t0002g0004others(59): Show | 67 | 345 | 0.1942 | -6 | c.-13 others(17): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 1307 | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45374099 | TGCGGGG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(71): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(8): Show | a0001c0001t0001g0199a0001c0002t0002g0004a0001c0002t0002g0025others(65): Show | 74 | 345 | 0.2145 | -6 | c.-18 others(15): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 116 | chr10 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45390988 | CCCCTCT | C | intron_variant | MODIFIER | HG01106.hp1 HG03669.hp1 NA18977.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0235others(1): Show | 4 | 345 | 0.0116 | -6 | c.350 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45402086 | CAAAAAA | C | intron_variant | MODIFIER | HG02486.hp1 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0009 | a0001c0003t0001g0018a0001c0003t0001g0154a0001c0003t0001g0155others(2): Show | 6 | 345 | 0.0174 | -6 | c.431 others(23): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8098227 | GGTTTTT | G | intron_variant | MODIFIER | HG01099.hp1 HG01123.hp2 HG01261.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0009a0001c0002t0002g0010a0001c0002t0002g0011others(4): Show | 7 | 422 | 0.0166 | -6 | c.195 others(25): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478606 | GTATATA | G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG03927.hp1 NA20905.hp2 |
a0003a0006a0030 | a0003c0003a0006c0015a0030c0030 | a0003c0003t0003a0006c0015t0003a0030c0030t0001 | a0003c0003t0003g0267a0006c0015t0003g0170a0030c0030t0001g0242 | 3 | 320 | 0.0094 | -6 | c.*32 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2640 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58478625 | TATATAC | T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(9): Show |
a0002a0007a0009others(6): Show | a0002c0002a0007c0007a0009c0008others(6): Show | a0002c0002t0003a0007c0007t0010a0009c0008t0003others(6): Show | a0002c0002t0003g0129a0002c0002t0003g0130a0007c0007t0010g0099others(9): Show | 12 | 320 | 0.0375 | -6 | c.*31 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2621 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58502134 | CCACACA | C | intron_variant | MODIFIER | HG00099.hp1 HG01433.hp2 HG01515.hp2 others(11): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0004others(5): Show | a0002c0002t0005a0003c0003t0004a0004c0004t0001others(8): Show | a0002c0002t0005g0307a0003c0003t0004g0313a0004c0004t0001g0216others(11): Show | 14 | 320 | 0.0438 | -6 | c.624 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58512699 | GTGTGTA | G | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(18): Show |
a0001a0002a0004others(9): Show | a0001c0006a0002c0002a0004c0004others(9): Show | a0001c0006t0009a0002c0002t0003a0002c0002t0005others(12): Show | a0001c0006t0009g0043a0001c0006t0009g0045a0002c0002t0003g0181others(18): Show | 21 | 320 | 0.0656 | -6 | c.602 others(25): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 10/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58528536 | CAAAAAT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0014a0023a0036others(3): Show | a0014c0011a0023c0026a0036c0047others(3): Show | a0014c0011t0003a0014c0011t0007a0023c0026t0001others(6): Show | a0014c0011t0003g0259a0014c0011t0007g0082a0014c0011t0007g0083others(9): Show | 12 | 320 | 0.0375 | -6 | c.550 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58553844 | TTTTTGG | T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(53): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0006a0001c0016others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0122a0001c0001t0001g0164a0001c0001t0001g0176others(53): Show | 56 | 320 | 0.1750 | -6 | c.196 others(27): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58613708 | AAATAAT | A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00735.hp1 others(23): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0014others(19): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(21): Show | a0001c0001t0001g0206a0002c0002t0001g0221a0002c0002t0003g0318others(23): Show | 26 | 320 | 0.0813 | -6 | c.-20 others(23): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58629563 | TCACACA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(92): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0006a0001c0016others(37): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0003others(47): Show | a0001c0001t0001g0155a0001c0001t0001g0164a0001c0001t0001g0169others(92): Show | 95 | 320 | 0.2969 | -6 | c.-82 others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 473 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58630612 | CACACAT | C | upstream_gene_variant | MODIFIER | HG02165.hp2 NA19084.hp2 NA19240.hp2 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0003 | a0001c0001t0001g0188a0001c0001t0001g0196a0009c0008t0003g0314 | 3 | 320 | 0.0094 | -6 | c.-18 others(17): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1522 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84838600 | CATTATT | C | intron_variant | MODIFIER | HG01070.hp2 HG02258.hp1 HG02280.hp2 others(10): Show |
a0001a0024 | a0001c0004a0001c0043a0024c0039 | a0001c0004t0001a0001c0004t0007a0001c0004t0010others(3): Show | a0001c0004t0001g0083a0001c0004t0001g0283a0001c0004t0007g0032others(8): Show | 13 | 340 | 0.0382 | -6 | c.305 others(21): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPK3_chr15_84812356_84878479 | 84847205 | CGGGGAG | C | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0007a0001c0004t0010 | a0001c0004t0007g0033a0001c0004t0007g0279a0001c0004t0007g0281others(1): Show | 5 | 340 | 0.0147 | -6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84847208 | GGAGAGA | G | intron_variant | MODIFIER | HG03453.hp1 HG03579.hp2 NA18939.hp1 others(7): Show |
a0001a0002a0027 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0008t0002others(1): Show | a0001c0001t0001g0138a0001c0001t0001g0217a0001c0002t0002g0006others(5): Show | 10 | 340 | 0.0294 | -6 | c.165 others(25): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21530954 | ATTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(98): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0013others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0257a0001c0001t0003g0066a0001c0001t0003g0067others(98): Show | 101 | 370 | 0.2730 | -6 | c.-10 others(27): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPP_chr2_232373751_232387889 | 232385162 | GGAGGAA | G | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG02630.hp1 others(1): Show |
a0002a0025 | a0002c0002a0025c0021 | a0002c0002t0001a0025c0021t0001 | a0002c0002t0001g0004a0025c0021t0001g0004 | 4 | 410 | 0.0098 | -6 | c.*33 others(17): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2274 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201719590 | AAAAAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0014 | a0001c0004a0002c0006a0014c0014 | a0001c0004t0001a0001c0004t0003a0002c0006t0001others(1): Show | a0001c0004t0001g0003a0001c0004t0001g0005a0001c0004t0001g0044others(18): Show | 23 | 354 | 0.0650 | -6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201720714 | AACACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(119): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0003t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(108): Show | 122 | 354 | 0.3446 | -6 | c.370 others(25): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 23/33 | chr2 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44287605 | AGAAAAG | A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02809.hp2 others(2): Show |
a0003 | a0003c0006a0003c0014a0003c0021 | a0003c0006t0009a0003c0006t0015a0003c0006t0032others(2): Show | a0003c0006t0009g0026a0003c0006t0015g0013a0003c0006t0032g0018others(2): Show | 5 | 388 | 0.0129 | -6 | c.467 others(25): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33989988 | ATTTATC | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(41): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0009others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0015others(7): Show | a0001c0001t0001g0096a0001c0001t0001g0144a0001c0001t0001g0157others(24): Show | 44 | 438 | 0.1005 | -6 | c.740 others(21): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70611484 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02572.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(4): Show | a0001c0001t0002g0045a0001c0001t0002g0132a0001c0002t0002g0126others(13): Show | 20 | 480 | 0.0417 | -6 | c.*47 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | CGTGTGT | C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02451.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0254a0001c0001t0001g0255a0001c0001t0002g0010others(4): Show | 12 | 454 | 0.0264 | -6 | c.603 others(23): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95946576 | GCTCCCC | G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG02965.hp2 others(6): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0059a0002c0003t0001g0062a0002c0003t0001g0072others(6): Show | 9 | 404 | 0.0223 | -6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2517713 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0022others(7): Show | 15 | 318 | 0.0472 | -6 | c.-27 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMDHD2_chr16_2515371_2536417 | 2517749 | GTGTGTC | G | upstream_gene_variant | MODIFIER | HG02280.hp2 HG02486.hp2 HG02647.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0006a0001c0002t0002g0030 | 10 | 318 | 0.0315 | -6 | c.-27 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2621 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189512 | GTGTATA | G | 3_prime_UTR_variant | MODIFIER | HG01928.hp1 HG01934.hp1 HG01978.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0031 | a0001c0001t0019g0024a0001c0001t0019g0137a0001c0001t0031g0021 | 5 | 243 | 0.0206 | -6 | c.*36 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 361 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | GTATATA | G | 3_prime_UTR_variant | MODIFIER | HG02683.hp1 HG03831.hp2 NA18964.hp1 others(4): Show |
a0001a0010 | a0001c0001a0001c0008a0010c0013 | a0001c0001t0008a0001c0001t0029a0001c0008t0008others(1): Show | a0001c0001t0008g0020a0001c0001t0008g0077a0001c0001t0029g0082others(3): Show | 7 | 243 | 0.0288 | -6 | c.*35 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 359 | chrX | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56361753 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01081.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033a0001c0001t0034others(2): Show | a0001c0001t0005g0006a0001c0001t0005g0007a0001c0001t0005g0009others(22): Show | 25 | 356 | 0.0702 | -6 | c.*11 others(17): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 14/14 | 1150 | chr16 | TogoVar | |||||
AMFR_chr16_56356452_56430545 | 56384703 | TACACAC | T | intron_variant | MODIFIER | HG01258.hp1 HG02630.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0003g0274a0001c0001t0006g0004a0001c0001t0013g0334others(3): Show | 6 | 356 | 0.0169 | -6 | c.138 others(25): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109510370 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(131): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0003g0003others(12): Show | 134 | 400 | 0.3350 | -6 | c.-10 others(17): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 644 | chr1 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109513895 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp2 others(70): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0002g0008others(11): Show | 73 | 400 | 0.1825 | -6 | c.-45 others(17): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 4169 | chr1 | TogoVar | ||||||
AMIGO2_chr12_47071447_47084959 | 47079341 | CGTTGTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp2 others(166): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(9): Show | a0001c0001t0001g0003a0001c0001t0004g0005a0001c0001t0010g0012others(9): Show | 169 | 480 | 0.3521 | -6 | c.-17 others(21): Show |
AMIGO2 | ENSG00000139211.7 | transcript | ENST00000550413.2 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127859466 | GAAAAAA | G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0003g0004a0001c0001t0003g0010a0001c0001t0003g0014others(9): Show | 19 | 334 | 0.0569 | -6 | c.*56 others(17): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2163 | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127877030 | TATATAC | T | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp1 HG00733.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0147a0001c0001t0003g0002a0001c0001t0003g0004others(55): Show | 105 | 334 | 0.3144 | -6 | c.-38 others(23): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1_chrX_110189186_110323085 | 110217502 | TACACAC | T | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG03225.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0002g0129others(2): Show | 5 | 155 | 0.0323 | -6 | c.585 others(21): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31710551 | TACACAC | T | intron_variant | MODIFIER | HG00621.hp2 HG01891.hp1 HG02040.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0282a0001c0001t0001g0323others(1): Show | 5 | 432 | 0.0116 | -6 | c.39- others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31722130 | GACACAC | G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00558.hp1 others(89): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0020others(80): Show | 92 | 432 | 0.2130 | -6 | c.38+ others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94779037 | ATATAAT | A | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG01346.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0009a0001c0001t0029a0001c0002t0002others(7): Show | a0001c0001t0009g0010a0001c0001t0009g0154a0001c0001t0009g0155others(46): Show | 51 | 246 | 0.2073 | -6 | c.49+ others(23): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94810831 | GACACAC | G | intron_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG02258.hp2 others(15): Show |
a0001a0006a0009 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(7): Show | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0003g0070others(15): Show | 18 | 246 | 0.0732 | -6 | c.112 others(27): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94840679 | TATACAC | T | intron_variant | MODIFIER | HG01123.hp2 HG01256.hp1 HG01346.hp2 others(33): Show |
a0001 | a0001c0002a0001c0018 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(5): Show | a0001c0002t0002g0002a0001c0002t0002g0011a0001c0002t0002g0012others(32): Show | 36 | 246 | 0.1463 | -6 | c.164 others(25): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AMOTL1_chr11_94763356_94881748 | 94873776 | TACACAC | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG03017.hp1 NA18970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0012a0001c0002t0036others(1): Show | a0001c0001t0012g0078a0001c0002t0012g0096a0001c0002t0012g0097others(3): Show | 6 | 246 | 0.0244 | -6 | c.*30 others(17): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3013 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |