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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALPK2_chr18_58476247_58634091 | 58536020 | AAAG | A | disruptive_inframe_deletion | MODERATE | 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 | -3 | c.416 others(12): Show |
p.Phe others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4514/7437 | 4164/6513 | 1388/2170 | chr18 | TogoVar | ||
ALPK2_chr18_58476247_58634091 | 58553850 | GTTT | G | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp2 HG02040.hp2 others(12): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(11): Show | a0001c0001t0001g0172a0001c0001t0003g0198a0002c0002t0001g0246others(12): Show | 15 | 320 | 0.0469 | -3 | c.196 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58571975 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(109): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0006a0001c0016others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(109): Show | 112 | 320 | 0.3500 | -3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58583737 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(117): Show |
a0001a0002a0005others(15): Show | a0001c0001a0001c0016a0002c0002others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(117): Show | 120 | 320 | 0.3750 | -3 | c.228 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58611291 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(229): Show |
a0001a0002a0003others(46): Show | a0001c0001a0001c0006a0001c0016others(64): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(111): Show | a0001c0001t0001g0155a0001c0001t0001g0164a0001c0001t0001g0169others(229): Show | 232 | 320 | 0.7250 | -3 | c.109 others(18): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58613698 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG02015.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(5): Show | a0001c0001t0001g0192a0001c0001t0002g0056a0002c0002t0003g0148others(5): Show | 8 | 320 | 0.0250 | -3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58613708 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(192): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0006a0001c0016others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(93): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(192): Show | 195 | 320 | 0.6094 | -3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58621592 | AAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01167.hp1 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0006a0002c0014a0004c0004others(3): Show | a0001c0006t0002a0001c0006t0009a0001c0006t0011others(5): Show | a0001c0006t0002g0044a0001c0006t0002g0047a0001c0006t0002g0048others(9): Show | 12 | 320 | 0.0375 | -3 | c.-21 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84850011 | AAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(48): Show |
a0003a0004a0006others(5): Show | a0003c0005a0003c0050a0004c0007others(7): Show | a0003c0005t0003a0003c0050t0003a0004c0007t0003others(9): Show | a0003c0005t0003g0004a0003c0005t0003g0011a0003c0005t0003g0013others(40): Show | 51 | 340 | 0.1500 | -3 | c.165 others(22): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21523999 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(207): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(206): Show | 210 | 370 | 0.5676 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21533935 | AAAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01074.hp2 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0107a0001c0001t0002g0198a0001c0001t0002g0360others(36): Show | 39 | 370 | 0.1054 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21536891 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(93): Show | 97 | 370 | 0.2622 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21561666 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(187): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0012others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0178a0001c0001t0002g0179a0001c0001t0002g0183others(186): Show | 190 | 370 | 0.5135 | -3 | c.297 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21563771 | TTGA | T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005a0001c0003t0019 | a0001c0003t0002g0071a0001c0003t0005g0072a0001c0003t0005g0082others(14): Show | 17 | 370 | 0.0460 | -3 | c.473 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21573446 | AAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(119): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0013a0002c0014others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0005a0002c0002t0001g0006a0002c0002t0001g0007others(119): Show | 122 | 370 | 0.3297 | -3 | c.863 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21575290 | GATC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(107): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0017others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0107a0001c0001t0002g0001others(105): Show | 110 | 370 | 0.2973 | -3 | c.998 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21580730 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(33): Show | a0001c0001t0001g0035a0001c0001t0001g0054a0001c0001t0001g0107others(265): Show | 270 | 370 | 0.7297 | -3 | c.*30 others(14): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2321 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385165 | GGAA | G | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01891.hp2 HG01978.hp2 others(3): Show |
a0002a0010 | a0002c0002a0010c0016 | a0002c0002t0001a0010c0016t0001 | a0002c0002t0001g0004a0002c0002t0001g0027a0010c0016t0001g0004 | 6 | 410 | 0.0146 | -3 | c.*33 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2277 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385251 | GGAA | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(61): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0009a0003c0003others(4): Show | a0001c0001t0001a0002c0009t0001a0003c0003t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0002c0009t0001g0014others(9): Show | 64 | 410 | 0.1561 | -3 | c.*34 others(14): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2363 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201725697 | CAGA | C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01943.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0238a0001c0001t0001g0242a0001c0001t0001g0251others(6): Show | 9 | 354 | 0.0254 | -3 | c.324 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 19/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201740536 | AAAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(120): Show |
a0001a0002a0006others(6): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(15): Show | a0001c0001t0001g0046a0001c0001t0001g0080a0001c0001t0001g0083others(117): Show | 123 | 354 | 0.3475 | -3 | c.235 others(22): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 11/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201750190 | AAAG | A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(39): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0015others(36): Show | 42 | 354 | 0.1186 | -3 | c.173 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 7/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201758740 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01081.hp1 others(13): Show |
a0002 | a0002c0005a0002c0006a0002c0020 | a0002c0005t0001a0002c0006t0001a0002c0020t0001 | a0002c0005t0001g0002a0002c0005t0001g0004a0002c0005t0001g0055others(10): Show | 16 | 354 | 0.0452 | -3 | c.111 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 4/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201770309 | CCTA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01257.hp2 others(7): Show |
a0001a0014 | a0001c0001a0001c0004a0014c0014 | a0001c0001t0001a0001c0004t0001a0014c0014t0001 | a0001c0001t0001g0046a0001c0004t0001g0003a0001c0004t0001g0044others(6): Show | 10 | 354 | 0.0283 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201771042 | ATTT | A | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0003c0007t0001 | a0001c0001t0003g0023a0001c0001t0003g0031a0003c0007t0001g0032others(4): Show | 7 | 354 | 0.0198 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201772278 | TAAC | T | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG02027.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(1): Show | a0001c0001t0001g0217a0001c0001t0003g0020a0001c0001t0003g0021others(9): Show | 12 | 354 | 0.0339 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALS2_chr2_201695267_201785933 | 201772850 | ATTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01070.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0205a0001c0001t0003g0031a0001c0002t0001g0071others(24): Show | 31 | 354 | 0.0876 | -3 | c.-60 others(20): Show |
ALS2 | ENSG00000003393.16 | transcript | ENST00000264276.11 | protein_coding | 1/33 | chr2 | TogoVar | ||||||
ALX1_chr12_85275220_85306784 | 85295943 | GTGT | G | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0038others(4): Show | 11 | 384 | 0.0287 | -3 | c.661 others(20): Show |
ALX1 | ENSG00000180318.4 | transcript | ENST00000316824.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALX3_chr1_110054870_110075672 | 110061318 | AGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0129a0001c0001t0001g0148others(6): Show | 10 | 422 | 0.0237 | -3 | c.723 others(18): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062642 | TGTG | T | intron_variant | MODIFIER | HG01517.hp1 HG01517.hp2 HG03490.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0139a0001c0001t0002g0041a0001c0001t0002g0074others(3): Show | 7 | 422 | 0.0166 | -3 | c.595 others(20): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44264044 | CCTT | C | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01168.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0002c0004others(5): Show | a0001c0002t0011a0001c0002t0019a0001c0002t0027others(15): Show | a0001c0002t0011g0178a0001c0002t0011g0293a0001c0002t0011g0296others(24): Show | 27 | 388 | 0.0696 | -3 | c.*80 others(12): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 4/4 | 807 | chr11 | TogoVar | |||||
ALX4_chr11_44255440_44315139 | 44293167 | GGAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(17): Show | a0001c0001t0001g0248a0001c0001t0001g0250a0001c0001t0001g0252others(26): Show | 29 | 388 | 0.0747 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44297009 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0003a0001c0001t0001g0203a0001c0001t0001g0227others(127): Show | 134 | 388 | 0.3454 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44299354 | GTTT | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0004 | a0001c0001t0001g0373a0001c0001t0001g0374a0001c0002t0003g0350others(5): Show | 8 | 388 | 0.0206 | -3 | c.466 others(22): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/3 | chr11 | TogoVar | ||||||
ALX4_chr11_44255440_44315139 | 44310286 | TCCC | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01258.hp2 others(20): Show |
a0003 | a0003c0006a0003c0010a0003c0014others(1): Show | a0003c0006t0003a0003c0006t0004a0003c0006t0007others(13): Show | a0003c0006t0003g0021a0003c0006t0003g0024a0003c0006t0003g0036others(20): Show | 23 | 388 | 0.0593 | -3 | c.-22 others(12): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 148 | chr11 | TogoVar | ||||||
ALYREF_chr17_81882835_81896586 | 81893755 | CTTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0003a0001c0004t0001 | a0001c0002t0001g0004a0001c0002t0001g0008a0001c0002t0003g0034others(1): Show | 8 | 322 | 0.0248 | -3 | c.-21 others(14): Show |
ALYREF | ENSG00000183684.8 | transcript | ENST00000505490.3 | protein_coding | 2170 | chr17 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33985072 | CATT | C | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19084.hp1 |
a0002a0014 | a0002c0002a0014c0015 | a0002c0002t0002a0014c0015t0012 | a0002c0002t0002g0003a0014c0015t0012g0036 | 3 | 438 | 0.0069 | -3 | c.*40 others(14): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 1092 | chr5 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33985756 | CATT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(213): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(31): Show | a0001c0001t0001g0008a0001c0001t0001g0017a0001c0001t0001g0096others(86): Show | 216 | 438 | 0.4932 | -3 | c.*33 others(14): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 408 | chr5 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33991029 | AATG | A | intron_variant | MODIFIER | HG02074.hp1 NA18944.hp1 NA18964.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0031a0001c0001t0006g0161a0001c0001t0006g0162others(1): Show | 6 | 438 | 0.0137 | -3 | c.740 others(20): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70588930 | TATA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(56): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0014a0001c0001t0001g0015others(22): Show | 59 | 480 | 0.1229 | -3 | c.-34 others(14): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3325 | chr4 | TogoVar | ||||||
AMBN_chr4_70587256_70612288 | 70602628 | CAGG | C | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(51): Show |
a0002a0008a0019others(2): Show | a0002c0003a0002c0005a0002c0018others(5): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(9): Show | a0002c0003t0001g0006a0002c0003t0001g0017a0002c0003t0001g0028others(35): Show | 54 | 480 | 0.1125 | -3 | c.539 others(10): Show |
p.Gly others(6): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 7/13 | 642/2005 | 539/1344 | 180/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
AMBN_chr4_70587256_70612288 | 70602727 | TTTA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00735.hp2 others(18): Show |
a0001a0003 | a0001c0004a0003c0027 | a0001c0004t0001a0003c0027t0002 | a0001c0004t0001g0008a0001c0004t0001g0067a0001c0004t0001g0152others(8): Show | 21 | 480 | 0.0438 | -3 | c.570 others(16): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBN_chr4_70587256_70612288 | 70604992 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(243): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(124): Show | 246 | 480 | 0.5125 | -3 | c.798 others(20): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMBP_chr9_114055127_114083300 | 114072132 | GAGA | G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0081a0001c0001t0001g0160a0001c0001t0001g0169others(12): Show | 20 | 454 | 0.0441 | -3 | c.556 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 5/9 | chr9 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114077304 | GCTC | G | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0004a0001c0010 | a0001c0004t0001a0001c0010t0001 | a0001c0004t0001g0305a0001c0004t0001g0306a0001c0010t0001g0307 | 3 | 454 | 0.0066 | -3 | c.118 others(18): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46444044 | TCTC | T | intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 HG02040.hp1 others(9): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0007 | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0041others(9): Show | 12 | 160 | 0.0750 | -3 | c.252 others(20): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46468389 | AAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02818.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(1): Show | 4 | 160 | 0.0250 | -3 | c.252 others(24): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46487335 | ATTG | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | -3 | c.252 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46489466 | AAAG | A | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02818.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0001g0005a0001c0003t0001g0006others(5): Show | 8 | 160 | 0.0500 | -3 | c.252 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 11/17 | chr11 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46503060 | CAAA | C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0004 | a0001c0003t0001g0004a0001c0003t0004g0008a0001c0003t0004g0009others(2): Show | 5 | 160 | 0.0313 | -3 | c.233 others(22): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 9/17 | chr11 | TogoVar |