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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1B_chr12_51946699_52002078 | 51974447 | TACCC | T | intron_variant | MODIFIER | HG00738.hp2 HG01258.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0131a0001c0001t0002g0132a0001c0001t0002g0133others(1): Show | 4 | 324 | 0.0124 | -4 | c.92- others(17): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51987190 | TAAAC | T | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01496.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0081others(6): Show | 9 | 324 | 0.0278 | -4 | c.126 others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1B_chr12_51946699_52002078 | 51993765 | TAAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00609.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0019a0001c0001t0001g0021a0001c0001t0001g0024others(19): Show | 26 | 324 | 0.0803 | -4 | c.139 others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVR1C_chr2_157521767_157633864 | 157540168 | CTAAG | C | intron_variant | MODIFIER | HG02109.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0165a0001c0001t0011g0166 | 2 | 216 | 0.0093 | -4 | c.122 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | GAGAA | G | intron_variant | MODIFIER | HG02970.hp1 HG03195.hp2 HG03579.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0023others(2): Show | a0001c0001t0001g0196a0001c0001t0003g0181a0001c0001t0003g0189others(3): Show | 6 | 216 | 0.0278 | -4 | c.544 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554382 | GGGAA | G | intron_variant | MODIFIER | HG01261.hp1 HG02559.hp1 NA18522.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002a0002c0003t0026 | a0001c0002t0001g0101a0002c0003t0002g0006a0002c0003t0026g0107 | 3 | 216 | 0.0139 | -4 | c.544 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157556657 | CTTTT | C | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0001a0001c0002t0004a0002c0003t0002others(2): Show | a0001c0002t0001g0121a0001c0002t0001g0128a0001c0002t0001g0208others(4): Show | 7 | 216 | 0.0324 | -4 | c.305 others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157588236 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(28): Show | a0001c0001t0001g0147a0001c0002t0001g0041a0001c0002t0001g0042others(98): Show | 102 | 216 | 0.4722 | -4 | c.74- others(17): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | CATAT | C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0005 | a0001c0002t0001a0001c0002t0005a0002c0003t0002others(5): Show | a0001c0002t0001g0027a0001c0002t0001g0030a0001c0002t0001g0032others(11): Show | 14 | 216 | 0.0648 | -4 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157593804 | AAAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG02723.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0006a0002c0003t0014 | a0002c0003t0006g0081a0002c0003t0006g0102a0002c0003t0006g0103others(2): Show | 5 | 216 | 0.0232 | -4 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | TACAC | T | upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG01884.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(15): Show | 18 | 216 | 0.0833 | -4 | c.-94 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157751858 | TTCTC | T | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0020 | a0001c0002t0018g0148a0001c0002t0020g0163 | 2 | 174 | 0.0115 | -4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157757041 | TATAA | T | intron_variant | MODIFIER | NA18965.hp2 NA18978.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0082a0001c0001t0001g0131a0001c0002t0001g0124others(1): Show | 4 | 174 | 0.0230 | -4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157795377 | AACAC | A | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp1 HG01255.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0131others(32): Show | 35 | 174 | 0.2012 | -4 | c.67+ others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157826908 | AAAGG | A | intron_variant | MODIFIER | HG01884.hp1 NA20752.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0013a0001c0001t0002g0078a0001c0001t0007g0076 | 3 | 174 | 0.0172 | -4 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157828762 | TTTTG | T | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp2 HG02145.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(12): Show | a0001c0001t0002g0154a0001c0002t0001g0029a0001c0002t0001g0031others(39): Show | 42 | 174 | 0.2414 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGTGT | A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02451.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(6): Show | a0001c0001t0002g0062a0001c0002t0001g0100a0001c0002t0001g0101others(10): Show | 13 | 174 | 0.0747 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157855323 | TACAC | T | intron_variant | MODIFIER | HG01074.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0002g0086a0001c0001t0002g0154a0001c0002t0001g0145others(5): Show | 8 | 174 | 0.0460 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157862422 | TACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(48): Show | 51 | 174 | 0.2931 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(53): Show | 56 | 174 | 0.3218 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157863336 | CTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0003others(8): Show | a0001c0001t0010g0003a0001c0002t0001g0024a0001c0002t0001g0098others(16): Show | 19 | 174 | 0.1092 | -4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157865821 | AAGAT | A | intron_variant | MODIFIER | HG00438.hp1 HG02145.hp2 HG02155.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(5): Show | a0001c0001t0001g0131a0001c0001t0002g0129a0001c0001t0002g0154others(14): Show | 17 | 174 | 0.0977 | -4 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157875488 | AACAC | A | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(3): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0003a0001c0004t0009a0001c0005t0001others(1): Show | a0001c0002t0003g0158a0001c0002t0003g0159a0001c0004t0009g0161others(3): Show | 6 | 174 | 0.0345 | -4 | c.-18 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ACVR1_chr2_157731446_157881330 | 157878760 | AGTGT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0042others(63): Show | 66 | 174 | 0.3793 | -4 | c.-31 others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2431 | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147870904 | TTTAA | T | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014a0001c0001t0004g0264a0001c0001t0004g0265others(3): Show | 7 | 338 | 0.0207 | -4 | c.56- others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147873660 | GAGAC | G | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(1): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(31): Show | 42 | 338 | 0.1243 | -4 | c.56- others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147881639 | GTGTA | G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG00741.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0004g0190a0001c0001t0005g0123a0001c0001t0005g0205others(21): Show | 24 | 338 | 0.0710 | -4 | c.56- others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147906818 | ATTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0179a0001c0001t0004g0180a0001c0001t0004g0198others(5): Show | 8 | 338 | 0.0237 | -4 | c.528 others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147913268 | TTAAC | T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0198a0001c0001t0004g0199a0001c0001t0004g0288others(1): Show | 4 | 338 | 0.0118 | -4 | c.529 others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2A_chr2_147840029_147935822 | 147913822 | CAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00673.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0003others(33): Show | 44 | 338 | 0.1302 | -4 | c.529 others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38462210 | TAAAC | T | intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 NA19086.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0147a0001c0003t0012g0148a0001c0003t0012g0160others(1): Show | 4 | 410 | 0.0098 | -4 | c.52+ others(19): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38485666 | CTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01168.hp1 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0092a0001c0002t0093 | a0001c0002t0004g0001a0001c0002t0004g0179a0001c0002t0092g0169others(1): Show | 13 | 410 | 0.0317 | -4 | c.*23 others(15): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2358 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TACAC | T | 3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG01169.hp2 HG01928.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0071a0001c0001t0122others(1): Show | a0001c0001t0055g0005a0001c0001t0055g0144a0001c0001t0071g0017others(2): Show | 5 | 410 | 0.0122 | -4 | c.*94 others(15): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9469 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVR2B_chr3_38448890_38498142 | 38493009 | CAAAT | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | -4 | c.*96 others(15): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9681 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
ACVRL1_chr12_51902504_51928361 | 51919363 | CTGTG | C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01081.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0150others(18): Show | 49 | 438 | 0.1119 | -4 | c.137 others(21): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACVRL1_chr12_51902504_51928361 | 51928003 | ATAAC | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0007others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0008a0001c0001t0002g0025others(25): Show | 75 | 438 | 0.1712 | -4 | c.*71 others(15): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 4643 | chr12 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67638210 | AAAAT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 NA19030.hp2 NA20300.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0008a0002c0002t0003a0002c0002t0004others(1): Show | a0001c0001t0008g0057a0002c0002t0003g0056a0002c0002t0004g0055others(1): Show | 4 | 396 | 0.0101 | -4 | c.*45 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4344 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67642247 | ACTGT | A | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01884.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0011a0002c0002t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0014others(12): Show | 26 | 396 | 0.0657 | -4 | c.*47 others(13): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 307 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67644732 | CCACA | C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(17): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0004a0002c0009t0004 | a0002c0002t0001g0006a0002c0002t0001g0083a0002c0002t0001g0084others(8): Show | 20 | 396 | 0.0505 | -4 | c.744 others(17): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/7 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67649641 | TGTGC | T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(19): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(2): Show | a0002c0002t0001g0006a0002c0002t0001g0060a0002c0002t0001g0137others(10): Show | 22 | 396 | 0.0556 | -4 | c.-95 others(19): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67649818 | GTGCA | G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG01070.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0004a0002c0002t0003a0002c0003t0003 | a0001c0001t0004g0010a0002c0002t0003g0003a0002c0002t0003g0043others(2): Show | 27 | 396 | 0.0682 | -4 | c.-95 others(19): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67649933 | CGTGT | C | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02145.hp2 others(19): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(2): Show | a0002c0002t0001g0006a0002c0002t0001g0060a0002c0002t0001g0137others(10): Show | 22 | 396 | 0.0556 | -4 | c.-95 others(19): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67652014 | CAAAA | C | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02615.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0122a0002c0002t0001g0084others(6): Show | 15 | 396 | 0.0379 | -4 | c.-15 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1285 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67652205 | AAAAT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(122): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(51): Show | 125 | 396 | 0.3157 | -4 | c.-17 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1476 | chr11 | TogoVar | ||||||
ACY3_chr11_67637555_67655730 | 67655019 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00642.hp2 others(34): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0014a0001c0001t0004g0010a0001c0001t0004g0017others(10): Show | 37 | 396 | 0.0934 | -4 | c.-45 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4290 | chr11 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75062659 | CAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0017a0001c0001t0001g0027others(13): Show | 22 | 322 | 0.0683 | -4 | c.84+ others(17): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | ||||||
ACYP1_chr14_75048243_75069024 | 75067182 | TACAC | T | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0007others(11): Show | 16 | 322 | 0.0497 | -4 | c.-32 others(15): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 3159 | chr14 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53973855 | ATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(28): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0169others(28): Show | 31 | 272 | 0.1140 | -4 | c.62+ others(15): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 53982828 | CTGTG | C | intron_variant | MODIFIER | HG01978.hp1 HG02717.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(1): Show | a0001c0001t0001g0219a0001c0001t0001g0220a0001c0001t0001g0237others(5): Show | 8 | 272 | 0.0294 | -4 | c.62+ others(19): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACYP2_chr2_53966113_54310300 | 53992074 | CCCTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01099.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0004g0272a0001c0002t0001g0099a0001c0002t0003g0064others(26): Show | 29 | 272 | 0.1066 | -4 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |