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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
APOBEC3F_chr22_39035864_39060972 | 39045429 | A | C | missense_variant others(1): Show |
MODERATE | HG02738.hp2 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0154 | 1 | 422 | 0.0024 | 0 | c.453 others(3): Show |
p.Glu others(6): Show |
APOBEC3F | ENSG00000128394.17 | transcript | ENST00000308521.10 | protein_coding | 4/7 | 550/4496 | 453/1122 | 151/373 | chr22 | TogoVar | ||
APOBEC3H_chr22_39092244_39109067 | 39097351 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00639.hp1 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0010others(4): Show | a0001c0001t0005a0001c0001t0013a0002c0002t0003others(7): Show | a0001c0001t0005g0019a0001c0001t0013g0019a0002c0002t0003g0006others(32): Show | 83 | 418 | 0.1986 | 0 | c.-8+ others(4): Show |
APOBEC3H | ENSG00000100298.16 | transcript | ENST00000442487.8 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
APOB_chr2_20996429_21049073 | 21004459 | G | A | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG01934.hp1 HG02280.hp2 others(9): Show |
a0014a0019a0033others(3): Show | a0014c0018a0019c0023a0033c0025others(3): Show | a0014c0018t0001a0019c0023t0001a0033c0025t0001others(3): Show | a0014c0018t0001g0050a0014c0018t0001g0051a0019c0023t0001g0108others(6): Show | 12 | 350 | 0.0343 | 0 | c.119 others(7): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 27/28 | chr2 | TogoVar | ||||||
APOB_chr2_20996429_21049073 | 21026785 | C | T | splice_region_variant others(1): Show |
LOW | HG01255.hp1 HG01891.hp1 HG02486.hp2 others(1): Show |
a0015 | a0015c0022a0015c0069 | a0015c0022t0001a0015c0069t0001 | a0015c0022t0001g0029a0015c0022t0001g0105a0015c0069t0001g0133 | 4 | 350 | 0.0114 | 0 | c.224 others(6): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
APOB_chr2_20996429_21049073 | 21041083 | C | G | missense_variant others(1): Show |
MODERATE | NA18948.hp2 | a0035 | a0035c0063 | a0035c0063t0001 | a0035c0063t0001g0135 | 1 | 350 | 0.0029 | 0 | c.238 others(3): Show |
p.Val others(5): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 4/29 | 366/14121 | 238/13692 | 80/4563 | chr2 | TogoVar | ||
APOB_chr2_20996429_21049073 | 21041089 | A | G | splice_region_variant others(1): Show |
LOW | HG03688.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0217 | 2 | 350 | 0.0057 | 0 | c.238 others(5): Show |
APOB | ENSG00000084674.15 | transcript | ENST00000233242.5 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
APOC1_chr19_44909608_44924346 | 44914737 | G | A | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG00673.hp2 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0060 | 3 | 436 | 0.0069 | 0 | c.-21 others(5): Show |
APOC1 | ENSG00000130208.10 | transcript | ENST00000592535.6 | protein_coding | 1/3 | chr19 | TogoVar | ||||||
APOC2_chr19_44941051_44954565 | 44948697 | G | C | splice_region_variant others(1): Show |
LOW | HG00738.hp2 HG02572.hp2 HG02622.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0005c0004t0003 | a0001c0001t0003g0027a0001c0001t0003g0049a0001c0001t0003g0062others(1): Show | 4 | 398 | 0.0101 | 0 | c.56- others(4): Show |
APOC2 | ENSG00000234906.11 | transcript | ENST00000252490.7 | protein_coding | 2/3 | chr19 | TogoVar | ||||||
APOD_chr3_195563705_195588940 | 195579498 | G | C | splice_region_variant others(1): Show |
LOW | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0070 | 1 | 438 | 0.0023 | 0 | c.-34 others(5): Show |
APOD | ENSG00000189058.9 | transcript | ENST00000343267.8 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
APOH_chr17_66207033_66234415 | 66220748 | A | C | splice_region_variant others(1): Show |
LOW | NA18966.hp2 NA18984.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0128a0002c0002t0001g0133 | 2 | 386 | 0.0052 | 0 | c.416 others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
APOH_chr17_66207033_66234415 | 66226121 | CTGGCTGT others(17): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG01069.hp2 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0107 | 1 | 386 | 0.0026 | -24 | c.242 others(34): Show |
p.Pro others(5): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/8 | 280/1174 | 242/1038 | 81/345 | chr17 | TogoVar | ||
APOH_chr17_66207033_66234415 | 66229308 | G | A | splice_region_variant others(1): Show |
LOW | HG02486.hp2 HG02976.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345a0001c0001t0001g0346a0001c0001t0001g0347others(1): Show | 4 | 386 | 0.0104 | 0 | c.64+ others(4): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
APOL2_chr22_36221209_36244527 | 36231334 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02055.hp2 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0045 | a0001c0001t0012g0013a0001c0001t0017g0091a0001c0001t0017g0164others(1): Show | 8 | 384 | 0.0208 | 0 | c.137 others(5): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 4/4 | chr22 | TogoVar | ||||||
APOL2_chr22_36221209_36244527 | 36239298 | CGGCTCTG others(622): Show |
C | splice_donor_variant others(4): Show |
HIGH | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0055 | 1 | 384 | 0.0026 | -629 | c.-62 others(13): Show |
APOL2 | ENSG00000128335.14 | transcript | ENST00000358502.10 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
APOL4_chr22_36184128_36206809 | 36201695 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02809.hp2 |
a0006 | a0006c0011 | a0006c0011t0014 | a0006c0011t0014g0029 | 2 | 434 | 0.0046 | 0 | c.35+ others(4): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
APOLD1_chr12_12780659_12796466 | 12786902 | C | A | splice_region_variant others(1): Show |
LOW | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 428 | 0.0023 | 0 | c.4-7 others(3): Show |
APOLD1 | ENSG00000178878.13 | transcript | ENST00000356591.5 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
APOM_chr6_31650894_31663210 | 31657730 | G | T | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00597.hp1 HG00621.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(5): Show | 75 | 419 | 0.1790 | 0 | c.541 others(5): Show |
APOM | ENSG00000204444.11 | transcript | ENST00000375916.4 | protein_coding | 5/5 | chr6 | TogoVar | ||||||
APOM_chr6_31650894_31663210 | 31658209 | C | T | splice_region_variant | LOW | HG03209.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 419 | 0.0048 | 0 | c.*12 others(4): Show |
APOM | ENSG00000204444.11 | transcript | ENST00000375916.4 | protein_coding | 6/6 | chr6 | TogoVar | ||||||
APOOL_chrX_84998877_85098315 | 85051374 | A | AT | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01081.hp2 HG01109.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(11): Show | a0001c0001t0004g0224a0001c0001t0004g0226a0001c0001t0004g0227others(25): Show | 28 | 256 | 0.1094 | 1 | c.121 others(6): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
APOOL_chrX_84998877_85098315 | 85055932 | T | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0033 | a0001c0001t0032g0008a0001c0001t0033g0009 | 2 | 256 | 0.0078 | 0 | c.394 others(5): Show |
APOOL | ENSG00000155008.16 | transcript | ENST00000373173.7 | protein_coding | 5/8 | chrX | TogoVar | ||||||
APOO_chrX_23828353_23912938 | 23833352 | AT | A | splice_region_variant | LOW | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0269 | 1 | 269 | 0.0037 | -1 | c.*28 others(5): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 9/9 | chrX | TogoVar | ||||||
APPL1_chr3_57222729_57278471 | 57238122 | C | T | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG01891.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0014 | a0001c0001t0004g0010a0001c0001t0004g0030a0001c0001t0004g0031others(14): Show | 22 | 266 | 0.0827 | 0 | c.285 others(5): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 4/21 | chr3 | TogoVar | ||||||
APPL1_chr3_57222729_57278471 | 57246227 | A | G | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01169.hp2 HG01891.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0004g0010a0001c0001t0004g0030a0001c0001t0004g0031others(18): Show | 28 | 266 | 0.1053 | 0 | c.621 others(5): Show |
APPL1 | ENSG00000157500.12 | transcript | ENST00000288266.8 | protein_coding | 8/21 | chr3 | TogoVar | ||||||
APPL2_chr12_105168300_105241174 | 105195505 | T | C | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG02027.hp2 HG02071.hp2 others(14): Show |
a0001a0011 | a0001c0004a0011c0015 | a0001c0004t0006a0011c0015t0006 | a0001c0004t0006g0004a0001c0004t0006g0100a0001c0004t0006g0102others(12): Show | 17 | 392 | 0.0434 | 0 | c.109 others(6): Show |
APPL2 | ENSG00000136044.12 | transcript | ENST00000258530.8 | protein_coding | 12/20 | chr12 | TogoVar | ||||||
APRT_chr16_88804339_88816928 | 88811552 | G | A | missense_variant others(1): Show |
MODERATE | HG03195.hp1 | a0005 | a0005c0008 | a0005c0008t0004 | a0005c0008t0004g0076 | 1 | 438 | 0.0023 | 0 | c.185 others(3): Show |
p.Ala others(5): Show |
APRT | ENSG00000198931.11 | transcript | ENST00000378364.8 | protein_coding | 2/5 | 214/931 | 185/543 | 62/180 | chr16 | TogoVar | ||
APTX_chr9_32967616_33006628 | 32986032 | TAAAAAAA others(17): Show |
T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 388 | 0.0026 | -24 | c.484 others(36): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
APTX_chr9_32967616_33006628 | 32986033 | AAAAAAAA others(15): Show |
A | splice_region_variant others(1): Show |
LOW | HG01074.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171a0001c0001t0001g0191 | 2 | 388 | 0.0052 | -22 | c.484 others(34): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
APTX_chr9_32967616_33006628 | 32986034 | AAAAAAAA others(14): Show |
A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(92): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0008others(57): Show | 95 | 388 | 0.2449 | -21 | c.484 others(33): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
APTX_chr9_32967616_33006628 | 32986035 | AAAAAAAA others(13): Show |
A | splice_region_variant others(1): Show |
LOW | HG00544.hp1 HG02165.hp1 NA18612.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0154a0001c0001t0001g0159others(4): Show | 8 | 388 | 0.0206 | -20 | c.484 others(32): Show |
APTX | ENSG00000137074.20 | transcript | ENST00000379817.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
AQP10_chr1_154316093_154330325 | 154323118 | T | C | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0004 | 9 | 394 | 0.0228 | 0 | c.369 others(3): Show |
p.His others(6): Show |
AQP10 | ENSG00000143595.13 | transcript | ENST00000324978.8 | protein_coding | 3/6 | 432/1814 | 369/906 | 123/301 | chr1 | TogoVar | ||
AQP12A_chr2_240686866_240703483 | 240692042 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
a0002a0005a0008others(4): Show | a0002c0002a0002c0007a0005c0004others(5): Show | a0002c0002t0002a0002c0007t0002a0005c0004t0002others(5): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 53 | 171 | 0.3099 | 0 | c.123 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
AQP12A_chr2_240686866_240703483 | 240692066 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
a0002a0005a0008others(4): Show | a0002c0002a0002c0007a0005c0004others(5): Show | a0002c0002t0002a0002c0007t0002a0005c0004t0002others(5): Show | a0002c0002t0002g0003a0002c0002t0002g0005a0002c0002t0002g0008others(21): Show | 53 | 171 | 0.3099 | 0 | c.124 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | TogoVar | ||||||
AQP12A_chr2_240686866_240703483 | 240692519 | C | T | missense_variant others(1): Show |
MODERATE | HG00323.hp2 HG02280.hp1 HG02451.hp1 others(9): Show |
a0006 | a0006c0005a0006c0013 | a0006c0005t0001a0006c0013t0001 | a0006c0005t0001g0006a0006c0005t0001g0012a0006c0005t0001g0024others(3): Show | 12 | 171 | 0.0702 | 0 | c.569 others(3): Show |
p.Thr others(6): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 617/1063 | 569/888 | 190/295 | chr2 | TogoVar | ||
AQP12A_chr2_240686866_240703483 | 240694556 | G | T | splice_region_variant others(1): Show |
LOW | HG03516.hp1 | a0015 | a0015c0020 | a0015c0020t0001 | a0015c0020t0001g0067 | 1 | 171 | 0.0059 | 0 | c.688 others(5): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
AQP2_chr12_49945737_49963878 | 49951193 | G | A | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(115): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0003g0029a0001c0001t0004g0021a0001c0001t0011g0015others(15): Show | 118 | 442 | 0.2670 | 0 | c.360 others(5): Show |
AQP2 | ENSG00000167580.8 | transcript | ENST00000199280.4 | protein_coding | 1/3 | chr12 | TogoVar | ||||||
AQP3_chr9_33436160_33452593 | 33442976 | G | C | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0096 | 1 | 462 | 0.0022 | 0 | c.374 others(5): Show |
AQP3 | ENSG00000165272.16 | transcript | ENST00000297991.6 | protein_coding | 3/5 | chr9 | TogoVar | ||||||
AQP7B_chr2_94582311_94609628 | 94604251 | TCAGCCCC others(55): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0169 | 1 | 384 | 0.0026 | -62 | c.756 others(72): Show |
p.Asp others(5): Show |
AQP7B | ENSG00000259916.2 | transcript | ENST00000561882.2 | protein_coding | 8/8 | 756/1041 | 252/346 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
AQP7_chr9_33378191_33407568 | 33386069 | C | G | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02896.hp1 HG02897.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0051others(3): Show | 8 | 438 | 0.0183 | 0 | c.525 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 6/7 | chr9 | TogoVar | ||||||
AQP7_chr9_33378191_33407568 | 33386397 | T | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(430): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(350): Show | 433 | 438 | 0.9886 | 0 | c.406 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
AQP7_chr9_33378191_33407568 | 33386398 | A | G | splice_region_variant others(1): Show |
LOW | HG04204.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0262 | 1 | 438 | 0.0023 | 0 | c.406 others(5): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
AQP7_chr9_33378191_33407568 | 33395198 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(433): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0006others(352): Show | 436 | 438 | 0.9954 | 0 | c.27- others(4): Show |
AQP7 | ENSG00000165269.13 | transcript | ENST00000297988.6 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
AQP8_chr16_25211947_25233932 | 25217193 | G | A | splice_region_variant others(1): Show |
LOW | NA18964.hp2 NA18970.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060 | 3 | 420 | 0.0071 | 0 | c.13- others(4): Show |
AQP8 | ENSG00000103375.11 | transcript | ENST00000219660.6 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34857112 | T | TA | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG01891.hp2 HG02027.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0018others(13): Show | a0001c0001t0002g0202a0001c0001t0010g0067a0001c0001t0010g0262others(23): Show | 26 | 312 | 0.0833 | 1 | c.414 others(7): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 34/34 | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34857112 | TA | T | splice_region_variant others(1): Show |
LOW | HG00741.hp1 HG01884.hp2 HG02145.hp2 others(4): Show |
a0002 | a0002c0003a0002c0009a0002c0013 | a0002c0003t0033a0002c0009t0012a0002c0013t0034others(1): Show | a0002c0003t0033g0037a0002c0009t0012g0275a0002c0009t0012g0276others(4): Show | 7 | 312 | 0.0224 | -1 | c.414 others(7): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 34/34 | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34896970 | C | T | splice_region_variant others(1): Show |
LOW | HG02257.hp1 HG03209.hp1 HG03540.hp2 |
a0001 | a0001c0008 | a0001c0008t0021a0001c0008t0044 | a0001c0008t0021g0176a0001c0008t0021g0177a0001c0008t0044g0175 | 3 | 312 | 0.0096 | 0 | c.239 others(6): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 21/34 | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34900868 | C | G | splice_region_variant others(1): Show |
LOW | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 312 | 0.0032 | 0 | c.200 others(6): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 19/34 | chr15 | TogoVar | ||||||
AQR_chr15_34846782_34974742 | 34938733 | A | ATAGT | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(207): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(207): Show | 210 | 312 | 0.6731 | 4 | c.718 others(15): Show |
AQR | ENSG00000021776.11 | transcript | ENST00000156471.10 | protein_coding | 9/34 | chr15 | TogoVar | ||||||
ARAF_chrX_47556205_47576908 | 47566919 | C | A | splice_region_variant others(1): Show |
LOW | HG02257.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 2 | 318 | 0.0063 | 0 | c.727 others(5): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 8/15 | chrX | TogoVar | ||||||
ARAF_chrX_47556205_47576908 | 47566981 | T | C | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02976.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0066a0001c0001t0001g0099a0001c0001t0001g0112others(3): Show | 6 | 318 | 0.0189 | 0 | c.728 others(5): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 8/15 | chrX | TogoVar | ||||||
ARAF_chrX_47556205_47576908 | 47570870 | GC | G | splice_region_variant others(1): Show |
LOW | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0086 | 1 | 318 | 0.0031 | -1 | c.155 others(7): Show |
ARAF | ENSG00000078061.14 | transcript | ENST00000377045.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar |