view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200659793 | C | CACAT | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG03540.hp2 others(5): Show |
a0003a0013 | a0003c0003a0003c0018a0013c0024 | a0003c0003t0001a0003c0003t0004a0003c0018t0001others(1): Show | a0003c0003t0001g0224 a0003c0003t0001g0246 a0003c0003t0001g0247 others(5): Show |
8 | 368 | 0.0217 | 4 | c.330 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663545 | A | AACAC | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(52): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(52): Show |
55 | 334 | 0.1647 | 4 | c.354 others(21): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29324748 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00735.hp1 others(22): Show |
a0001 | a0001c0002a0001c0003a0001c0009 | a0001c0002t0001a0001c0003t0001a0001c0009t0001 | a0001c0002t0001g0011 a0001c0002t0001g0053 a0001c0002t0001g0249 others(22): Show |
25 | 77 | 0.3247 | 4 | c.*40 others(15): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2931 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29355460 | T | TAAAC | intron_variant | MODIFIER | HG00609.hp2 NA18975.hp2 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0225 |
3 | 374 | 0.0080 | 4 | c.717 others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 6/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACAC | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01192.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(5): Show | a0001c0001t0001g0184 a0001c0001t0001g0198 a0001c0001t0001g0212 others(21): Show |
24 | 95 | 0.2526 | 4 | c.37+ others(17): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29368713 | T | TGACG | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0003a0001c0010 | a0001c0003t0001a0001c0003t0003a0001c0010t0003 | a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 others(10): Show |
13 | 376 | 0.0346 | 4 | c.-27 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29374285 | G | GAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(258): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(244): Show |
261 | 376 | 0.6941 | 4 | c.-27 others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(84): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(77): Show |
87 | 262 | 0.3321 | 4 | c.-21 others(15): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736551 | A | ATTAT | intron_variant | MODIFIER | HG02523.hp1 HG02572.hp2 NA18962.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0040a0002c0002t0001others(1): Show | a0001c0001t0003g0293 a0001c0001t0003g0306 a0001c0001t0040g0238 others(3): Show |
6 | 154 | 0.0390 | 4 | c.226 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71744571 | G | GTTTT | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG02071.hp2 others(13): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0002c0002t0039a0003c0005t0001 | a0002c0002t0001g0048 a0002c0002t0001g0095 a0002c0002t0001g0111 others(13): Show |
16 | 48 | 0.3333 | 4 | c.199 others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 19/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01123.hp1 HG01255.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0006a0002c0002t0021others(1): Show | a0001c0001t0004g0040 a0002c0002t0006g0104 a0002c0002t0006g0105 others(5): Show |
8 | 64 | 0.1250 | 4 | c.-3- others(19): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71808204 | C | CAACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(274): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0002g0044 a0001c0001t0002g0133 a0001c0001t0002g0194 others(273): Show |
277 | 318 | 0.8711 | 4 | c.-4+ others(17): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71809908 | A | ATTTT | upstream_gene_variant | MODIFIER | HG01192.hp2 HG01358.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0009a0001c0004t0007 | a0001c0001t0005g0063 a0001c0001t0009g0085 a0001c0001t0009g0086 others(2): Show |
5 | 135 | 0.0370 | 4 | c.-11 others(15): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1075 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16214052 | C | CTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG00735.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(20): Show | a0001c0001t0005g0231 a0001c0001t0005g0242 a0001c0001t0005g0243 others(34): Show |
37 | 173 | 0.2139 | 4 | c.546 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16222595 | T | TTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(170): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(88): Show | a0001c0001t0005g0216 a0001c0001t0005g0219 a0001c0001t0005g0225 others(170): Show |
173 | 306 | 0.5654 | 4 | c.547 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16240242 | C | CTGTG | 3_prime_UTR_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0027a0001c0001t0128 | a0001c0001t0013g0180 a0001c0001t0027g0028 a0001c0001t0027g0029 others(1): Show |
4 | 288 | 0.0139 | 4 | c.*58 others(15): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16244837 | A | AAAAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(52): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(31): Show | a0001c0001t0005g0216 a0001c0001t0005g0219 a0001c0001t0005g0225 others(52): Show |
55 | 301 | 0.1827 | 4 | c.*10 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10429 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01081.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0026others(19): Show | a0001c0001t0003g0015 a0001c0001t0003g0173 a0001c0001t0003g0175 others(31): Show |
34 | 123 | 0.2764 | 4 | c.*15 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0004 | a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0070 others(31): Show |
34 | 42 | 0.8095 | 4 | c.*25 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10571167 | C | CTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00639.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0238 a0001c0002t0001g0020 a0001c0002t0001g0094 others(43): Show |
55 | 134 | 0.4104 | 4 | c.*18 others(15): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1503 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | C | CTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0047 others(30): Show |
37 | 48 | 0.7708 | 4 | c.889 others(17): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101159984 | G | GCACA | intron_variant | MODIFIER | HG01934.hp1 HG02622.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0042 |
4 | 120 | 0.0333 | 4 | c.430 others(19): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP1S1_chr7_101149476_101166276 | 101165786 | A | AAATG | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0070 a0001c0001t0006g0001 a0001c0001t0006g0022 |
7 | 430 | 0.0163 | 4 | c.*52 others(15): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4511 | chr7 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATAT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG01109.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0078 others(3): Show |
12 | 193 | 0.0622 | 4 | c.427 others(21): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223756403 | A | AAGGG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00609.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0023others(3): Show | a0001c0001t0007g0023 a0001c0001t0007g0028 a0001c0001t0007g0069 others(21): Show |
24 | 338 | 0.0710 | 4 | c.*23 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2311 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756449 | A | AAAAG | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0006 | a0001c0001t0006g0323 a0001c0001t0006g0336 a0001c0003t0006g0320 |
3 | 338 | 0.0089 | 4 | c.*22 others(15): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2265 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACAC | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01884.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(4): Show | a0001c0001t0005g0269 a0001c0001t0005g0298 a0001c0001t0006g0060 others(12): Show |
15 | 26 | 0.5769 | 4 | c.292 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223770727 | A | ATTTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01109.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(8): Show | a0001c0001t0003g0030 a0001c0001t0003g0034 a0001c0001t0003g0037 others(35): Show |
38 | 82 | 0.4634 | 4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223774372 | T | TAATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(60): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(17): Show | a0001c0001t0002g0321 a0001c0001t0004g0009 a0001c0001t0004g0070 others(60): Show |
63 | 67 | 0.9403 | 4 | c.291 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATAT | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp1 HG01515.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0151 others(10): Show |
13 | 257 | 0.0506 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780347 | A | AGTGT | intron_variant | MODIFIER | HG01993.hp2 HG02300.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0003g0019 a0001c0001t0008g0243 a0001c0001t0016g0046 others(2): Show |
5 | 270 | 0.0185 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780349 | A | AGTGT | intron_variant | MODIFIER | HG02572.hp2 NA18947.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 a0001c0001t0002g0079 a0001c0001t0002g0084 others(1): Show |
4 | 224 | 0.0179 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780353 | A | AGTGT | intron_variant | MODIFIER | HG00438.hp1 HG02109.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0050 a0001c0001t0002g0097 a0001c0001t0005g0334 |
3 | 145 | 0.0207 | 4 | c.4-2 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223789674 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01981.hp1 HG02056.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0054others(3): Show | a0001c0001t0002g0007 a0001c0001t0002g0038 a0001c0001t0002g0061 others(8): Show |
11 | 279 | 0.0394 | 4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223794984 | C | CAGTG | intron_variant | MODIFIER | NA18964.hp2 NA19001.hp1 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0237 a0001c0001t0010g0274 a0001c0001t0010g0275 |
3 | 338 | 0.0089 | 4 | c.4-1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACAC | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01361.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0203 a0001c0001t0005g0264 a0001c0001t0005g0269 others(6): Show |
9 | 43 | 0.2093 | 4 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(37): Show |
41 | 173 | 0.2370 | 4 | c.3+2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223825312 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00639.hp2 others(61): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0120 a0001c0001t0001g0122 others(60): Show |
64 | 210 | 0.3048 | 4 | c.3+1 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTG | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01070.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0249 a0001c0001t0001g0295 a0001c0001t0001g0296 others(11): Show |
14 | 196 | 0.0714 | 4 | c.3+5 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833239 | A | AAAAT | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG01168.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 others(22): Show |
25 | 337 | 0.0742 | 4 | c.3+4 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATAC | intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02257.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 others(27): Show |
30 | 124 | 0.2419 | 4 | c.3+4 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833882 | T | TTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(89): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0052 others(89): Show |
92 | 198 | 0.4646 | 4 | c.3+3 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A1_chr19_49762001_49812114 | 49767008 | A | AGCCC | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG00642.hp2 others(42): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0002a0001c0006t0002a0001c0007t0002others(1): Show | a0001c0001t0002g0006 a0001c0001t0002g0023 a0001c0001t0002g0024 others(41): Show |
45 | 340 | 0.1324 | 4 | c.-12 others(13): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/23 | 121 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A1_chr19_49762001_49812114 | 49777076 | G | GAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01074.hp2 others(56): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0092 others(53): Show |
59 | 322 | 0.1832 | 4 | c.68- others(19): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49800449 | T | TTTTG | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(22): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0002c0008t0001 | a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0021 others(19): Show |
25 | 340 | 0.0735 | 4 | c.145 others(21): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 921972 | C | CAAAG | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(90): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(90): Show |
93 | 266 | 0.3496 | 4 | c.-40 others(15): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 3897 | chr11 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 974682 | C | CAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(2): Show | a0001c0002t0002g0225 a0001c0002t0002g0232 a0001c0002t0002g0233 others(16): Show |
19 | 247 | 0.0769 | 4 | c.474 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 974698 | A | AAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0094 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show |
6 | 154 | 0.0390 | 4 | c.474 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 984125 | C | CACTT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0009 | a0001c0002t0002g0004 a0001c0002t0002g0005 a0001c0004t0009g0259 others(1): Show |
4 | 266 | 0.0150 | 4 | c.706 others(19): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTC | upstream_gene_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0004g0158 a0001c0001t0005g0146 a0001c0001t0005g0155 others(17): Show |
20 | 87 | 0.2299 | 4 | c.-39 others(15): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar |