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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA4_chr2_69737134_69832112 | 69826923 | CAAGAT | C | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG03098.hp2 HG03195.hp1 |
a0002 | a0002c0002 | a0002c0002t0010a0002c0002t0013 | a0002c0002t0010g0018a0002c0002t0010g0220a0002c0002t0013g0129 | 3 | 346 | 0.0087 | -5 | c.*14 others(16): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 13/13 | 1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ANXA5_chr4_121662946_121701980 | 121691171 | TTATAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(147): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0005a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(78): Show | 150 | 338 | 0.4438 | -5 | c.10- others(20): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121694105 | GGGGGA | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0007a0001c0001t0002g0017others(30): Show | 57 | 338 | 0.1686 | -5 | c.9+2 others(18): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73373994 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02896.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0062a0001c0001t0001g0214others(2): Show | 5 | 264 | 0.0189 | -5 | c.*20 others(16): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1106 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73377569 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022a0001c0001t0003g0023a0001c0001t0003g0025others(6): Show | 9 | 264 | 0.0341 | -5 | c.127 others(24): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 12/12 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73400896 | GTTGTT | G | intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0224 | 2 | 264 | 0.0076 | -5 | c.-1- others(16): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47488712 | AATTTT | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0019a0001c0001t0001g0141a0001c0009t0001g0050others(3): Show | 6 | 412 | 0.0146 | -5 | c.-47 others(16): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 4598 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36511153 | TTTTTG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(9): Show | a0001c0001t0001g0076a0001c0001t0001g0146a0001c0001t0002g0031others(46): Show | 49 | 306 | 0.1601 | -5 | c.*20 others(16): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1787 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36563147 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01071.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0069a0001c0001t0001g0154others(5): Show | 8 | 306 | 0.0261 | -5 | c.102 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36608902 | CGGCGG | C | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG01106.hp2 others(66): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(66): Show | 69 | 306 | 0.2255 | -5 | c.846 others(22): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36623108 | AGTCTT | A | intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01081.hp1 others(20): Show |
a0001a0002a0009 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0072a0001c0001t0001g0076a0001c0001t0001g0121others(20): Show | 23 | 306 | 0.0752 | -5 | c.582 others(18): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36665201 | TATTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(128): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0009others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0019others(128): Show | 131 | 306 | 0.4281 | -5 | c.291 others(22): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 3/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36698821 | ATTCTC | A | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp2 HG02896.hp2 others(6): Show |
a0001a0010 | a0001c0003a0001c0012a0001c0018others(1): Show | a0001c0003t0001a0001c0003t0008a0001c0012t0001others(2): Show | a0001c0003t0001g0251a0001c0003t0001g0253a0001c0003t0001g0254others(6): Show | 9 | 306 | 0.0294 | -5 | c.128 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36699632 | TATTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(190): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(190): Show | 193 | 306 | 0.6307 | -5 | c.128 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36702168 | GAAGTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(90): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0023others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(90): Show | 93 | 306 | 0.3039 | -5 | c.128 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36707831 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp2 others(32): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0066others(32): Show | 35 | 306 | 0.1144 | -5 | c.127 others(24): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94738476 | GATAAT | G | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123 | 2 | 182 | 0.0110 | -5 | c.-13 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94793353 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG01258.hp1 others(18): Show |
a0001a0005a0009 | a0001c0001a0005c0005a0009c0010 | a0001c0001t0001a0001c0001t0002a0005c0005t0001others(1): Show | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0001g0140others(18): Show | 21 | 182 | 0.1154 | -5 | c.111 others(22): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94855069 | ATATTT | A | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02922.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0001c0001t0003a0007c0006t0003 | a0001c0001t0001g0120a0001c0001t0003g0108a0007c0006t0003g0104others(3): Show | 6 | 182 | 0.0330 | -5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94866599 | GTTTAC | G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02630.hp2 others(4): Show |
a0001a0007 | a0001c0001a0001c0016a0007c0006 | a0001c0001t0001a0001c0001t0003a0001c0016t0001others(1): Show | a0001c0001t0001g0120a0001c0001t0003g0108a0001c0016t0001g0110others(4): Show | 7 | 182 | 0.0385 | -5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94875347 | GAAAAA | G | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02572.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0008t0001others(3): Show | a0001c0001t0001g0008a0002c0002t0002g0138a0002c0008t0001g0128others(6): Show | 9 | 182 | 0.0495 | -5 | c.136 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95011211 | ATTTTT | A | intron_variant | MODIFIER | HG02071.hp1 HG02257.hp1 HG02615.hp2 others(4): Show |
a0001a0010 | a0001c0001a0001c0015a0010c0009 | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(1): Show | a0001c0001t0001g0111a0001c0001t0002g0010a0001c0001t0002g0050others(4): Show | 7 | 182 | 0.0385 | -5 | c.211 others(24): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200654206 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG00741.hp2 HG01070.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0056a0001c0001t0001g0057others(20): Show | 23 | 370 | 0.0622 | -5 | c.307 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1AR_chr4_112226787_112278110 | 112257738 | ATTTGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(292): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(151): Show | 295 | 398 | 0.7412 | -5 | c.160 others(18): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AP1AR_chr4_112226787_112278110 | 112258110 | TCTTTC | T | intron_variant | MODIFIER | NA18612.hp2 NA18953.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 3 | 398 | 0.0075 | -5 | c.185 others(20): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29324748 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG02056.hp2 HG02071.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0009 | a0001c0003t0002g0035a0001c0003t0002g0096a0001c0003t0002g0098others(4): Show | 7 | 378 | 0.0185 | -5 | c.*40 others(16): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2931 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(64): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0014others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0014t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(61): Show | 67 | 378 | 0.1773 | -5 | c.-39 others(16): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736118 | ATATAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(15): Show | a0001c0001t0005g0043a0001c0001t0005g0093a0001c0001t0005g0122others(68): Show | 71 | 320 | 0.2219 | -5 | c.226 others(24): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71783077 | CTTTAT | C | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0301a0001c0001t0002g0305a0001c0001t0002g0309 | 3 | 320 | 0.0094 | -5 | c.201 others(22): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71787318 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(213): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0044a0001c0001t0002g0133a0001c0001t0002g0194others(212): Show | 216 | 320 | 0.6750 | -5 | c.201 others(22): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01255.hp1 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0012a0001c0002t0017others(9): Show | a0001c0002t0005g0094a0001c0002t0005g0119a0001c0002t0005g0129others(20): Show | 23 | 308 | 0.0747 | -5 | c.*48 others(16): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4840 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(127): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0018a0001c0002t0001g0095a0001c0002t0001g0096others(98): Show | 130 | 394 | 0.3300 | -5 | c.889 others(18): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10577734 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(169): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0018a0001c0002t0001g0083a0001c0002t0001g0084others(138): Show | 172 | 394 | 0.4366 | -5 | c.889 others(20): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834474 | ATATAT | A | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01258.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0034a0001c0001t0001g0061a0001c0001t0001g0160others(13): Show | 36 | 318 | 0.1132 | -5 | c.427 others(22): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15851115 | TAAAAC | T | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 318 | 0.0031 | -5 | c.179 others(22): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 2/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223759296 | AGAGAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01993.hp2 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(7): Show | a0001c0001t0002g0006a0001c0001t0002g0007a0001c0001t0002g0008others(36): Show | 39 | 340 | 0.1147 | -5 | c.430 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223781054 | CTGTGT | C | intron_variant | MODIFIER | HG00544.hp2 HG01433.hp1 HG01978.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(4): Show | a0001c0001t0003g0010a0001c0001t0003g0011a0001c0001t0003g0012others(33): Show | 36 | 340 | 0.1059 | -5 | c.4-3 others(18): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223806277 | ATTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02257.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0002g0004a0001c0001t0004g0113a0001c0001t0008g0187others(8): Show | 11 | 340 | 0.0324 | -5 | c.4-2 others(20): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49804233 | AAAAAG | A | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01099.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0008t0001 | a0001c0001t0001g0005a0001c0001t0001g0017a0001c0001t0001g0179others(17): Show | 23 | 342 | 0.0673 | -5 | c.234 others(22): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 969219 | CCTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(97): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(97): Show | 100 | 268 | 0.3731 | -5 | c.137 others(20): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0020others(2): Show | a0001c0001t0005g0131a0001c0001t0005g0132a0001c0001t0005g0133others(12): Show | 15 | 372 | 0.0403 | -5 | c.-43 others(16): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35592125 | TTTTTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(63): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0002g0001a0001c0001t0002g0053a0001c0001t0002g0063others(62): Show | 66 | 372 | 0.1774 | -5 | c.-23 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35635377 | CTTTGT | C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0016a0001c0002t0001 | a0001c0001t0004g0318a0001c0001t0004g0321a0001c0001t0004g0322others(29): Show | 32 | 372 | 0.0860 | -5 | c.115 others(22): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35703302 | CACTCG | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01106.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0002 | a0001c0001t0007g0004a0001c0001t0007g0005a0001c0001t0007g0158others(13): Show | 16 | 372 | 0.0430 | -5 | c.245 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG01517.hp2 HG02258.hp2 HG02486.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0035others(9): Show | 24 | 422 | 0.0569 | -5 | c.-41 others(14): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184179653 | ATTTCT | A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG03195.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0016 | 6 | 422 | 0.0142 | -5 | c.341 others(20): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AP2M1_chr3_184169855_184189091 | 184187217 | AGTTTT | A | downstream_gene_variant | MODIFIER | HG00639.hp2 NA18955.hp2 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002 | 6 | 422 | 0.0142 | -5 | c.*36 others(16): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 3127 | chr3 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833427 | AAAGAG | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(143): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(98): Show | 146 | 424 | 0.3443 | -5 | c.*50 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4739 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833450 | GAGAAA | G | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01192.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0223a0001c0001t0001g0269 | 3 | 424 | 0.0071 | -5 | c.*49 others(16): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4716 | chr19 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46845438 | TAATTC | T | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01433.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0038a0001c0001t0001g0039others(35): Show | 44 | 424 | 0.1038 | -5 | c.153 others(20): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 2/4 | chr19 | TogoVar |