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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA1_chr9_73146865_73175393 | 73156159 | A | AAATAAAT | intron_variant | MODIFIER | HG01243.hp1 HG02257.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 a0001c0001t0001g0142 a0001c0001t0001g0153 others(1): Show |
5 | 426 | 0.0117 | 7 | c.-14 others(24): Show |
ANXA1 | ENSG00000135046.14 | transcript | ENST00000257497.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60363029 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp1 HG01517.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0087 a0001c0001t0001g0106 others(17): Show |
20 | 43 | 0.4651 | 7 | c.243 others(24): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 4/12 | chr15 | TogoVar | |||||||
ANXA3_chr4_78546770_78615447 | 78549084 | T | TAAATAAA | upstream_gene_variant | MODIFIER | HG02486.hp1 HG03486.hp2 NA20300.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0004a0005c0005t0003 | a0001c0001t0002g0287 a0001c0001t0004g0078 a0001c0001t0004g0086 others(1): Show |
4 | 304 | 0.0132 | 7 | c.-28 others(18): Show |
ANXA3 | ENSG00000138772.13 | transcript | ENST00000264908.11 | protein_coding | 2685 | chr4 | TogoVar | |||||||
ANXA4_chr2_69737134_69832112 | 69775961 | T | TTTATTTA | intron_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003 | a0001c0001t0006a0001c0001t0007a0001c0001t0021others(2): Show | a0001c0001t0006g0107 a0001c0001t0006g0112 a0001c0001t0006g0124 others(10): Show |
13 | 290 | 0.0448 | 7 | c.-46 others(24): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69793250 | C | CAAAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG02486.hp1 HG02965.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0003g0133 a0001c0001t0003g0230 a0001c0001t0005g0031 others(10): Show |
13 | 198 | 0.0657 | 7 | c.97+ others(22): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73412795 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(7): Show |
10 | 226 | 0.0442 | 7 | c.-2+ others(22): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
ANXA7_chr10_73370101_73419058 | 73416109 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG02280.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0223 others(5): Show |
8 | 52 | 0.1538 | 7 | c.-21 others(18): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 2052 | chr10 | TogoVar | |||||||
ANXA8L1_chr10_46370776_46396778 | 46394717 | A | AAAGAAAG | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01433.hp2 HG02723.hp2 others(2): Show |
a0001a0003 | a0001c0002a0001c0005a0003c0006 | a0001c0002t0002a0001c0005t0001a0003c0006t0012 | a0001c0002t0002g0042 a0001c0002t0002g0117 a0001c0005t0001g0004 others(1): Show |
5 | 240 | 0.0208 | 7 | c.*37 others(18): Show |
ANXA8L1 | ENSG00000264230.9 | transcript | ENST00000619162.5 | protein_coding | 2940 | chr10 | TogoVar | |||||||
ANXA8_chr10_47462993_47489115 | 47465077 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00597.hp2 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0015 others(52): Show |
113 | 159 | 0.7107 | 7 | c.*37 others(18): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 2915 | chr10 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36523629 | G | GTTTTTTT | intron_variant | MODIFIER | HG01978.hp2 HG02056.hp2 NA18972.hp2 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0159 a0001c0003t0001g0302 others(3): Show |
6 | 25 | 0.2400 | 7 | c.152 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 19/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36543947 | C | CTTTCTTT | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00738.hp1 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0056 a0001c0001t0001g0102 a0001c0001t0001g0103 others(26): Show |
29 | 46 | 0.6304 | 7 | c.113 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 15/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36707084 | A | ATGAGGCC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(206): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(206): Show |
209 | 304 | 0.6875 | 7 | c.127 others(26): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94898959 | T | TAAATAAA | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp2 HG02572.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0008t0001others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0115 a0001c0001t0001g0118 others(13): Show |
16 | 180 | 0.0889 | 7 | c.136 others(28): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94962730 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG02027.hp1 HG02109.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0016a0002c0002others(1): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0096 others(7): Show |
10 | 141 | 0.0709 | 7 | c.187 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94986965 | G | GCTTAGAA | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02572.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0002g0025 others(13): Show |
16 | 180 | 0.0889 | 7 | c.197 others(26): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95020918 | C | CAAAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02897.hp1 HG02970.hp1 others(2): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0009c0009 | a0001c0001t0002a0002c0002t0002a0009c0009t0001 | a0001c0001t0002g0044 a0001c0001t0002g0165 a0001c0001t0002g0166 others(2): Show |
5 | 53 | 0.0943 | 7 | c.211 others(28): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200588726 | C | CTTTTTTT | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02723.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0006 | a0001c0001t0002a0003c0003t0001a0003c0003t0004others(1): Show | a0001c0001t0002g0092 a0003c0003t0001g0091 a0003c0003t0001g0096 others(3): Show |
6 | 87 | 0.0690 | 7 | c.45+ others(22): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 1/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200657161 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG01981.hp1 others(8): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0002others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0271 a0001c0001t0002g0169 others(8): Show |
11 | 274 | 0.0401 | 7 | c.317 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 27/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200663596 | T | TCTCTCCC | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01261.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0271 a0001c0001t0002g0270 a0001c0001t0002g0276 others(3): Show |
6 | 229 | 0.0262 | 7 | c.354 others(24): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG01168.hp2 HG02071.hp2 others(30): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0002c0002t0005a0002c0002t0006others(4): Show | a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0111 others(30): Show |
33 | 89 | 0.3708 | 7 | c.-3- others(22): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0127a0001c0002t0001a0001c0002t0010others(2): Show | a0001c0001t0127g0221 a0001c0002t0001g0097 a0001c0002t0001g0138 others(5): Show |
8 | 253 | 0.0316 | 7 | c.546 others(24): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16244882 | T | TTTTTTTG | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01978.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0035a0001c0001t0036others(2): Show | a0001c0001t0027g0028 a0001c0001t0027g0029 a0001c0001t0035g0255 others(5): Show |
8 | 56 | 0.1429 | 7 | c.*10 others(20): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10450 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M2_chr19_10567671_10592312 | 10585261 | A | AAAGAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 others(23): Show |
30 | 391 | 0.0767 | 7 | c.43- others(22): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S1_chr7_101149476_101166276 | 101151166 | A | AAATAAAT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01070.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003 a0001c0001t0003g0069 a0001c0001t0003g0076 others(3): Show |
37 | 417 | 0.0887 | 7 | c.-33 others(18): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 3309 | chr7 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834479 | T | TATATATA | intron_variant | MODIFIER | HG01192.hp1 HG02074.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0028 |
3 | 256 | 0.0117 | 7 | c.427 others(24): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223769613 | A | AAGCGTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(254): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0014 others(253): Show |
257 | 338 | 0.7604 | 7 | c.292 others(24): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01978.hp2 HG01981.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0043 a0001c0001t0003g0011 a0001c0001t0003g0020 others(17): Show |
20 | 152 | 0.1316 | 7 | c.3+2 others(22): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35604566 | T | TGGCTAAC | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0005 a0001c0002t0001g0062 a0001c0002t0001g0184 others(136): Show |
140 | 370 | 0.3784 | 7 | c.144 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35610142 | A | ATTTATTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(339): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(336): Show |
342 | 370 | 0.9243 | 7 | c.525 others(24): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT | intron_variant | MODIFIER | HG01192.hp1 HG02056.hp1 HG02071.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0002 | a0001c0001t0003g0008 a0001c0001t0003g0020 a0001c0001t0003g0032 others(6): Show |
9 | 202 | 0.0446 | 7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35720574 | T | TATATATA | intron_variant | MODIFIER | HG00558.hp1 HG01891.hp1 HG02602.hp2 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0002 | a0001c0001t0002g0120 a0001c0001t0002g0172 a0001c0001t0002g0181 others(7): Show |
10 | 355 | 0.0282 | 7 | c.278 others(26): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | chr17 | TogoVar | |||||||
AP2S1_chr19_46833167_46855846 | 46855092 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011 a0001c0001t0001g0054 a0001c0001t0001g0056 others(3): Show |
8 | 115 | 0.0696 | 7 | c.-43 others(18): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4247 | chr19 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(34): Show |
a0001a0003a0004others(1): Show | a0001c0002a0003c0008a0004c0017others(1): Show | a0001c0002t0001a0001c0002t0002a0003c0008t0002others(2): Show | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(34): Show |
37 | 152 | 0.2434 | 7 | c.165 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78169733 | G | GTTATTTA | intron_variant | MODIFIER | HG01168.hp1 HG01361.hp2 HG02055.hp2 others(16): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0002t0001g0180 others(16): Show |
19 | 133 | 0.1429 | 7 | c.116 others(26): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82683047 | G | GTTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 others(4): Show |
7 | 73 | 0.0959 | 7 | c.361 others(24): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113897142 | C | CAAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01496.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0011 | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0002g0057 others(4): Show |
12 | 90 | 0.1333 | 7 | c.130 others(24): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 7/9 | chr1 | TogoVar | |||||||
AP4B1_chr1_113889194_113909799 | 113907204 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG00741.hp2 others(22): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(1): Show | a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0018 others(8): Show |
25 | 141 | 0.1773 | 7 | c.-24 others(18): Show |
AP4B1 | ENSG00000134262.14 | transcript | ENST00000369569.6 | protein_coding | 2406 | chr1 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50977709 | T | TTTTTTTG | intron_variant | MODIFIER | HG01167.hp1 HG02071.hp2 HG02109.hp1 others(7): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0006 | a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0110 others(7): Show |
10 | 383 | 0.0261 | 7 | c.196 others(26): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50977710 | T | TTTTTTTG | intron_variant | MODIFIER | HG00621.hp2 HG01168.hp2 HG01943.hp2 others(5): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003a0002c0003t0020 | a0002c0002t0002g0089 a0002c0003t0003g0025 a0002c0003t0003g0026 others(5): Show |
8 | 291 | 0.0275 | 7 | c.196 others(26): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31083496 | C | CTTTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG01361.hp1 HG01433.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015a0001c0001t0042 | a0001c0001t0003g0026 a0001c0001t0003g0130 a0001c0001t0003g0147 others(4): Show |
7 | 117 | 0.0598 | 7 | c.306 others(24): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP5S1_chr20_3815547_3833838 | 3824931 | C | CAAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0020others(5): Show | a0001c0001t0009g0003 a0001c0001t0009g0014 a0001c0001t0009g0029 others(7): Show |
19 | 224 | 0.0848 | 7 | c.*64 others(16): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3/3 | 651 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
AP5S1_chr20_3815547_3833838 | 3832236 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01981.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0015a0001c0001t0026 | a0001c0001t0009g0003 a0001c0001t0009g0029 a0001c0001t0015g0003 others(2): Show |
12 | 208 | 0.0577 | 7 | c.*79 others(18): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 3399 | chr20 | TogoVar | |||||||
APAF1_chr12_98640290_98740433 | 98653691 | A | ATATATAT | intron_variant | MODIFIER | HG03669.hp1 HG04115.hp1 NA19054.hp2 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0262 a0001c0001t0001g0263 a0004c0006t0001g0253 |
3 | 121 | 0.0248 | 7 | c.526 others(24): Show |
APAF1 | ENSG00000120868.14 | transcript | ENST00000551964.6 | protein_coding | 4/26 | chr12 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69483158 | A | AACGAAAC | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02257.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0033a0001c0001t0034others(6): Show | a0001c0001t0001g0186 a0001c0001t0033g0017 a0001c0001t0034g0207 others(12): Show |
15 | 208 | 0.0721 | 7 | c.120 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 2/12 | chr9 | TogoVar | |||||||
APBA1_chr9_69422532_69677371 | 69656885 | C | CCGGACTG | intron_variant | MODIFIER | HG03098.hp2 HG03516.hp1 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0017 | a0002c0002t0003g0084 a0002c0002t0017g0205 a0002c0002t0017g0206 |
3 | 208 | 0.0144 | 7 | c.-70 others(26): Show |
APBA1 | ENSG00000107282.9 | transcript | ENST00000265381.7 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
APBA2_chr15_28880974_29123315 | 28951821 | T | TCCATCCG | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02258.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0003a0001c0007t0004a0002c0002t0003others(7): Show | a0001c0001t0003g0173 a0001c0007t0004g0043 a0001c0007t0004g0044 others(9): Show |
12 | 202 | 0.0594 | 7 | c.-95 others(26): Show |
APBA2 | ENSG00000034053.15 | transcript | ENST00000683413.1 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
APBB1IP_chr10_26433341_26572803 | 26495381 | A | ACCTGTTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(244): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0014a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(243): Show |
247 | 356 | 0.6938 | 7 | c.73- others(20): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
APBB2_chr4_40805027_41219542 | 40854790 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(11): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0002a0001c0003t0001a0001c0003t0058others(8): Show | a0001c0002t0002g0122 a0001c0003t0001g0038 a0001c0003t0001g0052 others(11): Show |
14 | 56 | 0.2500 | 7 | c.153 others(28): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTCTT | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01099.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0004a0001c0002t0010others(2): Show | a0001c0002t0002g0175 a0001c0002t0004g0108 a0001c0002t0010g0006 others(2): Show |
5 | 98 | 0.0510 | 7 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40881528 | C | CTTTTTTT | intron_variant | MODIFIER | HG01261.hp2 HG01975.hp1 HG03130.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0001a0001c0002t0002a0001c0002t0017others(6): Show | a0001c0002t0001g0109 a0001c0002t0002g0084 a0001c0002t0002g0085 others(9): Show |
12 | 105 | 0.1143 | 7 | c.152 others(26): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 12/17 | chr4 | TogoVar |