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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8856898 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02055.hp2 others(11): Show |
a0003a0005a0013others(4): Show | a0003c0022a0003c0034a0005c0008others(6): Show | a0003c0022t0001a0003c0034t0002a0005c0008t0005others(6): Show | a0003c0022t0001g0220 a0003c0034t0002g0012 a0005c0008t0005g0124 others(11): Show |
14 | 60 | 0.2333 | -7 | c.284 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8873599 | TATACACA | T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02055.hp1 others(13): Show |
a0003a0010a0015others(3): Show | a0003c0009a0003c0022a0003c0053others(6): Show | a0003c0009t0004a0003c0022t0004a0003c0053t0002others(6): Show | a0003c0009t0004g0156 a0003c0009t0004g0214 a0003c0009t0004g0236 others(13): Show |
16 | 366 | 0.0437 | -7 | c.422 others(24): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 33/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33308750 | GTTTTTTT | G | intron_variant | MODIFIER | HG02280.hp1 HG03516.hp2 HG03579.hp2 others(3): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0058 others(1): Show |
6 | 205 | 0.0293 | -7 | c.336 others(24): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53304861 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01074.hp1 others(11): Show |
a0001 | a0001c0001a0001c0007a0001c0010 | a0001c0001t0001a0001c0007t0001a0001c0010t0001 | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0013 others(10): Show |
14 | 30 | 0.4667 | -7 | c.*26 others(18): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2598 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125110188 | TTTGTGTG | T | intron_variant | MODIFIER | HG03491.hp1 HG03540.hp2 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0097 a0001c0001t0001g0241 a0002c0002t0001g0119 |
3 | 357 | 0.0084 | -7 | c.915 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125125807 | ATGGCCAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp1 others(158): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0014 others(153): Show |
161 | 362 | 0.4448 | -7 | c.130 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AAGAB_chr15_67195667_67259661 | 67242429 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01175.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0008a0002c0002t0002 | a0001c0001t0002g0007 a0001c0001t0002g0048 a0001c0001t0002g0050 others(25): Show |
31 | 158 | 0.1962 | -7 | c.74- others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77830987 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp1 HG02257.hp2 HG02572.hp2 others(13): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0074 others(13): Show |
16 | 107 | 0.1495 | -7 | c.-19 others(24): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218267958 | GGTTTTTT | G | intron_variant | MODIFIER | HG02717.hp1 HG02809.hp1 HG03041.hp2 others(7): Show |
a0001a0003a0004 | a0001c0001a0003c0008a0004c0006 | a0001c0001t0001a0001c0001t0003a0003c0008t0001others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0003g0030 others(2): Show |
10 | 397 | 0.0252 | -7 | c.275 others(22): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
AAMP_chr2_218259129_218275137 | 218273263 | GTTTTGTT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01109.hp2 others(57): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(10): Show |
60 | 398 | 0.1508 | -7 | c.-31 others(18): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 3127 | chr2 | TogoVar | |||||||
AAR2_chr20_36231478_36261933 | 36258861 | AAAAAAAC | A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01261.hp2 HG01361.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0009 a0001c0002t0001g0036 a0001c0002t0001g0156 others(7): Show |
14 | 296 | 0.0473 | -7 | c.*31 others(18): Show |
AAR2 | ENSG00000131043.13 | transcript | ENST00000320849.9 | protein_coding | 1929 | chr20 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42957476 | CTTTTTTT | C | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0070 a0001c0001t0001g0071 |
6 | 72 | 0.0833 | -7 | c.332 others(22): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967167 | TTATATAA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(156): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0001c0010others(3): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(70): Show |
159 | 314 | 0.5064 | -7 | c.-27 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2714 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967202 | TTATATAA | T | upstream_gene_variant | MODIFIER | HG02615.hp1 NA18522.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0072 |
3 | 311 | 0.0096 | -7 | c.-27 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2749 | chr17 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122078532 | AACCTGGG | A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00639.hp2 others(49): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0023 others(39): Show |
52 | 382 | 0.1361 | -7 | c.248 others(24): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 22/23 | chr7 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122141658 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01192.hp2 others(32): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0171 others(21): Show |
35 | 109 | 0.3211 | -7 | c.-16 others(24): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 1/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 36968234 | TTTTTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0024 a0001c0001t0001g0025 others(76): Show |
80 | 244 | 0.3279 | -7 | c.832 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81140759 | AGCCGTGG | A | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp2 HG02895.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0064others(3): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(3): Show | a0001c0001t0001g0316 a0001c0011t0001g0263 a0001c0011t0001g0265 others(15): Show |
18 | 351 | 0.0513 | -7 | c.56- others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141937 | TTCCTTCC | T | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG03471.hp2 others(1): Show |
a0015a0028a0029 | a0015c0028a0028c0068a0029c0067 | a0015c0028t0001a0028c0068t0004a0029c0067t0004 | a0015c0028t0001g0342 a0015c0028t0001g0343 a0028c0068t0004g0227 others(1): Show |
4 | 366 | 0.0109 | -7 | c.56- others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8724739 | AAAAAAAC | A | intron_variant | MODIFIER | HG01106.hp2 HG02074.hp2 HG02155.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(7): Show | a0001c0001t0001g0240 a0001c0001t0001g0275 a0001c0001t0002g0136 others(10): Show |
13 | 360 | 0.0361 | -7 | c.-41 others(26): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | CTTTTTTT | C | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0006others(6): Show | a0001c0001t0001g0333 a0001c0001t0002g0291 a0002c0002t0006g0161 others(7): Show |
10 | 52 | 0.1923 | -7 | c.199 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754663 | TTTATTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG03540.hp1 |
a0002 | a0002c0002a0002c0006 | a0002c0002t0002a0002c0002t0032a0002c0006t0002 | a0002c0002t0002g0020 a0002c0002t0032g0149 a0002c0006t0002g0343 |
3 | 360 | 0.0083 | -7 | c.317 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215103263 | CTTTCTTT | C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02896.hp1 others(4): Show |
a0002a0004a0009 | a0002c0007a0002c0057a0004c0018others(2): Show | a0002c0007t0006a0002c0057t0006a0004c0018t0021others(2): Show | a0002c0007t0006g0175 a0002c0007t0006g0176 a0002c0057t0006g0177 others(4): Show |
7 | 162 | 0.0432 | -7 | c.163 others(24): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48243029 | CTGAGGTG | C | intron_variant | MODIFIER | HG02258.hp2 HG03453.hp2 |
a0045a0068 | a0045c0041a0068c0040 | a0045c0041t0004a0068c0040t0001 | a0045c0041t0004g0039 a0068c0040t0001g0009 |
2 | 176 | 0.0114 | -7 | c.126 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 10/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48419543 | CGTAACAT | C | intron_variant | MODIFIER | HG01123.hp2 HG02523.hp2 HG03654.hp1 others(11): Show |
a0001a0005a0008others(6): Show | a0001c0001a0001c0010a0001c0103others(9): Show | a0001c0001t0001a0001c0010t0001a0001c0103t0006others(9): Show | a0001c0001t0001g0082 a0001c0010t0001g0067 a0001c0103t0006g0059 others(11): Show |
14 | 86 | 0.1628 | -7 | c.124 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48573328 | ATTTGTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(44): Show |
a0001a0005a0006others(23): Show | a0001c0001a0005c0007a0005c0023others(29): Show | a0001c0001t0002a0005c0007t0002a0005c0007t0003others(31): Show | a0001c0001t0002g0066 a0005c0007t0002g0129 a0005c0007t0003g0121 others(44): Show |
47 | 176 | 0.2670 | -7 | c.143 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104882028 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(72): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0035others(39): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(64): Show | a0001c0001t0004g0250 a0001c0001t0006g0055 a0001c0001t0006g0280 others(72): Show |
75 | 95 | 0.7895 | -7 | c.421 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA3_chr16_2270881_2345728 | 2315839 | CTTTTTTT | C | intron_variant | MODIFIER | HG01515.hp2 HG02300.hp2 HG02615.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0013a0006c0012t0001 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0143 others(2): Show |
5 | 171 | 0.0292 | -7 | c.111 others(26): Show |
ABCA3 | ENSG00000167972.14 | transcript | ENST00000301732.10 | protein_coding | 10/32 | chr16 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94124142 | TTTTTTTG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00639.hp1 others(32): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0007a0001c0009others(17): Show | a0001c0001t0001a0001c0007t0001a0001c0009t0001others(17): Show | a0001c0001t0001g0144 a0001c0001t0001g0235 a0001c0001t0001g0238 others(30): Show |
35 | 304 | 0.1151 | -7 | c.-31 others(18): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 2995 | chr1 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68904293 | ATAATAAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0033 a0001c0004t0001g0194 a0001c0004t0001g0209 |
3 | 269 | 0.0112 | -7 | c.239 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 19/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68934700 | GAGTTATA | G | intron_variant | MODIFIER | HG01496.hp1 NA18953.hp1 NA18994.hp2 others(2): Show |
a0001a0006 | a0001c0003a0006c0038 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0102 a0001c0003t0002g0101 a0001c0003t0003g0098 others(2): Show |
5 | 272 | 0.0184 | -7 | c.467 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 5/39 | chr17 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 168972328 | CAGTAAAG | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp1 others(182): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(33): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(59): Show | a0001c0001t0001g0032 a0001c0001t0001g0060 a0001c0001t0001g0061 others(180): Show |
185 | 304 | 0.6086 | -7 | c.143 others(24): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 13/27 | chr2 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169012748 | AAAAAAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG02486.hp1 others(7): Show |
a0002a0003a0004others(1): Show | a0002c0055a0003c0050a0004c0009others(3): Show | a0002c0055t0018a0003c0050t0009a0004c0009t0004others(6): Show | a0002c0055t0018g0103 a0003c0050t0009g0104 a0004c0009t0004g0105 others(7): Show |
10 | 304 | 0.0329 | -7 | c.389 others(22): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 5/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87602292 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01071.hp1 HG01167.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0010 | a0001c0001t0003a0001c0001t0010a0001c0001t0015others(3): Show | a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0027 others(8): Show |
12 | 215 | 0.0558 | -7 | c.-15 others(18): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 1409 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20656906 | CTTTTTCT | C | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01071.hp2 others(25): Show |
a0002a0007a0012others(8): Show | a0002c0003a0002c0012a0002c0035others(15): Show | a0002c0003t0003a0002c0012t0001a0002c0035t0005others(17): Show | a0002c0003t0003g0018 a0002c0012t0001g0082 a0002c0012t0001g0090 others(25): Show |
28 | 272 | 0.1029 | -7 | c.153 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20716676 | AGGAATGG | A | intron_variant | MODIFIER | NA19012.hp2 NA19067.hp2 NA19082.hp2 |
a0002 | a0002c0014 | a0002c0014t0001a0002c0014t0003 | a0002c0014t0001g0196 a0002c0014t0001g0197 a0002c0014t0003g0003 |
3 | 358 | 0.0084 | -7 | c.242 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB7_chrX_75046048_75161283 | 75155692 | GAATTGCT | G | intron_variant | MODIFIER | HG02055.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0229 a0001c0001t0012g0230 |
2 | 230 | 0.0087 | -7 | c.168 others(22): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1/15 | chrX | TogoVar | |||||||
ABCC11_chr16_48160773_48252539 | 48207858 | CCCCACTG | C | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01243.hp1 others(6): Show |
a0001a0014 | a0001c0001a0001c0003a0014c0038 | a0001c0001t0001a0001c0003t0001a0014c0038t0016 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0072 others(6): Show |
9 | 156 | 0.0577 | -7 | c.168 others(24): Show |
ABCC11 | ENSG00000121270.16 | transcript | ENST00000356608.7 | protein_coding | 12/29 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16026432 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(51): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0061 a0001c0001t0004g0170 a0001c0001t0004g0240 others(51): Show |
54 | 131 | 0.4122 | -7 | c.616 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 5/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16047710 | ACCCTCAG | A | intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 NA18522.hp2 |
a0001a0004 | a0001c0001a0004c0024 | a0001c0001t0005a0004c0024t0021 | a0001c0001t0005g0024 a0001c0001t0005g0025 a0004c0024t0021g0003 |
3 | 248 | 0.0121 | -7 | c.121 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 9/30 | chr16 | TogoVar | |||||||
ABCC1_chr16_15944616_16148053 | 16137545 | CTTTTTTT | C | intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0001a0003a0008 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0017a0001c0002t0006others(4): Show | a0001c0001t0006g0166 a0001c0001t0006g0171 a0001c0001t0017g0023 others(5): Show |
8 | 79 | 0.1013 | -7 | c.429 others(24): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 29/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCC2_chr10_99777640_99857594 | 99783984 | GCCCACCC | G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01109.hp2 others(1): Show |
a0001a0016 | a0001c0002a0016c0026 | a0001c0002t0003a0001c0002t0006a0016c0026t0006 | a0001c0002t0003g0020 a0001c0002t0006g0018 a0001c0002t0006g0019 others(1): Show |
4 | 334 | 0.0120 | -7 | c.34- others(20): Show |
ABCC2 | ENSG00000023839.12 | transcript | ENST00000647814.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50653357 | AAAAAAAG | A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 NA18947.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0140 a0001c0001t0001g0141 others(3): Show |
6 | 340 | 0.0176 | -7 | c.46- others(22): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABCC3_chr17_50629881_50697253 | 50673980 | CTCTCTCT | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 NA18952.hp2 |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0002a0001c0003t0001a0003c0005t0002 | a0001c0001t0002g0282 a0001c0003t0001g0235 a0003c0005t0002g0303 |
3 | 250 | 0.0120 | -7 | c.259 others(24): Show |
ABCC3 | ENSG00000108846.16 | transcript | ENST00000285238.13 | protein_coding | 19/30 | chr17 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95032670 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(133): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(86): Show | a0001c0001t0001g0157 a0001c0001t0001g0185 a0001c0001t0001g0191 others(133): Show |
136 | 225 | 0.6044 | -7 | c.387 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95164051 | AAAAAAAG | A | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0003a0001c0007a0001c0010others(2): Show | a0001c0003t0001a0001c0007t0019a0001c0010t0024others(2): Show | a0001c0003t0001g0034 a0001c0007t0019g0026 a0001c0010t0024g0023 others(2): Show |
5 | 246 | 0.0203 | -7 | c.217 others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 16/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95193146 | AGAGTCTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(20): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0014a0001c0017others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0008others(9): Show | a0001c0001t0001g0064 a0001c0001t0001g0192 a0001c0001t0001g0215 others(20): Show |
23 | 246 | 0.0935 | -7 | c.126 others(26): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 9/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95268522 | TCCCTTGG | T | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01074.hp2 others(105): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(50): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(77): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0145 others(105): Show |
108 | 246 | 0.4390 | -7 | c.75- others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95278110 | CACAGGTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01243.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(26): Show | a0001c0001t0001g0174 a0001c0001t0001g0186 a0001c0001t0001g0240 others(28): Show |
31 | 246 | 0.1260 | -7 | c.74+ others(24): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 1/30 | chr13 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 183989157 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00735.hp1 others(71): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0013a0001c0023others(3): Show | a0001c0002t0001a0001c0002t0008a0001c0013t0003others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(66): Show |
74 | 152 | 0.4868 | -7 | c.287 others(20): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 3/29 | chr3 | TogoVar |