| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AMBN_chr4_70587256_70612288 | 70588722 | T | TATATAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02630.hp2 HG06807.hp1 |
a0001a0002a0020 | a0001c0002a0002c0005a0020c0031 | a0001c0002t0002a0002c0005t0004a0020c0031t0004 | a0001c0002t0002g0127a0002c0005t0004g0137a0020c0031t0004g0162 | 3 | 480 | 0.0063 | 6 | c.-36 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 3533 | chr4 | TogoVar | ||||||
| AMBN_chr4_70587256_70612288 | 70590506 | G | GCACACA | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01346.hp1 HG01884.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0068a0001c0001t0001g0073others(12): Show | 17 | 480 | 0.0354 | 6 | c.-18 others(17): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 1749 | chr4 | TogoVar | ||||||
| AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0027a0001c0001t0001g0081a0001c0001t0001g0139others(23): Show | 34 | 454 | 0.0749 | 6 | c.603 others(23): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
| AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTGTG | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01496.hp2 others(12): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0033a0001c0001t0001g0072a0001c0001t0001g0084others(12): Show | 15 | 160 | 0.0938 | 6 | c.297 others(25): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
| AMDHD1_chr12_95938331_95973720 | 95946059 | C | CTGTGTG | intron_variant | MODIFIER | HG00423.hp1 HG02155.hp2 NA18949.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0188a0001c0001t0001g0189others(3): Show | 8 | 404 | 0.0198 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTCTGTG | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02895.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027a0002c0003t0001g0120a0002c0003t0001g0143 | 4 | 404 | 0.0099 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTGTG | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02809.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0002c0003t0001 | a0001c0001t0001g0139a0001c0001t0001g0140a0001c0001t0001g0141others(8): Show | 13 | 404 | 0.0322 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AMDHD1_chr12_95938331_95973720 | 95946576 | G | GCTCCCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(12): Show |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0004 | a0002c0003t0001g0022a0002c0003t0001g0077a0002c0003t0001g0097others(10): Show | 15 | 404 | 0.0371 | 6 | c.137 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG01975.hp1 others(10): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0014 | a0001c0001t0001a0001c0002t0003a0008c0014t0003 | a0001c0001t0001g0226a0001c0002t0003g0018a0001c0002t0003g0261others(8): Show | 13 | 404 | 0.0322 | 6 | c.813 others(21): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01099.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(7): Show | 17 | 318 | 0.0535 | 6 | c.-27 others(17): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
| AMELY_chrY_6860918_6916752 | 6907379 | C | CAAAAAA | intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 131 | 0.0076 | 6 | c.-11 others(25): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
| AMER1_chrX_64180117_64210708 | 64189484 | A | ATGTGTG | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02922.hp1 others(4): Show |
a0002a0004 | a0002c0002a0002c0012a0004c0005 | a0002c0002t0010a0002c0002t0091a0002c0012t0026others(2): Show | a0002c0002t0010g0014a0002c0002t0010g0064a0002c0002t0091g0071others(3): Show | 7 | 243 | 0.0288 | 6 | c.*38 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 394 | chrX | TogoVar | |||||
| AMER1_chrX_64180117_64210708 | 64189514 | G | GTATATA | 3_prime_UTR_variant | MODIFIER | HG02976.hp1 NA18967.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0083a0001c0017t0082 | a0001c0001t0083g0097a0001c0017t0082g0047 | 2 | 243 | 0.0082 | 6 | c.*35 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
| AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTATA | 3_prime_UTR_variant | MODIFIER | HG03041.hp1 NA18995.hp1 |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0036a0008c0015t0036 | a0001c0001t0036g0119a0008c0015t0036g0143 | 2 | 243 | 0.0082 | 6 | c.*36 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
| AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTA | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0093 | a0002c0002t0093g0072 | 1 | 243 | 0.0041 | 6 | c.*36 others(15): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
| AMER1_chrX_64180117_64210708 | 64201448 | A | AACACAC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(33): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(21): Show | a0001c0001t0001g0078a0001c0001t0004g0079a0001c0001t0008g0077others(25): Show | 36 | 243 | 0.1482 | 6 | c.-99 others(23): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 1/1 | chrX | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0022a0001c0001t0029others(1): Show | a0001c0001t0006g0000a0001c0001t0022g0000a0001c0001t0029g0000others(1): Show | 5 | 416 | 0.0120 | 6 | c.-28 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0015g0000 | 6 | 416 | 0.0144 | 6 | c.-28 others(17): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
| AMFR_chr16_56356452_56430545 | 56425420 | T | TCGCTGC | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0014a0001c0001t0030a0001c0001t0038others(1): Show | a0001c0001t0014g0136a0001c0001t0014g0137a0001c0001t0030g0003others(3): Show | 6 | 356 | 0.0169 | 6 | c.-99 others(13): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1/14 | 94 | chr16 | TogoVar | |||||
| AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATATA | downstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0021others(1): Show | a0001c0001t0003g0003a0001c0001t0005g0005a0001c0001t0021g0023others(1): Show | 4 | 400 | 0.0100 | 6 | c.*39 others(17): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
| AMMECR1L_chr2_127856630_127890956 | 127880773 | T | TACACAC | intron_variant | MODIFIER | HG01261.hp2 HG01981.hp2 HG02622.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0033a0001c0001t0002g0035a0001c0001t0002g0049others(15): Show | 20 | 334 | 0.0599 | 6 | c.-39 others(23): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
| AMMECR1_chrX_110189186_110323085 | 110217502 | T | TACACAC | intron_variant | MODIFIER | HG01258.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0057 | 2 | 155 | 0.0129 | 6 | c.585 others(21): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
| AMMECR1_chrX_110189186_110323085 | 110226606 | C | CAAAACA | intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0126a0001c0001t0002g0127a0001c0001t0002g0129others(4): Show | 7 | 155 | 0.0452 | 6 | c.585 others(23): Show |
AMMECR1 | ENSG00000101935.13 | transcript | ENST00000262844.10 | protein_coding | 2/5 | chrX | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG01169.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0001g0084a0001c0001t0001g0217others(6): Show | 9 | 432 | 0.0208 | 6 | c.703 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31695487 | C | CTTTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00597.hp2 others(120): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(102): Show | 123 | 432 | 0.2847 | 6 | c.591 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG02572.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0328a0001c0001t0001g0336a0001c0001t0001g0337others(11): Show | 14 | 432 | 0.0324 | 6 | c.317 others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31710551 | T | TACACAC | intron_variant | MODIFIER | HG00609.hp1 HG01358.hp2 HG01361.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0001g0037others(13): Show | 16 | 432 | 0.0370 | 6 | c.39- others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31722130 | G | GACACAC | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0142others(3): Show | 6 | 432 | 0.0139 | 6 | c.38+ others(21): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
| AMN1_chr12_31666142_31734021 | 31730080 | T | TGGTTGG | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(314): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(287): Show | 317 | 432 | 0.7338 | 6 | c.-10 others(17): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1060 | chr12 | TogoVar | ||||||
| AMN_chr14_102917663_102935842 | 102930656 | C | CGCCGGG | disruptive_inframe_insertion | MODERATE | HG01070.hp1 HG01071.hp2 HG02886.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0016a0002c0002t0003g0002a0002c0002t0003g0081 | 4 | 452 | 0.0089 | 6 | c.134 others(15): Show |
p.Gly others(13): Show |
AMN | ENSG00000166126.11 | transcript | ENST00000299155.10 | protein_coding | 12/12 | 1375/1550 | 1349/1362 | 450/453 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| AMOTL1_chr11_94763356_94881748 | 94864250 | C | CAATAAT | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0039a0001c0001t0040 | a0001c0001t0039g0112a0001c0001t0040g0144 | 2 | 246 | 0.0081 | 6 | c.213 others(23): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| AMOTL1_chr11_94763356_94881748 | 94873776 | T | TACACAC | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01123.hp1 HG01123.hp2 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0007a0001c0001t0022a0001c0001t0026others(4): Show | a0001c0001t0007g0045a0001c0001t0007g0094a0001c0001t0007g0130others(17): Show | 20 | 246 | 0.0813 | 6 | c.*30 others(17): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3019 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| AMOTL1_chr11_94763356_94881748 | 94873781 | A | ACACACG | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0031 | a0001c0002t0018g0060a0001c0002t0018g0088a0001c0002t0018g0139others(1): Show | 4 | 246 | 0.0163 | 6 | c.*29 others(17): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 2992 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACACAC | intron_variant | MODIFIER | HG01891.hp1 HG02083.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0104others(5): Show | 9 | 336 | 0.0268 | 6 | c.-61 others(23): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
| AMOTL2_chr3_134350347_134379447 | 134374901 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG02723.hp1 HG03927.hp2 NA18522.hp1 |
a0001a0015 | a0001c0001a0015c0022 | a0001c0001t0002a0001c0001t0033a0015c0022t0037 | a0001c0001t0002g0108a0001c0001t0033g0107a0015c0022t0037g0109 | 3 | 336 | 0.0089 | 6 | c.-62 others(15): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 455 | chr3 | TogoVar | ||||||
| AMOT_chrX_112769877_112845831 | 112783691 | A | ATGTGTG | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01192.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0025a0001c0002t0002others(2): Show | a0001c0001t0008g0129a0001c0001t0008g0137a0001c0001t0025g0156others(13): Show | 16 | 270 | 0.0593 | 6 | c.211 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 10/13 | chrX | TogoVar | ||||||
| AMOT_chrX_112769877_112845831 | 112795247 | T | TGTGTGC | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0030a0001c0001t0004g0033a0001c0001t0004g0144others(3): Show | 6 | 270 | 0.0222 | 6 | c.177 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| AMOT_chrX_112769877_112845831 | 112795248 | C | CTGTGTG | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0139a0001c0001t0004g0177 | 2 | 270 | 0.0074 | 6 | c.177 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| AMOT_chrX_112769877_112845831 | 112797840 | A | AGAAGAG | intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 270 | 0.0037 | 6 | c.177 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
| AMOT_chrX_112769877_112845831 | 112825035 | G | GCACACA | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 HG03516.hp1 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0004a0001c0007t0004a0001c0007t0022 | a0001c0001t0004g0146a0001c0001t0004g0153a0001c0001t0004g0155others(2): Show | 5 | 270 | 0.0185 | 6 | c.-63 others(19): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3/13 | chrX | TogoVar | ||||||
| AMPD1_chr1_114668098_114700546 | 114668520 | A | AACACAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0027others(28): Show | 35 | 358 | 0.0978 | 6 | c.*45 others(17): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4577 | chr1 | TogoVar | ||||||
| AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01516.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0176a0001c0001t0001g0331others(12): Show | 15 | 390 | 0.0385 | 6 | c.-51 others(17): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38390961 | C | CAGAGAG | intron_variant | MODIFIER | HG00621.hp1 HG01346.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0071a0001c0001t0001g0101a0001c0001t0001g0239others(1): Show | 4 | 288 | 0.0139 | 6 | c.187 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38398985 | C | CAATTTA | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(23): Show |
a0002a0006 | a0002c0004a0002c0008a0006c0014 | a0002c0004t0003a0002c0004t0005a0002c0008t0002others(2): Show | a0002c0004t0003g0188a0002c0004t0005g0029a0002c0004t0005g0051others(23): Show | 26 | 288 | 0.0903 | 6 | c.139 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38406715 | T | TCTCTCC | intron_variant | MODIFIER | HG00099.hp2 HG02071.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0103a0001c0001t0003g0133a0001c0001t0003g0216 | 3 | 288 | 0.0104 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38406719 | T | TCCTCTC | intron_variant | MODIFIER | HG00558.hp1 NA18963.hp2 NA18971.hp2 |
a0002 | a0002c0004 | a0002c0004t0003a0002c0004t0005 | a0002c0004t0003g0188a0002c0004t0005g0070a0002c0004t0005g0184 | 3 | 288 | 0.0104 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTC | intron_variant | MODIFIER | HG01243.hp1 HG02683.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0225a0001c0001t0001g0237a0001c0003t0002g0014others(3): Show | 6 | 288 | 0.0208 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38406731 | C | CCTCTCT | intron_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG02897.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0004a0001c0005t0004a0003c0006t0004 | a0001c0001t0004g0092a0001c0001t0004g0141a0001c0005t0004g0022others(1): Show | 4 | 288 | 0.0139 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCTCT | intron_variant | MODIFIER | HG00558.hp1 HG01261.hp2 HG01346.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0101a0001c0001t0001g0109a0001c0001t0001g0156others(13): Show | 16 | 288 | 0.0556 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38407335 | A | ATCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00438.hp2 others(75): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0091a0001c0001t0001g0204a0001c0001t0001g0207others(75): Show | 78 | 288 | 0.2708 | 6 | c.139 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar |