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 | 70611484 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01515.hp2 others(14): Show |
a0001a0002a0006 | a0001c0002a0002c0005a0006c0009 | a0001c0002t0002a0001c0002t0005a0001c0002t0011others(2): Show | a0001c0002t0002g0010a0001c0002t0002g0110a0001c0002t0002g0151others(10): Show | 17 | 480 | 0.0354 | 8 | c.*47 others(19): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 4197 | chr4 | TogoVar | ||||||
AMBP_chr9_114055127_114083300 | 114066376 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0019others(41): Show | 72 | 454 | 0.1586 | 8 | c.603 others(25): Show |
AMBP | ENSG00000106927.12 | transcript | ENST00000265132.8 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01243.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0034others(17): Show | 20 | 160 | 0.1250 | 8 | c.297 others(27): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95944327 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00733.hp1 HG00741.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0003others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0024a0001c0001t0001g0025others(27): Show | 35 | 404 | 0.0866 | 8 | 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 | 95946059 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0038a0001c0001t0001g0137a0001c0001t0001g0190others(2): Show | 5 | 404 | 0.0124 | 8 | c.137 others(25): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95946061 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030a0001c0001t0001g0122a0001c0001t0001g0123others(2): Show | 6 | 404 | 0.0149 | 8 | c.137 others(25): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(159): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(114): Show | 162 | 404 | 0.4010 | 8 | c.813 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01975.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0014a0001c0001t0001g0130a0001c0001t0001g0166others(10): Show | 15 | 404 | 0.0371 | 8 | c.939 others(23): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2517713 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02523.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0015 | a0001c0001t0001g0003a0001c0001t0001g0039a0001c0001t0011g0035others(1): Show | 4 | 318 | 0.0126 | 8 | c.-27 others(19): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 2657 | chr16 | TogoVar | ||||||
AMELY_chrY_6860918_6916752 | 6907379 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 131 | 0.0076 | 8 | c.-11 others(27): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189484 | A | ATGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02615.hp2 others(3): Show |
a0001a0002a0005 | a0001c0003a0002c0002a0005c0006 | a0001c0003t0032a0001c0003t0072a0002c0002t0058others(2): Show | a0001c0003t0032g0031a0001c0003t0072g0154a0002c0002t0058g0070others(2): Show | 6 | 243 | 0.0247 | 8 | c.*38 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 394 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTATAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0099 | 1 | 243 | 0.0041 | 8 | c.*36 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTAT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0167 | 1 | 243 | 0.0041 | 8 | c.*36 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64189514 | G | GTGTGTGT others(1): Show |
3_prime_UTR_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0003 | a0001c0003t0073 | a0001c0003t0073g0049 | 1 | 243 | 0.0041 | 8 | c.*36 others(17): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 364 | chrX | TogoVar | |||||
AMER1_chrX_64180117_64210708 | 64201448 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0046a0002c0002t0003a0002c0002t0011others(3): Show | a0001c0001t0046g0059a0002c0002t0003g0057a0002c0002t0011g0037others(3): Show | 6 | 243 | 0.0247 | 8 | c.-99 others(25): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 1/1 | chrX | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTTCCTTC others(1): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01257.hp2 others(22): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(11): Show | 25 | 416 | 0.0601 | 8 | c.-31 others(19): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174825 | C | CCTTCCTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00735.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0034others(1): Show | a0001c0001t0004g0000a0001c0001t0007g0000a0001c0001t0034g0000others(1): Show | 8 | 416 | 0.0192 | 8 | c.-32 others(19): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00609.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0234a0001c0001t0001g0235a0001c0001t0001g0236others(52): Show | 55 | 356 | 0.1545 | 8 | c.*34 others(19): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109503476 | T | TTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00741.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0003a0001c0001t0005g0005 | 13 | 400 | 0.0325 | 8 | c.*39 others(19): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 701 | chr1 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127880773 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03239.hp2 NA20752.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0031a0002c0002t0002g0113 | 3 | 334 | 0.0090 | 8 | c.-39 others(25): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
AMMECR1L_chr2_127856630_127890956 | 127885412 | G | GGGGGCGG others(1): Show |
intron_variant | MODIFIER | HG03579.hp2 HG04184.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0190a0001c0001t0002g0191a0001c0001t0002g0192others(2): Show | 5 | 334 | 0.0150 | 8 | c.-14 others(25): Show |
AMMECR1L | ENSG00000144233.12 | transcript | ENST00000272647.10 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0033others(56): Show | 60 | 432 | 0.1389 | 8 | c.703 others(25): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31696280 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(340): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(302): Show | 343 | 432 | 0.7940 | 8 | c.591 others(25): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 5/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02040.hp1 HG02155.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0332a0001c0001t0001g0333a0001c0001t0001g0338others(7): Show | 10 | 432 | 0.0232 | 8 | c.317 others(25): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31710551 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01943.hp1 HG03927.hp2 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0206a0001c0001t0001g0288others(2): Show | 5 | 432 | 0.0116 | 8 | c.39- others(23): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 1/6 | chr12 | TogoVar | ||||||
AMOTL1_chr11_94763356_94881748 | 94873776 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01256.hp1 HG01257.hp1 HG01346.hp2 others(37): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0020others(1): Show | a0001c0001t0002a0001c0001t0030a0001c0001t0040others(6): Show | a0001c0001t0002g0031a0001c0001t0002g0032a0001c0001t0030g0042others(36): Show | 40 | 246 | 0.1626 | 8 | c.*30 others(19): Show |
AMOTL1 | ENSG00000166025.18 | transcript | ENST00000433060.3 | protein_coding | 13/13 | 3019 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
AMOTL2_chr3_134350347_134379447 | 134372530 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01884.hp2 HG01978.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(2): Show | a0001c0001t0001g0096a0001c0001t0002g0116a0001c0001t0002g0117others(7): Show | 10 | 336 | 0.0298 | 8 | c.-61 others(25): Show |
AMOTL2 | ENSG00000114019.15 | transcript | ENST00000249883.10 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112771465 | C | CAAACTGA others(1): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0129 | 1 | 270 | 0.0037 | 8 | c.*71 others(19): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 3411 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112783691 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03540.hp2 NA18956.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0002 | a0001c0001t0016g0161a0001c0001t0016g0258a0001c0002t0002g0075 | 3 | 270 | 0.0111 | 8 | c.211 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 10/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112795248 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01192.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0011 | a0002c0003t0007g0008a0002c0003t0007g0013a0002c0003t0007g0076others(4): Show | 7 | 270 | 0.0259 | 8 | c.177 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112797898 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01192.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0007a0002c0003t0011 | a0002c0003t0007g0008a0002c0003t0007g0013a0002c0003t0007g0076others(4): Show | 7 | 270 | 0.0259 | 8 | c.177 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 8/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112806376 | T | TATACTTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0112a0001c0001t0002g0240a0001c0001t0004g0026others(45): Show | 50 | 270 | 0.1852 | 8 | c.163 others(27): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 7/13 | chrX | TogoVar | ||||||
AMOT_chrX_112769877_112845831 | 112831445 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG02886.hp1 NA18940.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0002 | a0001c0001t0001g0094a0001c0001t0001g0242a0001c0001t0003g0246others(1): Show | 4 | 270 | 0.0148 | 8 | c.-21 others(25): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 2/13 | chrX | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114668520 | A | AACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01346.hp1 others(16): Show |
a0001a0008 | a0001c0001a0001c0006a0001c0014others(1): Show | a0001c0001t0001a0001c0006t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0028others(13): Show | 19 | 358 | 0.0531 | 8 | c.*45 others(19): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 4577 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114677795 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02004.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027a0001c0001t0001g0074a0001c0001t0001g0100 | 4 | 358 | 0.0112 | 8 | c.122 others(25): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114677799 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp2 HG01358.hp2 others(10): Show |
a0001a0008 | a0001c0001a0001c0009a0008c0011 | a0001c0001t0001a0001c0009t0001a0008c0011t0001 | a0001c0001t0001g0029a0001c0001t0001g0036a0001c0001t0001g0060others(8): Show | 13 | 358 | 0.0363 | 8 | c.122 others(25): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 9/15 | chr1 | TogoVar | ||||||
AMPD1_chr1_114668098_114700546 | 114693164 | A | ATAAGTAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0062a0001c0001t0001g0063 | 5 | 358 | 0.0140 | 8 | c.34+ others(21): Show |
AMPD1 | ENSG00000116748.22 | transcript | ENST00000520113.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
AMPD3_chr11_10450264_10512579 | 10450339 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00735.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(8): Show | a0001c0001t0001g0036a0001c0001t0001g0043a0001c0001t0001g0049others(40): Show | 46 | 390 | 0.1180 | 8 | c.-51 others(19): Show |
AMPD3 | ENSG00000133805.16 | transcript | ENST00000396553.7 | protein_coding | 4924 | chr11 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38390961 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01256.hp1 HG01258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0218others(1): Show | 4 | 288 | 0.0139 | 8 | c.187 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 19/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38392377 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG02071.hp1 others(8): Show |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0005a0002c0004t0001a0002c0004t0005 | a0001c0007t0005g0222a0002c0004t0001g0167a0002c0004t0005g0051others(8): Show | 11 | 288 | 0.0382 | 8 | c.160 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38406728 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0254a0001c0001t0001g0259a0001c0003t0002g0001others(5): Show | 8 | 288 | 0.0278 | 8 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407021 | C | CCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01361.hp1 HG02080.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0082a0001c0001t0001g0217others(18): Show | 21 | 288 | 0.0729 | 8 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38407335 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0092a0001c0001t0004g0141a0001c0001t0004g0256 | 3 | 288 | 0.0104 | 8 | c.139 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 17/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38422554 | G | GTATCTAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00597.hp1 HG00741.hp2 others(18): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0007t0005others(1): Show | a0001c0001t0001g0059a0001c0001t0001g0091a0001c0001t0001g0097others(18): Show | 21 | 288 | 0.0729 | 8 | c.121 others(23): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 15/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38432587 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01099.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0058a0001c0001t0003g0016a0001c0001t0003g0185others(5): Show | 8 | 288 | 0.0278 | 8 | c.113 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01358.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0258a0001c0001t0003g0030a0001c0001t0003g0189others(14): Show | 17 | 288 | 0.0590 | 8 | c.113 others(27): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38446472 | A | ATGAAGTA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG02056.hp1 others(51): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0023a0001c0001t0001g0049a0001c0001t0001g0067others(51): Show | 54 | 288 | 0.1875 | 8 | c.101 others(29): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38467640 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00733.hp2 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0055a0001c0001t0001g0056others(61): Show | 64 | 288 | 0.2222 | 8 | c.591 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38525445 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01884.hp1 HG02970.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0005a0003c0006 | a0001c0002t0002a0001c0005t0004a0003c0006t0004 | a0001c0002t0002g0035a0001c0005t0004g0022a0003c0006t0004g0004others(1): Show | 4 | 288 | 0.0139 | 8 | c.150 others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 2/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38563134 | G | GATGAATG others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01192.hp2 HG01515.hp2 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0026a0001c0001t0001g0071a0001c0001t0001g0098others(34): Show | 37 | 288 | 0.1285 | 8 | c.70- others(25): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar |