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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALLC_chr2_3653200_3707671 | 3704590 | C | CGTGGGGG others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG03486.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0001a0003c0003t0002 | a0002c0002t0002g0220a0003c0003t0001g0228a0003c0003t0002g0018others(1): Show | 4 | 274 | 0.0146 | 9 | c.*20 others(20): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 1920 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73391294 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00738.hp1 others(82): Show |
a0001a0002a0004others(21): Show | a0001c0001a0002c0004a0002c0011others(35): Show | a0001c0001t0001a0002c0004t0001a0002c0011t0001others(35): Show | a0001c0001t0001g0192a0002c0004t0001g0005a0002c0004t0001g0034others(82): Show | 85 | 248 | 0.3427 | 9 | c.324 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(9): Show |
a0002a0004a0009others(4): Show | a0002c0004a0002c0041a0004c0043others(5): Show | a0002c0004t0001a0002c0041t0001a0004c0043t0002others(5): Show | a0002c0004t0001g0034a0002c0004t0001g0035a0002c0004t0001g0046others(9): Show | 12 | 248 | 0.0484 | 9 | c.325 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(14): Show |
a0002a0009a0014others(3): Show | a0002c0004a0002c0011a0009c0013others(5): Show | a0002c0004t0001a0002c0011t0001a0009c0013t0001others(5): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0034others(14): Show | 17 | 248 | 0.0686 | 9 | c.767 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73515805 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG02622.hp2 HG04204.hp2 NA19009.hp2 |
a0004a0010a0035 | a0004c0003a0010c0009a0035c0050 | a0004c0003t0002a0010c0009t0001a0035c0050t0001 | a0004c0003t0002g0076a0010c0009t0001g0187a0035c0050t0001g0246 | 3 | 248 | 0.0121 | 9 | c.954 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02615.hp2 HG02622.hp1 others(10): Show |
a0003a0011a0012others(3): Show | a0003c0002a0011c0022a0011c0024others(5): Show | a0003c0002t0001a0011c0022t0001a0011c0024t0001others(5): Show | a0003c0002t0001g0008a0003c0002t0001g0014a0003c0002t0001g0030others(10): Show | 13 | 248 | 0.0524 | 9 | c.115 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01106.hp2 HG01192.hp1 others(30): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0020a0003c0002others(7): Show | a0001c0001t0001a0002c0020t0001a0003c0002t0001others(7): Show | a0001c0001t0001g0178a0002c0020t0001g0208a0003c0002t0001g0008others(30): Show | 33 | 248 | 0.1331 | 9 | c.115 others(32): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01243.hp2 others(45): Show |
a0001a0004a0005others(2): Show | a0001c0008a0001c0029a0004c0006others(5): Show | a0001c0008t0001a0001c0029t0004a0004c0006t0003others(6): Show | a0001c0008t0001g0239a0001c0029t0004g0195a0004c0006t0003g0027others(37): Show | 48 | 470 | 0.1021 | 9 | c.*17 others(20): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112401592 | G | GAAATCAC others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03139.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132a0001c0001t0001g0158a0001c0001t0001g0296 | 3 | 306 | 0.0098 | 9 | c.277 others(28): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPL_chr1_21504423_21583410 | 21552114 | T | TCCCCTCC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(150): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0019others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0257a0001c0001t0003g0066a0001c0001t0003g0067others(150): Show | 153 | 370 | 0.4135 | 9 | c.-10 others(28): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | chr1 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385077 | G | GGAAGAAG others(2): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01975.hp2 HG02080.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0001a0002c0002t0001g0004a0002c0005t0001g0005others(2): Show | 11 | 410 | 0.0268 | 9 | c.*32 others(20): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2189 | chr2 | TogoVar | ||||||
ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGGA others(2): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 NA18906.hp1 NA19030.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0002 | 3 | 410 | 0.0073 | 9 | c.*33 others(20): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | ||||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01256.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0018a0001c0001t0001g0051a0001c0001t0001g0122others(6): Show | 14 | 422 | 0.0332 | 9 | c.595 others(26): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
AMACR_chr5_33981165_34013050 | 33991726 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0015a0001c0001t0028a0002c0002t0001others(2): Show | a0001c0001t0015g0104a0001c0001t0015g0140a0001c0001t0028g0105others(4): Show | 10 | 438 | 0.0228 | 9 | c.740 others(26): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 4/4 | chr5 | TogoVar | ||||||
AMBRA1_chr11_46391414_46599023 | 46425310 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03471.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0038a0001c0001t0001g0086 | 3 | 160 | 0.0188 | 9 | c.297 others(28): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 14/17 | chr11 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95954573 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02293.hp1 HG02559.hp1 others(18): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0030a0001c0001t0001g0039a0001c0001t0001g0040others(16): Show | 21 | 404 | 0.0520 | 9 | c.245 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95959959 | A | ATAATTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(324): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(240): Show | 327 | 404 | 0.8094 | 9 | c.588 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(38): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0011a0001c0004t0002 | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0014others(30): Show | 41 | 404 | 0.1015 | 9 | c.813 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964032 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01071.hp2 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(4): Show | a0001c0002t0002g0251a0001c0002t0003g0019a0001c0002t0003g0043others(18): Show | 25 | 404 | 0.0619 | 9 | c.938 others(26): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(94): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(59): Show | 97 | 404 | 0.2401 | 9 | c.939 others(24): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD2_chr16_2515371_2536417 | 2533275 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0002a0001c0001t0003g0009a0001c0001t0003g0028others(4): Show | 14 | 318 | 0.0440 | 9 | c.*37 others(20): Show |
AMDHD2 | ENSG00000162066.16 | transcript | ENST00000293971.11 | protein_coding | 1859 | chr16 | TogoVar | ||||||
AMER1_chrX_64180117_64210708 | 64189517 | T | TGTGTGTG others(2): Show |
3_prime_UTR_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0003 | a0001c0003t0089 | a0001c0003t0089g0164 | 1 | 243 | 0.0041 | 9 | c.*36 others(18): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 361 | chrX | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCATCAT others(2): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02886.hp1 NA19074.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0039a0003c0003t0024a0003c0003t0025 | a0001c0001t0039g0000a0003c0003t0024g0000a0003c0003t0025g0000 | 4 | 416 | 0.0096 | 9 | c.-28 others(20): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174477 | G | GTCGTCAT others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01175.hp1 others(43): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(16): Show | 46 | 416 | 0.1106 | 9 | c.-28 others(20): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2190 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01123.hp1 others(90): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0157a0001c0001t0001g0177a0001c0001t0001g0237others(90): Show | 93 | 356 | 0.2612 | 9 | c.*34 others(20): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01255.hp2 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0048a0001c0001t0003g0039a0001c0001t0004g0106others(3): Show | 6 | 288 | 0.0208 | 9 | c.113 others(28): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38472265 | C | CAAGGTTG others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02970.hp1 HG03130.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0004a0003c0006t0004g0007a0003c0006t0004g0011others(1): Show | 4 | 288 | 0.0139 | 9 | c.590 others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38571268 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03225.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0112a0001c0001t0003g0122a0001c0001t0003g0148 | 3 | 288 | 0.0104 | 9 | c.70- others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38571280 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02630.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0112a0001c0001t0003g0062a0001c0001t0003g0122others(5): Show | 8 | 288 | 0.0278 | 9 | c.70- others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38627387 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG02735.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(4): Show | 7 | 288 | 0.0243 | 9 | c.69+ others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2691730 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 HG02135.hp2 others(12): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0065a0001c0002t0010others(9): Show | a0001c0001t0001g0176a0001c0001t0065g0175a0001c0002t0010g0196others(12): Show | 15 | 438 | 0.0343 | 9 | c.-21 others(28): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AMZ2_chr17_68243043_68262155 | 68246195 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0010others(2): Show | a0001c0001t0003g0004a0001c0002t0001g0001a0001c0002t0001g0037others(3): Show | 32 | 438 | 0.0731 | 9 | c.-25 others(20): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 1847 | chr17 | TogoVar | ||||||
ANAPC10_chr4_144989576_145103196 | 145026988 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02056.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0066a0001c0001t0001g0136a0001c0001t0009g0077 | 3 | 336 | 0.0089 | 9 | c.328 others(28): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC16_chr10_72211012_72240860 | 72220325 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02895.hp1 HG02970.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0016a0001c0002t0004others(3): Show | a0001c0001t0003g0196a0001c0001t0016g0019a0001c0002t0004g0011others(5): Show | 9 | 352 | 0.0256 | 9 | c.-27 others(26): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANAPC1_chr2_111762640_111889193 | 111764893 | T | TATATATA others(2): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01346.hp2 HG01943.hp2 others(8): Show |
a0001a0008 | a0001c0004a0001c0006a0001c0007others(2): Show | a0001c0004t0003a0001c0006t0005a0001c0007t0002others(2): Show | a0001c0004t0003g0164a0001c0004t0003g0168a0001c0004t0003g0179others(8): Show | 11 | 370 | 0.0297 | 9 | c.*43 others(20): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 2746 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111769674 | G | GCTGAGAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(58): Show |
a0001 | a0001c0002a0001c0003a0001c0014others(3): Show | a0001c0002t0002a0001c0003t0004a0001c0003t0019others(4): Show | a0001c0002t0002g0001a0001c0002t0002g0150a0001c0002t0002g0151others(56): Show | 61 | 370 | 0.1649 | 9 | c.572 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 47/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111833681 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp1 others(15): Show |
a0001a0009a0011 | a0001c0001a0001c0006a0001c0009others(2): Show | a0001c0001t0003a0001c0006t0005a0001c0009t0003others(2): Show | a0001c0001t0003g0339a0001c0001t0003g0340a0001c0001t0003g0341others(15): Show | 18 | 370 | 0.0487 | 9 | c.238 others(26): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 19/47 | chr2 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111864462 | A | ATATATAC others(2): Show |
intron_variant | MODIFIER | HG01361.hp1 HG03688.hp1 NA18947.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0017 | a0001c0004t0003g0159a0001c0004t0003g0160a0001c0004t0003g0249others(1): Show | 4 | 370 | 0.0108 | 9 | c.831 others(24): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 8/47 | chr2 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121352707 | G | GGTTGTTG others(2): Show |
upstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02015.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0117a0001c0001t0002g0239a0001c0002t0001g0096others(1): Show | 4 | 278 | 0.0144 | 9 | c.-37 others(18): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 297 | chr12 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121352718 | T | TTGGTGGT others(2): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0117a0001c0001t0002g0238a0001c0004t0001g0099 | 3 | 278 | 0.0108 | 9 | c.-38 others(18): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 308 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110376568 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01928.hp1 HG01934.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0056a0001c0001t0001g0062a0001c0001t0001g0063others(14): Show | 17 | 298 | 0.0571 | 9 | c.135 others(26): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 9/10 | chr12 | TogoVar | ||||||
ANAPC7_chr12_110367900_110408708 | 110382455 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01928.hp1 NA18747.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0062a0001c0001t0001g0133 | 3 | 298 | 0.0101 | 9 | c.935 others(24): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 212996636 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | NA18747.hp2 NA18981.hp2 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0193 | 4 | 392 | 0.0102 | 9 | c.148 others(26): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
ANGEL2_chr1_212987182_213020867 | 213018750 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 HG02970.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0003t0006 | a0001c0001t0001g0077a0001c0001t0001g0087a0001c0001t0009g0119others(2): Show | 5 | 392 | 0.0128 | 9 | c.-30 others(20): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 2884 | chr1 | TogoVar | ||||||
ANGPT1_chr8_107244482_107502918 | 107434616 | A | AAACTTCA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010others(98): Show | 101 | 292 | 0.3459 | 9 | c.297 others(28): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
ANGPT4_chr20_864900_921334 | 905680 | C | CAAGACAT others(2): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02976.hp1 HG03098.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0008a0003c0011 | a0001c0003t0003a0001c0008t0002a0003c0011t0003 | a0001c0003t0003g0031a0001c0003t0003g0118a0001c0003t0003g0218others(2): Show | 5 | 432 | 0.0116 | 9 | c.309 others(28): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
ANGPTL1_chr1_178844535_178876077 | 178856394 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0049others(15): Show | 25 | 424 | 0.0590 | 9 | c.824 others(26): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8368024 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02630.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0107a0002c0002t0001g0108 | 6 | 408 | 0.0147 | 9 | c.548 others(26): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ANGPTL6_chr19_10087338_10107678 | 10088953 | T | TATAATAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01928.hp1 HG01993.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(5): Show | 9 | 462 | 0.0195 | 9 | c.*36 others(20): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 3384 | chr19 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113296019 | T | TAACAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02258.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0055a0001c0001t0001g0178a0001c0004t0001g0003others(10): Show | 13 | 178 | 0.0730 | 9 | c.247 others(28): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 22/45 | chr4 | TogoVar |