| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADARB2_chr10_1172313_1742525 | 1240150 | C | CCCCTCTG others(40): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0096 | 1 | 106 | 0.0094 | 47 | c.136 others(66): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADGRB1_chr8_142444649_142550007 | 142501483 | T | TGAGGGTG others(40): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02109.hp1 HG02132.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0132a0001c0001t0002g0081a0001c0003t0001g0152others(6): Show | 9 | 310 | 0.0290 | 47 | c.267 others(66): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ADGRB3_chr6_68630282_69394506 | 69031550 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG02074.hp2 HG03486.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0064a0001c0003t0001g0033 | 2 | 120 | 0.0167 | 47 | c.210 others(68): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 13/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGRG6_chr6_142297007_142451261 | 142318187 | T | TTATATAT others(40): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01884.hp2 NA18957.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0013a0002c0003t0002 | a0001c0001t0013g0259a0002c0003t0002g0029a0002c0003t0002g0030others(9): Show | 12 | 260 | 0.0462 | 47 | c.103 others(64): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| ADGRL2_chr1_81795934_81998932 | 81839896 | T | TATATATA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp1 others(44): Show |
a0001a0003 | a0001c0001a0001c0020a0003c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0003g0104a0001c0001t0003g0113a0001c0001t0004g0002others(43): Show | 47 | 306 | 0.1536 | 47 | c.73+ others(62): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADGRL2_chr1_81795934_81998932 | 81839907 | T | TTTCCATC others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0145a0001c0018t0052 | a0001c0001t0145g0132a0001c0018t0052g0133 | 2 | 306 | 0.0065 | 47 | c.73+ others(62): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADGRL2_chr1_81795934_81998932 | 81839933 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0147 | 1 | 306 | 0.0033 | 47 | c.73+ others(62): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ADRM1_chr20_62297997_62313862 | 62309634 | A | AGGGTGGG others(40): Show |
downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 368 | 0.0027 | 47 | c.*87 others(56): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 773 | chr20 | TogoVar | ||||||
| ADRM1_chr20_62297997_62313862 | 62309635 | G | GGGTGGGA others(40): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG01192.hp2 HG01934.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0003t0001a0001c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0013others(2): Show | 8 | 368 | 0.0217 | 47 | c.*87 others(56): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 774 | chr20 | TogoVar | ||||||
| ADRM1_chr20_62297997_62313862 | 62309635 | G | GGGTGGGA others(40): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 HG02602.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 3 | 368 | 0.0082 | 47 | c.*87 others(56): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 774 | chr20 | TogoVar | ||||||
| ADRM1_chr20_62297997_62313862 | 62309636 | G | GGTGGGAG others(40): Show |
downstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 368 | 0.0027 | 47 | c.*87 others(56): Show |
ADRM1 | ENSG00000130706.13 | transcript | ENST00000253003.7 | protein_coding | 775 | chr20 | TogoVar | ||||||
| AGAP5_chr10_73669295_73703109 | 73669760 | A | AAAAAAAA others(40): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 368 | 0.0027 | 47 | c.*48 others(58): Show |
AGAP5 | ENSG00000172650.15 | transcript | ENST00000374094.9 | protein_coding | 4534 | chr10 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15480941 | C | CACATTAA others(40): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0045 | 2 | 236 | 0.0085 | 47 | c.410 others(66): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGPAT1_chr6_32163212_32181084 | 32163897 | T | TAAGCTCA others(40): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 445 | 0.0023 | 47 | c.*53 others(58): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 4314 | chr6 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 391767 | G | GACGCAGG others(40): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01517.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0019a0003c0004t0004a0003c0004t0012 | a0002c0002t0019g0007a0003c0004t0004g0004a0003c0004t0004g0009others(2): Show | 5 | 268 | 0.0187 | 47 | c.351 others(66): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | chr5 | TogoVar | ||||||
| AIRE_chr21_44280876_44303648 | 44296718 | A | AACAAGAG others(40): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0008 | a0008c0040 | a0008c0040t0001 | a0008c0040t0001g0160 | 1 | 426 | 0.0024 | 47 | c.156 others(64): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| AKAP10_chr17_19899302_19982828 | 19951143 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02055.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011 | a0001c0001t0007g0001a0001c0001t0007g0054a0001c0001t0007g0055others(1): Show | 6 | 278 | 0.0216 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19951143 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03540.hp2 NA19240.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0017a0001c0001t0020a0005c0005t0013 | a0001c0001t0017g0008a0001c0001t0020g0009a0005c0005t0013g0006others(1): Show | 4 | 278 | 0.0144 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19951169 | A | ATCTGGGA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(85): Show |
a0002a0004a0006 | a0002c0002a0002c0009a0004c0004others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0016others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0059a0002c0002t0001g0064others(84): Show | 88 | 278 | 0.3166 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19951172 | T | TGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01081.hp1 others(10): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0068a0002c0002t0001g0072a0002c0002t0001g0082others(10): Show | 13 | 278 | 0.0468 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| AKAP10_chr17_19899302_19982828 | 19951181 | G | GGTGGGGG others(40): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02132.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0004g0004a0001c0001t0004g0005a0001c0001t0004g0253others(17): Show | 20 | 278 | 0.0719 | 47 | c.878 others(64): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 4/14 | chr17 | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1588443 | C | CCTCCTCC others(40): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 151 | 0.0066 | 47 | c.-33 others(58): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3160 | chrX | TogoVar | ||||||
| AKAP17A_chrX_1586604_1607520 | 1596453 | C | CCTCCCAC others(40): Show |
intron_variant | MODIFIER | HG01358.hp1 HG03688.hp1 NA18947.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0002a0002c0003t0002a0003c0006t0003 | a0001c0001t0002g0104a0002c0003t0002g0055a0003c0006t0003g0105 | 3 | 151 | 0.0199 | 47 | c.911 others(62): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AKAP17A_chrX_1586604_1607520 | 1596855 | T | TCCTCCTA others(40): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp1 others(31): Show |
a0000a0001a0002others(4): Show | a0000c0018a0001c0004a0002c0002others(5): Show | a0000c0018t0002a0001c0004t0001a0001c0004t0002others(8): Show | a0000c0018t0002g0044a0001c0004t0001g0006a0001c0004t0001g0020others(24): Show | 34 | 151 | 0.2252 | 47 | c.911 others(64): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| AKIRIN2_chr6_87669860_87707233 | 87674643 | T | TTTATAAA others(40): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 HG03130.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0056a0001c0002t0007g0057 | 2 | 406 | 0.0049 | 47 | c.*95 others(56): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 216 | chr6 | TogoVar | ||||||
| ALG10B_chr12_38311774_38334721 | 38330369 | G | GCCCCCCA others(40): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02056.hp2 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0025 | a0001c0001t0004g0002a0001c0001t0005g0002a0001c0001t0025g0002 | 3 | 452 | 0.0066 | 47 | c.*91 others(58): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 649 | chr12 | TogoVar | ||||||
| ALLC_chr2_3653200_3707671 | 3690306 | T | TCCCCCTC others(40): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 274 | 0.0037 | 47 | c.512 others(64): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ALOX5_chr10_45369216_45451117 | 45391077 | G | GTCTCCCT others(40): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 345 | 0.0029 | 47 | c.350 others(64): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| ALPP_chr2_232373751_232387889 | 232385115 | A | AAGAAGAA others(40): Show |
downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 410 | 0.0024 | 47 | c.*33 others(58): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 2227 | chr2 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38441790 | C | CATATATA others(40): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 288 | 0.0035 | 47 | c.101 others(66): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38441801 | T | TATATATC others(40): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01358.hp2 HG01496.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0001t0003g0030a0001c0001t0003g0236a0001c0002t0002g0233others(5): Show | 8 | 288 | 0.0278 | 47 | c.101 others(66): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 11/20 | chr7 | TogoVar | ||||||
| AMPH_chr7_38378704_38636373 | 38610327 | A | AGAGAGAG others(40): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 288 | 0.0035 | 47 | c.69+ others(64): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
| ANGPTL5_chr11_101885674_101921522 | 101889419 | G | GAAAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 422 | 0.0024 | 47 | c.*18 others(58): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1254 | chr11 | TogoVar | ||||||
| ANGPTL5_chr11_101885674_101921522 | 101889419 | G | GAAAGAGA others(40): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 422 | 0.0024 | 47 | c.*18 others(58): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 1254 | chr11 | TogoVar | ||||||
| ANKDD1A_chr15_64906902_64963691 | 64951561 | T | TTCTTCTG others(40): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0236 | 1 | 338 | 0.0030 | 47 | c.148 others(66): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| ANKDD1B_chr5_75606453_75676846 | 75612350 | T | TCCGCCCC others(40): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02572.hp2 HG02622.hp1 others(1): Show |
a0008a0010a0020 | a0008c0008a0010c0011a0020c0030 | a0008c0008t0004a0010c0011t0001a0020c0030t0007 | a0008c0008t0004g0161a0008c0008t0004g0162a0010c0011t0001g0164others(1): Show | 4 | 372 | 0.0108 | 47 | c.193 others(62): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| ANKHD1_chr5_140396833_140544849 | 140485397 | A | ACACACAC others(40): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0314 | 1 | 322 | 0.0031 | 47 | c.199 others(64): Show |
ANKHD1 | ENSG00000131503.21 | transcript | ENST00000360839.7 | protein_coding | 12/33 | chr5 | TogoVar | ||||||
| ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01261.hp2 NA19002.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0042a0001c0003t0002g0256 | 2 | 314 | 0.0064 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA18973.hp1 NA18979.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0279a0001c0003t0002g0297 | 2 | 314 | 0.0064 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ANKIB1_chr7_92240974_92406383 | 92309942 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0298 | 1 | 314 | 0.0032 | 47 | c.486 others(64): Show |
ANKIB1 | ENSG00000001629.10 | transcript | ENST00000265742.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ANKRA2_chr5_73547190_73570639 | 73563675 | G | GTATTTTG others(40): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 | 1 | 392 | 0.0026 | 47 | c.-10 others(64): Show |
ANKRA2 | ENSG00000164331.10 | transcript | ENST00000296785.8 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ANKRD10_chr13_110873540_110920069 | 110892416 | C | CAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0247 | 2 | 362 | 0.0055 | 47 | c.691 others(62): Show |
ANKRD10 | ENSG00000088448.14 | transcript | ENST00000267339.6 | protein_coding | 4/5 | chr13 | TogoVar | ||||||
| ANKRD11_chr16_89262630_89495561 | 89390139 | C | CAGAGAAG others(40): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02896.hp2 HG03130.hp1 others(2): Show |
a0001a0002a0010 | a0001c0022a0002c0002a0010c0029others(1): Show | a0001c0022t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0022t0001g0263a0002c0002t0001g0219a0002c0002t0002g0220others(2): Show | 5 | 310 | 0.0161 | 47 | c.-60 others(66): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
| ANKRD12_chr18_9131781_9290985 | 9196122 | C | CACACACA others(40): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0060 | 1 | 318 | 0.0031 | 47 | c.235 others(62): Show |
ANKRD12 | ENSG00000101745.17 | transcript | ENST00000262126.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| ANKRD27_chr19_32592006_32680180 | 32656103 | G | GAAAGAAA others(40): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0165 | 1 | 348 | 0.0029 | 47 | c.102 others(64): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 2/28 | chr19 | TogoVar | ||||||
| ANKRD27_chr19_32592006_32680180 | 32656103 | G | GAAAGAAA others(40): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0007 | 1 | 348 | 0.0029 | 47 | c.102 others(64): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 2/28 | chr19 | TogoVar | ||||||
| ANKRD45_chr1_173603336_173674851 | 173613465 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0303 | 1 | 342 | 0.0029 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
| ANKRD45_chr1_173603336_173674851 | 173613465 | G | GCAGCCCC others(40): Show |
intron_variant | MODIFIER | HG03098.hp2 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0041a0002c0002t0002g0050 | 2 | 342 | 0.0059 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
| ANKRD45_chr1_173603336_173674851 | 173613490 | C | CGTCCGGG others(40): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0026 | 1 | 342 | 0.0029 | 47 | c.731 others(64): Show |
ANKRD45 | ENSG00000183831.7 | transcript | ENST00000333279.3 | protein_coding | 5/5 | chr1 | TogoVar | ||||||
| ANKS1B_chr12_98738974_99989936 | 99139440 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0035 | 1 | 48 | 0.0208 | 47 | c.252 others(68): Show |
ANKS1B | ENSG00000185046.21 | transcript | ENST00000683438.2 | protein_coding | 15/26 | chr12 | TogoVar |