view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DENND6B_chr22_50304030_50332012 | 50307773 | G | GGAGGGGG others(38): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0279 | 1 | 120 | 0.0083 | 45 | c.*43 others(56): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 1256 | chr22 | TogoVar | |||||||
DEPTOR_chr8_119868722_120055918 | 120021058 | C | CAAAATAA others(38): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0011 | 1 | 46 | 0.0217 | 45 | c.110 others(66): Show |
DEPTOR | ENSG00000155792.10 | transcript | ENST00000286234.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DERA_chr12_15906332_16042381 | 15936957 | T | TGTCCTGT others(38): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 |
2 | 234 | 0.0085 | 45 | c.32- others(62): Show |
DERA | ENSG00000023697.13 | transcript | ENST00000428559.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DGCR6L_chr22_20309238_20325060 | 20322832 | T | TGTGTGTG others(38): Show |
upstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 35 | 0.0286 | 45 | c.-28 others(56): Show |
DGCR6L | ENSG00000128185.10 | transcript | ENST00000248879.8 | protein_coding | 2773 | chr22 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211769 | T | TATTTACT others(38): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0102 | 1 | 112 | 0.0089 | 45 | c.212 others(66): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14211833 | T | TATTTACT others(38): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0078 | 1 | 90 | 0.0111 | 45 | c.212 others(66): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212090 | T | TATTTACT others(38): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0004 | a0004c0010 | a0004c0010t0033 | a0004c0010t0033g0007 | 1 | 96 | 0.0104 | 45 | c.212 others(66): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212259 | T | TATTTACT others(38): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0078 | 1 | 107 | 0.0093 | 45 | c.212 others(66): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKD_chr2_233349494_233477098 | 233397045 | T | TCCAGAGG others(38): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00673.hp2 others(85): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0104 a0001c0001t0001g0206 a0001c0001t0001g0229 others(84): Show |
88 | 257 | 0.3424 | 45 | c.348 others(62): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397050 | A | AGGGGACC others(38): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0106 | 1 | 334 | 0.0030 | 45 | c.348 others(62): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397217 | T | TGCCAGAG others(38): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA20129.hp1 |
a0001 | a0001c0004 | a0001c0004t0013a0001c0004t0021 | a0001c0004t0013g0129 a0001c0004t0021g0122 a0001c0004t0021g0123 |
3 | 287 | 0.0105 | 45 | c.348 others(62): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397358 | G | GCAGAGTG others(38): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03669.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0230 a0001c0002t0004g0110 |
2 | 311 | 0.0064 | 45 | c.348 others(62): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGKD_chr2_233349494_233477098 | 233397418 | T | TCCAGAGG others(38): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0042 | a0001c0001t0024g0077 a0001c0001t0024g0154 a0001c0001t0042g0155 |
3 | 333 | 0.0090 | 45 | c.348 others(62): Show |
DGKD | ENSG00000077044.11 | transcript | ENST00000264057.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DGUOK_chr2_73921880_73963946 | 73923641 | C | CAAGAAAA others(38): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0098 |
2 | 80 | 0.0250 | 45 | c.-32 others(56): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3238 | chr2 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0046 | 1 | 98 | 0.0102 | 45 | c.180 others(62): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIAPH3_chr13_59660583_60168928 | 60156939 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0044 | 1 | 98 | 0.0102 | 45 | c.180 others(62): Show |
DIAPH3 | ENSG00000139734.19 | transcript | ENST00000400324.9 | protein_coding | 1/27 | chr13 | TogoVar | |||||||
DIP2B_chr12_50499985_50753657 | 50505001 | T | TGGCGGCG others(38): Show |
5_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0007 | a0007c0019 | a0007c0019t0023 | a0007c0019t0023g0100 | 1 | 245 | 0.0041 | 45 | c.-11 others(54): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/38 | 116 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DIP2B_chr12_50499985_50753657 | 50593717 | T | TCTCCTCT others(38): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0257 | 1 | 247 | 0.0040 | 45 | c.101 others(64): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593722 | T | TCTCCTCT others(38): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04115.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0018 | a0001c0002t0003g0184 a0001c0002t0003g0188 a0001c0002t0003g0263 others(2): Show |
5 | 233 | 0.0215 | 45 | c.101 others(64): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593742 | T | TCTCCTCT others(38): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0104 | 1 | 228 | 0.0044 | 45 | c.101 others(64): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593742 | T | TCTCCTCT others(38): Show |
intron_variant | MODIFIER | HG01168.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0030 | a0001c0002t0003g0230 a0001c0002t0030g0187 |
2 | 229 | 0.0087 | 45 | c.101 others(64): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50593742 | T | TCTCCTCT others(38): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0229 | 1 | 228 | 0.0044 | 45 | c.101 others(64): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50740457 | T | TGAGATTA others(38): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0010 | a0010c0014 | a0010c0014t0004 | a0010c0014t0004g0224 | 1 | 282 | 0.0035 | 45 | c.435 others(62): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 477917 | C | CAGGAAAA others(38): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0041 | 1 | 88 | 0.0114 | 45 | c.158 others(62): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 647270 | T | TGGGAGAG others(38): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0034 | 1 | 88 | 0.0114 | 45 | c.85+ others(62): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DIS3L2_chr2_231956713_232342192 | 232000613 | T | TTTTCCTT others(38): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 a0001c0002t0001g0052 |
2 | 18 | 0.1111 | 45 | c.-93 others(64): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L2_chr2_231956713_232342192 | 232333176 | G | GCCGCCGC others(38): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0210 | 1 | 67 | 0.0149 | 45 | c.201 others(62): Show |
DIS3L2 | ENSG00000144535.20 | transcript | ENST00000325385.12 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DIS3L_chr15_66288568_66338898 | 66309094 | A | AAAAATAT others(38): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 11 | 0.0909 | 45 | c.558 others(60): Show |
DIS3L | ENSG00000166938.13 | transcript | ENST00000319212.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
DISP2_chr15_40353219_40383621 | 40374014 | A | AAAAAAAA others(38): Show |
3_prime_UTR_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0146 | a0001c0003t0146g0003 | 1 | 146 | 0.0068 | 45 | c.*36 others(56): Show |
DISP2 | ENSG00000140323.6 | transcript | ENST00000267889.5 | protein_coding | 8/8 | 3698 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
DLAT_chr11_112020408_112069404 | 112067685 | A | AAAAAAAA others(38): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0276 | 1 | 81 | 0.0123 | 45 | c.*51 others(56): Show |
DLAT | ENSG00000150768.18 | transcript | ENST00000280346.11 | protein_coding | 3282 | chr11 | TogoVar | |||||||
DLC1_chr8_13078361_13519851 | 13479829 | G | GAGAAAAA others(38): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02615.hp2 others(6): Show |
a0001a0002a0012 | a0001c0001a0001c0011a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0039others(6): Show | a0001c0001t0002g0070 a0001c0001t0009g0088 a0001c0001t0039g0071 others(6): Show |
9 | 197 | 0.0457 | 45 | c.102 others(66): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 2/17 | chr8 | TogoVar | |||||||
DLG1_chr3_197037560_197303612 | 197070565 | A | ATTTTTTT others(38): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0290 | 1 | 93 | 0.0108 | 45 | c.200 others(64): Show |
DLG1 | ENSG00000075711.21 | transcript | ENST00000667157.1 | protein_coding | 18/24 | chr3 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83753883 | T | TATCATAT others(38): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 10 | 0.1000 | 45 | c.182 others(66): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 953683 | T | TGAAAGAA others(38): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0009 | a0001c0009t0012 | a0001c0009t0012g0006 | 1 | 40 | 0.0250 | 45 | c.73+ others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1164340 | G | GCCCCCAG others(38): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02071.hp1 HG02074.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0002a0001c0002t0009a0001c0003t0001others(6): Show | a0001c0002t0002g0022 a0001c0002t0009g0039 a0001c0003t0001g0025 others(6): Show |
9 | 37 | 0.2432 | 45 | c.74- others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1215405 | A | AGGGTGCA others(38): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03516.hp1 |
a0001a0002 | a0001c0011a0002c0001 | a0001c0011t0015a0002c0001t0019 | a0001c0011t0015g0001 a0002c0001t0019g0031 |
2 | 19 | 0.1053 | 45 | c.74- others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1267623 | T | TAAAATAA others(38): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 35 | 0.0286 | 45 | c.106 others(62): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACAT others(38): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp1 |
a0002a0021 | a0002c0051a0021c0060 | a0002c0051t0003a0021c0060t0001 | a0002c0051t0003g0091 a0021c0060t0001g0113 |
2 | 39 | 0.0513 | 45 | c.592 others(64): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32335640 | C | CATAACGT others(38): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0010 | a0003c0010t0007 | a0003c0010t0007g0010 | 1 | 38 | 0.0263 | 45 | c.592 others(64): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMRTC1B_chrX_72771890_72853803 | 72840183 | A | AAAAGCAA others(38): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 | 1 | 2 | 0.5000 | 45 | c.-94 others(62): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(38): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 2 | 0.5000 | 45 | c.-94 others(62): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMXL1_chr5_119066087_119254127 | 119123321 | G | GGGGAGAG others(38): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 NA20129.hp2 others(1): Show |
a0001a0026 | a0001c0004a0026c0022 | a0001c0004t0003a0026c0022t0003 | a0001c0004t0003g0008 a0001c0004t0003g0009 a0001c0004t0003g0013 others(1): Show |
4 | 112 | 0.0357 | 45 | c.110 others(64): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123370 | A | AGAGGGAG others(38): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03209.hp1 NA19004.hp2 others(1): Show |
a0001a0025 | a0001c0002a0001c0006a0001c0012others(1): Show | a0001c0002t0005a0001c0006t0002a0001c0012t0001others(1): Show | a0001c0002t0005g0216 a0001c0006t0002g0017 a0001c0012t0001g0231 others(1): Show |
4 | 220 | 0.0182 | 45 | c.110 others(64): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674121 | G | GAGGAGGA others(38): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 240 | 0.0042 | 45 | c.10+ others(60): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(38): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02145.hp2 others(5): Show |
a0006a0008a0013others(3): Show | a0006c0026a0008c0009a0013c0079others(4): Show | a0006c0026t0002a0008c0009t0002a0013c0079t0001others(4): Show | a0006c0026t0002g0079 a0008c0009t0002g0149 a0013c0079t0001g0080 others(5): Show |
8 | 38 | 0.2105 | 45 | c.842 others(60): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911734 | G | GGGGGTCT others(38): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02647.hp1 others(1): Show |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0006 a0005c0007t0002g0007 a0005c0007t0002g0041 others(1): Show |
4 | 156 | 0.0256 | 45 | c.101 others(66): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0061 | a0061c0071 | a0061c0071t0001 | a0061c0071t0001g0070 | 1 | 59 | 0.0169 | 45 | c.133 others(64): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57499647 | A | AAAAAAAA others(38): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0015 | a0015c0012 | a0015c0012t0001 | a0015c0012t0001g0109 | 1 | 59 | 0.0169 | 45 | c.133 others(64): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 11/73 | chr3 | TogoVar | |||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0094 | 1 | 276 | 0.0036 | 45 | c.229 others(62): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7725440 | A | ATATATAT others(38): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0062 | a0062c0119 | a0062c0119t0001 | a0062c0119t0001g0126 | 1 | 276 | 0.0036 | 45 | c.229 others(62): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |