| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYGB_chr17_76522356_76542709 | 76525968 | CCCCAGGC others(295): Show |
C | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019 | a0001c0001t0010g0022a0001c0001t0010g0054a0001c0001t0019g0195 | 6 | 396 | 0.0152 | -302 | c.*23 others(11): Show |
CYGB | ENSG00000161544.10 | transcript | ENST00000293230.10 | protein_coding | 1387 | chr17 | TogoVar | ||||||
| DAB2IP_chr9_121646634_121790530 | 121649215 | ACTAGCTG others(295): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0111a0001c0001t0001g0133a0001c0001t0001g0188others(27): Show | 30 | 224 | 0.1339 | -302 | c.-25 others(11): Show |
DAB2IP | ENSG00000136848.19 | transcript | ENST00000408936.8 | protein_coding | 2418 | chr9 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211489 | TATTTACT others(295): Show |
T | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 148 | 0.0068 | -302 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 321989 | CACTCACG others(295): Show |
C | intron_variant | MODIFIER | HG02293.hp2 | a0025 | a0025c0126 | a0025c0126t0002 | a0025c0126t0002g0122 | 1 | 256 | 0.0039 | -302 | c.828 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89619026 | CTCCCTGC others(295): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 250 | 0.0040 | -302 | c.-10 others(19): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137567664 | ACTCTGTC others(295): Show |
A | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 340 | 0.0029 | -302 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| ERC1_chr12_986223_1500931 | 1090597 | GAAAGTGC others(295): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02895.hp1 |
a0002 | a0002c0002 | a0002c0002t0066a0002c0002t0131 | a0002c0002t0066g0139a0002c0002t0131g0065 | 2 | 162 | 0.0124 | -302 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 675485 | CGGCGAGG others(295): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0010 | a0010c0015 | a0010c0015t0001 | a0010c0015t0001g0084 | 1 | 378 | 0.0027 | -302 | c.305 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
| FOXP1_chr3_70949708_71588728 | 71193146 | TTTATTTG others(295): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0061 | a0001c0001t0047g0068a0001c0001t0061g0077 | 2 | 96 | 0.0208 | -302 | c.180 others(17): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 6/20 | chr3 | TogoVar | ||||||
| GGA1_chr22_37603834_37638564 | 37612377 | CAGGAGAA others(295): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 370 | 0.0027 | -302 | c.44- others(15): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| HASPIN_chr17_3718903_3731699 | 3722094 | GCTTGAAC others(295): Show |
G | upstream_gene_variant | MODIFIER | HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 414 | 0.0048 | -302 | c.-18 others(11): Show |
HASPIN | ENSG00000177602.5 | transcript | ENST00000325418.5 | protein_coding | 1808 | chr17 | TogoVar | ||||||
| IQCA1_chr2_236319151_236512476 | 236379285 | AAGGGGAG others(295): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0011 | a0011c0011 | a0011c0011t0007 | a0011c0011t0007g0018 | 1 | 208 | 0.0048 | -302 | c.147 others(18): Show |
IQCA1 | ENSG00000132321.17 | transcript | ENST00000409907.8 | protein_coding | 12/18 | chr2 | TogoVar | ||||||
| ITGA5_chr12_54390261_54424266 | 54414587 | CTGTAATC others(295): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02698.hp1 HG03017.hp2 others(9): Show |
a0001a0011 | a0001c0002a0011c0022 | a0001c0002t0003a0011c0022t0003 | a0001c0002t0003g0009a0001c0002t0003g0056a0001c0002t0003g0057others(4): Show | 12 | 330 | 0.0364 | -302 | c.219 others(17): Show |
ITGA5 | ENSG00000161638.11 | transcript | ENST00000293379.9 | protein_coding | 1/29 | chr12 | TogoVar | ||||||
| ITGA5_chr12_54390261_54424266 | 54414618 | GGGCAGAT others(295): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0050 | 1 | 330 | 0.0030 | -302 | c.219 others(17): Show |
ITGA5 | ENSG00000161638.11 | transcript | ENST00000293379.9 | protein_coding | 1/29 | chr12 | TogoVar | ||||||
| ITGAE_chr17_3709628_3806188 | 3722094 | GCTTGAAC others(295): Show |
G | intron_variant | MODIFIER | HG03041.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0034 | 2 | 302 | 0.0066 | -302 | c.323 others(18): Show |
ITGAE | ENSG00000083457.12 | transcript | ENST00000263087.9 | protein_coding | 28/30 | chr17 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132161837 | GCTAGGGG others(295): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01167.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0002c0008others(1): Show | a0001c0001t0004a0002c0004t0004a0002c0008t0004others(1): Show | a0001c0001t0004g0127a0002c0004t0004g0040a0002c0004t0004g0042others(4): Show | 7 | 158 | 0.0443 | -302 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KIAA1671_chr22_24947716_25202448 | 25000190 | TTTTTTTT others(295): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01515.hp2 HG01516.hp2 others(4): Show |
a0001a0009a0014others(1): Show | a0001c0001a0001c0004a0001c0031others(4): Show | a0001c0001t0001a0001c0004t0007a0001c0031t0005others(4): Show | a0001c0001t0001g0050a0001c0004t0007g0149a0001c0031t0005g0021others(4): Show | 7 | 254 | 0.0276 | -302 | c.-20 others(21): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| KNDC1_chr10_133155219_133231412 | 133223108 | TGTGTGTG others(295): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG02622.hp2 HG02965.hp1 |
a0003 | a0003c0016 | a0003c0016t0006 | a0003c0016t0006g0117a0003c0016t0006g0118a0003c0016t0006g0225 | 3 | 332 | 0.0090 | -302 | c.501 others(19): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | chr10 | TogoVar | ||||||
| KNDC1_chr10_133155219_133231412 | 133223151 | GTGTGTGA others(295): Show |
G | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0297 | 1 | 332 | 0.0030 | -302 | c.501 others(19): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC24_chr8_144517388_144532033 | 144531294 | AAGGGCAC others(295): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02257.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0046a0002c0002t0001g0001 | 2 | 398 | 0.0050 | -302 | c.-46 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4262 | chr8 | TogoVar | ||||||
| LRRC24_chr8_144517388_144532033 | 144531471 | AAGGGCAC others(295): Show |
A | upstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 0.0025 | -302 | c.-48 others(11): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4439 | chr8 | TogoVar | ||||||
| MAEA_chr4_1284891_1345137 | 1333822 | CCCCATGC others(295): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 388 | 0.0026 | -302 | c.765 others(16): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| MAPK6_chr15_52014219_52072375 | 52026875 | ACCCGTCT others(295): Show |
A | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 356 | 0.0028 | -302 | c.-63 others(19): Show |
MAPK6 | ENSG00000069956.14 | transcript | ENST00000261845.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| MTA3_chr2_42563632_42761946 | 42605269 | ACCCCCAC others(295): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0216 | 1 | 312 | 0.0032 | -302 | c.191 others(17): Show |
MTA3 | ENSG00000057935.14 | transcript | ENST00000405094.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MYZAP_chr15_57586904_57690364 | 57688134 | TGTGTGTA others(295): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 352 | 0.0028 | -302 | c.*36 others(11): Show |
MYZAP | ENSG00000263155.6 | transcript | ENST00000267853.10 | protein_coding | 2771 | chr15 | TogoVar | ||||||
| PPP6R2_chr22_50338327_50450090 | 50344107 | TAGTCAGT others(295): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0321 | 1 | 340 | 0.0029 | -302 | c.-14 others(17): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| PRKCZ_chr1_2045411_2190395 | 2122563 | AGGGTCGT others(295): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 286 | 0.0035 | -302 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RIPOR2_chr6_24799284_24940960 | 24878894 | GTAAAACA others(295): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp1 others(92): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0004others(18): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(33): Show | a0001c0001t0001g0123a0001c0001t0001g0132a0001c0001t0001g0133others(92): Show | 95 | 328 | 0.2896 | -302 | c.62- others(15): Show |
RIPOR2 | ENSG00000111913.20 | transcript | ENST00000643898.2 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| RRP12_chr10_97351701_97406340 | 97398051 | TTTTTTTT others(295): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01978.hp1 HG02027.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0007a0002c0022others(2): Show | a0001c0004t0001a0001c0007t0001a0002c0022t0001others(2): Show | a0001c0004t0001g0027a0001c0004t0001g0029a0001c0007t0001g0220others(10): Show | 13 | 400 | 0.0325 | -302 | c.369 others(17): Show |
RRP12 | ENSG00000052749.14 | transcript | ENST00000370992.9 | protein_coding | 2/33 | chr10 | TogoVar | ||||||
| SCNN1D_chr1_1275436_1297025 | 1288791 | TCCCCCGT others(295): Show |
T | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 290 | 0.0035 | -302 | c.166 others(18): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SEMA3G_chr3_52428035_52450103 | 52434598 | GCATCCCT others(295): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0044 | 1 | 310 | 0.0032 | -302 | c.*70 others(10): Show |
SEMA3G | ENSG00000010319.7 | transcript | ENST00000231721.7 | protein_coding | 16/16 | 703 | chr3 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2280570 | TGAGAAGA others(295): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0307 | 1 | 330 | 0.0030 | -302 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SKI_chr1_2223319_2315213 | 2280653 | ACCCGAGA others(295): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01981.hp1 NA18945.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0025 | a0001c0001t0001g0254a0001c0001t0008g0193a0001c0001t0008g0202others(2): Show | 5 | 330 | 0.0152 | -302 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SLC19A1_chr21_45507565_45547440 | 45524336 | CCCCCGGG others(295): Show |
C | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 318 | 0.0031 | -302 | c.129 others(19): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 5/5 | chr21 | TogoVar | ||||||
| SLC9A3_chr5_465456_529449 | 486992 | GCACTGAC others(295): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01517.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0009 | a0001c0003t0008g0038a0001c0003t0008g0039a0001c0003t0009g0007 | 3 | 218 | 0.0138 | -302 | c.675 others(17): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
| ZFYVE28_chr4_2264597_2423645 | 2396453 | GGCCATCC others(295): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0016 | a0016c0025 | a0016c0025t0013 | a0016c0025t0013g0148 | 1 | 290 | 0.0035 | -302 | c.39+ others(17): Show |
ZFYVE28 | ENSG00000159733.14 | transcript | ENST00000290974.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
| ABCG1_chr21_42214140_42302244 | 42283800 | ACCCCCCC others(294): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0058 | 1 | 354 | 0.0028 | -301 | c.735 others(15): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
| ABCG1_chr21_42214140_42302244 | 42283837 | TCCCCCCG others(294): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0090a0001c0001t0003g0002a0001c0001t0004g0329others(1): Show | 5 | 354 | 0.0141 | -301 | c.735 others(15): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
| AGO2_chr8_140515156_140640633 | 140623026 | TGGGGGAA others(294): Show |
T | intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0223 | 1 | 338 | 0.0030 | -301 | c.22+ others(17): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83002925 | CGCGTGTG others(294): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0017 | 1 | 266 | 0.0038 | -301 | c.459 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| C9orf43_chr9_113405747_113434690 | 113406669 | TGATCATG others(294): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 310 | 0.0065 | -301 | c.-43 others(11): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 4077 | chr9 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138126644 | CCCCCGGC others(294): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00673.hp2 others(28): Show |
a0001a0002 | a0001c0002a0001c0007a0001c0012others(6): Show | a0001c0002t0001a0001c0002t0021a0001c0002t0030others(8): Show | a0001c0002t0001g0035a0001c0002t0001g0039a0001c0002t0001g0057others(28): Show | 31 | 248 | 0.1250 | -301 | c.*46 others(11): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 2026 | chr9 | TogoVar | ||||||
| CACNB4_chr2_151827771_152104044 | 151875638 | CCCTCCCG others(294): Show |
C | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0115 | 1 | 230 | 0.0044 | -301 | c.521 others(15): Show |
CACNB4 | ENSG00000182389.20 | transcript | ENST00000539935.7 | protein_coding | 5/13 | chr2 | TogoVar | ||||||
| CACNG7_chr19_53904278_53948950 | 53922207 | GTCTGGTA others(294): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 364 | 0.0028 | -301 | c.424 others(17): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
| CANT1_chr17_78986716_79014764 | 79004237 | AGAGGGGA others(294): Show |
A | intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216 | 1 | 394 | 0.0025 | -301 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| CDC34_chr19_526760_547087 | 540495 | GGCCCCCC others(294): Show |
G | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 328 | 0.0031 | -301 | c.498 others(15): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CLIP2_chr7_74284407_74410935 | 74369854 | CAAAAAAA others(294): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02738.hp1 NA20129.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0002t0005a0001c0007t0010 | a0001c0002t0001g0218a0001c0002t0005g0169a0001c0007t0010g0048 | 3 | 278 | 0.0108 | -301 | c.138 others(19): Show |
CLIP2 | ENSG00000106665.16 | transcript | ENST00000223398.11 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| COG1_chr17_73188055_73213507 | 73194160 | TGGCCGGG others(294): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01257.hp1 others(4): Show |
a0002a0004 | a0002c0001a0004c0007 | a0002c0001t0001a0004c0007t0001 | a0002c0001t0001g0019a0002c0001t0001g0117a0002c0001t0001g0118others(2): Show | 7 | 428 | 0.0164 | -301 | c.315 others(16): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
| DGKB_chr7_14140049_14907751 | 14211747 | TATTTACT others(294): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0007 | a0002c0007t0006 | a0002c0007t0006g0041 | 1 | 148 | 0.0068 | -301 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
| DHRS12_chr13_51762993_51809163 | 51774190 | GTACATGT others(294): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG02451.hp1 others(5): Show |
a0001a0007 | a0001c0001a0007c0006 | a0001c0001t0001a0007c0006t0004 | a0001c0001t0001g0035a0001c0001t0001g0146a0001c0001t0001g0147others(4): Show | 8 | 420 | 0.0191 | -301 | c.364 others(15): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar |