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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSTF3_chr11_33079584_33166480 | 33163903 | ATATATAT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG02155.hp2 NA18939.hp2 NA18987.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047 a0001c0001t0003g0115 a0001c0001t0003g0117 others(2): Show |
5 | 336 | 0.0149 | -39 | c.-26 others(50): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 2424 | chr11 | TogoVar | |||||||
CTNNA2_chr2_79508051_80653780 | 79850286 | TCCTCCCT others(32): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0001t0001g0001 a0001c0004t0001g0006 a0001c0004t0001g0021 others(4): Show |
7 | 68 | 0.1029 | -39 | c.299 others(56): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CUX1_chr7_101811007_102288958 | 101939053 | AAATACAT others(32): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0010a0001c0002t0001a0002c0003t0001 | a0001c0001t0010g0131 a0001c0002t0001g0001 a0002c0003t0001g0003 others(1): Show |
4 | 129 | 0.0310 | -39 | c.174 others(58): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CUX1_chr7_101812626_102263233 | 101939053 | AAATACAT others(32): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03130.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0019a0001c0003t0004 | a0001c0001t0011g0003 a0001c0001t0011g0004 a0001c0001t0019g0001 others(1): Show |
4 | 133 | 0.0301 | -39 | c.141 others(58): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CYBRD1_chr2_171517474_171563129 | 171558384 | TCATATAT others(32): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02280.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0004a0001c0001t0006a0001c0001t0013others(3): Show | a0001c0001t0004g0249 a0001c0001t0006g0010 a0001c0001t0006g0023 others(18): Show |
25 | 260 | 0.0962 | -39 | c.*35 others(50): Show |
CYBRD1 | ENSG00000071967.12 | transcript | ENST00000321348.9 | protein_coding | 256 | chr2 | TogoVar | |||||||
CYLC2_chr9_102990333_103023488 | 103009906 | TACATATA others(32): Show |
T | intron_variant | MODIFIER | HG02647.hp1 | a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0108 | 1 | 446 | 0.0022 | -39 | c.*70 others(58): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYLC2_chr9_102990333_103023488 | 103013322 | TATATATA others(32): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02976.hp1 HG03098.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0034a0003c0003t0043a0003c0003t0044 | a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 others(1): Show |
4 | 183 | 0.0219 | -39 | c.*81 others(58): Show |
CYLC2 | ENSG00000155833.15 | transcript | ENST00000374798.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CYP2W1_chr7_978181_994640 | 989952 | CGTGGTCG others(32): Show |
C | downstream_gene_variant | MODIFIER | HG02683.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 404 | 0.0050 | -39 | c.*11 others(50): Show |
CYP2W1 | ENSG00000073067.14 | transcript | ENST00000308919.12 | protein_coding | 313 | chr7 | TogoVar | |||||||
CYP3A43_chr7_99823013_99871093 | 99867232 | AAAGCAAC others(32): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 324 | 0.0031 | -39 | c.*12 others(50): Show |
CYP3A43 | ENSG00000021461.18 | transcript | ENST00000354829.7 | protein_coding | 1140 | chr7 | TogoVar | |||||||
CYP46A1_chr14_99679298_99732301 | 99697280 | CAGCTTCT others(32): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 a0001c0001t0001g0312 |
2 | 372 | 0.0054 | -39 | c.283 others(56): Show |
CYP46A1 | ENSG00000036530.9 | transcript | ENST00000261835.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241755684 | TGGGGTTG others(32): Show |
T | intron_variant | MODIFIER | NA19064.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0108 a0001c0001t0004g0111 |
2 | 410 | 0.0049 | -39 | c.114 others(56): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241755697 | ACACCTGG others(32): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG01346.hp2 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0011 a0001c0001t0002g0109 a0001c0001t0002g0113 others(12): Show |
16 | 410 | 0.0390 | -39 | c.114 others(56): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DACT2_chr6_168301904_168324777 | 168321862 | TCTCCTTC others(32): Show |
T | upstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0043 | 2 | 450 | 0.0044 | -39 | c.-22 others(50): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2086 | chr6 | TogoVar | |||||||
DCAF15_chr19_13947509_13966449 | 13949144 | GAGACAGC others(32): Show |
G | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 398 | 0.0025 | -39 | c.-33 others(50): Show |
DCAF15 | ENSG00000132017.11 | transcript | ENST00000254337.11 | protein_coding | 3364 | chr19 | TogoVar | |||||||
DCP1A_chr3_53278429_53352543 | 53331399 | ATAATACC others(32): Show |
A | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0286 | 1 | 364 | 0.0027 | -39 | c.304 others(58): Show |
DCP1A | ENSG00000272886.6 | transcript | ENST00000610213.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472534 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0231 | 1 | 314 | 0.0032 | -39 | c.296 others(56): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DCT_chr13_94431811_94484682 | 94472538 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 330 | 0.0030 | -39 | c.296 others(56): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
DECR2_chr16_396885_417482 | 398566 | ACTGAGCT others(32): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 366 | 0.0027 | -39 | c.-33 others(50): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 3318 | chr16 | TogoVar | |||||||
DEFA1_chr8_6972649_6985092 | 6974224 | TTTCTTTC others(32): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0045 | 1 | 407 | 0.0025 | -39 | c.*35 others(50): Show |
DEFA1 | ENSG00000206047.4 | transcript | ENST00000382692.3 | protein_coding | 3424 | chr8 | TogoVar | |||||||
DGAT1_chr8_144309584_144331852 | 144313749 | TCCCCGCC others(32): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0030 | 1 | 310 | 0.0032 | -39 | c.*27 others(50): Show |
DGAT1 | ENSG00000185000.12 | transcript | ENST00000528718.6 | protein_coding | 834 | chr8 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14567379 | ATATATTA others(32): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp1 HG02145.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0020a0001c0002t0003others(6): Show | a0001c0001t0003g0051 a0001c0001t0020g0097 a0001c0002t0003g0001 others(9): Show |
12 | 146 | 0.0822 | -39 | c.177 others(58): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 20/25 | chr7 | TogoVar | |||||||
DGKQ_chr4_953887_978569 | 972534 | TCCTGTCC others(32): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp2 others(6): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0007a0001c0005t0001 | a0001c0002t0007g0009 a0001c0005t0001g0063 |
9 | 423 | 0.0213 | -39 | c.271 others(54): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
DHRS11_chr17_36586879_36605804 | 36605141 | AAAAAAAA others(32): Show |
A | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 384 | 0.0026 | -39 | c.*49 others(50): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 4338 | chr17 | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12070609 | GTTCCGAG others(32): Show |
G | intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 372 | 0.0027 | -39 | c.154 others(56): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
DIO3_chr14_101556495_101568452 | 101567109 | AGCTTGAG others(32): Show |
A | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | -39 | c.*46 others(50): Show |
DIO3 | ENSG00000197406.8 | transcript | ENST00000510508.5 | protein_coding | 3658 | chr14 | TogoVar | |||||||
DIO3_chr14_101556495_101568452 | 101567592 | TGAGCTGG others(32): Show |
T | downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 384 | 0.0026 | -39 | c.*51 others(50): Show |
DIO3 | ENSG00000197406.8 | transcript | ENST00000510508.5 | protein_coding | 4141 | chr14 | TogoVar | |||||||
DIP2A_chr21_46453891_46575015 | 46495215 | TTCTCTTC others(32): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0011 | a0002c0011t0023 | a0002c0011t0023g0186 | 1 | 359 | 0.0028 | -39 | c.284 others(56): Show |
DIP2A | ENSG00000160305.18 | transcript | ENST00000417564.3 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
DIP2B_chr12_50499985_50753657 | 50579645 | ATATATAT others(32): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0006a0001c0006t0009 | a0001c0001t0006g0104 a0001c0006t0009g0191 a0001c0006t0009g0192 others(1): Show |
4 | 236 | 0.0169 | -39 | c.101 others(58): Show |
DIP2B | ENSG00000066084.13 | transcript | ENST00000301180.10 | protein_coding | 1/37 | chr12 | TogoVar | |||||||
DIS3_chr13_72747169_72786900 | 72786114 | CATAGATG others(32): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0003 | a0003c0003t0011 | a0003c0003t0011g0012 | 1 | 420 | 0.0024 | -39 | c.-43 others(50): Show |
DIS3 | ENSG00000083520.15 | transcript | ENST00000377767.9 | protein_coding | 4215 | chr13 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 83753819 | TATTTCAT others(32): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 13 | 0.0769 | -39 | c.182 others(60): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 18/27 | chr11 | TogoVar | |||||||
DLG2_chr11_83450173_85632344 | 85138779 | CCTGCCAT others(32): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 14 | 0.0714 | -39 | c.282 others(58): Show |
DLG2 | ENSG00000150672.19 | transcript | ENST00000376104.7 | protein_coding | 5/27 | chr11 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 747756 | GGGGGTCT others(32): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -39 | c.18+ others(54): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 939683 | AGGGGCTG others(32): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0007 | 1 | 36 | 0.0278 | -39 | c.73+ others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1074947 | ATCTCACC others(32): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA20300.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0002c0001t0005 | a0001c0002t0006g0011 a0002c0001t0005g0035 |
2 | 40 | 0.0500 | -39 | c.73+ others(58): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1338821 | CTAAGGGA others(32): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG01496.hp2 |
a0002a0003 | a0002c0001a0003c0005 | a0002c0001t0001a0003c0005t0004 | a0002c0001t0001g0018 a0003c0005t0004g0037 |
2 | 40 | 0.0500 | -39 | c.106 others(58): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1562750 | GGGGTGTC others(32): Show |
G | intron_variant | MODIFIER | HG01071.hp2 HG01361.hp1 HG01496.hp1 others(13): Show |
a0002a0004 | a0002c0001a0002c0004a0002c0006others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(11): Show | a0002c0001t0001g0018 a0002c0001t0002g0013 a0002c0001t0002g0032 others(13): Show |
16 | 39 | 0.4103 | -39 | c.123 others(58): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1700381 | GACGGGGC others(32): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01071.hp2 HG01496.hp1 others(18): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0009others(8): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(15): Show | a0001c0002t0001g0015 a0001c0002t0002g0022 a0001c0003t0001g0026 others(18): Show |
21 | 40 | 0.5250 | -39 | c.295 others(56): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLL4_chr15_40924340_40944073 | 40941196 | CCAGTGCC others(32): Show |
C | downstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 368 | 0.0027 | -39 | c.*31 others(50): Show |
DLL4 | ENSG00000128917.8 | transcript | ENST00000249749.7 | protein_coding | 2124 | chr15 | TogoVar | |||||||
DMPK_chr19_45764717_45787490 | 45770204 | CCAGCAGC others(32): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02896.hp1 HG02897.hp1 |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0005c0011t0001 | a0001c0001t0002g0091 a0005c0011t0001g0041 a0005c0011t0001g0042 |
3 | 8 | 0.3750 | -39 | c.*24 others(48): Show |
DMPK | ENSG00000104936.20 | transcript | ENST00000291270.9 | protein_coding | 15/15 | 245 | chr19 | TogoVar | ||||||
DNAAF11_chr8_132565416_132680545 | 132674082 | CAGGAGGA others(32): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0003 | 2 | 274 | 0.0073 | -39 | c.10+ others(54): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84141285 | GTTCACAG others(32): Show |
G | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0380 | 1 | 454 | 0.0022 | -39 | c.-41 others(50): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 4022 | chr16 | TogoVar | |||||||
DNAH11_chr7_21538039_21906839 | 21789769 | CTTTCTTT others(32): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0122 | a0122c0256 | a0122c0256t0007 | a0122c0256t0007g0221 | 1 | 296 | 0.0034 | -39 | c.100 others(58): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225078812 | CTCTCTCT others(32): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0030 | a0030c0020 | a0030c0020t0001 | a0030c0020t0001g0020 | 1 | 238 | 0.0042 | -39 | c.242 others(56): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694837 | TTTCCTTC others(32): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG03579.hp1 others(1): Show |
a0018a0047a0051 | a0018c0017a0047c0067a0051c0089 | a0018c0017t0001a0047c0067t0001a0051c0089t0001 | a0018c0017t0001g0009 a0018c0017t0001g0014 a0047c0067t0001g0038 others(1): Show |
4 | 168 | 0.0238 | -39 | c.487 others(56): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800689 | AAAAAAAT others(32): Show |
A | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 400 | 0.0025 | -39 | c.373 others(54): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800691 | AAAAATAT others(32): Show |
A | intron_variant | MODIFIER | HG02698.hp2 HG02895.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0097 |
3 | 370 | 0.0081 | -39 | c.373 others(54): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DNTTIP1_chr20_45786954_45816418 | 45800693 | AAATATAT others(32): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02027.hp1 HG02040.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 others(8): Show |
25 | 308 | 0.0812 | -39 | c.373 others(54): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOCK2_chr5_169632275_170088382 | 169972547 | AGATAGAT others(32): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01346.hp2 HG02647.hp2 |
a0001 | a0001c0002a0001c0003a0001c0016 | a0001c0002t0002a0001c0003t0003a0001c0016t0002 | a0001c0002t0002g0112 a0001c0003t0003g0018 a0001c0016t0002g0069 |
3 | 182 | 0.0165 | -39 | c.280 others(60): Show |
DOCK2 | ENSG00000134516.20 | transcript | ENST00000520908.7 | protein_coding | 27/51 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DOK1_chr2_74549720_74562551 | 74561088 | GAGAAGGA others(32): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 324 | 0.0062 | -39 | c.*39 others(50): Show |
DOK1 | ENSG00000115325.14 | transcript | ENST00000233668.10 | protein_coding | 3538 | chr2 | TogoVar | |||||||
DONSON_chr21_33572551_33593684 | 33577602 | CCTACACA others(32): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0226 | 1 | 421 | 0.0024 | -39 | c.*66 others(48): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 666 | chr21 | TogoVar |