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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTDP1_chr18_79674803_79759503 | 79691505 | TGGGGAGG others(31): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03453.hp2 |
a0001 | a0001c0014a0001c0037 | a0001c0014t0001a0001c0037t0001 | a0001c0014t0001g0083 a0001c0037t0001g0082 |
2 | 376 | 0.0053 | -38 | c.315 others(55): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691875 | CGGGGTGG others(31): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG03195.hp1 |
a0002a0011 | a0002c0002a0011c0032 | a0002c0002t0001a0011c0032t0001 | a0002c0002t0001g0324 a0011c0032t0001g0088 |
2 | 376 | 0.0053 | -38 | c.315 others(55): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79693877 | ACAGACCC others(31): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
a0005 | a0005c0011a0005c0015 | a0005c0011t0005a0005c0015t0005 | a0005c0011t0005g0360 a0005c0011t0005g0361 a0005c0011t0005g0363 others(2): Show |
5 | 376 | 0.0133 | -38 | c.315 others(55): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79700232 | TTTAAATC others(31): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0202 | 1 | 376 | 0.0027 | -38 | c.621 others(55): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79726994 | GTTGCTGG others(31): Show |
G | intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0024 | a0005c0024t0001 | a0005c0024t0001g0364 | 1 | 371 | 0.0027 | -38 | c.241 others(57): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTNNA2_chr2_79508051_80653780 | 79508955 | GTATATAT others(31): Show |
G | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 6 | 0.1667 | -38 | c.-42 others(49): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 4095 | chr2 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66346228 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG03579.hp1 NA19080.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0013 | a0002c0002t0002g0013 a0002c0002t0013g0026 |
2 | 46 | 0.0435 | -38 | c.173 others(59): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 10994373 | GGGGCCGG others(31): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0023 a0001c0007t0001g0002 |
2 | 24 | 0.0833 | -38 | c.308 others(57): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 18/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11817410 | GGAGAGAG others(31): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 7 | 0.1429 | -38 | c.38- others(55): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150744513 | TTATATGT others(31): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 338 | 0.0030 | -38 | c.896 others(55): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150761329 | GGAAAACA others(31): Show |
G | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 342 | 0.0029 | -38 | c.126 others(55): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
CUX1_chr7_101811007_102288958 | 101939058 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG03195.hp2 HG03486.hp1 NA18906.hp2 |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0001a0003c0012t0005 | a0001c0002t0001g0075 a0001c0002t0001g0087 a0003c0012t0005g0082 |
3 | 14 | 0.2143 | -38 | c.174 others(57): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000622516.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CUX1_chr7_101812626_102263233 | 101939058 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG03486.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0020 | a0001c0001t0003g0048 a0001c0001t0010g0053 a0001c0001t0020g0040 |
3 | 14 | 0.2143 | -38 | c.141 others(57): Show |
CUX1 | ENSG00000257923.12 | transcript | ENST00000292535.12 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111330686 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01884.hp2 HG02055.hp1 others(4): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(2): Show | a0001c0002t0001g0065 a0001c0003t0001g0014 a0001c0003t0001g0087 others(4): Show |
7 | 33 | 0.2121 | -38 | c.292 others(57): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CWF19L1_chr10_100227298_100272638 | 100271843 | AAAGTGAA others(31): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0277 | 1 | 361 | 0.0028 | -38 | c.-42 others(49): Show |
CWF19L1 | ENSG00000095485.18 | transcript | ENST00000354105.10 | protein_coding | 4206 | chr10 | TogoVar | |||||||
CWF19L2_chr11_107321360_107462825 | 107460485 | TTATATAT others(31): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01891.hp1 HG02165.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0003 | a0001c0001t0001a0001c0001t0006a0001c0011t0001others(1): Show | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0237 others(9): Show |
12 | 24 | 0.5000 | -38 | c.-27 others(49): Show |
CWF19L2 | ENSG00000152404.16 | transcript | ENST00000282251.10 | protein_coding | 2661 | chr11 | TogoVar | |||||||
CYLD_chr16_50737086_50806935 | 50755006 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0008 a0001c0003t0005g0241 a0001c0003t0005g0242 others(2): Show |
7 | 300 | 0.0233 | -38 | c.913 others(53): Show |
CYLD | ENSG00000083799.18 | transcript | ENST00000427738.8 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CYP2A13_chr19_41083451_41101195 | 41089804 | GTCTCTCT others(31): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0009 | a0009c0021 | a0009c0021t0002 | a0009c0021t0002g0077 | 1 | 26 | 0.0385 | -38 | c.344 others(53): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYP2A13_chr19_41083451_41101195 | 41089837 | TCTCTCTC others(31): Show |
T | intron_variant | MODIFIER | HG01891.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0066 | 1 | 420 | 0.0024 | -38 | c.344 others(53): Show |
CYP2A13 | ENSG00000197838.5 | transcript | ENST00000330436.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CYP2A7_chr19_40870439_40887231 | 40880763 | CAGGACAG others(31): Show |
C | intron_variant | MODIFIER | HG03579.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0001 |
2 | 167 | 0.0120 | -38 | c.344 others(53): Show |
CYP2A7 | ENSG00000198077.11 | transcript | ENST00000301146.9 | protein_coding | 2/8 | chr19 | TogoVar | |||||||
CYP39A1_chr6_46544580_46657818 | 46564090 | TTTTATTT others(31): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02280.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0069 others(23): Show |
26 | 302 | 0.0861 | -38 | c.125 others(59): Show |
CYP39A1 | ENSG00000146233.8 | transcript | ENST00000275016.3 | protein_coding | 10/11 | chr6 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71552766 | CATATATA others(31): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 1 | 88 | 0.0114 | -38 | c.157 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71552810 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0084 | 1 | 100 | 0.0100 | -38 | c.157 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71552814 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 99 | 0.0101 | -38 | c.157 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71552816 | TATATATA others(31): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 99 | 0.0101 | -38 | c.157 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71735273 | CGTATGTA others(31): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02486.hp1 others(1): Show |
a0001a0002a0003 | a0001c0005a0002c0002a0003c0003 | a0001c0005t0002a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0005t0002g0043 a0002c0002t0001g0072 a0002c0002t0002g0073 others(1): Show |
4 | 61 | 0.0656 | -38 | c.849 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DACH1_chr13_71432966_71872204 | 71816639 | TATGTGTG others(31): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 1 | 100 | 0.0100 | -38 | c.848 others(57): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
DACT3_chr19_46642551_46666182 | 46647663 | CTGGCCCC others(31): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0097 | 1 | 458 | 0.0022 | -38 | c.*78 others(47): Show |
DACT3 | ENSG00000197380.11 | transcript | ENST00000391916.7 | protein_coding | 4/4 | 781 | chr19 | TogoVar | ||||||
DAG1_chr3_49465267_49540615 | 49500053 | TAGCCTCC others(31): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(180): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0001g0006 a0001c0001t0001g0044 a0001c0001t0001g0045 others(176): Show |
183 | 236 | 0.7754 | -38 | c.-11 others(59): Show |
DAG1 | ENSG00000173402.13 | transcript | ENST00000308775.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DAPL1_chr2_158790317_158820990 | 158791953 | TTCTTTCT others(31): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 356 | 0.0028 | -38 | c.-34 others(49): Show |
DAPL1 | ENSG00000163331.12 | transcript | ENST00000309950.8 | protein_coding | 3363 | chr2 | TogoVar | |||||||
DCAF7_chr17_63545477_63599266 | 63559387 | GTATATAT others(31): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0011others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0208 a0001c0001t0006g0210 others(5): Show |
9 | 236 | 0.0381 | -38 | c.138 others(55): Show |
DCAF7 | ENSG00000136485.16 | transcript | ENST00000614556.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53047274 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01106.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0003a0001c0002t0034a0001c0003t0004others(5): Show | a0001c0002t0003g0059 a0001c0002t0034g0091 a0001c0003t0004g0052 others(6): Show |
9 | 114 | 0.0789 | -38 | c.986 others(57): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCC_chr18_52335197_53540899 | 53047457 | ATATATAC others(31): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA18982.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0004 | a0001c0002t0008g0039 a0001c0003t0004g0061 |
2 | 114 | 0.0175 | -38 | c.986 others(57): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DCDC1_chr11_30858603_31374739 | 30888125 | AGAAAGAA others(31): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0101 | 1 | 150 | 0.0067 | -38 | c.508 others(57): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 36/38 | chr11 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 36074468 | CAAAAAAA others(31): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(60): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(35): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0089 others(60): Show |
63 | 92 | 0.6848 | -38 | c.723 others(57): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DCTN5_chr16_23636466_23682472 | 23645107 | ATATATAT others(31): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0142 | 1 | 312 | 0.0032 | -38 | c.117 others(55): Show |
DCTN5 | ENSG00000166847.10 | transcript | ENST00000300087.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DCT_chr13_94431811_94484682 | 94465968 | TTATATAT others(31): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 37 | 0.0270 | -38 | c.697 others(53): Show |
DCT | ENSG00000080166.16 | transcript | ENST00000377028.10 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
DDB1_chr11_61294451_61338105 | 61330969 | CATAACTG others(31): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 178 | 0.0056 | -38 | c.210 others(53): Show |
DDB1 | ENSG00000167986.15 | transcript | ENST00000301764.12 | protein_coding | 2/26 | chr11 | TogoVar | |||||||
DDX28_chr16_68015916_68028232 | 68020793 | ATATATAC others(31): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp2 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0000 | 5 | 388 | 0.0129 | -38 | c.*74 others(47): Show |
DDX28 | ENSG00000182810.7 | transcript | ENST00000332395.7 | protein_coding | 122 | chr16 | TogoVar | |||||||
DDX31_chr9_132587997_132674983 | 132671384 | CTGTGTGT others(31): Show |
C | upstream_gene_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 400 | 0.0025 | -38 | c.-14 others(49): Show |
DDX31 | ENSG00000125485.18 | transcript | ENST00000372159.8 | protein_coding | 1402 | chr9 | TogoVar | |||||||
DDX51_chr12_132131594_132149319 | 132135378 | TACCTCCC others(31): Show |
T | downstream_gene_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0084 | 1 | 308 | 0.0032 | -38 | c.*38 others(49): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 1215 | chr12 | TogoVar | |||||||
DDX60_chr4_168211294_168323752 | 168297344 | AAGAAAGA others(31): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02698.hp1 HG02717.hp2 others(2): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0011 | a0001c0001t0001a0004c0005t0001a0005c0011t0001 | a0001c0001t0001g0229 a0001c0001t0001g0230 a0004c0005t0001g0133 others(2): Show |
5 | 268 | 0.0187 | -38 | c.724 others(55): Show |
DDX60 | ENSG00000137628.18 | transcript | ENST00000393743.8 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
DEFB123_chr20_31435632_31455257 | 31450544 | ATATATAT others(31): Show |
A | downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 370 | 0.0027 | -38 | c.*37 others(47): Show |
DEFB123 | ENSG00000180424.7 | transcript | ENST00000376309.4 | protein_coding | 288 | chr20 | TogoVar | |||||||
DENND6B_chr22_50304030_50332012 | 50317007 | GGGGCGGC others(31): Show |
G | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 324 | 0.0031 | -38 | c.453 others(53): Show |
DENND6B | ENSG00000205593.12 | transcript | ENST00000413817.8 | protein_coding | 5/19 | chr22 | TogoVar | |||||||
DET1_chr15_88507480_88551681 | 88526498 | ATTTAGGG others(31): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0200 a0001c0001t0001g0221 a0001c0001t0001g0222 others(4): Show |
7 | 400 | 0.0175 | -38 | c.127 others(57): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 3/4 | chr15 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14719439 | AGAAGCCA others(31): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00558.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0034 others(65): Show |
68 | 146 | 0.4658 | -38 | c.323 others(53): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 5/25 | chr7 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774399 | ATGTATTC others(31): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 418 | 0.0024 | -38 | c.364 others(53): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775072 | AGTATTCT others(31): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 417 | 0.0024 | -38 | c.364 others(55): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51776041 | AGTATTCT others(31): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0250 | 1 | 418 | 0.0024 | -38 | c.363 others(54): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51776145 | TTCTCCTA others(31): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 418 | 0.0024 | -38 | c.363 others(53): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar |