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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS2_chr4_7187538_7747827 | 7363007 | TATCATCA others(66): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 NA18906.hp2 |
a0001a0003 | a0001c0003a0003c0012 | a0001c0003t0022a0003c0012t0036a0003c0012t0055 | a0001c0003t0022g0043 a0003c0012t0036g0010 a0003c0012t0055g0033 |
3 | 168 | 0.0179 | -73 | c.481 others(92): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49907554 | GGCCTGGC others(66): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp2 HG02293.hp1 others(26): Show |
a0001a0002a0010 | a0001c0002a0002c0003a0002c0007others(1): Show | a0001c0002t0001a0001c0002t0014a0002c0003t0002others(9): Show | a0001c0002t0001g0100 a0001c0002t0014g0095 a0002c0003t0002g0004 others(12): Show |
29 | 426 | 0.0681 | -73 | c.336 others(88): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 2/2 | chr20 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4613364 | GCCCCTCT others(66): Show |
G | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0384 | 1 | 408 | 0.0025 | -73 | c.995 others(90): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 9/11 | chr9 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63948870 | TATATATA others(66): Show |
T | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0019 | 1 | 170 | 0.0059 | -73 | c.68- others(90): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186984752 | CTCCCTCC others(66): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00609.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0159 a0001c0001t0001g0166 a0001c0001t0001g0170 others(43): Show |
46 | 362 | 0.1271 | -73 | c.-18 others(94): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ST6GAL1_chr3_186925526_187083553 | 186984772 | TTCCTTCC others(66): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG03516.hp2 |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0076 | a0001c0003t0017g0255 a0001c0003t0076g0056 |
2 | 362 | 0.0055 | -73 | c.-18 others(94): Show |
ST6GAL1 | ENSG00000073849.16 | transcript | ENST00000169298.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STARD13_chr13_33098137_33290755 | 33177797 | AAGGAAAG others(66): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02896.hp2 HG02922.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0004 | a0001c0001t0001g0146 a0001c0001t0004g0043 a0001c0004t0004g0145 |
3 | 302 | 0.0099 | -73 | c.170 others(92): Show |
STARD13 | ENSG00000133121.21 | transcript | ENST00000336934.10 | protein_coding | 1/13 | chr13 | TogoVar | |||||||
STK32B_chr4_5046480_5505989 | 5316563 | TATATATT others(66): Show |
T | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0151 | 1 | 170 | 0.0059 | -73 | c.261 others(92): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STK32B_chr4_5046480_5505989 | 5317055 | TATATGAT others(66): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 170 | 0.0059 | -73 | c.261 others(92): Show |
STK32B | ENSG00000152953.13 | transcript | ENST00000282908.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48564407 | CTTCTTCT others(66): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG03471.hp2 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0002a0001c0008t0004 | a0001c0003t0002g0210 a0001c0008t0004g0368 |
2 | 376 | 0.0053 | -73 | c.-47 others(92): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
STX2_chr12_130784600_130844250 | 130843387 | TATATATA others(66): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG02486.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0018 | a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 others(8): Show |
11 | 380 | 0.0290 | -73 | c.-43 others(84): Show |
STX2 | ENSG00000111450.15 | transcript | ENST00000392373.7 | protein_coding | 4138 | chr12 | TogoVar | |||||||
SYNPO2_chr4_118883854_119066247 | 118890546 | ATGTAGAA others(66): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01934.hp2 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0017others(6): Show | a0001c0001t0001a0001c0005t0002a0001c0005t0004others(11): Show | a0001c0001t0001g0270 a0001c0001t0001g0279 a0001c0001t0001g0281 others(24): Show |
27 | 310 | 0.0871 | -73 | c.105 others(90): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TAF4_chr20_61969798_62070881 | 62057960 | GGGGGGCC others(66): Show |
G | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 314 | 0.0032 | -73 | c.136 others(92): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
TAF4_chr20_61969798_62070881 | 62058180 | GGGGGGCC others(66): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0006a0003c0007others(3): Show | a0001c0001t0001a0002c0006t0001a0003c0007t0001others(3): Show | a0001c0001t0001g0132 a0001c0001t0001g0140 a0001c0001t0001g0141 others(17): Show |
20 | 314 | 0.0637 | -73 | c.136 others(92): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
TBC1D5_chr3_17152168_17747631 | 17401307 | CATATATA others(66): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 162 | 0.0062 | -73 | c.509 others(90): Show |
TBC1D5 | ENSG00000131374.15 | transcript | ENST00000696125.1 | protein_coding | 8/22 | chr3 | TogoVar | |||||||
TENM4_chr11_78647829_79446030 | 78883186 | TGTTTTTC others(66): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03516.hp2 |
a0001 | a0001c0011 | a0001c0011t0036a0001c0011t0047 | a0001c0011t0036g0045 a0001c0011t0047g0066 |
2 | 94 | 0.0213 | -73 | c.108 others(92): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 9/33 | chr11 | TogoVar | |||||||
TFCP2_chr12_51088656_51178135 | 51132298 | CTTTAACA others(66): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0297 a0001c0001t0007g0300 |
2 | 348 | 0.0058 | -73 | c.123 others(92): Show |
TFCP2 | ENSG00000135457.11 | transcript | ENST00000257915.10 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
THNSL2_chr2_88165346_88191627 | 88178881 | AACTGGTC others(66): Show |
A | frameshift_variant | HIGH | HG03209.hp1 | a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0041 | 1 | 54 | 0.0185 | -73 | c.673 others(80): Show |
p.Trp others(5): Show |
THNSL2 | ENSG00000144115.18 | transcript | ENST00000674334.2 | protein_coding | 5/9 | 796/2082 | 673/1455 | 225/484 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
TMCO3_chr13_113486021_113555229 | 113519615 | CTTGGTCA others(66): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(73): Show |
a0002a0011a0013 | a0002c0003a0002c0004a0002c0019others(2): Show | a0002c0003t0003a0002c0004t0004a0002c0004t0005others(5): Show | a0002c0003t0003g0005 a0002c0003t0003g0020 a0002c0003t0003g0021 others(69): Show |
76 | 368 | 0.2065 | -73 | c.122 others(90): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113519695 | ACACAGTG others(66): Show |
A | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0063 | 1 | 368 | 0.0027 | -73 | c.122 others(90): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
TMEM104_chr17_74771499_74844753 | 74839920 | TGGGGATA others(66): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 304 | 0.0033 | -73 | c.*32 others(84): Show |
TMEM104 | ENSG00000109066.14 | transcript | ENST00000335464.10 | protein_coding | 168 | chr17 | TogoVar | |||||||
TMEM132C_chr12_128262170_128712911 | 128596577 | TGCAGGTC others(66): Show |
T | intron_variant | MODIFIER | HG01243.hp1 NA19240.hp1 |
a0002a0004 | a0002c0004a0004c0007 | a0002c0004t0003a0004c0007t0002 | a0002c0004t0003g0052 a0004c0007t0002g0090 |
2 | 170 | 0.0118 | -73 | c.112 others(94): Show |
TMEM132C | ENSG00000181234.10 | transcript | ENST00000435159.3 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMPRSS4_chr11_118072078_118126890 | 118096894 | AGAAAGAA others(66): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 406 | 0.0025 | -73 | c.43+ others(88): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TNNI3_chr19_55146767_55162732 | 55147345 | CCTGGACT others(66): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(180): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(55): Show |
183 | 388 | 0.4717 | -73 | c.*44 others(84): Show |
TNNI3 | ENSG00000129991.13 | transcript | ENST00000344887.10 | protein_coding | 4421 | chr19 | TogoVar | |||||||
TNNI3_chr19_55146767_55162732 | 55155021 | GGGGCTGG others(66): Show |
G | intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 388 | 0.0026 | -73 | c.283 others(88): Show |
TNNI3 | ENSG00000129991.13 | transcript | ENST00000344887.10 | protein_coding | 5/7 | chr19 | TogoVar | |||||||
TNNT1_chr19_55127698_55154206 | 55147345 | CCTGGACT others(66): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(143): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0016 others(125): Show |
146 | 320 | 0.4563 | -73 | c.-11 others(88): Show |
TNNT1 | ENSG00000105048.18 | transcript | ENST00000588981.6 | protein_coding | 1/13 | chr19 | TogoVar | |||||||
TOX_chr8_58800412_59124147 | 59002184 | GGCTGGTT others(66): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00673.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0116 a0001c0001t0001g0118 others(17): Show |
20 | 224 | 0.0893 | -73 | c.103 others(92): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
TP73_chr1_3647516_3741201 | 3681854 | GTAACAGA others(66): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0097 a0001c0001t0001g0117 a0001c0001t0001g0125 others(47): Show |
50 | 358 | 0.1397 | -73 | c.-33 others(88): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TPO_chr2_1408463_1548673 | 1499572 | CGTCTGGG others(66): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02015.hp1 HG03239.hp2 others(2): Show |
a0006a0013 | a0006c0009a0006c0013a0013c0017 | a0006c0009t0003a0006c0009t0006a0006c0013t0007others(2): Show | a0006c0009t0003g0050 a0006c0009t0006g0084 a0006c0013t0007g0122 others(2): Show |
5 | 130 | 0.0385 | -73 | c.238 others(92): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TPR_chr1_186306652_186380253 | 186326996 | TAATATAT others(66): Show |
T | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 408 | 0.0025 | -73 | c.588 others(90): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TPR_chr1_186306652_186380253 | 186327174 | TATATATA others(66): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02717.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 5 | 408 | 0.0123 | -73 | c.588 others(90): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | |||||||
TRERF1_chr6_42219931_42456926 | 42262434 | CAGAGAGA others(66): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02895.hp2 HG03041.hp1 |
a0001a0002 | a0001c0001a0001c0004a0002c0006 | a0001c0001t0004a0001c0004t0014a0002c0006t0005 | a0001c0001t0004g0167 a0001c0004t0014g0063 a0002c0006t0005g0024 |
3 | 180 | 0.0167 | -73 | c.188 others(90): Show |
TRERF1 | ENSG00000124496.13 | transcript | ENST00000695948.1 | protein_coding | 8/17 | chr6 | TogoVar | |||||||
TRHDE_chr12_72267370_72675758 | 72672940 | ACTCTTGA others(66): Show |
A | downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0152 | 1 | 158 | 0.0063 | -73 | c.*97 others(84): Show |
TRHDE | ENSG00000072657.10 | transcript | ENST00000261180.10 | protein_coding | 2183 | chr12 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152383 | TTGAGAAG others(66): Show |
T | downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 228 | 0.0044 | -73 | c.*50 others(84): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4641 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152504 | GTGAGAAG others(66): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 NA18973.hp1 NA18975.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0002 | a0001c0001t0001g0056 a0001c0001t0001g0079 a0003c0005t0002g0106 |
3 | 228 | 0.0132 | -73 | c.*51 others(84): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4762 | chr4 | TogoVar | |||||||
TRIML1_chr4_188134441_188152743 | 188152670 | GGGTTGAG others(66): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0160 | 1 | 228 | 0.0044 | -73 | c.*52 others(84): Show |
TRIML1 | ENSG00000184108.8 | transcript | ENST00000332517.4 | protein_coding | 4928 | chr4 | TogoVar | |||||||
TRUB1_chr10_114933195_114982676 | 114935166 | TGCTAAAC others(66): Show |
T | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0005 | 1 | 238 | 0.0042 | -73 | c.-30 others(84): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 3028 | chr10 | TogoVar | |||||||
TRUB1_chr10_114933195_114982676 | 114935618 | CGAGGGGT others(66): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp2 HG02109.hp2 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0020a0001c0008t0004a0002c0002t0011 | a0001c0001t0020g0005 a0001c0008t0004g0058 a0002c0002t0011g0024 others(1): Show |
5 | 238 | 0.0210 | -73 | c.-26 others(84): Show |
TRUB1 | ENSG00000165832.6 | transcript | ENST00000298746.5 | protein_coding | 2576 | chr10 | TogoVar | |||||||
TSPAN18_chr11_44721962_44937423 | 44725811 | GAGCCTAC others(66): Show |
G | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01192.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0009a0001c0001t0010a0001c0001t0013others(3): Show | a0001c0001t0009g0056 a0001c0001t0010g0057 a0001c0001t0010g0058 others(9): Show |
12 | 290 | 0.0414 | -73 | c.-17 others(84): Show |
TSPAN18 | ENSG00000157570.12 | transcript | ENST00000520358.7 | protein_coding | 1150 | chr11 | TogoVar | |||||||
TXK_chr4_48061393_48139250 | 48104284 | TATATAAT others(66): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 a0001c0001t0004g0194 a0001c0001t0004g0257 |
3 | 362 | 0.0083 | -73 | c.501 others(88): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 6/14 | chr4 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 666974 | GAGATGGA others(66): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 482 | 0.0021 | -73 | c.455 others(90): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 666992 | GTGATGGA others(66): Show |
G | intron_variant | MODIFIER | NA18970.hp1 NA18972.hp2 NA18981.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0017 a0001c0001t0001g0096 a0001c0001t0001g0144 others(4): Show |
8 | 482 | 0.0166 | -73 | c.455 others(90): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667544 | TGGTGATG others(66): Show |
T | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0407 | 1 | 482 | 0.0021 | -73 | c.455 others(90): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UBE4B_chr1_10027958_10186239 | 10101422 | ATGATTTT others(66): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0105 | 1 | 222 | 0.0045 | -73 | c.435 others(88): Show |
UBE4B | ENSG00000130939.20 | transcript | ENST00000343090.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917125 | CGGAGGCT others(66): Show |
C | intron_variant | MODIFIER | NA18947.hp2 NA18982.hp1 NA18983.hp2 |
a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0003 | 3 | 344 | 0.0087 | -73 | c.218 others(89): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UNC93A_chr6_167286315_167321014 | 167295411 | TCCTCGCC others(66): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG03486.hp2 |
a0006 | a0006c0016 | a0006c0016t0005 | a0006c0016t0005g0025 | 2 | 448 | 0.0045 | -73 | c.270 others(88): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
UNKL_chr16_1358205_1419704 | 1367496 | CCCTCCCT others(66): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02622.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0017a0001c0003t0068 | a0001c0003t0017g0298 a0001c0003t0017g0299 a0001c0003t0017g0301 others(1): Show |
4 | 322 | 0.0124 | -73 | c.178 others(89): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 13/14 | chr16 | TogoVar | |||||||
VAV1_chr19_6767708_6862361 | 6857491 | ACAATCCA others(66): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG02071.hp2 others(29): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0099 others(29): Show |
32 | 306 | 0.1046 | -73 | c.*38 others(82): Show |
VAV1 | ENSG00000141968.8 | transcript | ENST00000602142.6 | protein_coding | 131 | chr19 | TogoVar | |||||||
VPS53_chr17_503668_719839 | 595227 | GTTTGATG others(66): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 |
a0001 | a0001c0014a0001c0015 | a0001c0014t0135a0001c0015t0126 | a0001c0014t0135g0166 a0001c0015t0126g0149 |
2 | 232 | 0.0086 | -73 | c.121 others(92): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 12/21 | chr17 | TogoVar | |||||||
WFDC2_chr20_45464753_45486532 | 45472532 | GGTTGGTT others(66): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(14): Show |
103 | 416 | 0.2476 | -73 | c.223 others(90): Show |
WFDC2 | ENSG00000101443.18 | transcript | ENST00000372676.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |