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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRBD1_chr2_45383680_45616267 | 45586983 | AAATTATT others(60): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp1 HG01169.hp1 others(17): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0054a0001c0001t0001g0074a0001c0001t0001g0075others(17): Show | 20 | 358 | 0.0559 | -67 | c.649 others(84): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 4/20 | chr2 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206372958 | TTCTTTCC others(60): Show |
T | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0107 | 1 | 182 | 0.0055 | -67 | c.424 others(86): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SSTR5_chr16_1067747_1086454 | 1076127 | TCCTCCCC others(60): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(166): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0012others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(79): Show | 169 | 350 | 0.4829 | -67 | c.-27 others(84): Show |
SSTR5 | ENSG00000162009.10 | transcript | ENST00000689027.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SSTR5_chr16_1067747_1086454 | 1076143 | ATCCCTCT others(60): Show |
A | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 350 | 0.0029 | -67 | c.-27 others(84): Show |
SSTR5 | ENSG00000162009.10 | transcript | ENST00000689027.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
STX12_chr1_27768219_27829443 | 27798613 | CCAGCCGG others(60): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02886.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0063a0001c0001t0007g0064a0001c0001t0007g0065others(1): Show | 4 | 228 | 0.0175 | -67 | c.289 others(84): Show |
STX12 | ENSG00000117758.14 | transcript | ENST00000373943.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 63860204 | ACCATTGC others(60): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0013a0014a0025others(1): Show | a0013c0031a0013c0032a0014c0014others(2): Show | a0013c0031t0004a0013c0032t0001a0014c0014t0001others(2): Show | a0013c0031t0004g0102a0013c0032t0001g0103a0014c0014t0001g0098others(3): Show | 6 | 150 | 0.0400 | -67 | c.-52 others(84): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | chr14 | TogoVar | ||||||
TAB3_chrX_30822442_30894254 | 30868500 | ATATATAT others(60): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG02145.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0003g0289a0001c0001t0004g0027a0001c0001t0005g0215others(2): Show | 5 | 302 | 0.0166 | -67 | c.-27 others(85): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | ||||||
TAB3_chrX_30822442_30894254 | 30868515 | GCTTATAT others(60): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0290 | 1 | 302 | 0.0033 | -67 | c.-27 others(85): Show |
TAB3 | ENSG00000157625.16 | transcript | ENST00000288422.4 | protein_coding | 2/10 | chrX | TogoVar | ||||||
TANC2_chr17_62961235_63432703 | 63086768 | CATTAGTG others(60): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01358.hp1 HG02486.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0008a0001c0001t0015a0001c0001t0017others(4): Show | a0001c0001t0008g0217a0001c0001t0008g0222a0001c0001t0008g0225others(8): Show | 11 | 266 | 0.0414 | -67 | c.140 others(86): Show |
TANC2 | ENSG00000170921.16 | transcript | ENST00000689528.1 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
TCF3_chr19_1604292_1657615 | 1629039 | CGGGGTGA others(60): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02735.hp1 HG03927.hp1 |
a0001a0002a0003 | a0001c0007a0002c0001a0003c0008 | a0001c0007t0103a0002c0001t0100a0003c0008t0001 | a0001c0007t0103g0351a0002c0001t0100g0342a0003c0008t0001g0118 | 3 | 352 | 0.0085 | -67 | c.299 others(84): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TCHH_chr1_152101317_152120444 | 152111959 | TCAGCTGC others(60): Show |
T | frameshift_variant | HIGH | HG00438.hp1 HG02056.hp2 HG02080.hp1 others(1): Show |
a0027 | a0027c0024 | a0027c0024t0004 | a0027c0024t0004g0021 | 4 | 402 | 0.0100 | -67 | c.119 others(76): Show |
p.Glu others(5): Show |
TCHH | ENSG00000159450.13 | transcript | ENST00000614923.2 | protein_coding | 3/3 | 1342/6985 | 1191/5832 | 397/1943 | chr1 | TogoVar | ||
THAP9_chr4_82895735_82924969 | 82924052 | CTGAGGTC others(60): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 HG02896.hp1 HG02897.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0023a0003c0003t0002g0028a0003c0003t0002g0036others(2): Show | 9 | 388 | 0.0232 | -67 | c.*51 others(78): Show |
THAP9 | ENSG00000168152.13 | transcript | ENST00000302236.10 | protein_coding | 4084 | chr4 | TogoVar | ||||||
TMCO3_chr13_113486021_113555229 | 113506179 | AGGAGCCT others(60): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0331 | 1 | 368 | 0.0027 | -67 | c.103 others(86): Show |
TMCO3 | ENSG00000150403.18 | transcript | ENST00000434316.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TMEM249_chr8_144348228_144359931 | 144349572 | TTCAGGAG others(60): Show |
T | downstream_gene_variant | MODIFIER | HG01891.hp1 HG03688.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0007a0001c0008t0001g0021 | 2 | 376 | 0.0053 | -67 | c.*37 others(78): Show |
TMEM249 | ENSG00000261587.3 | transcript | ENST00000696146.1 | protein_coding | 3655 | chr8 | TogoVar | ||||||
TMEM249_chr8_144348228_144359931 | 144349641 | CAGGAGGC others(60): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(151): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0011others(3): Show | 154 | 376 | 0.4096 | -67 | c.*36 others(78): Show |
TMEM249 | ENSG00000261587.3 | transcript | ENST00000696146.1 | protein_coding | 3586 | chr8 | TogoVar | ||||||
TMEM256_chr17_7397975_7409097 | 7407031 | TCTTGGTG others(60): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 398 | 0.0025 | -67 | c.-30 others(78): Show |
TMEM256 | ENSG00000205544.4 | transcript | ENST00000302422.4 | protein_coding | 2935 | chr17 | TogoVar | ||||||
TMEM45B_chr11_129810848_129865003 | 129831465 | ATGGCATG others(60): Show |
A | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 404 | 0.0025 | -67 | c.-9+ others(84): Show |
TMEM45B | ENSG00000151715.8 | transcript | ENST00000281441.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77235562 | GGGAGGGA others(60): Show |
G | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083 | 1 | 322 | 0.0031 | -67 | c.543 others(83): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 8/23 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
TMEM63C_chr14_77176798_77264495 | 77263549 | TTAGGTGA others(60): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0261 | 1 | 322 | 0.0031 | -67 | c.*68 others(78): Show |
TMEM63C | ENSG00000165548.11 | transcript | ENST00000298351.5 | protein_coding | 4055 | chr14 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41474763 | GGTGAGGG others(60): Show |
G | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 382 | 0.0026 | -67 | c.728 others(84): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TNS3_chr7_47270154_47587111 | 47536266 | TGCAATAA others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(57): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(46): Show | a0001c0001t0002g0141a0001c0001t0002g0142a0001c0001t0003g0140others(57): Show | 60 | 196 | 0.3061 | -67 | c.-26 others(86): Show |
TNS3 | ENSG00000136205.18 | transcript | ENST00000311160.14 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
TPCN2_chr11_69043932_69095597 | 69076721 | TCCTGCTG others(60): Show |
T | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02572.hp2 others(9): Show |
a0004a0014 | a0004c0006a0014c0038 | a0004c0006t0009a0004c0006t0037a0014c0038t0009 | a0004c0006t0009g0016a0004c0006t0009g0190a0004c0006t0009g0192others(7): Show | 12 | 404 | 0.0297 | -67 | c.123 others(86): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1440885 | GTGCCGCA others(60): Show |
G | intron_variant | MODIFIER | NA21309.hp1 | a0019 | a0019c0024 | a0019c0024t0005 | a0019c0024t0005g0009 | 1 | 130 | 0.0077 | -67 | c.482 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1443440 | TCCTTCTT others(60): Show |
T | intron_variant | MODIFIER | NA18998.hp1 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0071 | 1 | 130 | 0.0077 | -67 | c.482 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1443733 | TTGCTGCG others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(94): Show |
a0000a0001a0002others(12): Show | a0000c0019a0001c0001a0001c0004others(22): Show | a0000c0019t0004a0001c0001t0001a0001c0001t0002others(43): Show | a0000c0019t0004g0007a0001c0001t0001g0022a0001c0001t0001g0030others(94): Show | 97 | 130 | 0.7462 | -67 | c.482 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1444176 | TCCTTCTT others(60): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02015.hp1 HG03239.hp2 others(3): Show |
a0003a0006a0013 | a0003c0003a0006c0009a0006c0013others(1): Show | a0003c0003t0005a0006c0009t0003a0006c0009t0006others(3): Show | a0003c0003t0005g0066a0006c0009t0003g0050a0006c0009t0006g0084others(3): Show | 6 | 130 | 0.0462 | -67 | c.482 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1445726 | GTCATTGC others(60): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010 | a0001c0001t0007g0013a0001c0001t0010g0054 | 2 | 130 | 0.0154 | -67 | c.483 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPO_chr2_1408463_1548673 | 1445766 | TAGGCTCC others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(90): Show |
a0000a0001a0002others(11): Show | a0000c0019a0001c0001a0001c0004others(20): Show | a0000c0019t0004a0001c0001t0001a0001c0001t0002others(39): Show | a0000c0019t0004g0007a0001c0001t0001g0022a0001c0001t0001g0030others(90): Show | 93 | 130 | 0.7154 | -67 | c.483 others(84): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TPR_chr1_186306652_186380253 | 186327107 | AAATATAT others(60): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG02080.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0005 | a0001c0001t0001g0206a0001c0001t0001g0253a0001c0001t0001g0254others(6): Show | 9 | 408 | 0.0221 | -67 | c.588 others(84): Show |
TPR | ENSG00000047410.14 | transcript | ENST00000367478.9 | protein_coding | 40/50 | chr1 | TogoVar | ||||||
TPSD1_chr16_1251069_1264008 | 1254907 | TCCATGGG others(60): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(61): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0012others(4): Show | a0001c0001t0072a0002c0002t0002a0002c0002t0008others(22): Show | a0001c0001t0072g0001a0002c0002t0002g0002a0002c0002t0002g0012others(26): Show | 64 | 270 | 0.2370 | -67 | c.-13 others(78): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 1161 | chr16 | TogoVar | ||||||
TPTE_chr21_10516583_10610716 | 10589441 | CCTGAGTA others(60): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 209 | 0.0048 | -67 | c.102 others(85): Show |
TPTE | ENSG00000274391.5 | transcript | ENST00000618007.5 | protein_coding | 17/23 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3437807 | CCCCCCAT others(60): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01358.hp1 HG01358.hp2 others(2): Show |
a0001a0007 | a0001c0001a0007c0045 | a0001c0001t0001a0007c0045t0001 | a0001c0001t0001g0264a0001c0001t0001g0275a0001c0001t0001g0307others(2): Show | 5 | 344 | 0.0145 | -67 | c.141 others(86): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TRAPPC12_chr2_3374694_3484565 | 3438085 | TCACCCCA others(60): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0268 | 1 | 344 | 0.0029 | -67 | c.141 others(86): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TSC2_chr16_2042985_2094491 | 2091198 | GCGGGAGG others(60): Show |
G | downstream_gene_variant | MODIFIER | NA18997.hp2 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0192 | 1 | 318 | 0.0031 | -67 | c.*25 others(78): Show |
TSC2 | ENSG00000103197.19 | transcript | ENST00000219476.9 | protein_coding | 1708 | chr16 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291569 | CCGTGTCC others(60): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 284 | 0.0035 | -67 | c.121 others(84): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133291934 | TCCCTCCG others(60): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0003 | a0001c0001t0001g0110a0001c0007t0003g0050 | 2 | 284 | 0.0070 | -67 | c.121 others(84): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TUBGCP2_chr10_133273635_133313872 | 133292047 | GTGTCCCC others(60): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0019 | a0001c0019t0002 | a0001c0019t0002g0042 | 1 | 284 | 0.0035 | -67 | c.121 others(84): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
TULP4_chr6_158307465_158516828 | 158491405 | CTTTCTTT others(60): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0012 | a0012c0035 | a0012c0035t0003 | a0012c0035t0003g0063 | 1 | 268 | 0.0037 | -67 | c.163 others(86): Show |
TULP4 | ENSG00000130338.13 | transcript | ENST00000367097.8 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TWIST2_chr2_238843085_238915534 | 238870689 | ACACCACA others(60): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 | 1 | 338 | 0.0030 | -67 | c.*35 others(86): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TXK_chr4_48061393_48139250 | 48092553 | TGGACACA others(60): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp1 others(61): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0006a0001c0002t0001a0001c0008t0003others(5): Show | a0001c0001t0006g0247a0001c0002t0001g0014a0001c0002t0001g0090others(55): Show | 64 | 362 | 0.1768 | -67 | c.709 others(84): Show |
TXK | ENSG00000074966.11 | transcript | ENST00000264316.9 | protein_coding | 8/14 | chr4 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666920 | GAGATGGT others(60): Show |
G | intron_variant | MODIFIER | HG00741.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0123 | 2 | 482 | 0.0042 | -67 | c.455 others(84): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
TYMS_chr18_652653_678578 | 666974 | GAGATGGA others(60): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 | 1 | 482 | 0.0021 | -67 | c.455 others(84): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176871464 | CCAACACC others(60): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 268 | 0.0037 | -67 | c.886 others(82): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UNC5A_chr5_176805559_176885898 | 176871665 | CGCCCCAC others(60): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010 | a0001c0001t0005g0256a0001c0001t0008g0113a0001c0001t0010g0022 | 3 | 268 | 0.0112 | -67 | c.886 others(84): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
UNC5A_chr5_176805559_176885898 | 176871971 | CTCGCCCC others(60): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 268 | 0.0037 | -67 | c.886 others(84): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 6/14 | chr5 | TogoVar | ||||||
USP40_chr2_233470526_233571782 | 233567216 | TGATCTTA others(60): Show |
T | upstream_gene_variant | MODIFIER | NA18946.hp1 NA18977.hp2 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136a0001c0001t0001g0258a0001c0001t0001g0259 | 3 | 324 | 0.0093 | -67 | c.-61 others(76): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 435 | chr2 | TogoVar | ||||||
USP40_chr2_233470526_233571782 | 233567355 | TATAACCT others(60): Show |
T | upstream_gene_variant | MODIFIER | NA18906.hp1 | a0008 | a0008c0011 | a0008c0011t0013 | a0008c0011t0013g0288 | 1 | 324 | 0.0031 | -67 | c.-75 others(76): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 574 | chr2 | TogoVar | ||||||
VAT1L_chr16_77783564_77985107 | 77821727 | GCAGTAAT others(60): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0068 | 1 | 342 | 0.0029 | -67 | c.364 others(84): Show |
VAT1L | ENSG00000171724.3 | transcript | ENST00000302536.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
VIPR2_chr7_159023175_159149867 | 159090016 | GCACAGGG others(60): Show |
G | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp1 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0099a0001c0001t0001g0295a0001c0001t0001g0296others(2): Show | 5 | 336 | 0.0149 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
VIPR2_chr7_159023175_159149867 | 159090101 | GTGACCAT others(60): Show |
G | intron_variant | MODIFIER | NA18942.hp1 NA18972.hp2 NA18985.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0026 | a0001c0001t0003g0169a0001c0001t0003g0170a0001c0001t0003g0171others(2): Show | 5 | 336 | 0.0149 | -67 | c.357 others(86): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar |