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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCGB1C1_chr11_188078_199575 | 196445 | ACATGGGG others(123): Show |
A | downstream_gene_variant | MODIFIER | NA18987.hp1 NA19062.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0005t0001 | a0001c0003t0001g0003a0001c0005t0001g0004 | 2 | 354 | 0.0057 | -130 | c.*19 others(11): Show |
SCGB1C1 | ENSG00000188076.3 | transcript | ENST00000342878.3 | protein_coding | 1871 | chr11 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288676 | CTCCGTCC others(123): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 290 | 0.0035 | -130 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289422 | TCTGCTCC others(123): Show |
T | intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0079 | 1 | 290 | 0.0035 | -130 | c.166 others(17): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SH3BP5_chr3_15249353_15337586 | 15272527 | CTAAAGAC others(123): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01167.hp1 HG01168.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0185a0001c0001t0001g0197a0001c0001t0001g0283others(15): Show | 18 | 376 | 0.0479 | -130 | c.331 others(17): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4380997 | ACAGAGGA others(123): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 358 | 0.0028 | -130 | c.46- others(17): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1/9 | chr19 | TogoVar | ||||||
SH3PXD2B_chr5_172328499_172459525 | 172368556 | ATATATAT others(123): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG02698.hp1 others(12): Show |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0054a0001c0001t0001g0125a0001c0001t0001g0126others(12): Show | 15 | 280 | 0.0536 | -130 | c.427 others(17): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | ||||||
SHC2_chr19_411589_466033 | 452335 | GTTTCATT others(123): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02818.hp1 HG02976.hp2 others(2): Show |
a0001a0003a0010 | a0001c0001a0001c0005a0003c0008others(1): Show | a0001c0001t0004a0001c0005t0015a0003c0008t0003others(2): Show | a0001c0001t0004g0033a0001c0005t0015g0008a0003c0008t0003g0183others(2): Show | 5 | 212 | 0.0236 | -130 | c.468 others(17): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | ||||||
SKI_chr1_2223319_2315213 | 2280677 | CGATCTTC others(123): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01993.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0105a0001c0001t0003g0032a0001c0001t0003g0280others(7): Show | 10 | 330 | 0.0303 | -130 | 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 | 2281123 | GGATGCCC others(123): Show |
G | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 330 | 0.0030 | -130 | 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 | 2282078 | CGAGAAGA others(123): Show |
C | intron_variant | MODIFIER | HG01993.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0025 | a0001c0001t0005g0161a0001c0001t0025g0122 | 2 | 330 | 0.0061 | -130 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC25A22_chr11_785475_803281 | 785676 | TGGCCTTC others(123): Show |
T | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 410 | 0.0024 | -130 | c.*61 others(11): Show |
SLC25A22 | ENSG00000177542.11 | transcript | ENST00000628067.3 | protein_coding | 4798 | chr11 | TogoVar | ||||||
SNX9_chr6_157818246_157950077 | 157827385 | TTATAGTT others(123): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 | 1 | 302 | 0.0033 | -130 | c.12+ others(15): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPON1_chr11_13957723_14273133 | 14160431 | TTATATAT others(123): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 224 | 0.0045 | -130 | c.825 others(19): Show |
SPON1 | ENSG00000262655.4 | transcript | ENST00000576479.4 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STON1_chr2_48525154_48603513 | 48564478 | TCTTTCTT others(123): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02723.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0009others(1): Show | a0002c0002t0002g0196a0002c0002t0002g0200a0002c0002t0007g0224others(2): Show | 5 | 376 | 0.0133 | -130 | c.-47 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76172290 | GGGGGGGG others(123): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0100a0001c0002t0103a0001c0002t0106others(1): Show | a0001c0002t0100g0206a0001c0002t0103g0148a0001c0002t0106g0210others(1): Show | 4 | 234 | 0.0171 | -130 | c.581 others(19): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SYCE1L_chr16_77194408_77218215 | 77212288 | TGGTGCGC others(123): Show |
T | frameshift_variant others(3): Show |
HIGH | HG01934.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0173 | 1 | 442 | 0.0023 | -130 | c.503 others(10): Show |
p.Val others(5): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 9/11 | 547/1057 | 503/729 | 168/242 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
TAF13_chr1_109059140_109081003 | 109071957 | AATATATA others(123): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02145.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0164a0001c0001t0002g0093a0001c0001t0002g0112others(10): Show | 14 | 414 | 0.0338 | -130 | c.106 others(17): Show |
TAF13 | ENSG00000197780.11 | transcript | ENST00000338366.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
TIAM2_chr6_154990315_155262723 | 155027737 | ATATATAA others(123): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0186 | 1 | 230 | 0.0044 | -130 | c.-20 others(21): Show |
TIAM2 | ENSG00000146426.19 | transcript | ENST00000682666.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TIMM22_chr17_992129_1008671 | 1006842 | GCGCCATG others(123): Show |
G | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02647.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0013others(5): Show | a0001c0001t0007g0012a0001c0001t0007g0062a0001c0001t0009g0011others(7): Show | 21 | 439 | 0.0478 | -130 | c.*57 others(11): Show |
TIMM22 | ENSG00000177370.5 | transcript | ENST00000327158.5 | protein_coding | 3172 | chr17 | TogoVar | ||||||
TMEM163_chr2_134450759_134724000 | 134607727 | GTGAAAAG others(123): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG02895.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0012a0001c0001t0002g0008a0001c0001t0002g0013others(1): Show | 4 | 222 | 0.0180 | -130 | c.323 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 2/7 | chr2 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75457083 | ACCTGGCT others(123): Show |
A | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 361 | 0.0028 | -130 | c.134 others(17): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55763718 | ATCAATAT others(123): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(323): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(282): Show | 326 | 372 | 0.8763 | -130 | c.-70 others(14): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
TMPRSS2_chr21_41459305_41513158 | 41475509 | GGTGAGGT others(123): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01069.hp1 others(49): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(10): Show | a0001c0001t0001g0228a0001c0001t0001g0369a0001c0001t0001g0371others(47): Show | 52 | 382 | 0.1361 | -130 | c.727 others(16): Show |
TMPRSS2 | ENSG00000184012.14 | transcript | ENST00000332149.10 | protein_coding | 8/13 | chr21 | TogoVar | ||||||
TNS1_chr2_217794791_218007995 | 217797007 | GAGATCGC others(123): Show |
G | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0021 | a0003c0021t0005 | a0003c0021t0005g0173 | 1 | 244 | 0.0041 | -130 | c.*73 others(11): Show |
TNS1 | ENSG00000079308.21 | transcript | ENST00000682258.1 | protein_coding | 2783 | chr2 | TogoVar | ||||||
TRAPPC11_chr4_183654293_183718589 | 183715962 | GAGCGCAG others(123): Show |
G | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0240 | 1 | 420 | 0.0024 | -130 | c.*33 others(11): Show |
TRAPPC11 | ENSG00000168538.16 | transcript | ENST00000334690.11 | protein_coding | 2374 | chr4 | TogoVar | ||||||
TRPC4AP_chr20_34997404_35097807 | 35097361 | ACATATAC others(123): Show |
A | upstream_gene_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 334 | 0.0030 | -130 | c.-47 others(11): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4555 | chr20 | TogoVar | ||||||
USP13_chr3_179648040_179794401 | 179727707 | AGGCAGAG others(123): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0015a0001c0002t0015a0001c0003t0001 | a0001c0001t0015g0292a0001c0002t0015g0130a0001c0003t0001g0240 | 3 | 300 | 0.0100 | -130 | c.108 others(19): Show |
USP13 | ENSG00000058056.10 | transcript | ENST00000263966.8 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
USP40_chr2_233470526_233571782 | 233567318 | TATTATAG others(123): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG02895.hp1 |
a0006 | a0006c0006 | a0006c0006t0004 | a0006c0006t0004g0026a0006c0006t0004g0027a0006c0006t0004g0033 | 3 | 324 | 0.0093 | -130 | c.-78 others(9): Show |
USP40 | ENSG00000085982.16 | transcript | ENST00000678225.2 | protein_coding | 537 | chr2 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 505131 | ACAGTGGT others(123): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0221 | 1 | 232 | 0.0043 | -130 | c.*13 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 3536 | chr17 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 505896 | AAGATCAG others(123): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(42): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0002a0001c0001t0016a0001c0001t0030others(26): Show | a0001c0001t0002g0121a0001c0001t0002g0128a0001c0001t0002g0133others(42): Show | 45 | 232 | 0.1940 | -130 | c.*13 others(13): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 2771 | chr17 | TogoVar | ||||||
VSIR_chr10_71742556_71778520 | 71760119 | GTGTATAT others(123): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02630.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0031a0001c0001t0039a0001c0001t0046others(6): Show | a0001c0001t0031g0020a0001c0001t0039g0255a0001c0001t0046g0254others(7): Show | 12 | 462 | 0.0260 | -130 | c.568 others(15): Show |
VSIR | ENSG00000107738.20 | transcript | ENST00000394957.8 | protein_coding | 3/6 | chr10 | TogoVar | ||||||
YAF2_chr12_42152104_42243248 | 42228268 | CGCCAGCC others(123): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02647.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0015 | a0001c0003t0001g0234a0001c0003t0001g0235a0001c0003t0001g0236others(2): Show | 5 | 374 | 0.0134 | -130 | c.152 others(17): Show |
YAF2 | ENSG00000015153.15 | transcript | ENST00000534854.7 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
ZNF407_chr18_74592870_75070671 | 74916282 | TGTGTGTG others(123): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 1 | 92 | 0.0109 | -130 | c.525 others(19): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ZNF410_chr14_73881859_73937521 | 73910801 | GCAGTGAG others(123): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0001g0149others(7): Show | 10 | 400 | 0.0250 | -130 | c.100 others(19): Show |
ZNF410 | ENSG00000119725.21 | transcript | ENST00000555044.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZNF511_chr10_133303914_133318161 | 133317816 | CCCCCCCA others(123): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 282 | 0.0036 | -130 | c.*49 others(11): Show |
ZNF511 | ENSG00000198546.15 | transcript | ENST00000361518.10 | protein_coding | 4656 | chr10 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76393891 | AGGCAGGT others(123): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0004 | a0004c0017 | a0004c0017t0074 | a0004c0017t0074g0301 | 1 | 346 | 0.0029 | -130 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76394568 | CGGGTGGT others(123): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02922.hp2 |
a0001 | a0001c0028a0001c0044 | a0001c0028t0071a0001c0044t0113 | a0001c0028t0071g0128a0001c0044t0113g0107 | 2 | 346 | 0.0058 | -130 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF516_chr18_76352682_76500242 | 76432230 | ACCAACAC others(123): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 | 1 | 346 | 0.0029 | -130 | c.181 others(19): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
ZNF557_chr19_7064703_7092968 | 7074796 | GGGGGTGT others(123): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0015a0001c0001t0078a0002c0005t0058others(1): Show | a0001c0001t0015g0317a0001c0001t0078g0320a0002c0005t0058g0318others(2): Show | 5 | 432 | 0.0116 | -130 | c.-79 others(14): Show |
ZNF557 | ENSG00000130544.12 | transcript | ENST00000252840.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF609_chr15_64455578_64691068 | 64577336 | CATATATA others(123): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007a0001c0002t0016others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0153a0001c0002t0007g0069others(3): Show | 6 | 176 | 0.0341 | -130 | c.748 others(19): Show |
ZNF609 | ENSG00000180357.10 | transcript | ENST00000326648.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ZNF723_chr19_22827291_22863667 | 22862490 | TATGTAAT others(123): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp1 HG01074.hp1 HG01358.hp1 others(34): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(1): Show | a0002c0002t0002g0041a0002c0002t0002g0042a0002c0002t0002g0047others(31): Show | 37 | 364 | 0.1017 | -130 | c.*40 others(11): Show |
ZNF723 | ENSG00000268696.3 | transcript | ENST00000600766.3 | protein_coding | 3824 | chr19 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 16003158 | AGATGGAT others(122): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00609.hp1 others(51): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0017a0001c0001t0001g0030a0001c0001t0001g0086others(51): Show | 54 | 249 | 0.2169 | -129 | c.49- others(15): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ABCC1_chr16_15944616_16148053 | 16003295 | TGATGGGT others(122): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(70): Show | a0001c0001t0001g0040a0001c0001t0001g0068a0001c0001t0001g0069others(170): Show | 173 | 249 | 0.6948 | -129 | c.49- others(15): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195302896 | GCAACAGA others(122): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 324 | 0.0031 | -129 | c.111 others(17): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | ||||||
ADAMTS14_chr10_70667506_70767441 | 70686935 | ACCCCCAC others(122): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02280.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0087a0001c0088a0002c0001others(2): Show | a0001c0087t0003a0001c0088t0002a0002c0001t0005others(2): Show | a0001c0087t0003g0299a0001c0088t0002g0298a0002c0001t0005g0055others(2): Show | 5 | 354 | 0.0141 | -129 | c.522 others(19): Show |
ADAMTS14 | ENSG00000138316.11 | transcript | ENST00000373207.2 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AGRN_chr1_1015120_1061116 | 1016932 | GCCCAAAG others(122): Show |
G | upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 210 | 0.0048 | -129 | c.-32 others(11): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 3187 | chr1 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29280585 | CAGGGAAA others(122): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02897.hp2 HG03209.hp1 |
a0002 | a0002c0011a0002c0052a0002c0056 | a0002c0011t0001a0002c0052t0001a0002c0056t0001 | a0002c0011t0001g0042a0002c0052t0001g0017a0002c0056t0001g0040 | 3 | 80 | 0.0375 | -129 | c.181 others(19): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | ||||||
ARHGEF18_chr19_7343937_7477478 | 7362041 | GAGAAGGA others(122): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02965.hp2 NA19240.hp2 |
a0001a0023 | a0001c0001a0023c0041 | a0001c0001t0004a0001c0001t0005a0023c0041t0002 | a0001c0001t0004g0293a0001c0001t0005g0296a0023c0041t0002g0298 | 3 | 298 | 0.0101 | -129 | c.-11 others(17): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF7_chr13_111110310_111310732 | 111310111 | GCATTAGT others(122): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0117a0001c0005t0020g0118 | 2 | 274 | 0.0073 | -129 | c.*69 others(11): Show |
ARHGEF7 | ENSG00000102606.20 | transcript | ENST00000646102.2 | protein_coding | 4380 | chr13 | TogoVar | ||||||
ARL5A_chr2_151793797_151833421 | 151832063 | CCAGCCTG others(122): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0122 | 1 | 380 | 0.0026 | -129 | c.-40 others(11): Show |
ARL5A | ENSG00000162980.17 | transcript | ENST00000295087.13 | protein_coding | 3643 | chr2 | TogoVar |