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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMPD2_chr6_109435724_109448919 | 109443799 | TCCAGCAT others(13): Show |
T | frameshift_variant | HIGH | NA18940.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0005 | 1 | 436 | 0.0023 | -20 | c.116 others(29): Show |
p.Gln others(5): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 10/10 | 1566/1684 | 1168/1272 | 390/423 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
SMPDL3A_chr6_122784258_122814720 | 122792586 | AGTATCTC others(13): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0248 | 1 | 440 | 0.0023 | -20 | c.113 others(37): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122808605 | CCCTCCCT others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 278 | 0.0036 | -20 | c.104 others(37): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21728214 | TTCTCTCT others(13): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG02004.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0062 others(20): Show |
23 | 40 | 0.5750 | -20 | c.*14 others(37): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21731678 | TAATGTGT others(13): Show |
T | intron_variant | MODIFIER | HG02698.hp1 NA19060.hp1 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 |
3 | 287 | 0.0105 | -20 | c.*14 others(37): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21967073 | TTTATTTA others(13): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01070.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0107 others(28): Show |
31 | 296 | 0.1047 | -20 | c.50- others(32): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01928.hp2 HG02976.hp1 NA18968.hp2 others(1): Show |
a0002a0003 | a0002c0001a0003c0009 | a0002c0001t0001a0003c0009t0001 | a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0268 others(1): Show |
4 | 155 | 0.0258 | -20 | c.400 others(37): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33038452 | GTTTTATT others(13): Show |
G | downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0137 | 1 | 416 | 0.0024 | -20 | c.*88 others(31): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 3312 | chr9 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54185473 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0035 a0001c0001t0011g0053 |
3 | 433 | 0.0069 | -20 | c.-19 others(37): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54185481 | ATAAAAAA others(13): Show |
A | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 400 | 0.0025 | -20 | c.-19 others(37): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54185485 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | NA18955.hp2 NA18967.hp2 NA18974.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0004 a0001c0001t0011g0028 |
4 | 285 | 0.0140 | -20 | c.-19 others(37): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 2/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99059402 | AAAAATAA others(13): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025 | a0001c0001t0011g0120 a0001c0001t0011g0168 a0001c0001t0011g0171 others(2): Show |
5 | 59 | 0.0847 | -20 | c.203 others(37): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0155 a0001c0001t0002g0240 a0001c0001t0003g0192 others(2): Show |
5 | 124 | 0.0403 | -20 | c.56- others(35): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64605744 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA18946.hp2 NA18986.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 others(4): Show |
7 | 44 | 0.1591 | -20 | c.91+ others(33): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64607996 | CATAAATA others(13): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0113 | 1 | 56 | 0.0179 | -20 | c.53- others(35): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631281 | GGAGAGAG others(13): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02572.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0006a0002c0004t0010 | a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0006g0154 others(1): Show |
4 | 70 | 0.0571 | -20 | c.53- others(37): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0106 | 1 | 10 | 0.1000 | -20 | c.173 others(39): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214329554 | CGCTGCCC others(13): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01069.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0051 a0001c0001t0001g0052 others(4): Show |
8 | 378 | 0.0212 | -20 | c.706 others(35): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245751578 | AAGAGAGA others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 HG02258.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0002c0003t0001others(5): Show | a0001c0001t0002g0063 a0001c0002t0001g0015 a0002c0003t0001g0096 others(14): Show |
17 | 66 | 0.2576 | -20 | c.118 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245813860 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02132.hp2 HG02273.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0002t0002a0002c0003t0002 | a0001c0001t0002g0004 a0001c0001t0002g0090 a0001c0002t0002g0048 others(1): Show |
4 | 62 | 0.0645 | -20 | c.107 others(41): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993619 | TAGATAGA others(13): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03209.hp2 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0005t0001 | a0002c0003t0001g0118 a0002c0003t0002g0095 a0002c0005t0001g0119 |
3 | 149 | 0.0201 | -20 | c.532 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246113184 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG00738.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0080 others(32): Show |
35 | 95 | 0.3684 | -20 | c.532 others(41): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246116201 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01433.hp1 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0084 a0001c0001t0001g0093 a0002c0004t0001g0132 |
3 | 23 | 0.1304 | -20 | c.532 others(41): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246146617 | TGAGGAAG others(13): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0149 | 1 | 150 | 0.0067 | -20 | c.531 others(41): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246225321 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0128 | 1 | 14 | 0.0714 | -20 | c.531 others(41): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246247444 | ACTCTCTC others(13): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00738.hp1 others(21): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0023 a0001c0001t0001g0054 a0001c0001t0001g0084 others(21): Show |
24 | 117 | 0.2051 | -20 | c.531 others(39): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1795319 | TATCTATC others(13): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp1 others(65): Show |
a0002a0005a0010others(3): Show | a0002c0002a0005c0036a0010c0014others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0021others(6): Show | a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 others(62): Show |
68 | 388 | 0.1753 | -20 | c.153 others(39): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49978472 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0003 a0001c0001t0005g0004 others(1): Show |
22 | 176 | 0.1250 | -20 | c.-45 others(31): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 4507 | chr20 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10282146 | GGGAAGGA others(13): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp1 HG01109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0107 a0001c0001t0001g0274 a0001c0001t0001g0318 others(16): Show |
19 | 299 | 0.0635 | -20 | c.115 others(37): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP25_chr20_10213830_10312418 | 10282162 | TGGAAGGA others(13): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0160 a0001c0001t0001g0287 others(3): Show |
6 | 146 | 0.0411 | -20 | c.115 others(37): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP29_chr22_20854007_20896214 | 20854736 | CAAAGAGA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(195): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(173): Show |
198 | 380 | 0.5211 | -20 | c.-43 others(31): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 4270 | chr22 | TogoVar | |||||||
SNAP29_chr22_20854007_20896214 | 20874349 | CCACACAC others(13): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025a0001c0001t0039 | a0001c0001t0003g0156 a0001c0001t0025g0157 a0001c0001t0025g0158 others(1): Show |
4 | 15 | 0.2667 | -20 | c.434 others(37): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227776641 | GCACACGA others(13): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0131 | 1 | 394 | 0.0025 | -20 | c.111 others(39): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227779091 | TGGCAGCC others(13): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01099.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0204 a0001c0001t0001g0205 others(12): Show |
16 | 394 | 0.0406 | -20 | c.111 others(39): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SNAP91_chr6_83547885_83714101 | 83610728 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp1 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0010 | a0001c0007t0001g0329 a0001c0007t0010g0359 |
2 | 364 | 0.0055 | -20 | c.885 others(33): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61796998 | CTTTTTTT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp1 others(92): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(84): Show |
95 | 207 | 0.4589 | -20 | c.*20 others(31): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 571 | chr14 | TogoVar | |||||||
SNAPC3_chr9_15417876_15466626 | 15449555 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0031 | 1 | 304 | 0.0033 | -20 | c.733 others(37): Show |
SNAPC3 | ENSG00000164975.16 | transcript | ENST00000380821.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122358159 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(30): Show |
a0001a0005a0007 | a0001c0001a0001c0004a0005c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0091 others(30): Show |
33 | 156 | 0.2115 | -20 | c.-46 others(39): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122363788 | CTATTTAT others(13): Show |
C | intron_variant | MODIFIER | HG00558.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0146 a0001c0001t0004g0178 |
2 | 46 | 0.0435 | -20 | c.-46 others(39): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCG_chr10_86953599_86968258 | 86967150 | CGTGTGTG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02129.hp1 HG03130.hp1 NA18987.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(1): Show | a0001c0001t0001g0027 a0001c0001t0002g0019 a0001c0005t0003g0042 others(1): Show |
5 | 42 | 0.1190 | -20 | c.*41 others(31): Show |
SNCG | ENSG00000173267.14 | transcript | ENST00000372017.4 | protein_coding | 3893 | chr10 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127915996 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02572.hp2 NA18522.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 a0001c0004t0001g0096 a0001c0004t0001g0097 |
3 | 29 | 0.1034 | -20 | c.152 others(41): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127953151 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG03195.hp1 HG03239.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0138 a0001c0001t0001g0168 a0001c0004t0001g0167 |
3 | 27 | 0.1111 | -20 | c.166 others(41): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127953202 | GTGTGTGT others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG02055.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0069 others(2): Show |
5 | 260 | 0.0192 | -20 | c.166 others(41): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 15/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNPH_chr20_1261294_1314327 | 1289512 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01069.hp1 others(46): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(14): Show | a0001c0001t0002g0166 a0001c0001t0003g0018 a0001c0001t0003g0019 others(42): Show |
49 | 57 | 0.8596 | -20 | c.-49 others(39): Show |
SNPH | ENSG00000101298.15 | transcript | ENST00000381867.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43313170 | GTAAATAT others(13): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02622.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0004 a0001c0004t0001g0132 a0001c0004t0001g0134 |
6 | 256 | 0.0234 | -20 | c.589 others(37): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRK_chr3_43281540_43356143 | 43339818 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00738.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0025 a0001c0001t0001g0108 a0001c0001t0001g0182 others(3): Show |
8 | 19 | 0.4211 | -20 | c.732 others(35): Show |
SNRK | ENSG00000163788.14 | transcript | ENST00000296088.12 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SNRNP25_chr16_48828_62669 | 50227 | GAGATTGC others(13): Show |
G | upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 422 | 0.0024 | -20 | c.-37 others(31): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 3600 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52446 | CAAAAAAA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01074.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004 | a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0003g0020 others(1): Show |
7 | 28 | 0.2500 | -20 | c.-15 others(31): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1381 | chr16 | TogoVar | |||||||
SNRNP25_chr16_48828_62669 | 52776 | AAAAAAAA others(13): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 422 | 0.0047 | -20 | c.-12 others(31): Show |
SNRNP25 | ENSG00000161981.11 | transcript | ENST00000293861.8 | protein_coding | 1051 | chr16 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123456736 | CGTGTGTG others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 a0001c0002t0004g0095 a0001c0002t0004g0099 others(1): Show |
6 | 39 | 0.1538 | -20 | c.-14 others(31): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 1402 | chr12 | TogoVar |