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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB2_chr10_1172313_1742525 | 1235646 | CTCCCGGT others(3059): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0063 | a0002c0002t0063g0091 | 1 | 106 | 0.0094 | -3066 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138084497 | GCTAAAGA others(3057): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
a0001a0014a0022 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0004a0001c0003t0034a0001c0005t0004others(5): Show | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | 248 | 0.0968 | -3064 | c.509 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | TogoVar | ||||||
EYA1_chr8_71192433_71367069 | 71302510 | CAGGCTGA others(3056): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0013a0001c0001t0001g0114a0001c0001t0001g0139others(35): Show | 38 | 232 | 0.1638 | -3063 | c.557 others(17): Show |
EYA1 | ENSG00000104313.20 | transcript | ENST00000340726.8 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
GGPS1_chr1_235323570_235349532 | 235346469 | TCTCTATG others(3056): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0005 | 2 | 392 | 0.0051 | -3063 | c.*36 others(11): Show |
GGPS1 | ENSG00000152904.11 | transcript | ENST00000282841.9 | protein_coding | 1938 | chr1 | TogoVar | ||||||
H3-5_chr12_31786185_31797298 | 31794237 | TGGGCATG others(3054): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0000 | 1 | 444 | 0.0023 | -3061 | c.-51 others(11): Show |
H3-5 | ENSG00000188375.5 | transcript | ENST00000340398.5 | protein_coding | 1940 | chr12 | TogoVar | ||||||
SOAT1_chr1_179288797_179363680 | 179360620 | CCACTGCA others(3053): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp1 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0004a0001c0008a0001c0013others(4): Show | a0001c0004t0011a0001c0004t0012a0001c0004t0016others(21): Show | a0001c0004t0011g0138a0001c0004t0011g0140a0001c0004t0011g0141others(35): Show | 38 | 382 | 0.0995 | -3060 | c.*69 others(12): Show |
SOAT1 | ENSG00000057252.13 | transcript | ENST00000367619.8 | protein_coding | 1941 | chr1 | TogoVar | ||||||
RPIA_chr2_88686673_88755929 | 88729710 | TGAAAATA others(3048): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(240): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(203): Show | 243 | 368 | 0.6603 | -3055 | c.462 others(16): Show |
RPIA | ENSG00000153574.9 | transcript | ENST00000283646.5 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NACC2_chr9_136001537_136100289 | 136068309 | TCAACATG others(3038): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02896.hp2 others(2): Show |
a0001a0002a0008 | a0001c0008a0002c0006a0008c0032 | a0001c0008t0025a0001c0008t0050a0002c0006t0006others(1): Show | a0001c0008t0025g0005a0001c0008t0050g0245a0002c0006t0006g0060others(2): Show | 5 | 348 | 0.0144 | -3045 | c.-59 others(19): Show |
NACC2 | ENSG00000148411.8 | transcript | ENST00000277554.4 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637215 | ACATGAGG others(3037): Show |
A | intron_variant | MODIFIER | NA19082.hp1 | a0012 | a0012c0007 | a0012c0007t0001 | a0012c0007t0001g0036 | 1 | 223 | 0.0045 | -3044 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
WASF1_chr6_110094819_110184670 | 110155523 | TCTAAAGT others(3034): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01516.hp1 HG01517.hp1 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0149a0001c0001t0004g0150a0001c0001t0004g0151others(37): Show | 40 | 262 | 0.1527 | -3041 | c.-29 others(17): Show |
WASF1 | ENSG00000112290.13 | transcript | ENST00000392589.6 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162162737 | CGGTGGCT others(3032): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02602.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0002a0001c0004t0001a0002c0002t0009others(1): Show | a0001c0001t0002g0007a0001c0001t0002g0023a0001c0004t0001g0001others(3): Show | 6 | 32 | 0.1875 | -3039 | c.534 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
ERC1_chr12_986223_1500931 | 1087864 | GAAAGTGC others(3028): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03130.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0098a0002c0002t0101a0002c0002t0102others(2): Show | a0002c0002t0098g0045a0002c0002t0101g0056a0002c0002t0102g0055others(2): Show | 5 | 162 | 0.0309 | -3035 | c.108 others(19): Show |
ERC1 | ENSG00000082805.21 | transcript | ENST00000360905.9 | protein_coding | 3/18 | chr12 | TogoVar | ||||||
IFT88_chr13_20562157_20696444 | 20678946 | GTTAATAG others(3027): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 308 | 0.0033 | -3034 | c.224 others(19): Show |
IFT88 | ENSG00000032742.18 | transcript | ENST00000351808.10 | protein_coding | 24/25 | chr13 | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6114457 | TTAATGGA others(3027): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01109.hp1 HG02895.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0041a0001c0003t0006g0038a0001c0003t0006g0040others(1): Show | 4 | 128 | 0.0313 | -3034 | c.472 others(19): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | ||||||
STON1_chr2_48525154_48603513 | 48554696 | TTAAGTGC others(3025): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(132): Show |
a0001a0002a0003others(8): Show | a0001c0003a0002c0002a0002c0005others(9): Show | a0001c0003t0005a0002c0002t0001a0002c0002t0002others(23): Show | a0001c0003t0005g0284a0002c0002t0001g0002a0002c0002t0001g0003others(132): Show | 135 | 376 | 0.3590 | -3032 | c.-48 others(19): Show |
STON1 | ENSG00000243244.7 | transcript | ENST00000404752.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CNOT4_chr7_135356795_135515102 | 135456263 | TCTACCAT others(3023): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0319 | 2 | 362 | 0.0055 | -3030 | c.-92 others(19): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
ZGRF1_chr4_112534339_112641909 | 112577054 | AGCCCATT others(3023): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(136): Show |
a0001a0002a0005others(5): Show | a0001c0015a0002c0002a0002c0021others(10): Show | a0001c0015t0002a0002c0002t0001a0002c0002t0002others(12): Show | a0001c0015t0002g0119a0002c0002t0001g0338a0002c0002t0002g0001others(122): Show | 139 | 390 | 0.3564 | -3030 | c.443 others(19): Show |
ZGRF1 | ENSG00000138658.16 | transcript | ENST00000505019.6 | protein_coding | 16/27 | chr4 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1373836 | AGGACACA others(3022): Show |
A | intron_variant | MODIFIER | NA18995.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0074a0001c0001t0011g0013 | 2 | 115 | 0.0174 | -3029 | c.875 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CYRIB_chr8_129834593_130021560 | 129991974 | AATAGGAA others(3018): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 288 | 0.0035 | -3025 | c.-19 others(21): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3287822 | AGAACTTC others(3016): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp1 HG02559.hp1 others(11): Show |
a0001a0002a0005others(5): Show | a0001c0004a0001c0007a0001c0020others(10): Show | a0001c0004t0020a0001c0004t0063a0001c0007t0001others(11): Show | a0001c0004t0020g0086a0001c0004t0063g0095a0001c0007t0001g0035others(11): Show | 14 | 126 | 0.1111 | -3023 | c.395 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 25/69 | chr8 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1429577 | TCAGCAGT others(3015): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0230 | 1 | 360 | 0.0028 | -3022 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(3015): Show |
T | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0238 | 1 | 360 | 0.0028 | -3022 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SFTPA1_chr10_79605939_79620443 | 79617422 | GGCATTTA others(3014): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0006 | 1 | 472 | 0.0021 | -3021 | c.*33 others(11): Show |
SFTPA1 | ENSG00000122852.15 | transcript | ENST00000398636.8 | protein_coding | 1980 | chr10 | TogoVar | ||||||
FBXO28_chr1_224109111_224167047 | 224136551 | ATCTCTAC others(3013): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007a0001c0001t0010g0021a0001c0001t0010g0022others(1): Show | 5 | 394 | 0.0127 | -3020 | c.516 others(17): Show |
FBXO28 | ENSG00000143756.12 | transcript | ENST00000366862.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SMARCA2_chr9_2010347_2198620 | 2149031 | GTGTTTAT others(3013): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0198 | 1 | 316 | 0.0032 | -3020 | c.398 others(20): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LTO1_chr11_69660563_69680353 | 69677334 | TCAGGAGA others(3012): Show |
T | upstream_gene_variant | MODIFIER | HG02622.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0098a0001c0001t0012g0099 | 2 | 326 | 0.0061 | -3019 | c.-51 others(11): Show |
LTO1 | ENSG00000149716.13 | transcript | ENST00000279147.9 | protein_coding | 1982 | chr11 | TogoVar | ||||||
CCSER1_chr4_90122394_91610295 | 91554140 | CATTGTTT others(3009): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02886.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0005a0003c0005t0005 | a0001c0001t0005g0017a0003c0005t0005g0011 | 2 | 38 | 0.0526 | -3016 | c.221 others(21): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLC25A10_chr17_81707284_81726012 | 81722799 | AGGTCTCA others(2998): Show |
A | downstream_gene_variant | MODIFIER | HG02965.hp1 HG03579.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0012 | a0001c0001t0004g0012a0001c0002t0004g0036a0001c0002t0012g0037 | 3 | 414 | 0.0073 | -3005 | c.*27 others(11): Show |
SLC25A10 | ENSG00000183048.12 | transcript | ENST00000350690.10 | protein_coding | 1788 | chr17 | TogoVar | ||||||
MUC17_chr7_101015081_101063859 | 101035033 | TTACCAGC others(2996): Show |
T | conservative_inframe_deletion | MODERATE | HG02071.hp2 | a0040 | a0040c0043 | a0040c0043t0003 | a0040c0043t0003g0008 | 1 | 366 | 0.0027 | -3003 | c.364 others(9): Show |
p.Gly others(15): Show |
MUC17 | ENSG00000169876.14 | transcript | ENST00000306151.9 | protein_coding | 3/13 | 3698/14352 | 3643/13482 | 1215/4493 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ADGRB3_chr6_68630282_69394506 | 69084721 | GATAATAA others(2995): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 120 | 0.0083 | -3002 | c.248 others(20): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ARHGAP44_chr17_12784498_12996643 | 12916391 | GTTTTTTT others(2995): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0034 | 1 | 230 | 0.0044 | -3002 | c.387 others(15): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 5/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CDC42BPA_chr1_226984865_227323492 | 227075672 | TAATTACC others(2995): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0106 | 1 | 352 | 0.0028 | -3002 | c.248 others(19): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
CRTC1_chr19_18678680_18787333 | 18686700 | CCCTGGAA others(2995): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0215 | 1 | 274 | 0.0037 | -3002 | c.126 others(17): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
THEMIS_chr6_127703200_127906058 | 127821675 | GCCACTGT others(2989): Show |
G | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0217 | 1 | 223 | 0.0045 | -2996 | c.709 others(17): Show |
THEMIS | ENSG00000172673.12 | transcript | ENST00000368248.5 | protein_coding | 3/5 | chr6 | TogoVar | ||||||
TMEFF1_chr9_100468149_100582636 | 100492779 | TGGATCTG others(2988): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 242 | 0.0041 | -2995 | c.197 others(17): Show |
TMEFF1 | ENSG00000241697.5 | transcript | ENST00000374879.5 | protein_coding | 1/9 | chr9 | TogoVar | ||||||
WDR33_chr2_127696027_127816171 | 127794239 | CCTGTAAT others(2987): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075a0001c0001t0004g0083 | 2 | 318 | 0.0063 | -2994 | c.-24 others(19): Show |
WDR33 | ENSG00000136709.12 | transcript | ENST00000322313.9 | protein_coding | 1/21 | chr2 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138081484 | GGAAAAAA others(2985): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00673.hp1 others(21): Show |
a0001a0014a0022 | a0001c0002a0001c0003a0001c0005others(5): Show | a0001c0002t0004a0001c0003t0034a0001c0005t0004others(5): Show | a0001c0002t0004g0067a0001c0002t0004g0070a0001c0002t0004g0073others(21): Show | 24 | 248 | 0.0968 | -2992 | c.509 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | chr9 | TogoVar | ||||||
FRY_chr13_32026774_32304125 | 32097588 | CAACATCA others(2985): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0030 | a0002c0030t0016 | a0002c0030t0016g0155 | 1 | 236 | 0.0042 | -2992 | c.271 others(17): Show |
FRY | ENSG00000073910.23 | transcript | ENST00000542859.6 | protein_coding | 2/60 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99736670 | CACAATCT others(2979): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0079 | 1 | 100 | 0.0100 | -2986 | c.103 others(19): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 10/24 | chr2 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132526542 | TAAAAAAA others(2974): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp1 others(22): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0057a0001c0001t0001g0079a0001c0001t0001g0108others(22): Show | 25 | 322 | 0.0776 | -2981 | c.525 others(18): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LRRC20_chr10_70293975_70387625 | 70368194 | GTCGCCCA others(2972): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 | 1 | 378 | 0.0027 | -2979 | c.82+ others(15): Show |
LRRC20 | ENSG00000172731.15 | transcript | ENST00000446961.4 | protein_coding | 2/4 | chr10 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176275706 | CTTTTCTG others(2971): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159a0001c0001t0001g0160 | 2 | 360 | 0.0056 | -2978 | c.130 others(19): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
NADSYN1_chr11_71448203_71506816 | 71501699 | GGAGGGGT others(2970): Show |
G | splice_region_variant | LOW | HG02615.hp2 HG03540.hp1 |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0264a0002c0005t0004g0265 | 2 | 354 | 0.0057 | -2977 | c.*34 others(10): Show |
NADSYN1 | ENSG00000172890.13 | transcript | ENST00000319023.7 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1429523 | GCTGTGCC others(2968): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0045a0001c0001t0003g0196others(1): Show | 5 | 360 | 0.0139 | -2975 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1429624 | TCAGCAGT others(2968): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03471.hp2 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0002c0005t0005 | a0001c0001t0001g0312a0001c0001t0003g0234a0002c0005t0005g0289 | 3 | 360 | 0.0083 | -2975 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CDK9_chr9_127781034_127795792 | 127792334 | CCTGTAAT others(2968): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 412 | 0.0024 | -2975 | c.*27 others(11): Show |
CDK9 | ENSG00000136807.14 | transcript | ENST00000373264.5 | protein_coding | 1543 | chr9 | TogoVar | ||||||
THRB_chr3_24112153_24499850 | 24122027 | CACAGAAA others(2968): Show |
C | stop_lost others(2): Show |
HIGH | HG02970.hp1 | a0000 | a0000c0004 | a0000c0004t0054 | a0000c0004t0054g0131 | 1 | 178 | 0.0056 | -2975 | c.114 others(14): Show |
p.Asp others(19): Show |
THRB | ENSG00000151090.20 | transcript | ENST00000646209.2 | protein_coding | 11/11 | 2701/7576 | 1145/1386 | 382/461 | chr3 | TogoVar | ||
ARHGAP15_chr2_143124419_143773352 | 143756885 | ACTTTTTT others(2967): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 162 | 0.0062 | -2974 | c.124 others(20): Show |
ARHGAP15 | ENSG00000075884.14 | transcript | ENST00000295095.11 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49252684 | TTTAACAT others(2966): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0003others(4): Show | a0001c0001t0002g0148a0001c0001t0009g0147a0001c0002t0003g0133others(35): Show | 38 | 348 | 0.1092 | -2973 | c.504 others(19): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
SIMC1_chr5_176233424_176350989 | 176274993 | GTTTTTCC others(2966): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0329 | 1 | 360 | 0.0028 | -2973 | c.130 others(19): Show |
SIMC1 | ENSG00000170085.18 | transcript | ENST00000429602.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |