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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008a0001c0001t0006g0009 | 2 | 268 | 0.0075 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0090 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(90): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0014others(90): Show | 93 | 268 | 0.3470 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0086 | 2 | 268 | 0.0075 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 268 | 0.0037 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
AP2A2_chr11_920870_1017240 | 975541 | A | AGTGGGGT others(980): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0116others(1): Show | 4 | 268 | 0.0149 | 987 | c.474 others(1004): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(980): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18962.hp2 NA19063.hp1 others(1): Show |
a0003 | a0003c0007 | a0003c0007t0011 | a0003c0007t0011g0025a0003c0007t0011g0105a0003c0007t0011g0115others(1): Show | 4 | 254 | 0.0158 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872881 | C | CTTCCTGA others(980): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00738.hp1 others(9): Show |
a0003a0011 | a0003c0007a0003c0008a0003c0012others(2): Show | a0003c0007t0005a0003c0008t0001a0003c0008t0008others(4): Show | a0003c0007t0005g0001a0003c0007t0005g0177a0003c0008t0001g0010others(9): Show | 12 | 254 | 0.0472 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112872948 | G | GTGGTGTG others(980): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp2 HG02809.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0039others(1): Show | a0001c0002t0007a0001c0004t0042a0001c0039t0037others(2): Show | a0001c0002t0007g0110a0001c0002t0007g0237a0001c0002t0007g0253others(4): Show | 7 | 254 | 0.0276 | 987 | c.305 others(1004): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 26/29 | chr13 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(980): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0015 | a0015c0027 | a0015c0027t0003 | a0015c0027t0003g0139 | 1 | 298 | 0.0034 | 987 | c.955 others(1004): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
B3GNTL1_chr17_82937149_83056770 | 83022500 | G | GAGCTTAG others(980): Show |
intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089a0001c0002t0001g0114 | 2 | 266 | 0.0075 | 987 | c.298 others(1004): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1433069 | T | TCAGCAGT others(980): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 360 | 0.0028 | 987 | c.92- others(1002): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(980): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01081.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138a0001c0001t0002g0158a0001c0001t0002g0160others(12): Show | 15 | 326 | 0.0460 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(980): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0322a0001c0001t0003g0323 | 2 | 326 | 0.0061 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331550 | G | GGAAGGGA others(980): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212a0001c0001t0002g0213a0001c0001t0002g0214others(2): Show | 5 | 326 | 0.0153 | 987 | c.327 others(1004): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(980): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0101 | a0001c0001t0001g0047a0001c0001t0101g0156 | 2 | 214 | 0.0094 | 987 | c.565 others(1004): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(980): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 | 1 | 236 | 0.0042 | 987 | c.342 others(1008): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(980): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 320 | 0.0031 | 987 | c.380 others(1004): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(980): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 320 | 0.0031 | 987 | c.380 others(1004): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(980): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0004 | a0004c0009 | a0004c0009t0004 | a0004c0009t0004g0177 | 1 | 216 | 0.0046 | 987 | c.923 others(1006): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(980): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0054 | 1 | 148 | 0.0068 | 987 | c.183 others(1006): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619366 | C | CCCCCCCG others(980): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 250 | 0.0040 | 987 | c.-10 others(1006): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCG others(980): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 290 | 0.0035 | 987 | c.162 others(1006): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
FAM118B_chr11_126206782_126267968 | 126226100 | A | AAGGCCAG others(980): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134a0001c0001t0001g0135a0001c0001t0001g0136 | 3 | 346 | 0.0087 | 987 | c.-76 others(1004): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(980): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0171 | 1 | 418 | 0.0024 | 987 | c.119 others(1006): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551500 | G | GGAAGAGG others(980): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 46 | 0.0217 | 987 | c.-17 others(1006): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180634823 | T | TGGGAGGA others(980): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0063 | 1 | 388 | 0.0026 | 987 | c.59- others(1002): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCCTTC others(980): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0063 | a0063c0134 | a0063c0134t0005 | a0063c0134t0005g0151 | 1 | 174 | 0.0058 | 987 | c.193 others(1006): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(980): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 350 | 0.0029 | 987 | c.94- others(1000): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(980): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 350 | 0.0029 | 987 | c.94- others(1000): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(980): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 350 | 0.0029 | 987 | c.94- others(1000): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(980): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 350 | 0.0029 | 987 | c.94- others(1000): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(980): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 350 | 0.0029 | 987 | c.94- others(1000): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
ISYNA1_chr19_18429388_18443133 | 18442449 | A | ACACACCC others(980): Show |
upstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 308 | 0.0033 | 987 | c.-43 others(998): Show |
ISYNA1 | ENSG00000105655.19 | transcript | ENST00000338128.13 | protein_coding | 4317 | chr19 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(980): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 114 | 0.0088 | 987 | c.56- others(1004): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(980): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0027 | 1 | 114 | 0.0088 | 987 | c.56- others(1004): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(980): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0042 | 1 | 114 | 0.0088 | 987 | c.56- others(1004): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186782 | G | GGGGAACA others(980): Show |
downstream_gene_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 350 | 0.0029 | 987 | c.*24 others(998): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2207 | chr16 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(980): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 330 | 0.0030 | 987 | c.-5+ others(1002): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(980): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0083 | 1 | 330 | 0.0030 | 987 | c.-5+ others(1002): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(980): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0281 | 1 | 330 | 0.0030 | 987 | c.-5+ others(1002): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(980): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0082 | 1 | 330 | 0.0030 | 987 | c.-5+ others(1002): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(980): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0293 | 1 | 330 | 0.0030 | 987 | c.-5+ others(1002): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79257562 | G | GTGGTGGT others(980): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0018a0001c0001t0008g0008 | 2 | 24 | 0.0833 | 987 | c.326 others(1010): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(980): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0022 | 1 | 178 | 0.0056 | 987 | c.773 others(1002): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDCD6_chr5_266646_319974 | 318187 | A | ACCCTGCA others(980): Show |
downstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 360 | 0.0028 | 987 | c.*36 others(998): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3214 | chr5 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(980): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 282 | 0.0036 | 987 | c.299 others(1002): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar |