| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SMYD3_chr1_245744347_246512279 | 245974619 | GTCTCCGG others(1289): Show |
G | intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0128 | 1 | 150 | 0.0067 | -1296 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| CACNA1B_chr9_137872782_138129619 | 138017897 | TCAGGTGC others(1288): Show |
T | intron_variant | MODIFIER | HG02486.hp2 NA20752.hp2 |
a0005 | a0005c0024 | a0005c0024t0011 | a0005c0024t0011g0160a0005c0024t0011g0162 | 2 | 248 | 0.0081 | -1295 | c.226 others(19): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RBM47_chr4_40418280_40634864 | 40480081 | GATTCTCC others(1288): Show |
G | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0167 | 1 | 278 | 0.0036 | -1295 | c.-15 others(21): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| TET1_chr10_68555337_68699487 | 68570293 | CGGGGTTT others(1288): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0004 | a0003c0004t0008 | a0003c0004t0008g0198 | 1 | 282 | 0.0036 | -1295 | c.-12 others(18): Show |
TET1 | ENSG00000138336.9 | transcript | ENST00000373644.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SPEM3_chr17_7423857_7437820 | 7433090 | GAGACCAG others(1287): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp1 others(12): Show |
a0003 | a0003c0003a0003c0024 | a0003c0003t0001a0003c0024t0001 | a0003c0003t0001g0001a0003c0024t0001g0001 | 15 | 354 | 0.0424 | -1294 | c.*32 others(10): Show |
SPEM3 | ENSG00000283439.4 | transcript | ENST00000636696.4 | protein_coding | 271 | chr17 | TogoVar | ||||||
| TMEM102_chr17_7430435_7442679 | 7433090 | GAGACCAG others(1287): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 15 | 362 | 0.0414 | -1294 | c.-26 others(11): Show |
TMEM102 | ENSG00000181284.3 | transcript | ENST00000323206.2 | protein_coding | 2344 | chr17 | TogoVar | ||||||
| ZNF439_chr19_11843726_11874486 | 11858616 | ACTTCTTT others(1287): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0099 | 1 | 320 | 0.0031 | -1294 | c.64- others(15): Show |
ZNF439 | ENSG00000171291.9 | transcript | ENST00000682736.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1237976 | GCCTCCCG others(1284): Show |
G | intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 106 | 0.0094 | -1291 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| TSPEAR_chr21_44492893_44716572 | 44568540 | TAAGCTCC others(1284): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 294 | 0.0034 | -1291 | c.83- others(14): Show |
TSPEAR | ENSG00000175894.18 | transcript | ENST00000323084.9 | protein_coding | 1/11 | chr21 | TogoVar | ||||||
| RPS6KA6_chrX_84053350_84193199 | 84191909 | TATATATA others(1283): Show |
T | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0210 | 1 | 272 | 0.0037 | -1290 | c.-53 others(11): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3711 | chrX | TogoVar | ||||||
| TLCD2_chr17_1697816_1715377 | 1703580 | TAATTTTT others(1283): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0053 | a0001c0002t0053g0200 | 1 | 451 | 0.0022 | -1290 | c.*29 others(11): Show |
TLCD2 | ENSG00000185561.10 | transcript | ENST00000330676.8 | protein_coding | 4/4 | 2900 | chr17 | TogoVar | |||||
| RAP1GAP2_chr17_2791438_3042741 | 2816634 | ACTGTGTT others(1282): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00609.hp1 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(57): Show | a0001c0001t0001g0134a0001c0001t0003g0091a0001c0001t0003g0097others(59): Show | 62 | 218 | 0.2844 | -1289 | c.80+ others(17): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| FRMPD4_chrX_12133473_12729523 | 12472895 | TATTATCC others(1281): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0025a0001c0001t0002g0024a0001c0001t0006g0014others(7): Show | 10 | 174 | 0.0575 | -1288 | c.42- others(17): Show |
FRMPD4 | ENSG00000169933.17 | transcript | ENST00000675598.1 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MAD1L1_chr7_1810795_2237945 | 1990888 | CGAGCACC others(1281): Show |
C | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0060 | 1 | 264 | 0.0038 | -1288 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| PISD_chr22_31613491_31667215 | 31641568 | GCTTTGGG others(1281): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0013a0001c0001t0015others(1): Show | a0001c0001t0008g0002a0001c0001t0008g0027a0001c0001t0008g0028others(6): Show | 10 | 328 | 0.0305 | -1288 | c.321 others(17): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | ||||||
| RD3_chr1_211471522_211497162 | 211482088 | GGTGCATG others(1281): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03130.hp1 HG03195.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0033a0003c0003t0058a0003c0003t0065 | a0003c0003t0033g0052a0003c0003t0058g0152a0003c0003t0065g0191 | 4 | 416 | 0.0096 | -1288 | c.-11 others(16): Show |
RD3 | ENSG00000198570.7 | transcript | ENST00000680073.1 | protein_coding | 1/2 | chr1 | TogoVar | ||||||
| TAFAZZIN_chrX_154406539_154426726 | 154406752 | CTCCTGCC others(1281): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 1 | 285 | 0.0035 | -1288 | c.-50 others(11): Show |
TAFAZZIN | ENSG00000102125.17 | transcript | ENST00000601016.6 | protein_coding | 4786 | chrX | TogoVar | ||||||
| TMEM132D_chr12_129066726_129909025 | 129088258 | GGGTGTCC others(1281): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp1 HG01106.hp2 others(9): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0016a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0018a0001c0001t0002g0026a0001c0001t0002g0053others(9): Show | 12 | 94 | 0.1277 | -1288 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| DISP1_chr1_222810039_223010995 | 222811332 | TGGAGATC others(1280): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 348 | 0.0029 | -1287 | c.-39 others(11): Show |
DISP1 | ENSG00000154309.9 | transcript | ENST00000675850.1 | protein_coding | 3706 | chr1 | TogoVar | ||||||
| CFAP97D2_chr13_114174257_114228085 | 114225119 | TTAATTGA others(1279): Show |
T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0008 | a0001c0001t0005g0015a0001c0001t0005g0016a0001c0001t0005g0036others(25): Show | 30 | 400 | 0.0750 | -1286 | c.*26 others(11): Show |
CFAP97D2 | ENSG00000283361.3 | transcript | ENST00000636692.2 | protein_coding | 2035 | chr13 | TogoVar | ||||||
| GALNTL5_chr7_151951446_152024929 | 151979589 | GGCTGGGA others(1279): Show |
G | intron_variant | MODIFIER | HG01943.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0102 | 1 | 384 | 0.0026 | -1286 | c.369 others(17): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UBXN6_chr19_4440006_4462794 | 4458605 | GCCTGTAA others(1279): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 420 | 0.0024 | -1286 | c.-21 others(10): Show |
UBXN6 | ENSG00000167671.12 | transcript | ENST00000301281.11 | protein_coding | 812 | chr19 | TogoVar | ||||||
| ZNF512B_chr20_63951704_63974930 | 63964794 | ACCCTGAC others(1279): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0154 | 1 | 356 | 0.0028 | -1286 | c.103 others(15): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar | ||||||
| DNAJC8_chr1_28195278_28238029 | 28217488 | CGCATGAA others(1278): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0188a0001c0001t0002g0189a0001c0001t0002g0190 | 3 | 250 | 0.0120 | -1285 | c.181 others(17): Show |
DNAJC8 | ENSG00000126698.11 | transcript | ENST00000263697.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
| CDA_chr1_20584097_20623903 | 20611574 | TCCCACCA others(1277): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0041 | 2 | 418 | 0.0048 | -1284 | c.267 others(16): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ANK1_chr8_41648225_41802622 | 41683253 | GCACGATA others(1276): Show |
G | splice_region_variant others(1): Show |
LOW | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 278 | 0.0036 | -1283 | c.453 others(16): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | ||||||
| KCTD16_chr5_144165873_144490686 | 144327974 | GTTTATTT others(1276): Show |
G | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0037 | 1 | 156 | 0.0064 | -1283 | c.832 others(21): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| OPN1LW_chrX_154139243_154164032 | 154148213 | TACTCCAG others(1276): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp1 others(14): Show |
a0007a0010a0017others(6): Show | a0007c0014a0007c0035a0007c0041others(10): Show | a0007c0014t0001a0007c0014t0009a0007c0035t0006others(11): Show | a0007c0014t0001g0137a0007c0014t0001g0138a0007c0014t0009g0136others(14): Show | 17 | 258 | 0.0659 | -1283 | c.113 others(17): Show |
OPN1LW | ENSG00000102076.10 | transcript | ENST00000369951.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| SPDYE21_chr7_67271941_67294005 | 67290330 | TATTTTTA others(1276): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG01256.hp2 HG01496.hp2 others(15): Show |
a0005 | a0005c0005 | a0005c0005t0004a0005c0005t0012a0005c0005t0018 | a0005c0005t0004g0009a0005c0005t0004g0024a0005c0005t0004g0056others(5): Show | 18 | 460 | 0.0391 | -1283 | c.*28 others(11): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 1326 | chr7 | TogoVar | ||||||
| AMBRA1_chr11_46391414_46599023 | 46550829 | GTAATCCC others(1275): Show |
G | intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 160 | 0.0063 | -1282 | c.-12 others(19): Show |
AMBRA1 | ENSG00000110497.15 | transcript | ENST00000683756.1 | protein_coding | 1/17 | chr11 | TogoVar | ||||||
| ELFN1_chr7_1665277_1752946 | 1741855 | AGACAGGG others(1275): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0017 | 1 | 302 | 0.0033 | -1282 | c.-29 others(19): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| FOXN3_chr14_89151177_89422233 | 89360754 | CCACCTCC others(1275): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 230 | 0.0044 | -1282 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| IQSEC2_chrX_53227876_53326350 | 53289892 | ATCAGGGA others(1275): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 213 | 0.0047 | -1282 | c.737 others(16): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 2/14 | chrX | TogoVar | ||||||
| RPH3AL_chr17_207389_357807 | 287555 | TCTCTCCA others(1275): Show |
T | intron_variant | MODIFIER | HG02148.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0054 | 1 | 133 | 0.0075 | -1282 | c.352 others(17): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76392951 | GGGGAAGG others(1275): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG02818.hp1 HG02896.hp1 others(3): Show |
a0001a0015 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0178a0001c0002t0128others(3): Show | a0001c0001t0001g0157a0001c0001t0178g0093a0001c0002t0128g0041others(3): Show | 6 | 346 | 0.0173 | -1282 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| LOC400499_chr16_11367015_11532247 | 11509886 | ATGTATCT others(1274): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00741.hp2 others(7): Show |
a0025a0245a0246others(6): Show | a0025c0020a0245c0052a0246c0051others(6): Show | a0025c0020t0003a0245c0052t0003a0246c0051t0006others(6): Show | a0025c0020t0003g0088a0025c0020t0003g0089a0245c0052t0003g0037others(7): Show | 10 | 310 | 0.0323 | -1281 | c.836 others(17): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 7/66 | chr16 | TogoVar | ||||||
| ANO7_chr2_241183677_241230976 | 241205290 | TCAGGAGT others(1273): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0349 | 1 | 396 | 0.0025 | -1280 | c.980 others(15): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CDH4_chr20_61247261_61945617 | 61943184 | CTCTCACC others(1273): Show |
C | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0004 | a0002c0004t0027 | a0002c0004t0027g0098 | 1 | 106 | 0.0094 | -1280 | c.*62 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2568 | chr20 | TogoVar | ||||||
| CTCFL_chr20_57492166_57530140 | 57504178 | GTGTTAGC others(1273): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0127 | 1 | 424 | 0.0024 | -1280 | c.167 others(18): Show |
CTCFL | ENSG00000124092.13 | transcript | ENST00000243914.8 | protein_coding | 9/10 | chr20 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132160250 | ACTGTGTG others(1273): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0005 | a0002c0005t0011 | a0002c0005t0011g0096 | 1 | 158 | 0.0063 | -1280 | c.222 others(19): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DACT2_chr6_168301904_168324777 | 168316331 | CTGGTGCA others(1272): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00673.hp1 others(74): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0028a0001c0001t0001g0051others(46): Show | 77 | 476 | 0.1618 | -1279 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| ILDR2_chr1_166903187_166980540 | 166944115 | CGGATTAA others(1272): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0101 | 1 | 342 | 0.0029 | -1279 | c.500 others(17): Show |
ILDR2 | ENSG00000143195.13 | transcript | ENST00000271417.8 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
| KSR2_chr12_117448012_117973990 | 117957584 | AAGCCCAG others(1272): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0004 | a0004c0016 | a0004c0016t0008 | a0004c0016t0008g0099 | 1 | 196 | 0.0051 | -1279 | c.180 others(18): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| SRGAP2B_chr1_144882288_145100328 | 144882434 | GGGGGGGC others(1272): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0043 | 1 | 56 | 0.0179 | -1279 | c.*84 others(11): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4853 | chr1 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316706 | TGTGTGTA others(1271): Show |
T | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 476 | 0.0021 | -1278 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316789 | GCATCTCG others(1271): Show |
G | intron_variant | MODIFIER | HG02135.hp2 NA19076.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0241a0002c0002t0005g0260 | 2 | 476 | 0.0042 | -1278 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943434 | CTCTCACC others(1270): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp1 HG02809.hp1 HG02895.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0028a0001c0006t0049 | a0001c0001t0002g0088a0001c0001t0028g0016a0001c0006t0049g0071 | 3 | 106 | 0.0283 | -1277 | c.*64 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2818 | chr20 | TogoVar | ||||||
| NGEF_chr2_232873701_233018256 | 232962335 | AAGACCAG others(1270): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0004 | a0001c0004t0024 | a0001c0004t0024g0010 | 1 | 362 | 0.0028 | -1277 | c.383 others(17): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 3/14 | chr2 | TogoVar | ||||||
| PTPRA_chr20_2868481_3043669 | 2924255 | AGCTGAGT others(1270): Show |
A | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0193 | 1 | 356 | 0.0028 | -1277 | c.-50 others(17): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ZNF512B_chr20_63951704_63974930 | 63964836 | TTCCCCGA others(1270): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00642.hp1 others(79): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0002c0004others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0013others(10): Show | a0001c0002t0002g0058a0001c0002t0003g0003a0001c0002t0003g0011others(32): Show | 82 | 356 | 0.2303 | -1277 | c.103 others(16): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 5/16 | chr20 | TogoVar |