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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MTFR1L_chr1_25814954_25837938 | 25822448 | TCTTTAGA others(319): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0007 | a0001c0001t0003g0010a0002c0002t0007g0020a0002c0002t0007g0032others(1): Show | 13 | 402 | 0.0323 | -326 | c.-86 others(15): Show |
MTFR1L | ENSG00000117640.18 | transcript | ENST00000374303.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NAV1_chr1_201534127_201831969 | 201689948 | GTGGCCTG others(319): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0201 | 1 | 210 | 0.0048 | -326 | c.161 others(21): Show |
NAV1 | ENSG00000134369.16 | transcript | ENST00000685211.1 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NEDD4L_chr18_58039226_58406539 | 58134345 | AGCAATTC others(319): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00673.hp1 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0034others(106): Show | 109 | 118 | 0.9237 | -326 | c.49- others(17): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
NFATC1_chr18_79390930_79534323 | 79521517 | TGGGGAGC others(319): Show |
T | intron_variant | MODIFIER | HG02027.hp1 NA18962.hp2 NA18980.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0013 | a0002c0002t0001g0215a0002c0002t0003g0187a0002c0002t0013g0159others(1): Show | 4 | 322 | 0.0124 | -326 | c.278 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
P2RX5_chr17_3668227_3701155 | 3686877 | GGGGCCCC others(319): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0027 | 1 | 362 | 0.0028 | -326 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3687016 | GCCCCCAG others(319): Show |
G | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 362 | 0.0028 | -326 | c.981 others(15): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
PAN3_chr13_28133545_28300335 | 28265719 | GTTTTTTT others(319): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG01069.hp2 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0213a0001c0001t0002g0002a0001c0001t0002g0010others(64): Show | 67 | 252 | 0.2659 | -326 | c.141 others(17): Show |
PAN3 | ENSG00000152520.14 | transcript | ENST00000380958.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PDE11A_chr2_177618244_178077777 | 177946507 | GGGGGGGG others(319): Show |
G | intron_variant | MODIFIER | HG03688.hp1 HG03704.hp1 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0007 | a0001c0003t0003g0121a0001c0003t0007g0126 | 2 | 170 | 0.0118 | -326 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51652551 | TTATCTCT others(319): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00738.hp1 others(128): Show |
a0001a0002a0003others(45): Show | a0001c0001a0001c0002a0001c0009others(91): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(99): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0058others(128): Show | 131 | 134 | 0.9776 | -326 | c.111 others(21): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 61/66 | chr6 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75538304 | AGGCCAGC others(319): Show |
A | intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 | 1 | 326 | 0.0031 | -326 | c.64- others(17): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 300104 | GCCCGCAG others(319): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 133 | 0.0075 | -326 | c.352 others(19): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3174189 | CCCCTCAT others(319): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -326 | c.-46 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4579 | chr19 | TogoVar | ||||||
SELENON_chr1_25795193_25823221 | 25822448 | TCTTTAGA others(319): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0035a0001c0002t0008a0001c0002t0027others(4): Show | a0001c0001t0035g0009a0001c0002t0008g0103a0001c0002t0008g0131others(10): Show | 13 | 392 | 0.0332 | -326 | c.*67 others(11): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 4228 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | |||||
SEMA3A_chr7_83950777_84199789 | 84080545 | TGCAGCTT others(319): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00544.hp1 others(260): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(57): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0032others(260): Show | 263 | 276 | 0.9529 | -326 | c.454 others(19): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | ||||||
TCOF1_chr5_150352697_150405293 | 150366628 | GCAACATT others(319): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(227): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0021a0002c0002others(23): Show | a0001c0001t0001a0001c0001t0008a0001c0021t0001others(28): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(174): Show | 230 | 362 | 0.6354 | -326 | c.305 others(16): Show |
TCOF1 | ENSG00000070814.22 | transcript | ENST00000643257.2 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
TERB1_chr16_66749640_66806584 | 66760741 | ACGACTGC others(319): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0191 | 1 | 352 | 0.0028 | -326 | c.178 others(19): Show |
TERB1 | ENSG00000249961.10 | transcript | ENST00000433154.6 | protein_coding | 16/18 | chr16 | TogoVar | ||||||
THBS3_chr1_155190588_155212897 | 155190775 | GGGCGGTG others(319): Show |
G | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 298 | 0.0034 | -326 | c.*47 others(11): Show |
THBS3 | ENSG00000169231.13 | transcript | ENST00000368378.7 | protein_coding | 4812 | chr1 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747647 | CGGGAGGC others(319): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0122a0001c0001t0020g0126 | 2 | 314 | 0.0064 | -326 | c.189 others(15): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM132B_chr12_125181386_125667369 | 125467948 | TTTTTATG others(319): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0082 | 1 | 128 | 0.0078 | -326 | c.110 others(21): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TRPM2_chr21_44348621_44447644 | 44430402 | TGAGCAAG others(319): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp1 HG01099.hp1 others(26): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0006a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(26): Show | 29 | 44 | 0.6591 | -326 | c.397 others(19): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
TUBGCP4_chr15_43366101_43414771 | 43368229 | TAAAGAAT others(319): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(212): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(50): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(196): Show | 215 | 336 | 0.6399 | -326 | c.-31 others(11): Show |
TUBGCP4 | ENSG00000137822.13 | transcript | ENST00000564079.6 | protein_coding | 2871 | chr15 | TogoVar | ||||||
UFSP2_chr4_185394537_185430964 | 185427668 | GAGAATTC others(319): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp1 HG01081.hp2 others(15): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0002a0001c0001t0009a0001c0001t0014others(1): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0041others(8): Show | 18 | 300 | 0.0600 | -326 | c.-21 others(11): Show |
UFSP2 | ENSG00000109775.11 | transcript | ENST00000264689.11 | protein_coding | 1705 | chr4 | TogoVar | ||||||
UTRN_chr6_144280335_144858034 | 144806555 | TGCTATTA others(319): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01255.hp2 others(18): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0009a0001c0001t0025a0001c0002t0021others(14): Show | a0001c0001t0009g0009a0001c0001t0025g0115a0001c0002t0021g0050others(18): Show | 21 | 128 | 0.1641 | -326 | c.935 others(19): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 65/74 | chr6 | TogoVar | ||||||
WBP1L_chr10_102738948_102821262 | 102768362 | TAGTTTTT others(319): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0298 | 1 | 360 | 0.0028 | -326 | c.90+ others(17): Show |
WBP1L | ENSG00000166272.18 | transcript | ENST00000448841.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
WDR5B_chr3_122406846_122421062 | 122419595 | TAGAAATG others(319): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(264): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0004g0000others(12): Show | 267 | 466 | 0.5730 | -326 | c.-43 others(11): Show |
WDR5B | ENSG00000196981.4 | transcript | ENST00000330689.6 | protein_coding | 3534 | chr3 | TogoVar | ||||||
ZC3H12C_chr11_110088392_110176841 | 110105974 | GAAAAGTT others(319): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(288): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0027others(260): Show | 291 | 364 | 0.7995 | -326 | c.21+ others(17): Show |
ZC3H12C | ENSG00000149289.11 | transcript | ENST00000278590.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ZFPM2_chr8_105313438_105809539 | 105691220 | TCCCAAAG others(319): Show |
T | intron_variant | MODIFIER | HG01074.hp1 HG01257.hp1 HG01884.hp1 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0003t0002others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0057a0001c0001t0001g0073others(7): Show | 10 | 92 | 0.1087 | -326 | c.532 others(19): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZNF589_chr3_48236104_48275990 | 48239134 | AACCAACC others(319): Show |
A | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0038 | 1 | 304 | 0.0033 | -326 | c.-20 others(11): Show |
ZNF589 | ENSG00000164048.14 | transcript | ENST00000354698.8 | protein_coding | 1969 | chr3 | TogoVar | ||||||
ZSCAN29_chr15_43353175_43376043 | 43368229 | TAAAGAAT others(319): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(224): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0013a0001c0015others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0001a0001c0001t0002g0021a0001c0001t0002g0120others(52): Show | 227 | 394 | 0.5761 | -326 | c.523 others(15): Show |
ZSCAN29 | ENSG00000140265.14 | transcript | ENST00000684362.1 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34227793 | GGCATGAT others(318): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02145.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0004t0003others(13): Show | a0001c0001t0001g0084a0001c0001t0019g0021a0001c0004t0003g0175others(13): Show | 16 | 246 | 0.0650 | -325 | c.884 others(19): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ABTB2_chr11_34145987_34363010 | 34227828 | GGGTTCAA others(318): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(118): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0009others(118): Show | 121 | 246 | 0.4919 | -325 | c.884 others(19): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
ASMT_chrX_1610059_1648081 | 1637041 | ATCCTGAT others(318): Show |
A | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 223 | 0.0045 | -325 | c.910 others(15): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112863463 | GCAGTAAT others(318): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00642.hp2 others(47): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0021a0001c0001t0022others(23): Show | a0001c0001t0001g0024a0001c0001t0001g0065a0001c0001t0001g0085others(47): Show | 50 | 254 | 0.1969 | -325 | c.299 others(18): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
BLOC1S5_chr6_8008567_8069389 | 8022558 | TTCAAACT others(318): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0203a0001c0001t0005g0204others(11): Show | 15 | 364 | 0.0412 | -325 | c.384 others(17): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112857065 | AATGTTCT others(318): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0008 | a0001c0002t0003g0035a0001c0002t0008g0002a0001c0002t0008g0034others(2): Show | 6 | 206 | 0.0291 | -325 | c.474 others(19): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73446429 | GAAAAAAA others(318): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0006others(11): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(55): Show | a0001c0002t0002g0001a0001c0002t0002g0002a0001c0002t0002g0024others(233): Show | 273 | 410 | 0.6659 | -325 | c.658 others(16): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110355485 | GGGGGAGG others(318): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0111 | a0002c0111t0015 | a0002c0111t0015g0368 | 1 | 372 | 0.0027 | -325 | c.100 others(17): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3795681 | TCATGTAT others(318): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0033 | a0033c0042 | a0033c0042t0004 | a0033c0042t0004g0004 | 1 | 126 | 0.0079 | -325 | c.819 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64340979 | TAATTTTT others(318): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(139): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(139): Show | 142 | 176 | 0.8068 | -325 | c.-22 others(21): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 1/11 | chr15 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90008367 | GCCTCAGC others(318): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057a0001c0001t0008g0058 | 2 | 412 | 0.0049 | -325 | c.319 others(14): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
DCP1B_chr12_1941053_2009457 | 1958630 | GACAGGGG others(318): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 HG02976.hp1 others(1): Show |
a0002a0015 | a0002c0002a0015c0012 | a0002c0002t0001a0015c0012t0001 | a0002c0002t0001g0024a0002c0002t0001g0157a0015c0012t0001g0156 | 4 | 378 | 0.0106 | -325 | c.523 others(17): Show |
DCP1B | ENSG00000151065.14 | transcript | ENST00000280665.11 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 782435 | CATCTTCC others(318): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02615.hp2 HG03225.hp2 others(2): Show |
a0003a0005 | a0003c0003a0003c0012a0005c0007 | a0003c0003t0001a0003c0012t0004a0005c0007t0001 | a0003c0003t0001g0111a0003c0003t0001g0192a0003c0003t0001g0339others(2): Show | 5 | 378 | 0.0132 | -325 | c.243 others(19): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EDARADD_chr1_236389286_236489930 | 236431625 | TAAGACCC others(318): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp2 others(76): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0063a0001c0001t0001g0081a0001c0001t0001g0086others(76): Show | 79 | 294 | 0.2687 | -325 | c.219 others(17): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EXOC3L4_chr14_103089725_103115559 | 103109290 | CCCTCCCT others(318): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0134 | 1 | 404 | 0.0025 | -325 | c.197 others(17): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241805674 | CCCCCCTC others(318): Show |
C | downstream_gene_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0157 | 1 | 314 | 0.0032 | -325 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1388 | chr2 | TogoVar | ||||||
GSPT1_chr16_11863128_11920956 | 11908462 | TAAAAATA others(318): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp2 others(227): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0013a0001c0014others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(38): Show | a0001c0001t0001g0146a0001c0001t0001g0157a0001c0001t0001g0158others(224): Show | 230 | 372 | 0.6183 | -325 | c.352 others(17): Show |
GSPT1 | ENSG00000103342.13 | transcript | ENST00000434724.7 | protein_coding | 1/14 | chr16 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41778847 | CTTGCAGT others(318): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0178 | 1 | 410 | 0.0024 | -325 | c.-8- others(15): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
KLC4_chr6_43054631_43080093 | 43067794 | CAAAAAAA others(318): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(118): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0009others(45): Show | 121 | 342 | 0.3538 | -325 | c.879 others(16): Show |
KLC4 | ENSG00000137171.15 | transcript | ENST00000347162.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LIPG_chr18_49557057_49604185 | 49577619 | CGGACGGG others(318): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp2 others(60): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(29): Show | a0001c0001t0003g0041a0001c0001t0006g0034a0001c0001t0006g0037others(59): Show | 63 | 384 | 0.1641 | -325 | c.793 others(17): Show |
LIPG | ENSG00000101670.12 | transcript | ENST00000261292.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LMF1_chr16_848634_975984 | 903337 | GGGACGCC others(318): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0046 | a0007c0046t0004 | a0007c0046t0004g0036 | 1 | 294 | 0.0034 | -325 | c.663 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 4/10 | chr16 | TogoVar |