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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPIRE2_chr16_89823475_89876319 | 89852489 | C | CACCCCCC others(773): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 356 | 0.0028 | 780 | c.646 others(797): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
TENM4_chr11_78647829_79446030 | 79139275 | T | TATATATT others(773): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0017 | a0002c0017t0012 | a0002c0017t0012g0062 | 1 | 94 | 0.0106 | 780 | c.-66 others(797): Show |
TENM4 | ENSG00000149256.16 | transcript | ENST00000278550.12 | protein_coding | 4/33 | chr11 | TogoVar | ||||||
TGM2_chr20_38122385_38170270 | 38124003 | C | CTATTATA others(773): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 360 | 0.0028 | 780 | c.*62 others(791): Show |
TGM2 | ENSG00000198959.12 | transcript | ENST00000361475.7 | protein_coding | 3381 | chr20 | TogoVar | ||||||
TM4SF19_chr3_196318547_196343388 | 196335076 | A | ACTGGGAG others(773): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 370 | 0.0027 | 780 | c.-2+ others(795): Show |
TM4SF19 | ENSG00000145107.16 | transcript | ENST00000273695.4 | protein_coding | 1/4 | chr3 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311083 | C | CCTGGCCT others(773): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0024others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0022others(23): Show | 27 | 344 | 0.0785 | 780 | c.327 others(797): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311083 | C | CCTGGCCT others(773): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 344 | 0.0029 | 780 | c.327 others(797): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312749 | G | GCTTCATC others(773): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02922.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0070a0001c0001t0007g0069a0001c0001t0007g0071others(2): Show | 5 | 344 | 0.0145 | 780 | c.327 others(797): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539204 | G | GGATTCTT others(773): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 402 | 0.0025 | 780 | c.-55 others(791): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4859 | chr19 | TogoVar | ||||||
TRPM7_chr15_50552158_50691797 | 50564248 | A | AAAAATAA others(773): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0008 | 1 | 352 | 0.0028 | 780 | c.546 others(799): Show |
TRPM7 | ENSG00000092439.16 | transcript | ENST00000646667.1 | protein_coding | 38/38 | chr15 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028986 | A | ACTCGTAA others(773): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 224 | 0.0045 | 780 | c.225 others(799): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(773): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0139 | 1 | 238 | 0.0042 | 780 | c.392 others(797): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917219 | C | CGGGTGGG others(773): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 344 | 0.0029 | 780 | c.218 others(797): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZBTB8A_chr1_32534427_32610941 | 32581182 | T | TTATATAT others(773): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0081 | a0001c0001t0081g0289 | 1 | 302 | 0.0033 | 780 | c.-1- others(797): Show |
ZBTB8A | ENSG00000160062.15 | transcript | ENST00000373510.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(774): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 337 | 0.0030 | 781 | c.61+ others(796): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(774): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0050 | 1 | 337 | 0.0030 | 781 | c.61+ others(796): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(774): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0066 | 1 | 337 | 0.0030 | 781 | c.61+ others(796): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(774): Show |
intron_variant | MODIFIER | HG02071.hp1 NA18979.hp2 NA19070.hp1 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0033a0001c0010t0001 | a0001c0001t0004g0263a0001c0001t0033g0264a0001c0010t0001g0139 | 3 | 337 | 0.0089 | 781 | c.61+ others(796): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126251636 | T | TGATGGGA others(774): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0135 | 1 | 252 | 0.0040 | 781 | c.260 others(800): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
ADAM12_chr10_126007391_126393477 | 126251636 | T | TGATGGGA others(774): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
a0001a0002a0009others(1): Show | a0001c0002a0001c0003a0001c0020others(4): Show | a0001c0002t0008a0001c0003t0013a0001c0020t0021others(5): Show | a0001c0002t0008g0201a0001c0003t0013g0183a0001c0020t0021g0174others(6): Show | 9 | 252 | 0.0357 | 781 | c.260 others(800): Show |
ADAM12 | ENSG00000148848.15 | transcript | ENST00000448723.2 | protein_coding | 3/22 | chr10 | TogoVar | ||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGAAA others(774): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 300 | 0.0033 | 781 | c.-70 others(790): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68641956 | T | TTGCACTC others(774): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp2 HG00642.hp1 others(40): Show |
a0001a0002 | a0001c0001a0001c0021a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0299a0001c0001t0002g0300a0001c0001t0002g0304others(40): Show | 43 | 338 | 0.1272 | 781 | c.-34 others(792): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 3353 | chr16 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COG3_chr13_45459939_45541701 | 45485412 | A | ACCCCCCC others(774): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 342 | 0.0029 | 781 | c.844 others(798): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45501033 | T | TGTGTGTT others(774): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0215 | 1 | 292 | 0.0034 | 781 | c.268 others(800): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588202 | A | ACCCACAG others(774): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0218 | 1 | 348 | 0.0029 | 781 | c.928 others(796): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DIP2C_chr10_269201_694668 | 478071 | A | AGAGAGGG others(774): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0035 | 1 | 88 | 0.0114 | 781 | c.158 others(798): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DISP3_chr1_11474155_11542551 | 11522750 | A | ACCCAGCC others(774): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0190 | 1 | 358 | 0.0028 | 781 | c.236 others(800): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(774): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 275 | 0.0036 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(774): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 275 | 0.0036 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(774): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01175.hp1 HG01175.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169a0002c0002t0001g0170a0002c0002t0001g0171others(1): Show | 4 | 275 | 0.0146 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992458 | C | CGGGGGGG others(774): Show |
intron_variant | MODIFIER | HG04115.hp1 HG04204.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024a0002c0002t0001g0172 | 2 | 275 | 0.0073 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(774): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0232 | 1 | 275 | 0.0036 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FMR1NB_chrX_147976337_148031665 | 147992469 | C | CCCCCCCC others(774): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 275 | 0.0036 | 781 | c.278 others(800): Show |
FMR1NB | ENSG00000176988.9 | transcript | ENST00000370467.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
FOXK2_chr17_82514732_82609602 | 82586209 | A | AGGGGAAT others(774): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0037 | 1 | 308 | 0.0033 | 781 | c.157 others(796): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46635516 | C | CCCCCGCC others(774): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 328 | 0.0031 | 781 | c.163 others(798): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GRAMD4_chr22_46615386_46684785 | 46635516 | C | CCCCCGCC others(774): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208a0001c0001t0003g0215 | 2 | 328 | 0.0061 | 781 | c.163 others(798): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(774): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 350 | 0.0029 | 781 | c.94- others(794): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAC others(774): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 323 | 0.0031 | 781 | c.-21 others(792): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79809205 | T | TCTGAGGA others(774): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 312 | 0.0032 | 781 | c.-11 others(802): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGCGAC others(774): Show |
upstream_gene_variant | MODIFIER | HG03834.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0340 | 1 | 375 | 0.0027 | 781 | c.-22 others(792): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349743 | G | GTGGGGGT others(774): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0075 | a0075c0110 | a0075c0110t0001 | a0075c0110t0001g0162 | 1 | 186 | 0.0054 | 781 | c.956 others(798): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360517 | G | GGGTGGAG others(774): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0083 | a0083c0130 | a0083c0130t0001 | a0083c0130t0001g0068 | 1 | 186 | 0.0054 | 781 | c.450 others(798): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360517 | G | GGGTGGAG others(774): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02976.hp2 |
a0013a0030 | a0013c0135a0030c0127 | a0013c0135t0001a0030c0127t0001 | a0013c0135t0001g0064a0030c0127t0001g0066 | 2 | 186 | 0.0108 | 781 | c.450 others(798): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(774): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0021 | 1 | 86 | 0.0116 | 781 | c.683 others(800): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |