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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA6_chr1_48290373_48477204 | 48384406 | G | GGAGAGGG others(524): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 322 | 0.0031 | 531 | c.909 others(546): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(524): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 251 | 0.0040 | 531 | c.*34 others(540): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | ||||||
SPPL2B_chr19_2323684_2360095 | 2349340 | C | CTCTCTCT others(524): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223a0001c0001t0002g0232a0001c0001t0002g0241others(1): Show | 4 | 414 | 0.0097 | 531 | c.135 others(550): Show |
SPPL2B | ENSG00000005206.17 | transcript | ENST00000613503.5 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1276019 | G | GAAAACCA others(524): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03471.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0019 | a0001c0001t0001a0001c0001t0002a0001c0019t0001 | a0001c0001t0001g0311a0001c0001t0002g0253a0001c0001t0002g0310others(1): Show | 4 | 392 | 0.0102 | 531 | c.228 others(550): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM202_chr15_72393305_72413367 | 72396769 | T | TGGGGGGT others(524): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 531 | c.-15 others(542): Show |
TMEM202 | ENSG00000187806.9 | transcript | ENST00000341689.4 | protein_coding | 1535 | chr15 | TogoVar | ||||||
TMEM202_chr15_72393305_72413367 | 72396769 | T | TGGGGGGT others(524): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 531 | c.-15 others(542): Show |
TMEM202 | ENSG00000187806.9 | transcript | ENST00000341689.4 | protein_coding | 1535 | chr15 | TogoVar | ||||||
TMEM239_chr20_2811364_2823062 | 2823000 | G | GTCTCCCT others(524): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 400 | 0.0025 | 531 | c.*59 others(542): Show |
TMEM239 | ENSG00000198326.10 | transcript | ENST00000380585.2 | protein_coding | 4939 | chr20 | TogoVar | ||||||
TMPRSS9_chr19_2355265_2431261 | 2377592 | C | CTCTCCCC others(524): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0037 | 1 | 114 | 0.0088 | 531 | c.-25 others(550): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TOX_chr8_58800412_59124147 | 59092275 | A | ATATTATA others(524): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 224 | 0.0045 | 531 | c.102 others(550): Show |
TOX | ENSG00000198846.6 | transcript | ENST00000361421.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507507 | G | GTATTATA others(524): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0074 | 1 | 388 | 0.0026 | 531 | c.-23 others(548): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(524): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 338 | 0.0030 | 531 | c.*35 others(550): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
UMAD1_chr7_7635752_7884223 | 7679092 | T | TATAAATA others(524): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0004 | a0001c0004t0041 | a0001c0004t0041g0210 | 1 | 250 | 0.0040 | 531 | c.82+ others(546): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(524): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02129.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038a0001c0001t0001g0060a0001c0001t0002g0015others(1): Show | 4 | 64 | 0.0625 | 531 | c.104 others(550): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
UNC5D_chr8_35230475_35801540 | 35509498 | T | TCTCCTCT others(524): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0010a0001c0002t0009a0001c0004t0022 | a0001c0001t0010g0064a0001c0002t0009g0063a0001c0004t0022g0050 | 3 | 64 | 0.0469 | 531 | c.104 others(550): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
VWA2_chr10_114234254_114299489 | 114253198 | T | TCCTCTCC others(524): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 246 | 0.0041 | 531 | c.53- others(544): Show |
VWA2 | ENSG00000165816.13 | transcript | ENST00000392982.8 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(524): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 350 | 0.0029 | 531 | c.-35 others(542): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613123 | C | CCCTCCCC others(524): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 322 | 0.0031 | 531 | c.4-1 others(544): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(525): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02074.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0078a0001c0001t0001g0160a0001c0001t0001g0275others(1): Show | 4 | 306 | 0.0131 | 532 | c.130 others(551): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975544 | T | TATAAATA others(525): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 306 | 0.0033 | 532 | c.130 others(551): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCC1_chr16_15944616_16148053 | 15999866 | C | CCTTCCTT others(525): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 249 | 0.0040 | 532 | c.49- others(547): Show |
ABCC1 | ENSG00000103222.20 | transcript | ENST00000399410.8 | protein_coding | 1/30 | chr16 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88110829 | G | GCCTCCCA others(525): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01515.hp2 HG01517.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0002a0007c0007t0003 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0218others(3): Show | 6 | 230 | 0.0261 | 532 | c.473 others(549): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADGRE3_chr19_14614117_14679844 | 14620388 | A | ACATGTAT others(525): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0348a0004c0004t0001g0349 | 2 | 372 | 0.0054 | 532 | c.192 others(549): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581451 | T | TACGTGTA others(525): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0134 | 1 | 169 | 0.0059 | 532 | c.48- others(549): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGAP39_chr8_144524179_144690846 | 144687228 | C | CCCCCGTG others(525): Show |
upstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 246 | 0.0041 | 532 | c.-16 others(543): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1383 | chr8 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144687735 | A | ACACTGGC others(525): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0121a0001c0001t0008g0166 | 2 | 246 | 0.0081 | 532 | c.-21 others(543): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1890 | chr8 | TogoVar | ||||||
ARSF_chrX_3036471_3117727 | 3036936 | T | TATATATA others(525): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0014a0001c0009t0001g0015 | 2 | 193 | 0.0104 | 532 | c.-47 others(543): Show |
ARSF | ENSG00000062096.15 | transcript | ENST00000381127.6 | protein_coding | 4534 | chrX | TogoVar | ||||||
ARSH_chrX_3001546_3039111 | 3036936 | T | TATATATA others(525): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0013 | 2 | 248 | 0.0081 | 532 | c.*35 others(543): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2826 | chrX | TogoVar | ||||||
ASMTL_chrX_1398139_1457909 | 1453738 | T | TGCCTGGT others(525): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 185 | 0.0054 | 532 | c.-89 others(541): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 830 | chrX | TogoVar | ||||||
ATG7_chr3_11267397_11562665 | 11487507 | A | AGAGGGGC others(525): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 292 | 0.0034 | 532 | c.207 others(553): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487507 | A | AGAGGGGC others(525): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 292 | 0.0034 | 532 | c.207 others(553): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ATG7_chr3_11267397_11562665 | 11487507 | A | AGAGGGGC others(525): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 292 | 0.0034 | 532 | c.207 others(553): Show |
ATG7 | ENSG00000197548.13 | transcript | ENST00000693202.1 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AZU1_chr19_822837_837018 | 835481 | T | TGCGGCCC others(525): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 391 | 0.0026 | 532 | c.*36 others(543): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
BOK_chr2_241553745_241579131 | 241571050 | A | ATGGGTGA others(525): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02965.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0167a0001c0001t0012g0185a0001c0001t0012g0194 | 3 | 434 | 0.0069 | 532 | c.513 others(547): Show |
BOK | ENSG00000176720.6 | transcript | ENST00000318407.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BRD3OS_chr9_134020481_134036587 | 134025279 | C | CTCCCAGC others(525): Show |
upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | 532 | c.-10 others(543): Show |
BRD3OS | ENSG00000235106.10 | transcript | ENST00000603928.3 | protein_coding | 201 | chr9 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126672434 | G | GCAGGACT others(525): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0040a0001c0001t0001g0046a0001c0001t0001g0047others(21): Show | 24 | 218 | 0.1101 | 532 | c.-19 others(543): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 1742 | chr10 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126672875 | C | CCCGAGAC others(525): Show |
upstream_gene_variant | MODIFIER | HG03041.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0024a0002c0004t0001g0030 | 2 | 218 | 0.0092 | 532 | c.-23 others(543): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2183 | chr10 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092976 | C | CGTGCACA others(525): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0133 | 1 | 396 | 0.0025 | 532 | c.*4+ others(545): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279126 | G | GGGACGGA others(525): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 410 | 0.0024 | 532 | c.465 others(545): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539501 | C | CTTCATAA others(525): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0032 | 1 | 104 | 0.0096 | 532 | c.139 others(553): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1186057 | G | GGTCAGCG others(525): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 338 | 0.0030 | 532 | c.300 others(549): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC88A_chr2_55282842_55424856 | 55384560 | C | CATATATA others(525): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0289 | 1 | 316 | 0.0032 | 532 | c.273 others(549): Show |
CCDC88A | ENSG00000115355.18 | transcript | ENST00000436346.7 | protein_coding | 3/32 | chr2 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293567 | G | GGCCCACC others(525): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0273 | 1 | 284 | 0.0035 | 532 | c.411 others(549): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | ||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 396 | 0.0025 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(6): Show | a0001c0001t0001g0044a0001c0001t0001g0085a0001c0001t0001g0203others(41): Show | 46 | 396 | 0.1162 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(49): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0028a0001c0001t0001g0090a0001c0001t0001g0148others(48): Show | 52 | 396 | 0.1313 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0303a0001c0001t0002g0201 | 2 | 396 | 0.0051 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 | 1 | 396 | 0.0025 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(525): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0015 | a0001c0015t0002 | a0001c0015t0002g0295 | 1 | 396 | 0.0025 | 532 | c.349 others(547): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CDC42SE2_chr5_131259053_131399672 | 131278741 | C | CCCCCTCC others(525): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 256 | 0.0039 | 532 | c.-45 others(553): Show |
CDC42SE2 | ENSG00000158985.14 | transcript | ENST00000505065.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CDH8_chr16_61642250_62041438 | 61960228 | C | CATACATA others(525): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0041 | 1 | 168 | 0.0060 | 532 | c.253 others(551): Show |
CDH8 | ENSG00000150394.14 | transcript | ENST00000577390.6 | protein_coding | 2/11 | chr16 | TogoVar |