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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(831): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 344 | 0.0029 | 838 | c.617 others(855): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
FER_chr5_108742897_109201841 | 108930372 | T | TTCCCTCC others(831): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0138 | 1 | 138 | 0.0073 | 838 | c.123 others(859): Show |
FER | ENSG00000151422.14 | transcript | ENST00000281092.9 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
FHIT_chr3_59742277_61256452 | 60551561 | G | GGAGGGGA others(831): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0017 | 1 | 46 | 0.0217 | 838 | c.-17 others(857): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(831): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 46 | 0.0217 | 838 | c.-17 others(857): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0158a0001c0003t0006g0159a0001c0003t0006g0160others(2): Show | 5 | 340 | 0.0147 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01081.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0038 | a0001c0002t0003g0004a0001c0002t0003g0005a0001c0002t0003g0123others(28): Show | 31 | 340 | 0.0912 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0016 | a0001c0016t0037 | a0001c0016t0037g0152 | 1 | 340 | 0.0029 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03710.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0026 | a0001c0003t0006g0163a0001c0003t0026g0118 | 2 | 340 | 0.0059 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02615.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0006a0001c0001t0004g0007a0001c0001t0004g0008others(4): Show | 7 | 340 | 0.0206 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0002a0001c0001t0009g0003 | 3 | 340 | 0.0088 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(119): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0017a0001c0001t0001g0045a0001c0001t0001g0270others(119): Show | 122 | 340 | 0.3588 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(157): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0005a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0178others(157): Show | 160 | 340 | 0.4706 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125265636 | C | CTCCTGAC others(831): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115a0001c0001t0002g0116 | 2 | 340 | 0.0059 | 838 | c.-19 others(857): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAS6_chr13_113815549_113869076 | 113816252 | G | GGGGAGAC others(831): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 | 1 | 143 | 0.0070 | 838 | c.*46 others(849): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 4296 | chr13 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(831): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 312 | 0.0032 | 838 | c.-41 others(853): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(831): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 312 | 0.0032 | 838 | c.-41 others(853): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIF25_chr6_167992671_168050091 | 167997264 | G | GCGGGGGA others(831): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 375 | 0.0027 | 838 | c.-22 others(849): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 406 | chr6 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997395 | A | ATCTGCAG others(831): Show |
upstream_gene_variant | MODIFIER | HG02074.hp2 NA18990.hp1 NA18995.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0201a0001c0001t0001g0204a0003c0004t0001g0223 | 3 | 375 | 0.0080 | 838 | c.-20 others(849): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 275 | chr6 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(831): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01106.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0092a0001c0001t0003g0047a0001c0001t0004g0095others(17): Show | 20 | 114 | 0.1754 | 838 | c.55+ others(857): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(831): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0004 | 1 | 114 | 0.0088 | 838 | c.55+ others(857): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126799454 | C | CTGTGTGC others(831): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0057 | 1 | 114 | 0.0088 | 838 | c.55+ others(857): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(831): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0264 | 1 | 284 | 0.0035 | 838 | c.126 others(855): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(831): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0258 | 1 | 284 | 0.0035 | 838 | c.126 others(855): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256713 | A | AGTCACAT others(831): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01099.hp1 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 18 | 422 | 0.0427 | 838 | c.-30 others(849): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2973 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(831): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 838 | c.-29 others(849): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(831): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 280 | 0.0036 | 838 | c.641 others(853): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(831): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0006 | a0005c0006t0016 | a0005c0006t0016g0124 | 1 | 272 | 0.0037 | 838 | c.250 others(853): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(831): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273 | 1 | 330 | 0.0030 | 838 | c.-5+ others(853): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
MXRA8_chr1_1347691_1363555 | 1351426 | G | GGAGGGGG others(831): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 338 | 0.0030 | 838 | c.*21 others(849): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 1264 | chr1 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TCCCCTCC others(831): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0042 | 1 | 326 | 0.0031 | 838 | c.433 others(855): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
NXN_chr17_794310_984776 | 948807 | G | GGCCTCCT others(831): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 242 | 0.0041 | 838 | c.360 others(857): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952442 | G | GGTCAGAG others(831): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 242 | 0.0041 | 838 | c.360 others(857): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(831): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 456 | 0.0044 | 838 | c.*31 others(849): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237753 | A | ACTATAGT others(831): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0245a0001c0001t0002g0242 | 2 | 439 | 0.0046 | 838 | c.-15 others(849): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1532 | chr14 | TogoVar | ||||||
PJA2_chr5_109329722_109414974 | 109353988 | T | TGTCTATG others(831): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0117 | 1 | 346 | 0.0029 | 838 | c.176 others(857): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167962 | C | CCTCTTTC others(831): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0197 | 1 | 312 | 0.0032 | 838 | c.306 others(857): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 504279 | C | CTCCCATC others(831): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0173 | 1 | 295 | 0.0034 | 838 | c.139 others(857): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(831): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0035 | 1 | 220 | 0.0046 | 838 | c.24+ others(855): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(831): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0038 | 1 | 220 | 0.0046 | 838 | c.24+ others(855): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(831): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0018a0001c0001t0001g0053 | 3 | 220 | 0.0136 | 838 | c.24+ others(855): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(831): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0016a0001c0001t0021others(2): Show | a0001c0001t0006g0044a0001c0001t0016g0042a0001c0001t0016g0043others(4): Show | 7 | 220 | 0.0318 | 838 | c.24+ others(855): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341567 | G | GTGGGGGG others(831): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0016 | 1 | 312 | 0.0032 | 838 | c.188 others(857): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(831): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0040 | 1 | 308 | 0.0033 | 838 | c.-75 others(857): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305059 | A | AGAGGGGA others(831): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 133 | 0.0075 | 838 | c.351 others(857): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934741 | A | AGGCGGCT others(831): Show |
intron_variant | MODIFIER | NA18948.hp1 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 2 | 434 | 0.0046 | 838 | c.843 others(855): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(831): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0183 | 1 | 203 | 0.0049 | 838 | c.-12 others(857): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(831): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0181 | 1 | 203 | 0.0049 | 838 | c.-12 others(857): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1288569 | C | CCGTGTCT others(831): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 290 | 0.0035 | 838 | c.166 others(855): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289615 | T | TCCCCCGT others(831): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 290 | 0.0035 | 838 | c.166 others(855): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(831): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 300 | 0.0033 | 838 | c.626 others(855): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |