view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EVC_chr4_5706201_5819305 | 5706323 | T | TAGATAGA others(1117): Show |
upstream_gene_variant | MODIFIER | NA20300.hp1 | a0015 | a0015c0038 | a0015c0038t0004 | a0015c0038t0004g0080 | 1 | 369 | 0.0027 | 1124 | c.-50 others(1135): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4877 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1117): Show |
upstream_gene_variant | MODIFIER | NA18992.hp1 | a0060 | a0060c0071 | a0060c0071t0002 | a0060c0071t0002g0024 | 1 | 369 | 0.0027 | 1124 | c.-50 others(1135): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706333 | G | GATAGATA others(1117): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0014 | a0004c0014t0006 | a0004c0014t0006g0063 | 1 | 369 | 0.0027 | 1124 | c.-50 others(1135): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4867 | chr4 | TogoVar | |||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTATTT others(1117): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0125 | 1 | 394 | 0.0025 | 1124 | c.41- others(1139): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1117): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0206 | 1 | 366 | 0.0027 | 1124 | c.-36 others(1135): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352814 | T | TAATATGT others(1117): Show |
upstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 366 | 0.0027 | 1124 | c.-36 others(1135): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2981 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352814 | T | TAATATGT others(1117): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 HG03540.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0199 a0002c0002t0002g0200 |
2 | 348 | 0.0058 | 1124 | c.*89 others(1133): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 778 | chr2 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(1117): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0200 | 1 | 368 | 0.0027 | 1124 | c.353 others(1141): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
LARS1_chr5_146108034_146187650 | 146174505 | T | TATATATA others(1117): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0009 | a0009c0007 | a0009c0007t0002 | a0009c0007t0002g0222 | 1 | 284 | 0.0035 | 1124 | c.126 others(1141): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1117): Show |
downstream_gene_variant | MODIFIER | NA18942.hp1 NA18947.hp1 NA18949.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 |
4 | 456 | 0.0088 | 1124 | c.*31 others(1135): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1117): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 NA18965.hp1 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 4 | 456 | 0.0088 | 1124 | c.*31 others(1135): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1117): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02027.hp2 HG02056.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 15 | 456 | 0.0329 | 1124 | c.*31 others(1135): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398113 | T | TGTCACCT others(1117): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0169 | 1 | 216 | 0.0046 | 1124 | c.106 others(1141): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1117): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 NA18994.hp1 NA18997.hp1 others(3): Show |
a0001a0004a0039 | a0001c0001a0001c0069a0004c0002others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0069t0017others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0061 a0001c0001t0010g0036 others(3): Show |
6 | 322 | 0.0186 | 1124 | c.*48 others(1135): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1117): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02027.hp2 NA18943.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(2): Show | a0001c0001t0001g0048 a0001c0001t0010g0010 a0001c0001t0010g0053 others(4): Show |
7 | 322 | 0.0217 | 1124 | c.*48 others(1135): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCACC others(1117): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0121 | 1 | 322 | 0.0031 | 1124 | c.*48 others(1135): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | |||||||
SERPINF2_chr17_1737871_1760265 | 1740324 | A | AGCCGGAC others(1117): Show |
upstream_gene_variant | MODIFIER | NA18989.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0091 | 1 | 445 | 0.0023 | 1124 | c.-25 others(1135): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 2546 | chr17 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1117): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0022 a0001c0002t0010g0100 |
2 | 186 | 0.0108 | 1124 | c.-50 others(1135): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1117): Show |
intron_variant | MODIFIER | HG01891.hp2 NA20129.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0009 a0003c0003t0001g0160 |
2 | 174 | 0.0115 | 1124 | c.148 others(1145): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL11_chr9_121810674_122098308 | 121895759 | T | TTGTGTGT others(1117): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18968.hp1 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0014a0005c0004t0019 | a0001c0001t0014g0086 a0005c0004t0019g0029 |
2 | 174 | 0.0115 | 1124 | c.148 others(1145): Show |
TTLL11 | ENSG00000175764.17 | transcript | ENST00000321582.11 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029267 | A | ATCCTGAA others(1117): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0163 | 1 | 224 | 0.0045 | 1124 | c.225 others(1143): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
WDR81_chr17_1719704_1743585 | 1740324 | A | AGCCGGAC others(1117): Show |
downstream_gene_variant | MODIFIER | NA18989.hp2 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0062 | 1 | 431 | 0.0023 | 1124 | c.*26 others(1135): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 1740 | chr17 | TogoVar | |||||||
ZNF875_chr19_37329649_37369447 | 37359669 | T | TGGGATTA others(1117): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01167.hp2 HG01169.hp1 others(11): Show |
a0002a0007 | a0002c0005a0007c0009 | a0002c0005t0003a0007c0009t0001 | a0002c0005t0003g0006 a0002c0005t0003g0058 a0002c0005t0003g0280 others(7): Show |
14 | 382 | 0.0367 | 1124 | c.257 others(1141): Show |
ZNF875 | ENSG00000181666.19 | transcript | ENST00000392153.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113418971 | C | CTCTTTTC others(1118): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0092 | 1 | 262 | 0.0038 | 1125 | c.106 others(1144): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(1118): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0000 | 1 | 416 | 0.0024 | 1125 | c.*10 others(1138): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251510 | G | GAAGGAAG others(1118): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 242 | 0.0041 | 1125 | c.927 others(1142): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TTCCCCTC others(1118): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 |
a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0015 a0001c0007t0004g0154 |
2 | 210 | 0.0095 | 1125 | c.273 others(1142): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1118): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0160 | 1 | 344 | 0.0029 | 1125 | c.373 others(1142): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTTGTGAT others(1118): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02622.hp2 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0057 | a0001c0003t0001a0002c0001t0001a0002c0057t0001 | a0001c0003t0001g0301 a0002c0001t0001g0025 a0002c0001t0001g0028 others(4): Show |
7 | 344 | 0.0204 | 1125 | c.373 others(1142): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1118): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0179 | 1 | 258 | 0.0039 | 1125 | c.403 others(1140): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | |||||||
CHL1_chr3_191763_414417 | 261941 | G | GTACTTAC others(1118): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0231 | 1 | 290 | 0.0035 | 1125 | c.-95 others(1144): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1118): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0183 | a0002c0183t0001 | a0002c0183t0001g0151 | 1 | 252 | 0.0040 | 1125 | c.118 others(1144): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1118): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0053 | a0053c0141 | a0053c0141t0001 | a0053c0141t0001g0160 | 1 | 252 | 0.0040 | 1125 | c.118 others(1144): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586501 | G | GGGGGGGA others(1118): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0295 | 1 | 308 | 0.0033 | 1125 | c.157 others(1142): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241178 | A | AGGGACCC others(1118): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0074 | 1 | 183 | 0.0055 | 1125 | c.107 others(1144): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1118): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG02738.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 2 | 397 | 0.0050 | 1125 | c.*50 others(1136): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(1118): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG03225.hp1 HG03471.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0009 | a0001c0003t0001a0002c0002t0001a0002c0009t0001 | a0001c0003t0001g0126 a0002c0002t0001g0004 a0002c0002t0001g0006 others(1): Show |
4 | 397 | 0.0101 | 1125 | c.*50 others(1136): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602360 | T | TCTCTCCT others(1118): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0346 | 1 | 408 | 0.0025 | 1125 | c.633 others(1142): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399220 | C | CCACCACC others(1118): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 314 | 0.0032 | 1125 | c.-25 others(1142): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399332 | C | CATCACCA others(1118): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19010.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0091 a0001c0001t0001g0094 |
3 | 314 | 0.0096 | 1125 | c.-25 others(1142): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161862 | C | CACCCCTG others(1118): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 376 | 0.0027 | 1125 | c.-71 others(1134): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 654 | chr11 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(1118): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 276 | 0.0073 | 1125 | c.*65 others(1136): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1118): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 108 | 0.0093 | 1125 | c.648 others(1144): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579131 | A | ACCACCAT others(1118): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 362 | 0.0028 | 1125 | c.391 others(1140): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(1118): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 56 | 0.0179 | 1125 | c.209 others(1140): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877180 | G | GGGAGGTT others(1118): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0017 | a0017c0052 | a0017c0052t0001 | a0017c0052t0001g0090 | 1 | 274 | 0.0037 | 1125 | c.224 others(1144): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877396 | G | GGGAAGTT others(1118): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 274 | 0.0037 | 1125 | c.224 others(1144): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398328 | G | GGTAGATC others(1118): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | 1125 | c.*46 others(1136): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4603 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398533 | T | TTTTCGGG others(1118): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | 1125 | c.*43 others(1136): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4398 | chr4 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1118): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 208 | 0.0048 | 1125 | c.279 others(1140): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar |