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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBD3L4_chr19_7032749_7045179 | 7035052 | ATATTATA others(110): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp2 NA19003.hp1 NA19062.hp2 |
a0002a0009 | a0002c0002a0009c0012 | a0002c0002t0001a0009c0012t0001 | a0002c0002t0001g0038 a0009c0012t0001g0022 |
3 | 262 | 0.0115 | -117 | c.*26 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2696 | chr19 | TogoVar | |||||||
MBD3L5_chr19_7025578_7038011 | 7035052 | ATATTATA others(110): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp2 NA19003.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0016t0002 | a0001c0001t0002g0034 a0001c0016t0002g0038 |
2 | 249 | 0.0080 | -117 | c.*21 others(11): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2042 | chr19 | TogoVar | |||||||
MED1_chr17_39399285_39456263 | 39428039 | AGACTCCA others(110): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 a0001c0001t0001g0084 |
2 | 280 | 0.0071 | -117 | c.650 others(15): Show |
MED1 | ENSG00000125686.12 | transcript | ENST00000300651.11 | protein_coding | 9/16 | chr17 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197032523 | AGCACCTG others(110): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(120): Show |
176 | 420 | 0.4191 | -117 | c.-29 others(11): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 2707 | chr3 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543809 | AGTGGTGA others(110): Show |
A | intron_variant | MODIFIER | NA19005.hp2 NA19058.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0279 |
3 | 286 | 0.0105 | -117 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543925 | GGACAGTG others(110): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02970.hp2 |
a0003a0024 | a0003c0003a0024c0052 | a0003c0003t0001a0024c0052t0005 | a0003c0003t0001g0229 a0024c0052t0005g0114 |
2 | 286 | 0.0070 | -117 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544351 | GGGACAGT others(110): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0030 | a0030c0028 | a0030c0028t0001 | a0030c0028t0001g0128 | 1 | 286 | 0.0035 | -117 | c.153 others(19): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496004 | ATGGTGGT others(110): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 250 | 0.0040 | -117 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496760 | GTGATGGT others(110): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0237 | 1 | 250 | 0.0040 | -117 | c.633 others(17): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MRPL23_chr11_1942332_1961600 | 1950571 | CTGTTGTG others(110): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 401 | 0.0025 | -117 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MRPL23_chr11_1942332_1961600 | 1950586 | ACGCGGGG others(110): Show |
A | intron_variant | MODIFIER | NA19077.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0139 | 1 | 401 | 0.0025 | -117 | c.18- others(13): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MRPL23_chr11_1942332_1961600 | 1950686 | CCACTGTT others(110): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0085 | 1 | 401 | 0.0025 | -117 | c.18- others(12): Show |
MRPL23 | ENSG00000214026.11 | transcript | ENST00000397298.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSH4_chr1_75791882_75918242 | 75886230 | GTATATAT others(110): Show |
G | intron_variant | MODIFIER | HG03492.hp1 NA18968.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0265 a0005c0007t0001g0175 |
2 | 332 | 0.0060 | -117 | c.210 others(19): Show |
MSH4 | ENSG00000057468.7 | transcript | ENST00000263187.4 | protein_coding | 15/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1255809 | CCCCGGGC others(110): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0152 | a0152c0065 | a0152c0065t0001 | a0152c0065t0001g0109 | 1 | 350 | 0.0029 | -117 | c.160 others(19): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 37/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1255868 | CCCCGGGC others(110): Show |
C | intron_variant | MODIFIER | HG01978.hp2 | a0065 | a0065c0123 | a0065c0123t0001 | a0065c0123t0001g0093 | 1 | 350 | 0.0029 | -117 | c.160 others(19): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 37/48 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MYO1F_chr19_8515778_8582442 | 8543684 | GTGGTGGT others(110): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 342 | 0.0029 | -117 | c.152 others(17): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124431087 | GCACACAC others(110): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0025a0002c0111a0003c0002others(7): Show | a0001c0025t0033a0002c0111t0014a0003c0002t0066others(9): Show | a0001c0025t0033g0137 a0002c0111t0014g0203 a0003c0002t0066g0111 others(9): Show |
12 | 234 | 0.0513 | -117 | c.883 others(15): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 10/48 | chr12 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807290 | CCACCTTC others(110): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0194 a0001c0001t0004g0125 |
2 | 319 | 0.0063 | -117 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1902 | chr2 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241807356 | AACCTCCG others(110): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 319 | 0.0031 | -117 | c.-19 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 1836 | chr2 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79482673 | TCCTGGGG others(110): Show |
T | intron_variant | MODIFIER | HG02300.hp2 | a0003 | a0003c0007 | a0003c0007t0024 | a0003c0007t0024g0146 | 1 | 322 | 0.0031 | -117 | c.209 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
NFE2L3_chr7_26147198_26192137 | 26183440 | CCGGAGGC others(110): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01517.hp2 HG02451.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0028 a0001c0002t0008g0064 a0001c0002t0008g0065 others(1): Show |
5 | 400 | 0.0125 | -117 | c.751 others(15): Show |
NFE2L3 | ENSG00000050344.9 | transcript | ENST00000056233.4 | protein_coding | 2/3 | chr7 | TogoVar | |||||||
NPIPB11_chr16_29376310_29411711 | 29383507 | TGTCTTGA others(110): Show |
T | disruptive_inframe_deletion | MODERATE | NA19076.hp1 | a0122 | a0122c0097 | a0122c0097t0027 | a0122c0097t0027g0316 | 1 | 428 | 0.0023 | -117 | c.130 others(9): Show |
p.Arg others(13): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4171/6369 | 1308/3486 | 436/1161 | chr16 | TogoVar | |||
NSMF_chr9_137442570_137464334 | 137460085 | TTCACAGG others(110): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02109.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 a0001c0001t0006g0057 |
3 | 414 | 0.0073 | -117 | c.-11 others(10): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 752 | chr9 | TogoVar | |||||||
NT5M_chr17_17298373_17352663 | 17307478 | GCCTGTAA others(110): Show |
G | intron_variant | MODIFIER | NA19072.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0272 | 1 | 348 | 0.0029 | -117 | c.368 others(15): Show |
NT5M | ENSG00000205309.14 | transcript | ENST00000389022.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NTM_chr11_131365615_132341822 | 131789409 | TTAAAAGA others(110): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 86 | 0.0116 | -117 | c.83- others(19): Show |
NTM | ENSG00000182667.15 | transcript | ENST00000683400.1 | protein_coding | 1/8 | chr11 | TogoVar | |||||||
NTN1_chr17_9016510_9249000 | 9161898 | CGGGCAGG others(110): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01069.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0027 a0001c0001t0001g0061 a0001c0001t0001g0093 others(23): Show |
26 | 258 | 0.1008 | -117 | c.101 others(17): Show |
NTN1 | ENSG00000065320.9 | transcript | ENST00000173229.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140871 | CGAAGAAG others(110): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02809.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0049 a0001c0001t0003g0050 a0001c0001t0004g0007 others(3): Show |
6 | 68 | 0.0882 | -117 | c.62- others(19): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133140910 | AGAAGAAG others(110): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0053 | 1 | 68 | 0.0147 | -117 | c.62- others(19): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OR2V2_chr5_181142586_181164285 | 181160724 | GTCACTGG others(110): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp2 HG02451.hp1 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0050others(3): Show | a0001c0001t0013g0013 a0001c0001t0013g0033 a0001c0001t0013g0070 others(7): Show |
12 | 424 | 0.0283 | -117 | c.*48 others(11): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 1440 | chr5 | TogoVar | |||||||
ORC1_chr1_52367829_52409423 | 52407327 | AATAAAGC others(110): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 304 | 0.0033 | -117 | c.-32 others(11): Show |
ORC1 | ENSG00000085840.13 | transcript | ENST00000371568.8 | protein_coding | 2905 | chr1 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31510809 | TACATATG others(110): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0016 | 1 | 244 | 0.0041 | -117 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45852347 | CAGCCACC others(110): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02630.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0009 | a0001c0001t0002g0209 a0001c0001t0002g0217 a0001c0001t0002g0218 others(7): Show |
10 | 292 | 0.0343 | -117 | c.10+ others(15): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977699 | GCAACCCC others(110): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG03579.hp2 |
a0001 | a0001c0001a0001c0035 | a0001c0001t0003a0001c0001t0014a0001c0035t0001 | a0001c0001t0003g0113 a0001c0001t0014g0117 a0001c0035t0001g0098 |
3 | 408 | 0.0074 | -117 | c.214 others(19): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977838 | AATCCCCC others(110): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0199 | 1 | 408 | 0.0025 | -117 | c.214 others(18): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PLEKHN1_chr1_961482_980865 | 977699 | GCAACCCC others(110): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02717.hp2 HG02965.hp1 |
a0001a0009 | a0001c0010a0001c0012a0009c0020 | a0001c0010t0003a0001c0012t0040a0009c0020t0003 | a0001c0010t0003g0071 a0001c0012t0040g0102 a0009c0020t0003g0002 |
3 | 422 | 0.0071 | -117 | c.*31 others(11): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1835 | chr1 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137460085 | TTCACAGG others(110): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01123.hp1 HG02109.hp2 HG02723.hp1 |
a0019a0023a0030 | a0019c0053a0023c0060a0030c0042 | a0019c0053t0004a0023c0060t0004a0030c0042t0004 | a0019c0053t0004g0135 a0023c0060t0004g0096 a0030c0042t0004g0053 |
3 | 188 | 0.0160 | -117 | c.*19 others(9): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 35/35 | 191 | chr9 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3433482 | GCTGCCTG others(110): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0005a0001c0001t0030a0001c0001t0076others(10): Show | a0001c0001t0005g0184 a0001c0001t0030g0162 a0001c0001t0076g0170 others(14): Show |
17 | 210 | 0.0810 | -117 | c.369 others(16): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRPF38A_chr1_52399602_52425836 | 52407327 | AATAAAGC others(110): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0092 | 1 | 308 | 0.0033 | -117 | c.291 others(17): Show |
PRPF38A | ENSG00000134748.13 | transcript | ENST00000257181.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGER4_chr5_40674915_40698735 | 40697034 | GGAAAGAA others(110): Show |
G | downstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 406 | 0.0025 | -117 | c.*46 others(11): Show |
PTGER4 | ENSG00000171522.6 | transcript | ENST00000302472.4 | protein_coding | 3300 | chr5 | TogoVar | |||||||
PTPN21_chr14_88460778_88560007 | 88509084 | CATAGCCG others(110): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 |
3 | 348 | 0.0086 | -117 | c.351 others(17): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 3/18 | chr14 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43754073 | ATAGGCTA others(110): Show |
A | intron_variant | MODIFIER | HG01074.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0222 | 1 | 306 | 0.0033 | -117 | c.910 others(15): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 2/8 | chr12 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114104067 | GGACACCC others(110): Show |
G | intron_variant | MODIFIER | HG02723.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0009 a0001c0001t0005g0023 |
2 | 67 | 0.0299 | -117 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114104174 | CCCTGGCC others(110): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG01993.hp1 HG01993.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0003 | a0001c0002t0002g0019 a0001c0002t0002g0031 a0001c0003t0003g0020 others(3): Show |
6 | 67 | 0.0896 | -117 | c.55+ others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RIMS1_chr6_71881550_72408145 | 72152948 | ATATGTAT others(110): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0073 | 1 | 140 | 0.0071 | -117 | c.472 others(19): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 4/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF212_chr4_1066478_1118564 | 1095277 | CCCACAGC others(110): Show |
C | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 406 | 0.0025 | -117 | c.246 others(17): Show |
RNF212 | ENSG00000178222.14 | transcript | ENST00000433731.7 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
RNF213_chr17_80255852_80403794 | 80314049 | GTGGTGGA others(110): Show |
G | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0079 | 1 | 292 | 0.0034 | -117 | c.281 others(18): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 209582 | TGGGAGGC others(110): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0041 | 1 | 133 | 0.0075 | -117 | c.*41 others(11): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 2806 | chr17 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3177700 | ATCGGGCT others(110): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 418 | 0.0024 | -117 | c.-10 others(10): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 1068 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3177778 | ATCGGGCT others(110): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp1 NA18962.hp2 NA19240.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0000 a0001c0013t0001g0000 |
3 | 418 | 0.0072 | -117 | c.-10 others(10): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 990 | chr19 | TogoVar | |||||||
S1PR4_chr19_3173769_3185332 | 3178012 | ATCGGGCT others(110): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | -117 | c.-78 others(9): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 756 | chr19 | TogoVar |