| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHID1_chr11_862859_915810 | 871014 | GGAGTCTC others(1125): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 386 | 0.0026 | -1132 | c.960 others(16): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 10/12 | chr11 | TogoVar | ||||||
| PRKN_chr6_161342417_162732766 | 162084788 | AAACTTCA others(1125): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02922.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0004t0001 | a0001c0003t0003g0027a0001c0004t0001g0006 | 2 | 32 | 0.0625 | -1132 | c.535 others(19): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 4/11 | chr6 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343387 | CCCCCTGT others(1125): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 190 | 0.0053 | -1132 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PEX5L_chr3_179789958_180041937 | 179943176 | ATTGCTCT others(1124): Show |
A | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 220 | 0.0046 | -1131 | c.93+ others(17): Show |
PEX5L | ENSG00000114757.19 | transcript | ENST00000467460.6 | protein_coding | 2/14 | chr3 | TogoVar | ||||||
| RSPH14_chr22_23054415_23146990 | 23136241 | ATGTCATG others(1124): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp1 others(89): Show |
a0001a0005a0008 | a0001c0001a0001c0011a0005c0005others(1): Show | a0001c0001t0001a0001c0011t0001a0005c0005t0001others(1): Show | a0001c0001t0001g0008a0001c0001t0001g0149a0001c0001t0001g0150others(89): Show | 92 | 314 | 0.2930 | -1131 | c.302 others(17): Show |
RSPH14 | ENSG00000100218.12 | transcript | ENST00000216036.9 | protein_coding | 3/6 | chr22 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343543 | GGCAGCTT others(1124): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG02965.hp2 |
a0001a0006 | a0001c0002a0006c0028 | a0001c0002t0001a0006c0028t0001 | a0001c0002t0001g0170a0006c0028t0001g0117 | 2 | 190 | 0.0105 | -1131 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TMEM132D_chr12_129066726_129909025 | 129088415 | GGGGTGTC others(1124): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0056 | 1 | 94 | 0.0106 | -1131 | c.144 others(19): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 5/8 | chr12 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1431986 | CCAGCAGT others(1123): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0050 | 1 | 360 | 0.0028 | -1130 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| LSS_chr21_46183446_46233774 | 46189828 | AGTAGCCA others(1123): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02622.hp2 others(10): Show |
a0001a0004 | a0001c0006a0004c0007 | a0001c0006t0005a0004c0007t0005 | a0001c0006t0005g0049a0001c0006t0005g0056a0004c0007t0005g0012others(9): Show | 13 | 358 | 0.0363 | -1130 | c.*14 others(10): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 22/22 | 146 | chr21 | TogoVar | |||||
| RBM47_chr4_40418280_40634864 | 40633734 | GTGAGCCA others(1123): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02922.hp2 |
a0001a0002 | a0001c0003a0002c0010a0002c0015 | a0001c0003t0024a0002c0010t0012a0002c0015t0008 | a0001c0003t0024g0082a0002c0010t0012g0129a0002c0015t0008g0081 | 3 | 278 | 0.0108 | -1130 | c.-57 others(11): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 3871 | chr4 | TogoVar | ||||||
| UQCRC1_chr3_48594002_48614646 | 48610705 | AAAAAAAA others(1123): Show |
A | upstream_gene_variant | MODIFIER | NA18747.hp1 NA18954.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0030 | 5 | 308 | 0.0162 | -1130 | c.-22 others(11): Show |
UQCRC1 | ENSG00000010256.11 | transcript | ENST00000203407.6 | protein_coding | 1060 | chr3 | TogoVar | ||||||
| CHMP3_chr2_86498430_86568443 | 86548823 | GCGCACCT others(1121): Show |
G | intron_variant | MODIFIER | HG00408.hp1 NA18940.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0102a0001c0001t0002g0104a0001c0001t0005g0103 | 3 | 336 | 0.0089 | -1128 | c.46- others(15): Show |
CHMP3 | ENSG00000115561.16 | transcript | ENST00000263856.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346058 | GGGAGGAC others(1121): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 288 | 0.0035 | -1128 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686214 | GCCCCCAG others(1121): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 362 | 0.0028 | -1128 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PPP1R16A_chr8_144472982_144507121 | 144494555 | ACCTTGGC others(1121): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 356 | 0.0028 | -1128 | c.-73 others(18): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| PTPRG_chr3_61556571_62302609 | 61870068 | GTACCATC others(1121): Show |
G | intron_variant | MODIFIER | HG03130.hp2 NA18522.hp1 |
a0002a0009 | a0002c0003a0009c0018 | a0002c0003t0002a0009c0018t0006 | a0002c0003t0002g0061a0009c0018t0006g0039 | 2 | 94 | 0.0213 | -1128 | c.191 others(21): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| SNX32_chr11_65828963_65858701 | 65845276 | AAAAAATA others(1121): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 390 | 0.0026 | -1128 | c.37- others(15): Show |
SNX32 | ENSG00000172803.18 | transcript | ENST00000308342.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| TNFRSF10D_chr8_23130588_23169027 | 23147839 | GATCACGA others(1121): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG02145.hp1 HG02738.hp2 |
a0012 | a0012c0012 | a0012c0012t0001 | a0012c0012t0001g0027 | 2 | 444 | 0.0045 | -1128 | c.257 others(15): Show |
TNFRSF10D | ENSG00000173530.6 | transcript | ENST00000312584.4 | protein_coding | 3/9 | chr8 | TogoVar | ||||||
| CDH4_chr20_61247261_61945617 | 61943584 | CTCTCACC others(1120): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG02630.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0001g0032a0001c0003t0001g0038a0001c0003t0002g0002others(2): Show | 5 | 106 | 0.0472 | -1127 | c.*66 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2968 | chr20 | TogoVar | ||||||
| MTUS1_chr8_17638802_17806094 | 17723130 | AAAATAAG others(1120): Show |
A | exon_loss_variant others(4): Show |
HIGH | HG00735.hp2 HG02004.hp1 HG02280.hp2 others(2): Show |
a0008a0024 | a0008c0020a0024c0067 | a0008c0020t0012a0024c0067t0012 | a0008c0020t0012g0086a0008c0020t0012g0110a0008c0020t0012g0171others(2): Show | 5 | 330 | 0.0152 | -1127 | c.228 others(17): Show |
MTUS1 | ENSG00000129422.15 | transcript | ENST00000693296.1 | protein_coding | 4/15 | chr8 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2123170 | CACGGTGG others(1120): Show |
C | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0185 | 1 | 286 | 0.0035 | -1127 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | ||||||
| NFATC1_chr18_79390930_79534323 | 79441943 | GCCGTCTC others(1119): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0007 | a0003c0007t0008 | a0003c0007t0008g0017 | 1 | 322 | 0.0031 | -1126 | c.138 others(19): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 3/9 | chr18 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177993249 | CTCTCAGC others(1118): Show |
C | intron_variant | MODIFIER | NA18939.hp2 | a0004 | a0004c0007 | a0004c0007t0011 | a0004c0007t0011g0161 | 1 | 170 | 0.0059 | -1125 | c.107 others(21): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 2/19 | chr2 | TogoVar | ||||||
| RIPOR3_chr20_50581108_50696542 | 50617056 | TGCTTGAA others(1118): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0173 | 1 | 280 | 0.0036 | -1125 | c.269 others(16): Show |
RIPOR3 | ENSG00000042062.13 | transcript | ENST00000327979.8 | protein_coding | 3/21 | chr20 | TogoVar | ||||||
| TRNT1_chr3_3121940_3154023 | 3134318 | ACTGCTCT others(1118): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013a0001c0001t0006g0132a0001c0001t0006g0211 | 8 | 402 | 0.0199 | -1125 | c.149 others(17): Show |
TRNT1 | ENSG00000072756.18 | transcript | ENST00000251607.11 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| TSPAN9_chr12_3072379_3291559 | 3197712 | CCACCAGC others(1118): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00642.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0167a0001c0001t0001g0174a0001c0001t0001g0175others(38): Show | 41 | 288 | 0.1424 | -1125 | c.-17 others(17): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| TUBGCP2_chr10_133273635_133313872 | 133291247 | CCCCCATG others(1118): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0150a0001c0001t0001g0177others(3): Show | 6 | 284 | 0.0211 | -1125 | c.121 others(18): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1033828 | GACGGTGT others(1117): Show |
G | intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0019 | 3 | 390 | 0.0077 | -1124 | c.390 others(17): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1406184 | ACTTACTG others(1117): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02074.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0009a0001c0003t0024 | a0001c0002t0009g0039a0001c0003t0024g0003 | 2 | 40 | 0.0500 | -1124 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 1406198 | ACCTCCTC others(1117): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0004 | a0002c0004t0026 | a0002c0004t0026g0016 | 1 | 40 | 0.0250 | -1124 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GAL3ST2_chr2_241771822_241809287 | 241805655 | GACCTCCG others(1117): Show |
G | downstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 314 | 0.0032 | -1124 | c.*14 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1369 | chr2 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132298771 | ACACACCT others(1117): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG01978.hp1 others(14): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(6): Show | a0001c0001t0001g0059a0001c0002t0001g0004a0001c0002t0001g0022others(14): Show | 17 | 183 | 0.0929 | -1124 | c.239 others(19): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 960440 | CACAGACT others(1117): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0048 | a0006c0048t0006 | a0006c0048t0006g0108 | 1 | 294 | 0.0034 | -1124 | c.194 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 10020302 | TTTTCTTT others(1117): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01099.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(27): Show | a0001c0001t0001g0004a0001c0001t0002g0013a0001c0001t0002g0018others(28): Show | 31 | 34 | 0.9118 | -1124 | c.-47 others(21): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | ||||||
| KCND2_chr7_120268175_120755337 | 120650210 | TTTTCCAA others(1116): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0012a0001c0001t0001g0021a0001c0001t0001g0022others(18): Show | 21 | 80 | 0.2625 | -1123 | c.111 others(21): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| ARHGAP39_chr8_144524179_144690846 | 144624682 | TCACTGCA others(1115): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02809.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0084a0001c0002t0001g0082a0001c0002t0001g0083others(1): Show | 4 | 246 | 0.0163 | -1122 | c.-81 others(19): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1/11 | chr8 | TogoVar | ||||||
| DPH7_chr9_137549444_137583925 | 137565597 | GTGACTCT others(1115): Show |
G | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 340 | 0.0029 | -1122 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | ||||||
| LUC7L_chr16_183990_234449 | 186128 | GACACGGG others(1115): Show |
G | downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 350 | 0.0029 | -1122 | c.*19 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2861 | chr16 | TogoVar | ||||||
| PTPRD_chr9_8309246_10618002 | 8660298 | ATATTTAA others(1115): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0031 | 1 | 34 | 0.0294 | -1122 | c.65- others(17): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 12/45 | chr9 | TogoVar | ||||||
| SLC12A7_chr5_1045384_1117063 | 1072135 | GAGCCCCC others(1115): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0009 | 1 | 118 | 0.0085 | -1122 | c.224 others(18): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
| TRIP13_chr5_887884_923120 | 897348 | TTCAGTGT others(1115): Show |
T | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0206 | 1 | 402 | 0.0025 | -1122 | c.388 others(16): Show |
TRIP13 | ENSG00000071539.14 | transcript | ENST00000166345.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| P2RX5_chr17_3668227_3701155 | 3686153 | GCCCCCAG others(1114): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0303 | 1 | 362 | 0.0028 | -1121 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| RNGTT_chr6_88604897_88968618 | 88781475 | AAATCCTA others(1114): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02965.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142a0001c0001t0002g0143a0001c0001t0002g0144 | 3 | 220 | 0.0136 | -1121 | c.133 others(21): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 12/15 | chr6 | TogoVar | ||||||
| SKI_chr1_2223319_2315213 | 2280720 | CGATCTTC others(1114): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0060 | a0001c0001t0013g0059a0001c0001t0060g0058 | 2 | 330 | 0.0061 | -1121 | c.970 others(19): Show |
SKI | ENSG00000157933.11 | transcript | ENST00000378536.5 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393112 | GGGGAGGG others(1114): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0004 | a0004c0010 | a0004c0010t0037 | a0004c0010t0037g0245 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393117 | GGGCAGGT others(1114): Show |
G | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0162 | a0001c0001t0162g0291 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393190 | GGGTGGTC others(1114): Show |
G | intron_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0003 | a0002c0003t0118 | a0002c0003t0118g0102 | 1 | 346 | 0.0029 | -1121 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| DVL1_chr1_1330278_1354418 | 1349974 | TGGGAGGA others(1113): Show |
T | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01517.hp1 others(1): Show |
a0001 | a0001c0001a0001c0021 | a0001c0001t0001a0001c0021t0001 | a0001c0001t0001g0012a0001c0001t0001g0093a0001c0021t0001g0124 | 4 | 344 | 0.0116 | -1120 | c.-20 others(10): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 557 | chr1 | TogoVar | ||||||
| MAD1L1_chr7_1810795_2237945 | 1991056 | CGAGCACC others(1113): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02976.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0183a0001c0001t0006g0262a0001c0001t0006g0263 | 3 | 264 | 0.0114 | -1120 | c.141 others(20): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | ||||||
| MXRA8_chr1_1347691_1363555 | 1349974 | TGGGAGGA others(1113): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01515.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0014g0055 | 4 | 338 | 0.0118 | -1120 | c.*25 others(11): Show |
MXRA8 | ENSG00000162576.17 | transcript | ENST00000309212.11 | protein_coding | 2716 | chr1 | TogoVar |