| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CSF2RA_chrX_1263814_1314935 | 1297569 | G | GACCCCTA others(779): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0048 others(33): Show |
36 | 152 | 0.2368 | 786 | c.810 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CSF2RA_chrX_1263814_1314935 | 1298242 | T | TCCTACCC others(779): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0028 | 1 | 141 | 0.0071 | 786 | c.811 others(803): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CYLC1_chrX_83856146_83891698 | 83878244 | A | AATATATA others(779): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00738.hp1 HG02257.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0017 others(1): Show |
7 | 198 | 0.0354 | 786 | c.192 others(805): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(779): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0106 | 1 | 83 | 0.0120 | 786 | c.724 others(805): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
| DGKB_chr7_14140049_14907751 | 14212196 | T | TTTTACTC others(779): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0012 | 1 | 111 | 0.0090 | 786 | c.212 others(807): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
| DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(779): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 86 | 0.0116 | 786 | c.*39 others(797): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
| F7_chr13_113100791_113125685 | 113101123 | C | CGGCTCAC others(779): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0010 | a0002c0010t0015 | a0002c0010t0015g0084 | 1 | 394 | 0.0025 | 786 | c.-47 others(797): Show |
F7 | ENSG00000057593.14 | transcript | ENST00000346342.8 | protein_coding | 4667 | chr13 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38946707 | T | TATATAAA others(779): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 224 | 0.0045 | 786 | c.617 others(803): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| GRAMD1B_chr11_123425269_123632767 | 123584374 | T | TGGGAGGG others(779): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0246 | 1 | 130 | 0.0077 | 786 | c.684 others(799): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| GTPBP6_chrX_299759_323796 | 316000 | G | GACACACA others(779): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 78 | 0.0128 | 786 | c.488 others(801): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
| HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(779): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02004.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 a0001c0001t0002g0190 |
2 | 249 | 0.0080 | 786 | c.-25 others(803): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATGGA others(779): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0334 | 1 | 320 | 0.0031 | 786 | c.666 others(803): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| IFFO2_chr1_18899280_18961676 | 18925853 | T | TGGATGGA others(779): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 320 | 0.0031 | 786 | c.666 others(803): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAT others(779): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0246 | 1 | 62 | 0.0161 | 786 | c.-21 others(797): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
| IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(779): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01258.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0017 | a0001c0002t0002g0266 a0001c0004t0017g0225 |
2 | 101 | 0.0198 | 786 | c.623 others(803): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(779): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 5 | 0.2000 | 786 | c.-41 others(801): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(779): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0089 | a0089c0029 | a0089c0029t0001 | a0089c0029t0001g0180 | 1 | 165 | 0.0061 | 786 | c.450 others(803): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
| LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(779): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0047 | a0047c0036 | a0047c0036t0001 | a0047c0036t0001g0181 | 1 | 165 | 0.0061 | 786 | c.450 others(803): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(779): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0216 | 1 | 207 | 0.0048 | 786 | c.126 others(803): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LHFPL3_chr7_104323603_104913561 | 104824176 | A | ATATATAT others(779): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 71 | 0.0141 | 786 | c.683 others(805): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LORICRIN_chr1_153254687_153267124 | 153256713 | A | AGTCACAT others(779): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 374 | 0.0027 | 786 | c.-30 others(797): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2973 | chr1 | TogoVar | |||||||
| LORICRIN_chr1_153254687_153267124 | 153256713 | A | AGTCACAT others(779): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0001 | 1 | 374 | 0.0027 | 786 | c.-30 others(797): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2973 | chr1 | TogoVar | |||||||
| LRRIQ1_chr12_85031351_85250105 | 85112497 | T | TAAGAGTT others(779): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02559.hp2 HG03579.hp2 |
a0001a0013 | a0001c0001a0013c0018 | a0001c0001t0001a0013c0018t0001 | a0001c0001t0001g0094 a0001c0001t0001g0103 a0013c0018t0001g0084 |
3 | 200 | 0.0150 | 786 | c.337 others(805): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| MCF2L_chr13_112964214_113104742 | 113101123 | C | CGGCTCAC others(779): Show |
downstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0018 | 1 | 113 | 0.0088 | 786 | c.*42 others(797): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1382 | chr13 | TogoVar | |||||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(779): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 6 | 0.1667 | 786 | c.-8+ others(799): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
| MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(779): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 210 | 0.0048 | 786 | c.-5+ others(801): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(779): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0011 | a0011c0058 | a0011c0058t0001 | a0011c0058t0001g0080 | 1 | 130 | 0.0077 | 786 | c.148 others(805): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
| MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(779): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0009 | a0009c0038 | a0009c0038t0001 | a0009c0038t0001g0076 | 1 | 130 | 0.0077 | 786 | c.148 others(805): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | |||||||
| MUSK_chr9_110663791_110811558 | 110690423 | A | AGTATATA others(779): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0021 | 1 | 312 | 0.0032 | 786 | c.358 others(803): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(779): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 5 | 0.2000 | 786 | c.*15 others(797): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2124353 | C | CTGTAGTT others(779): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0133 | 1 | 62 | 0.0161 | 786 | c.335 others(805): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(779): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0140 | 1 | 19 | 0.0526 | 786 | c.24+ others(803): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(779): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0072 | 1 | 174 | 0.0057 | 786 | c.66+ others(801): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934437 | G | GGCTGCGT others(779): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0183 | 1 | 411 | 0.0024 | 786 | c.843 others(803): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| SENP7_chr3_101319205_101518212 | 101439985 | T | TGGGAGGT others(779): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0137 | 1 | 105 | 0.0095 | 786 | c.284 others(805): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1082030 | A | AGGCTTCC others(779): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0003 | 1 | 112 | 0.0089 | 786 | c.113 others(803): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 8/23 | chr5 | TogoVar | |||||||
| SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(779): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0009a0001c0001t0021a0001c0003t0014others(3): Show | a0001c0001t0009g0233 a0001c0001t0021g0207 a0001c0003t0014g0242 others(8): Show |
11 | 14 | 0.7857 | 786 | c.*12 others(799): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
| SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(779): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0051 | a0001c0051t0012 | a0001c0051t0012g0005 | 1 | 107 | 0.0093 | 786 | c.227 others(805): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
| SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(779): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0006 | a0006c0034 | a0006c0034t0012 | a0006c0034t0012g0046 | 1 | 107 | 0.0093 | 786 | c.227 others(805): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
| SMOC2_chr6_168436184_168672992 | 168659504 | G | GAGGGTGG others(779): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03492.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0173 a0001c0001t0001g0174 others(1): Show |
4 | 53 | 0.0755 | 786 | c.128 others(805): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(779): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp2 others(6): Show |
a0002a0008a0021others(1): Show | a0002c0041a0008c0031a0008c0053others(4): Show | a0002c0041t0143a0008c0031t0020a0008c0053t0020others(4): Show | a0002c0041t0143g0003 a0008c0031t0020g0095 a0008c0031t0020g0096 others(6): Show |
9 | 98 | 0.0918 | 786 | c.272 others(805): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
| SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(779): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03486.hp1 HG03486.hp2 others(1): Show |
a0001a0014a0029 | a0001c0011a0014c0030a0029c0046 | a0001c0011t0169a0014c0030t0168a0014c0030t0170others(1): Show | a0001c0011t0169g0078 a0014c0030t0168g0309 a0014c0030t0170g0086 others(1): Show |
4 | 93 | 0.0430 | 786 | c.272 others(805): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
| TCF3_chr19_1604292_1657615 | 1628289 | G | GGGGGTGA others(779): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0011 | a0003c0011t0021 | a0003c0011t0021g0139 | 1 | 350 | 0.0029 | 786 | c.299 others(801): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
| TMEM120B_chr12_121707752_121787068 | 121747269 | G | GCTGGGGT others(779): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0269 | 1 | 299 | 0.0033 | 786 | c.189 others(803): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(779): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0209 | 1 | 8 | 0.1250 | 786 | c.424 others(803): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| TRAF6_chr11_36478769_36515272 | 36507363 | C | CATACGTA others(779): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0223 | 1 | 365 | 0.0027 | 786 | c.-23 others(803): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
| TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(779): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0116 | 1 | 125 | 0.0080 | 786 | c.41- others(803): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| TWIST2_chr2_238843085_238915534 | 238870357 | A | ACACACAC others(779): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 240 | 0.0042 | 786 | c.*35 others(805): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(779): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0032 | 1 | 35 | 0.0286 | 786 | c.-28 others(805): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
| ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCCCCCT others(779): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0183 | 1 | 270 | 0.0037 | 786 | c.4-1 others(799): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |