| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| VSIG4_chrX_66016738_66045080 | 66037121 | A | AATATATA others(669): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 218 | 0.0046 | 676 | c.55+ others(691): Show |
VSIG4 | ENSG00000155659.15 | transcript | ENST00000374737.9 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(669): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 246 | 0.0041 | 676 | c.-10 others(693): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1064821 | C | CATGTTCC others(670): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0047 | a0001c0006t0047g0227 | 1 | 337 | 0.0030 | 677 | c.118 others(696): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| ACER1_chr19_6301142_6338612 | 6318734 | T | TGAGATCG others(670): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0320 | 1 | 396 | 0.0025 | 677 | c.94- others(692): Show |
ACER1 | ENSG00000167769.5 | transcript | ENST00000301452.5 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(670): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0175 | 2 | 182 | 0.0110 | 677 | c.505 others(696): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(670): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 182 | 0.0055 | 677 | c.505 others(696): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(670): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0004 | 1 | 182 | 0.0055 | 677 | c.505 others(696): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACATTG others(670): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 182 | 0.0055 | 677 | c.505 others(696): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
| AK3_chr9_4704556_4746202 | 4714097 | C | CGCCTACA others(670): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0084 | 1 | 462 | 0.0022 | 677 | c.564 others(694): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
| C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAG others(670): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0326 | 1 | 326 | 0.0031 | 677 | c.327 others(694): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTGTCCAT others(670): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02572.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0034 | 2 | 400 | 0.0050 | 677 | c.-99 others(692): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
| C11orf24_chr11_68256338_68276973 | 68264684 | C | CTGTCCAT others(670): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02040.hp2 NA18943.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0013a0002c0001t0001g0074 | 6 | 400 | 0.0150 | 677 | c.-99 others(692): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
| CCDC183_chr9_136791338_136812741 | 136802944 | G | GGGGGCCC others(670): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0321 | 1 | 398 | 0.0025 | 677 | c.666 others(692): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803085 | C | CCCCCCAG others(670): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 2 | 398 | 0.0050 | 677 | c.666 others(692): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CCDC183_chr9_136791338_136812741 | 136803145 | G | GCCGGGGG others(670): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 398 | 0.0025 | 677 | c.666 others(692): Show |
CCDC183 | ENSG00000213213.14 | transcript | ENST00000338005.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(670): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0010others(29): Show | a0001c0001t0004g0105a0001c0001t0004g0114a0001c0001t0004g0123others(66): Show | 69 | 322 | 0.2143 | 677 | c.165 others(694): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(670): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0134a0001c0001t0039g0135 | 2 | 322 | 0.0062 | 677 | c.165 others(694): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CD2AP_chr6_47472789_47632263 | 47505616 | G | GGGGGGCC others(670): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0071a0001c0001t0076 | a0001c0001t0071g0205a0001c0001t0076g0206 | 2 | 322 | 0.0062 | 677 | c.165 others(694): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDHR2_chr5_176544342_176600824 | 176591943 | A | ATGATGGT others(670): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 344 | 0.0029 | 677 | c.373 others(694): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1245281 | A | ATATATAT others(670): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0050 | 1 | 232 | 0.0043 | 677 | c.358 others(696): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(670): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 344 | 0.0029 | 677 | c.85- others(694): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| CROCC2_chr2_240901336_240998311 | 240924126 | A | AACCCAGC others(670): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 350 | 0.0029 | 677 | c.488 others(694): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CTU2_chr16_88701503_88720396 | 88713084 | C | CCTGAGAG others(670): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0149 | 1 | 418 | 0.0024 | 677 | c.737 others(692): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | chr16 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 400472 | C | CCACCTCC others(670): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0138 | a0003c0138t0001 | a0003c0138t0001g0143 | 1 | 256 | 0.0039 | 677 | c.323 others(696): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| FLT3_chr13_27998274_28105576 | 27998958 | A | AATATATA others(670): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0017 | 1 | 292 | 0.0034 | 677 | c.*50 others(688): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4315 | chr13 | TogoVar | ||||||
| FLT3_chr13_27998274_28105576 | 27999091 | G | GTATGTAT others(670): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0195 | 1 | 292 | 0.0034 | 677 | c.*49 others(688): Show |
FLT3 | ENSG00000122025.15 | transcript | ENST00000241453.12 | protein_coding | 4182 | chr13 | TogoVar | ||||||
| GALNT9_chr12_132191372_132334589 | 132242181 | T | TACACATT others(670): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 183 | 0.0055 | 677 | c.107 others(696): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(670): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0141 | 1 | 143 | 0.0070 | 677 | c.*35 others(688): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | ||||||
| GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(670): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0047 | 1 | 143 | 0.0070 | 677 | c.*35 others(688): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55032940 | C | CTCGTTCG others(670): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02280.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0093a0002c0004t0001g0105 | 2 | 441 | 0.0045 | 677 | c.35- others(690): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55032940 | C | CTCGTTCG others(670): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0088 | 1 | 441 | 0.0023 | 677 | c.35- others(690): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55032940 | C | CTCGTTCG others(670): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0104 | 1 | 441 | 0.0023 | 677 | c.35- others(690): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55032940 | C | CTCGTTCG others(670): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03471.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0003 | a0001c0001t0001g0214a0003c0003t0003g0249 | 2 | 441 | 0.0045 | 677 | c.35- others(690): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | ||||||
| GREB1_chr2_11529045_11647788 | 11637073 | G | GGGGCAGG others(670): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0006 | a0006c0014 | a0006c0014t0003 | a0006c0014t0003g0060 | 1 | 308 | 0.0033 | 677 | c.534 others(694): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 30/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(670): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0302 | 1 | 350 | 0.0029 | 677 | c.94- others(690): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| INPP5A_chr10_132532787_132788480 | 132775141 | A | AGAGGGGC others(670): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01123.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0005 | a0001c0001t0001g0178a0002c0002t0005g0063a0002c0002t0005g0064others(1): Show | 4 | 204 | 0.0196 | 677 | c.978 others(694): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| KCNG2_chr18_79792938_79905100 | 79885924 | T | TAGGGATG others(670): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0289 | 1 | 312 | 0.0032 | 677 | c.625 others(696): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885924 | T | TAGGGATG others(670): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01943.hp1 HG01981.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0050a0002c0002t0002g0032a0002c0002t0002g0062others(18): Show | 21 | 312 | 0.0673 | 677 | c.625 others(696): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885924 | T | TAGGGATG others(670): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0259 | 1 | 312 | 0.0032 | 677 | c.625 others(696): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885924 | T | TAGGGATG others(670): Show |
intron_variant | MODIFIER | NA18945.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093a0002c0002t0002g0102 | 2 | 312 | 0.0064 | 677 | c.625 others(696): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
| KCNG2_chr18_79792938_79905100 | 79885924 | T | TAGGGATG others(670): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0287 | 1 | 312 | 0.0032 | 677 | c.625 others(696): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | chr18 | TogoVar | ||||||
| KCNQ2_chr20_63395208_63477655 | 63442902 | C | CCACCACC others(670): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02132.hp2 HG03831.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0092 | a0001c0002t0004g0175a0001c0002t0004g0176a0001c0002t0092g0049 | 3 | 330 | 0.0091 | 677 | c.691 others(692): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(670): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0098 | 1 | 286 | 0.0035 | 677 | c.*52 others(688): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(670): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00609.hp2 others(3): Show |
a0001a0004a0005 | a0001c0011a0001c0068a0004c0041others(3): Show | a0001c0011t0002a0001c0068t0003a0004c0041t0004others(3): Show | a0001c0011t0002g0003a0001c0068t0003g0069a0004c0041t0004g0059others(3): Show | 6 | 88 | 0.0682 | 677 | c.507 others(696): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 857751 | G | GAGTGGTG others(670): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0061 | a0008c0061t0003 | a0008c0061t0003g0210 | 1 | 294 | 0.0034 | 677 | c.153 others(696): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(670): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0058 | 1 | 140 | 0.0071 | 677 | c.114 others(696): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(670): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0119 | 1 | 140 | 0.0071 | 677 | c.114 others(696): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(670): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0112a0004c0009t0005g0113 | 2 | 170 | 0.0118 | 677 | c.166 others(696): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| NGEF_chr2_232873701_233018256 | 232995356 | C | CTGTGTAC others(670): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0006 | a0002c0006t0008 | a0002c0006t0008g0096 | 1 | 362 | 0.0028 | 677 | c.-75 others(696): Show |
NGEF | ENSG00000066248.15 | transcript | ENST00000264051.8 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| NOTCH1_chr9_136489433_136551048 | 136528441 | A | AGGGGGGG others(670): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0025 | a0001c0025t0016 | a0001c0025t0016g0169 | 1 | 324 | 0.0031 | 677 | c.141 others(694): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |