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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(891): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0008 | 1 | 46 | 0.0217 | 898 | c.-17 others(917): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241349 | C | CCCCTTCC others(891): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0183 | 1 | 183 | 0.0055 | 898 | c.107 others(917): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241477 | G | GCCACACA others(891): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 183 | 0.0055 | 898 | c.107 others(917): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0214 | 1 | 323 | 0.0031 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0215 | 1 | 323 | 0.0031 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(891): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0247 | 1 | 323 | 0.0031 | 898 | c.-36 others(909): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(891): Show |
intron_variant | MODIFIER | NA18965.hp1 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0003g0025 | 2 | 236 | 0.0085 | 898 | c.193 others(917): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859860 | G | GAGTGGTG others(891): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0010 | a0010c0056 | a0010c0056t0009 | a0010c0056t0009g0136 | 1 | 294 | 0.0034 | 898 | c.153 others(917): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 961564 | G | GACAGACT others(891): Show |
intron_variant | MODIFIER | HG03453.hp2 HG06807.hp2 |
a0011 | a0011c0038a0011c0039 | a0011c0038t0001a0011c0039t0002 | a0011c0038t0001g0245a0011c0039t0002g0264 | 2 | 294 | 0.0068 | 898 | c.194 others(915): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(891): Show |
upstream_gene_variant | MODIFIER | NA18994.hp2 NA19003.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0001 | 2 | 422 | 0.0047 | 898 | c.-29 others(909): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
MAP9_chr4_155337658_155381965 | 155349288 | G | GGAAGAGG others(891): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0063 | 1 | 416 | 0.0024 | 898 | c.182 others(917): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0006 | a0006c0008 | a0006c0008t0015 | a0006c0008t0015g0231 | 1 | 272 | 0.0037 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0006 | a0006c0008 | a0006c0008t0015 | a0006c0008t0015g0233 | 1 | 272 | 0.0037 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(891): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 272 | 0.0037 | 898 | c.250 others(913): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195760478 | G | GCTAGGAT others(891): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0134 | a0134c0105 | a0134c0105t0001 | a0134c0105t0001g0139 | 1 | 249 | 0.0040 | 898 | c.148 others(917): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 16/24 | chr3 | TogoVar | ||||||
NEDD4L_chr18_58039226_58406539 | 58209261 | T | TCCTCCCC others(891): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(3): Show | a0001c0001t0001g0107a0001c0001t0009g0003a0001c0001t0013g0089others(3): Show | 6 | 118 | 0.0509 | 898 | c.123 others(917): Show |
NEDD4L | ENSG00000049759.20 | transcript | ENST00000400345.8 | protein_coding | 2/30 | chr18 | TogoVar | ||||||
NRIP1_chr21_14956235_15070000 | 15031631 | T | TGGAAGGC others(891): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18980.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0028a0002c0003t0003g0060 | 2 | 398 | 0.0050 | 898 | c.-45 others(919): Show |
NRIP1 | ENSG00000180530.11 | transcript | ENST00000318948.7 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGC others(891): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0173 | 1 | 242 | 0.0041 | 898 | c.360 others(917): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(891): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0053 | 1 | 308 | 0.0033 | 898 | c.371 others(915): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(891): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0009 | a0009c0013 | a0009c0013t0001 | a0009c0013t0001g0076 | 1 | 308 | 0.0033 | 898 | c.371 others(915): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325107 | A | AGTGAGTG others(891): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0197 | 1 | 398 | 0.0025 | 898 | c.194 others(915): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(891): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 380 | 0.0026 | 898 | c.-28 others(909): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGG others(891): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0040 | 1 | 295 | 0.0034 | 898 | c.126 others(917): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492477 | C | CCCAGGGC others(891): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0106 | 1 | 295 | 0.0034 | 898 | c.126 others(917): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(891): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0008 | a0001c0001t0003g0041a0001c0001t0004g0040a0001c0001t0008g0034 | 3 | 68 | 0.0441 | 898 | c.27+ others(915): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RBPMS_chr8_30379541_30577256 | 30388469 | T | TTATAGCT others(891): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0143 | 1 | 304 | 0.0033 | 898 | c.66+ others(913): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(891): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0143 | 1 | 334 | 0.0030 | 898 | c.45- others(913): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 304161 | G | GGTGGGGA others(891): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0007 | 1 | 133 | 0.0075 | 898 | c.351 others(917): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(891): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 133 | 0.0075 | 898 | c.351 others(917): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971120 | T | TGAGGAGG others(891): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0119 | 1 | 384 | 0.0026 | 898 | c.157 others(917): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SERPINF2_chr17_1737871_1760265 | 1741764 | A | AGCAGGAC others(891): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 445 | 0.0023 | 898 | c.-11 others(909): Show |
SERPINF2 | ENSG00000167711.14 | transcript | ENST00000453066.6 | protein_coding | 1106 | chr17 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852292 | C | CCCACCCC others(891): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0018 | 1 | 356 | 0.0028 | 898 | c.645 others(915): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852527 | C | CTCACCCC others(891): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279a0001c0001t0001g0280a0001c0001t0001g0281 | 3 | 356 | 0.0084 | 898 | c.646 others(915): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273323 | T | TTATATAT others(891): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0006 | 1 | 272 | 0.0037 | 898 | c.*28 others(909): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2210 | chr11 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3221982 | T | TCACCACC others(891): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 360 | 0.0028 | 898 | c.*27 others(909): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2294 | chr6 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23042957 | T | TGGGGGGA others(891): Show |
upstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0028 | 1 | 351 | 0.0029 | 898 | c.-34 others(909): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3389 | chr15 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196786 | A | ATATATTT others(891): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0044 | a0002c0044t0002 | a0002c0044t0002g0073 | 1 | 204 | 0.0049 | 898 | c.213 others(917): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
WDR81_chr17_1719704_1743585 | 1741764 | A | AGCAGGAC others(891): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 NA19030.hp1 NA20300.hp1 |
a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0002a0001c0013t0003g0057 | 3 | 431 | 0.0070 | 898 | c.*40 others(909): Show |
WDR81 | ENSG00000167716.19 | transcript | ENST00000409644.6 | protein_coding | 3180 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173286 | C | CCAACACA others(892): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0028 | 1 | 337 | 0.0030 | 899 | c.61+ others(914): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585204 | A | ATTGAGGG others(892): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0237 | 1 | 354 | 0.0028 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585358 | G | GAGGAGGG others(892): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0002 | 2 | 354 | 0.0057 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585360 | G | GGAGGGTA others(892): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0030 | 1 | 354 | 0.0028 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
C4orf19_chr4_37448925_37598510 | 37585525 | T | TGAGGGAG others(892): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 354 | 0.0028 | 899 | c.-22 others(916): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(892): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0227 | 1 | 270 | 0.0037 | 899 | c.162 others(920): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0231 | 1 | 320 | 0.0031 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(70): Show |
a0001a0002a0008 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0022a0001c0001t0001g0166a0001c0001t0001g0194others(70): Show | 73 | 320 | 0.2281 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 320 | 0.0031 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225a0001c0001t0002g0245a0001c0001t0002g0252 | 3 | 320 | 0.0094 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 320 | 0.0031 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(892): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 320 | 0.0031 | 899 | c.937 others(914): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |