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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPCAL1_chr2_10297904_10432604 | 10399442 | T | TCACCACC others(935): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 248 | 0.0040 | 942 | c.-25 others(959): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TTCCCCTC others(935): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG01255.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0019 a0001c0001t0008g0020 a0001c0001t0008g0125 |
3 | 126 | 0.0238 | 942 | c.*65 others(953): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739140 | C | CCATCCAC others(935): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0298 | 1 | 377 | 0.0027 | 942 | c.507 others(959): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 923003 | G | GTTGGTGT others(935): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01258.hp2 HG02683.hp1 others(1): Show |
a0001 | a0001c0010a0001c0033 | a0001c0010t0001a0001c0033t0001 | a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0277 others(1): Show |
4 | 277 | 0.0144 | 942 | c.514 others(961): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(935): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0008 | a0008c0018 | a0008c0018t0006 | a0008c0018t0006g0013 | 1 | 6 | 0.1667 | 942 | c.209 others(957): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(935): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0258 | 1 | 210 | 0.0048 | 942 | c.-5+ others(957): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189618 | A | ATATATAT others(935): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0259 | 1 | 295 | 0.0034 | 942 | c.-5+ others(957): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535783 | A | AGGGGAGC others(935): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18522.hp2 |
a0015a0020 | a0015c0033a0020c0039 | a0015c0033t0003a0020c0039t0001 | a0015c0033t0003g0263 a0020c0039t0001g0264 |
2 | 238 | 0.0084 | 942 | c.140 others(959): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(935): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 942 | c.*31 others(953): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(935): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 135 | 0.0074 | 942 | c.*31 others(953): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(935): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 24 | 0.0417 | 942 | c.371 others(959): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(935): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 19 | 0.0526 | 942 | c.24+ others(959): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(935): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0146 | 1 | 290 | 0.0034 | 942 | c.-51 others(953): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136803080 | G | GGGGGCCC others(935): Show |
upstream_gene_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0264 | 1 | 290 | 0.0034 | 942 | c.-51 others(953): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 4867 | chr9 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(935): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 119 | 0.0084 | 942 | c.389 others(963): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315142 | C | CCACTAAC others(935): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010 | a0001c0001t0006g0095 a0001c0001t0010g0129 |
2 | 132 | 0.0152 | 942 | c.351 others(959): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382277 | A | AGTGATGG others(935): Show |
upstream_gene_variant | MODIFIER | NA18963.hp2 NA19009.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 409 | 0.0073 | 942 | c.-48 others(953): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4825 | chr20 | TogoVar | |||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(935): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02486.hp1 HG02615.hp1 others(3): Show |
a0011a0013a0017 | a0011c0015a0013c0017a0017c0018 | a0011c0015t0001a0013c0017t0001a0017c0018t0001 | a0011c0015t0001g0068 a0011c0015t0001g0107 a0011c0015t0001g0109 others(3): Show |
6 | 99 | 0.0606 | 942 | c.266 others(959): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(935): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0011 | a0011c0024 | a0011c0024t0001 | a0011c0024t0001g0108 | 1 | 94 | 0.0106 | 942 | c.266 others(959): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328680 | T | TGTGTGTG others(935): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0100 | 1 | 206 | 0.0049 | 942 | c.199 others(959): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870237 | C | CACCCTAC others(935): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 320 | 0.0031 | 942 | c.*35 others(961): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
WASHC2A_chr10_50062954_50138509 | 50066625 | T | TCTAAGCA others(935): Show |
upstream_gene_variant | MODIFIER | HG00735.hp1 HG01192.hp1 HG02559.hp1 others(2): Show |
a0008a0020a0036 | a0008c0011a0020c0052a0036c0051 | a0008c0011t0001a0020c0052t0001a0036c0051t0001 | a0008c0011t0001g0012 a0008c0011t0001g0020 a0008c0011t0001g0022 others(2): Show |
5 | 302 | 0.0166 | 942 | c.-13 others(953): Show |
WASHC2A | ENSG00000099290.17 | transcript | ENST00000282633.10 | protein_coding | 1328 | chr10 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876192 | C | CCCTTCCC others(935): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 106 | 0.0094 | 942 | c.-10 others(959): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(936): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02970.hp2 |
a0007a0014 | a0007c0043a0014c0056 | a0007c0043t0009a0014c0056t0009 | a0007c0043t0009g0117 a0014c0056t0009g0089 |
2 | 13 | 0.1538 | 943 | c.387 others(962): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(936): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0246 | 1 | 12 | 0.0833 | 943 | c.387 others(962): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(936): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0022 | 1 | 25 | 0.0400 | 943 | c.259 others(964): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0148 | 1 | 30 | 0.0333 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18950.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177 a0001c0001t0002g0147 |
2 | 31 | 0.0645 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTATA others(936): Show |
intron_variant | MODIFIER | NA18951.hp2 NA18971.hp2 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0019g0146 |
3 | 32 | 0.0938 | 943 | c.505 others(962): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(936): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0009 | 1 | 3 | 0.3333 | 943 | c.787 others(958): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251696 | G | GAGGGAGG others(936): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 233 | 0.0043 | 943 | c.927 others(960): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539583 | C | TTTCATAA others(936): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0013 | 1 | 85 | 0.0118 | 943 | c.139 others(964): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | chr12 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(936): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0162 | 1 | 70 | 0.0143 | 943 | c.*51 others(954): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(936): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG02258.hp1 HG02280.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0003a0002c0004t0003 | a0001c0001t0001g0027 a0001c0001t0003g0018 a0001c0001t0003g0089 others(1): Show |
4 | 73 | 0.0548 | 943 | c.*51 others(954): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
DCLK2_chr4_150073445_150262438 | 150251112 | A | ACACATCC others(936): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 102 | 0.0098 | 943 | c.207 others(962): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89619208 | C | CTCCCTGC others(936): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 219 | 0.0046 | 943 | c.-10 others(962): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(936): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 132 | 0.0076 | 943 | c.94- others(956): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186119 | G | GGAGGAAC others(936): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 338 | 0.0030 | 943 | c.*50 others(954): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4941 | chr16 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352866 | T | TAATATAT others(936): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0005 | a0003c0005t0020 | a0003c0005t0020g0045 | 1 | 241 | 0.0041 | 943 | c.-35 others(954): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2929 | chr2 | TogoVar | |||||||
IL1RL1_chr2_102306563_102357037 | 102352866 | T | TAATATAT others(936): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0015 | a0015c0016 | a0015c0016t0004 | a0015c0016t0004g0117 | 1 | 229 | 0.0044 | 943 | c.*94 others(952): Show |
IL1RL1 | ENSG00000115602.17 | transcript | ENST00000233954.6 | protein_coding | 830 | chr2 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(936): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 13 | 0.0769 | 943 | c.978 others(960): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(936): Show |
intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0018 | a0001c0001t0002g0034 a0001c0005t0018g0084 |
2 | 17 | 0.1176 | 943 | c.56- others(960): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186119 | G | GGAGGAAC others(936): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 310 | 0.0032 | 943 | c.*30 others(954): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2870 | chr16 | TogoVar | |||||||
MCF2L_chr13_112964214_113104742 | 112972798 | T | TGGATGGA others(936): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02109.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0069 a0001c0002t0001g0068 |
2 | 49 | 0.0408 | 943 | c.79+ others(958): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 112972798 | T | TGGATGGA others(936): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0039 | 1 | 48 | 0.0208 | 943 | c.79+ others(958): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 112972798 | T | TGGATGGA others(936): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01346.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0113 a0001c0001t0002g0116 a0001c0001t0006g0108 others(12): Show |
15 | 62 | 0.2419 | 943 | c.79+ others(958): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(936): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0026 | a0003c0026t0030 | a0003c0026t0030g0269 | 1 | 8 | 0.1250 | 943 | c.115 others(960): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926744 | G | GAAGGAGG others(936): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 267 | 0.0037 | 943 | c.250 others(958): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(936): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 64 | 0.0156 | 943 | c.225 others(960): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432876 | A | AAAGGGAG others(936): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0027 | a0001c0003t0027g0213 | 1 | 131 | 0.0076 | 943 | c.225 others(960): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar |