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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(930): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 228 | 0.0044 | 937 | c.127 others(954): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(930): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02717.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0195a0001c0003t0001g0216 | 2 | 228 | 0.0088 | 937 | c.127 others(954): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876196 | T | TTCCCCCT others(930): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0006 | a0003c0006t0018 | a0003c0006t0018g0116 | 1 | 246 | 0.0041 | 937 | c.-10 others(954): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ZNF469_chr16_88377959_88445753 | 88380922 | A | ACATGCAC others(930): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0056 | a0056c0071 | a0056c0071t0010 | a0056c0071t0010g0078 | 1 | 354 | 0.0028 | 937 | c.-25 others(948): Show |
ZNF469 | ENSG00000225614.4 | transcript | ENST00000565624.3 | protein_coding | 2036 | chr16 | TogoVar | ||||||
ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(931): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 306 | 0.0033 | 938 | c.130 others(957): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(931): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 248 | 0.0040 | 938 | c.387 others(957): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | AGACCCAT others(931): Show |
intron_variant | MODIFIER | NA19011.hp2 NA19088.hp1 |
a0003a0005 | a0003c0008a0005c0019 | a0003c0008t0002a0005c0019t0002 | a0003c0008t0002g0207a0005c0019t0002g0223 | 2 | 248 | 0.0081 | 938 | c.387 others(957): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1064632 | G | GTGAACTG others(931): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0238 | 1 | 337 | 0.0030 | 938 | c.118 others(957): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173269 | A | ACATCACC others(931): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0319 | 1 | 337 | 0.0030 | 938 | c.61+ others(953): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289346 | T | TCTGCCCC others(931): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 295 | 0.0034 | 938 | c.*42 others(949): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3044 | chr1 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 182 | 0.0055 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0118 | 1 | 182 | 0.0055 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0112a0001c0001t0004g0139 | 2 | 182 | 0.0110 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 182 | 0.0055 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02622.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0003 | a0001c0003t0001g0168a0002c0002t0003g0058 | 2 | 182 | 0.0110 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72456228 | G | GTACTCTA others(931): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0102 | 1 | 182 | 0.0055 | 938 | c.505 others(957): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581253 | T | TACGTATA others(931): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0008 | 1 | 169 | 0.0059 | 938 | c.48- others(955): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1873433 | A | AGCCCGCG others(931): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0259 | 1 | 363 | 0.0028 | 938 | c.680 others(955): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 7/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CCDC127_chr5_191868_223153 | 209326 | C | CCACACAC others(931): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0225a0001c0002t0227 | a0001c0002t0225g0271a0001c0002t0227g0257 | 2 | 406 | 0.0049 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(931): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG02109.hp2 others(16): Show |
a0001 | a0001c0003 | a0001c0003t0038a0001c0003t0039a0001c0003t0040others(12): Show | a0001c0003t0038g0039a0001c0003t0039g0040a0001c0003t0040g0038others(12): Show | 19 | 406 | 0.0468 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CCDC127_chr5_191868_223153 | 209666 | C | CACATCAT others(931): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0201 | a0001c0003t0201g0244 | 1 | 406 | 0.0025 | 938 | c.122 others(955): Show |
CCDC127 | ENSG00000164366.4 | transcript | ENST00000296824.4 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0275 | 1 | 418 | 0.0024 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004 | a0001c0002t0002g0277a0001c0002t0002g0293a0001c0002t0004g0154 | 3 | 418 | 0.0072 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01167.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0006 | a0001c0002t0002g0039a0001c0002t0002g0085a0001c0002t0002g0105others(12): Show | 16 | 418 | 0.0383 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(931): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0041 | 2 | 418 | 0.0048 | 938 | c.*51 others(949): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | ||||||
CDH4_chr20_61247261_61945617 | 61331583 | C | CCCAGGCC others(931): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0022 | a0001c0022t0042 | a0001c0022t0042g0072 | 1 | 106 | 0.0094 | 938 | c.169 others(957): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(931): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0014 | a0009c0014t0006 | a0009c0014t0006g0007 | 1 | 236 | 0.0042 | 938 | c.342 others(957): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGATAGA others(931): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG03225.hp1 others(1): Show |
a0001a0007 | a0001c0001a0001c0026a0007c0010 | a0001c0001t0003a0001c0026t0001a0007c0010t0003 | a0001c0001t0003g0090a0001c0001t0003g0093a0001c0026t0001g0141others(1): Show | 4 | 236 | 0.0170 | 938 | c.342 others(957): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(931): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0248a0001c0001t0001g0249others(20): Show | 26 | 370 | 0.0703 | 938 | c.891 others(955): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(931): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 370 | 0.0027 | 938 | c.891 others(955): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(931): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0161 | 1 | 320 | 0.0031 | 938 | c.380 others(955): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CPNE4_chr3_131528569_132040014 | 131978121 | A | ATTATTAT others(931): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 94 | 0.0106 | 938 | c.-2+ others(955): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(931): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 396 | 0.0025 | 938 | c.513 others(955): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634652 | C | CTCCCTTC others(931): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 250 | 0.0040 | 938 | c.105 others(955): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGA others(931): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0336 | 1 | 418 | 0.0024 | 938 | c.119 others(957): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218343 | C | CCCCAACA others(931): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0015 | 1 | 106 | 0.0094 | 938 | c.*28 others(949): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1174 | chr8 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322337 | A | ATATATGC others(931): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 323 | 0.0031 | 938 | c.-27 others(949): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2632 | chr21 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 858964 | C | CAGTGGTG others(931): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0067 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0074 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0016 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859063 | G | GTGTCTCG others(931): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859094 | G | GGACGGGT others(931): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0110 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859118 | G | GGACGGGT others(931): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0075 | 1 | 294 | 0.0034 | 938 | c.153 others(957): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0181 | 1 | 296 | 0.0034 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19066.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0003a0002c0003t0003 | a0001c0004t0003g0216a0002c0003t0003g0069 | 2 | 296 | 0.0068 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(931): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02280.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0136a0001c0001t0001g0145others(2): Show | 6 | 296 | 0.0203 | 938 | c.368 others(955): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
MAD1L1_chr7_1810795_2237945 | 1930522 | T | TGCCACGT others(931): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 264 | 0.0038 | 938 | c.180 others(957): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 17/18 | chr7 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(931): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0024 | 1 | 278 | 0.0036 | 938 | c.115 others(955): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(931): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0101 | 1 | 272 | 0.0037 | 938 | c.250 others(953): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528378 | A | ATGGGCAG others(931): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01891.hp2 HG03453.hp1 |
a0001 | a0001c0028a0001c0059 | a0001c0028t0001a0001c0028t0002a0001c0059t0004 | a0001c0028t0001g0202a0001c0028t0002g0127a0001c0059t0004g0125 | 3 | 324 | 0.0093 | 938 | c.141 others(955): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar |