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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP61_chr20_20047532_20365698 | 20337583 | T | TAGATGGA others(1175): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 236 | 0.0042 | 1182 | c.342 others(1201): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(1175): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0301 | 1 | 370 | 0.0027 | 1182 | c.891 others(1199): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1175): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0062 | 1 | 418 | 0.0024 | 1182 | c.738 others(1195): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132148890 | A | ACCTCGGT others(1175): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 334 | 0.0030 | 1182 | c.-45 others(1193): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4572 | chr12 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1175): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 2 | 374 | 0.0054 | 1182 | c.772 others(1197): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(1175): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(26): Show |
a0001 | a0001c0001a0001c0009a0001c0013 | a0001c0001t0001a0001c0009t0001a0001c0013t0001 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0039others(6): Show | 29 | 374 | 0.0775 | 1182 | c.772 others(1197): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1175): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0305 | 1 | 418 | 0.0024 | 1182 | c.119 others(1201): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1175): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0030 | 1 | 418 | 0.0024 | 1182 | c.119 others(1201): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1175): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0121 | 1 | 395 | 0.0025 | 1182 | c.*69 others(1193): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(1175): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03139.hp1 |
a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0038a0005c0005t0007g0087 | 3 | 400 | 0.0075 | 1182 | c.-5+ others(1195): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1175): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0088 | 1 | 400 | 0.0025 | 1182 | c.-5+ others(1195): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868142 | T | TATATTAT others(1175): Show |
upstream_gene_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 301 | 0.0033 | 1182 | c.-11 others(1193): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 847 | chr11 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997332 | A | ATGGGGGG others(1175): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 375 | 0.0027 | 1182 | c.-21 others(1193): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 338 | chr6 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1175): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18947.hp2 NA19056.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035 | a0001c0001t0001g0132a0001c0001t0001g0182a0001c0001t0035g0129 | 3 | 242 | 0.0124 | 1182 | c.174 others(1201): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1175): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0138 | 1 | 194 | 0.0052 | 1182 | c.-12 others(1201): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MYT1_chr20_64159452_64247253 | 64176227 | C | CCTGCAGC others(1175): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 223 | 0.0045 | 1182 | c.-99 others(1201): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1175): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0065 | 1 | 360 | 0.0028 | 1182 | c.456 others(1197): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0004 | a0004c0004 | a0004c0004t0016 | a0004c0004t0016g0018 | 1 | 289 | 0.0035 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00597.hp1 others(68): Show |
a0001a0002a0009others(1): Show | a0001c0005a0001c0017a0002c0002others(2): Show | a0001c0005t0017a0001c0005t0024a0001c0017t0063others(16): Show | a0001c0005t0017g0026a0001c0005t0017g0027a0001c0005t0017g0028others(65): Show | 71 | 289 | 0.2457 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02922.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0011a0004c0004t0016a0004c0004t0058others(1): Show | a0004c0004t0011g0006a0004c0004t0011g0021a0004c0004t0011g0023others(4): Show | 8 | 289 | 0.0277 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0090 | 1 | 289 | 0.0035 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02148.hp2 |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0091a0002c0002t0006g0092 | 2 | 289 | 0.0069 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02818.hp1 HG03486.hp1 |
a0002 | a0002c0006 | a0002c0006t0018a0002c0006t0065 | a0002c0006t0018g0007a0002c0006t0018g0101a0002c0006t0065g0007 | 3 | 289 | 0.0104 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0014 | a0014c0018 | a0014c0018t0068 | a0014c0018t0068g0102 | 1 | 289 | 0.0035 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1175): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02145.hp2 others(13): Show |
a0002a0007a0008 | a0002c0002a0007c0011a0008c0009 | a0002c0002t0009a0002c0002t0012a0002c0002t0018others(5): Show | a0002c0002t0009g0105a0002c0002t0009g0106a0002c0002t0009g0108others(13): Show | 16 | 289 | 0.0554 | 1182 | c.-33 others(1199): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1175): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0050 | a0050c0077 | a0050c0077t0001 | a0050c0077t0001g0123 | 1 | 282 | 0.0036 | 1182 | c.*23 others(1193): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1175): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0334 | 1 | 334 | 0.0030 | 1182 | c.45- others(1197): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SPRED2_chr2_65305851_65437599 | 65357984 | T | TAAAAAAA others(1175): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0072 | 1 | 276 | 0.0036 | 1182 | c.27- others(1199): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121185838 | C | CAGTGCTT others(1175): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0292 | 1 | 348 | 0.0029 | 1182 | c.600 others(1201): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1175): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0047 | 1 | 80 | 0.0125 | 1182 | c.497 others(1203): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TTC33_chr5_40706576_40760961 | 40707983 | C | CAAGAACA others(1175): Show |
downstream_gene_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 394 | 0.0025 | 1182 | c.*81 others(1193): Show |
TTC33 | ENSG00000113638.14 | transcript | ENST00000337702.5 | protein_coding | 3592 | chr5 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294472 | A | ACAGCCAC others(1175): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0349 | 1 | 404 | 0.0025 | 1182 | c.340 others(1199): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1175): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 404 | 0.0025 | 1182 | c.340 others(1199): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ARHGAP19_chr10_97217179_97297637 | 97251448 | G | GGAAGGGG others(1176): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0176 | 1 | 242 | 0.0041 | 1183 | c.927 others(1200): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
ASAP1_chr8_130047104_130448674 | 130049346 | C | CACATGGG others(1176): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0008 | 1 | 308 | 0.0033 | 1183 | c.*53 others(1194): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2757 | chr8 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 385163 | A | ACCCCCCA others(1176): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 184 | 0.0054 | 1183 | c.*33 others(1194): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 3047 | chr11 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(1176): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02698.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0254a0001c0001t0001g0255a0001c0001t0001g0266 | 3 | 432 | 0.0069 | 1183 | c.413 others(1200): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CENPM_chr22_41933737_41952152 | 41939818 | A | AAGAAAGA others(1176): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 258 | 0.0039 | 1183 | c.403 others(1198): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1176): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0129 | 1 | 258 | 0.0039 | 1183 | c.403 others(1198): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1176): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 258 | 0.0039 | 1183 | c.403 others(1198): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1176): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 258 | 0.0039 | 1183 | c.403 others(1198): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CFAP298_chr21_32594354_32617377 | 32610076 | A | AGTCAGGG others(1176): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0215 | 1 | 416 | 0.0024 | 1183 | c.140 others(1196): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333412 | C | CACACCGG others(1176): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 370 | 0.0027 | 1183 | c.891 others(1198): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54133865 | T | TCCCTCTC others(1176): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 | 1 | 223 | 0.0045 | 1183 | c.-41 others(1194): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3896 | chr19 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255703 | G | GAGGAAGG others(1176): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0314 | 1 | 344 | 0.0029 | 1183 | c.85- others(1200): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1176): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 418 | 0.0024 | 1183 | c.737 others(1196): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471354 | G | GTATATAT others(1176): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0030 | a0001c0002t0030g0092 | 1 | 148 | 0.0068 | 1183 | c.183 others(1202): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1176): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0203 | 1 | 252 | 0.0040 | 1183 | c.118 others(1202): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1176): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0139 | a0139c0196 | a0139c0196t0001 | a0139c0196t0001g0129 | 1 | 252 | 0.0040 | 1183 | c.118 others(1202): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514223 | C | CCTCTCTC others(1176): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0013 | a0013c0010 | a0013c0010t0004 | a0013c0010t0004g0079 | 1 | 254 | 0.0039 | 1183 | c.-84 others(1200): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |