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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDPR_chr16_70109332_70167537 | 70117253 | G | GCCTGTAA others(1176): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0046 | 1 | 289 | 0.0035 | 1183 | c.-33 others(1200): 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(1176): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 289 | 0.0035 | 1183 | c.-33 others(1200): 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(1176): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0093 | 1 | 289 | 0.0035 | 1183 | c.-33 others(1200): Show |
PDPR | ENSG00000090857.14 | transcript | ENST00000288050.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1176): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0062 | 1 | 282 | 0.0036 | 1183 | c.*26 others(1194): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
SPRED2_chr2_65305851_65437599 | 65357984 | T | TAAAAAAA others(1176): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0073 | 1 | 276 | 0.0036 | 1183 | c.27- others(1200): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628667 | G | GGGGGTGA others(1176): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0155 | 1 | 352 | 0.0028 | 1183 | c.299 others(1200): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028613 | G | GTCCTAAA others(1176): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0088 | 1 | 224 | 0.0045 | 1183 | c.225 others(1202): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028754 | C | CCCCCACA others(1176): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02155.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0096a0003c0003t0001g0097 | 2 | 224 | 0.0089 | 1183 | c.225 others(1202): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23040803 | C | CTGGGGGG others(1176): Show |
upstream_gene_variant | MODIFIER | NA18952.hp1 NA19081.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 2 | 351 | 0.0057 | 1183 | c.-12 others(1194): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1235 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23040803 | C | CTGGGGGG others(1176): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 HG02572.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030a0001c0001t0003g0274a0001c0001t0003g0275others(1): Show | 5 | 351 | 0.0143 | 1183 | c.-12 others(1194): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1235 | chr15 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23040803 | C | CTGGGGGG others(1176): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0284a0001c0001t0003g0285a0001c0001t0003g0286 | 3 | 351 | 0.0086 | 1183 | c.-12 others(1194): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 1235 | chr15 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACAC others(1176): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 404 | 0.0025 | 1183 | c.340 others(1200): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1177): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0065 | 1 | 210 | 0.0048 | 1184 | c.273 others(1201): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 410763 | G | GTCCTGGG others(1177): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0091 | 1 | 322 | 0.0031 | 1184 | c.-17 others(1195): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1617 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411082 | C | CCTGCTGG others(1177): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0142 | a0001c0001t0142g0050 | 1 | 322 | 0.0031 | 1184 | c.-21 others(1195): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1936 | chr19 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1177): Show |
intron_variant | MODIFIER | NA18949.hp2 NA18990.hp1 NA19087.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0009 | a0001c0002t0004g0257a0001c0002t0009g0255a0001c0002t0009g0256 | 3 | 376 | 0.0080 | 1184 | c.63+ others(1197): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 421529 | A | ACACACAT others(1177): Show |
intron_variant | MODIFIER | HG02683.hp2 NA18959.hp1 NA18959.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0164a0001c0001t0001g0263a0001c0001t0001g0314others(2): Show | 5 | 432 | 0.0116 | 1184 | c.413 others(1201): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1177): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0018 | a0018c0036 | a0018c0036t0026 | a0018c0036t0026g0145 | 1 | 334 | 0.0030 | 1184 | c.-25 others(1195): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1177): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 258 | 0.0039 | 1184 | c.403 others(1199): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1177): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 258 | 0.0039 | 1184 | c.403 others(1199): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(1177): Show |
intron_variant | MODIFIER | HG03942.hp2 NA18993.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0229a0001c0005t0001g0230 | 2 | 448 | 0.0045 | 1184 | c.51+ others(1199): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
COMMD9_chr11_36267292_36294424 | 36287054 | A | ACTACATA others(1177): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0143 | 1 | 448 | 0.0022 | 1184 | c.51+ others(1199): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(1177): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0016 | a0004c0016t0003 | a0004c0016t0003g0178 | 1 | 216 | 0.0046 | 1184 | c.923 others(1203): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1177): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0031 | a0001c0031t0001 | a0001c0031t0001g0163 | 1 | 252 | 0.0040 | 1184 | c.118 others(1203): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400934 | T | TCACCACC others(1177): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0009 | a0009c0017 | a0009c0017t0003 | a0009c0017t0003g0020 | 1 | 256 | 0.0039 | 1184 | c.323 others(1203): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
FNDC10_chr1_1593012_1605135 | 1595237 | A | ACACAGAG others(1177): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0000 | 1 | 406 | 0.0025 | 1184 | c.*40 others(1195): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2774 | chr1 | TogoVar | ||||||
FNDC10_chr1_1593012_1605135 | 1595237 | A | ACACAGAG others(1177): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 1184 | c.*40 others(1195): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2774 | chr1 | TogoVar | ||||||
FNDC10_chr1_1593012_1605135 | 1595237 | A | ACACAGAG others(1177): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0000 | 1 | 406 | 0.0025 | 1184 | c.*40 others(1195): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2774 | chr1 | TogoVar | ||||||
FNDC10_chr1_1593012_1605135 | 1595237 | A | ACACAGAG others(1177): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(81): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0010g0000others(3): Show | 84 | 406 | 0.2069 | 1184 | c.*40 others(1195): Show |
FNDC10 | ENSG00000228594.4 | transcript | ENST00000422725.4 | protein_coding | 2774 | chr1 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218313 | A | AACACCAC others(1177): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 106 | 0.0094 | 1184 | c.*27 others(1195): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1144 | chr8 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1177): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 242 | 0.0041 | 1184 | c.174 others(1203): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(1177): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0355 | 1 | 368 | 0.0027 | 1184 | c.353 others(1201): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MGMT_chr10_129462241_129775983 | 129518568 | C | CCCTGCCC others(1177): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0106 | 1 | 194 | 0.0052 | 1184 | c.-12 others(1203): Show |
MGMT | ENSG00000170430.10 | transcript | ENST00000651593.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195771402 | C | CGGGTTGG others(1177): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0097 | a0097c0129 | a0097c0129t0002 | a0097c0129t0002g0188 | 1 | 249 | 0.0040 | 1184 | c.132 others(1203): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 5/24 | chr3 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(1177): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0044 | 1 | 326 | 0.0031 | 1184 | c.358 others(1201): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150453 | C | CACCACAC others(1177): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0276 | 1 | 294 | 0.0034 | 1184 | c.902 others(1199): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLA2G4C_chr19_48042846_48115817 | 48043533 | C | CCACCATC others(1177): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0288 | 1 | 322 | 0.0031 | 1184 | c.*48 others(1195): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 4312 | chr19 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495152 | C | CTATAGTA others(1177): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 322 | 0.0031 | 1184 | c.-93 others(1201): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1177): Show |
intron_variant | MODIFIER | HG01081.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0103a0001c0007t0001g0105 | 2 | 203 | 0.0099 | 1184 | c.167 others(1199): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260913 | G | GAGCATTA others(1177): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0003 | 1 | 266 | 0.0038 | 1184 | c.*44 others(1195): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3832 | chr5 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(1177): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0011 | 1 | 324 | 0.0031 | 1184 | c.115 others(1201): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197098 | C | CATCTACC others(1177): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0003 | a0002c0003t0012 | a0002c0003t0012g0324 | 1 | 420 | 0.0024 | 1184 | c.107 others(1201): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637511 | T | TTATATAT others(1177): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0134 | 2 | 268 | 0.0075 | 1184 | c.*73 others(1195): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3977 | chr10 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1177): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 268 | 0.0037 | 1184 | c.*73 others(1195): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377502 | C | CCCCACCC others(1177): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0271 | 1 | 370 | 0.0027 | 1184 | c.-15 others(1195): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1477 | chr19 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(1177): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 314 | 0.0032 | 1184 | c.189 others(1199): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747431 | G | GCTGGGGT others(1177): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0273 | 1 | 314 | 0.0032 | 1184 | c.189 others(1199): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TUBGCP5_chr15_22994177_23044569 | 23042697 | T | TGGGGGAC others(1177): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 351 | 0.0029 | 1184 | c.-31 others(1195): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3129 | chr15 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292704 | G | GCAAGTTA others(1177): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0292 | 1 | 404 | 0.0025 | 1184 | c.339 others(1201): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
YBEY_chr21_46281342_46302751 | 46293214 | A | ACAGCTAC others(1177): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0228 | 1 | 404 | 0.0025 | 1184 | c.339 others(1201): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |