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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45896875 | C | CGGCACAT others(229): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 292 | 0.0034 | 236 | c.165 others(251): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45896875 | C | CGGCACAT others(229): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp1 others(87): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(5): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(87): Show | 90 | 292 | 0.3082 | 236 | c.165 others(251): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45896903 | T | TGGGCCAT others(229): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0263a0001c0001t0004g0002 | 2 | 292 | 0.0069 | 236 | c.165 others(251): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136299756 | G | GTATGTAT others(229): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0012 | 2 | 300 | 0.0067 | 236 | c.885 others(253): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0257 | 1 | 268 | 0.0037 | 236 | c.242 others(257): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 272 | 0.0037 | 236 | c.242 others(257): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0035 | 1 | 270 | 0.0037 | 236 | c.242 others(257): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA4_chr5_141350021_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 274 | 0.0037 | 236 | c.251 others(257): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA5_chr5_141359162_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 292 | 0.0034 | 236 | c.242 others(257): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA6_chr5_141368891_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0279 | 1 | 292 | 0.0034 | 236 | c.242 others(257): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA7_chr5_141377742_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0266 | 1 | 292 | 0.0034 | 236 | c.242 others(257): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA8_chr5_141387633_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 302 | 0.0033 | 236 | c.242 others(257): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGA9_chr5_141397778_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0294 | 1 | 302 | 0.0033 | 236 | c.242 others(255): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB1_chr5_141345099_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0018 | 1 | 278 | 0.0036 | 236 | c.240 others(257): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB2_chr5_141354994_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0263 | 1 | 288 | 0.0035 | 236 | c.242 others(257): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB3_chr5_141365242_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0285 | 1 | 296 | 0.0034 | 236 | c.241 others(257): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB4_chr5_141382698_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 294 | 0.0034 | 236 | c.239 others(257): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB5_chr5_141392947_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0029 | 1 | 300 | 0.0033 | 236 | c.239 others(255): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHGB6_chr5_141403021_141517975 | 141407491 | A | ATTTCTGT others(229): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0163 | 1 | 302 | 0.0033 | 236 | c.-71 others(245): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(229): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 436 | 0.0023 | 236 | c.-26 others(247): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842844 | C | CGATAGAT others(229): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 NA19089.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0041 | 2 | 436 | 0.0046 | 236 | c.-26 others(247): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2190 | chr20 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999704 | A | AATATAAA others(229): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109a0001c0001t0005g0125 | 2 | 188 | 0.0106 | 236 | c.330 others(257): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46403501 | G | GTGTGTGT others(229): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0151 | 1 | 332 | 0.0030 | 236 | c.511 others(255): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46403501 | G | GTGTGTGT others(229): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0220 | 1 | 332 | 0.0030 | 236 | c.511 others(255): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(229): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0269a0001c0001t0002g0270a0001c0001t0005g0268others(6): Show | 9 | 336 | 0.0268 | 236 | c.-37 others(247): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(229): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 336 | 0.0030 | 236 | c.-37 others(247): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101493369 | T | TTCCCTCC others(229): Show |
upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0129 | 1 | 336 | 0.0030 | 236 | c.-37 others(247): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 3663 | chr15 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123151883 | G | GCCTGCCT others(229): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0118 | 1 | 332 | 0.0030 | 236 | c.127 others(255): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA6_chr2_10778391_10817785 | 10806628 | C | CAAAGAAA others(229): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 342 | 0.0029 | 236 | c.20- others(251): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741338 | G | GGGGGGCT others(229): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0314 | 1 | 358 | 0.0028 | 236 | c.143 others(251): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741395 | G | GGGGGGCT others(229): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0258a0001c0001t0012g0259 | 2 | 358 | 0.0056 | 236 | c.143 others(251): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PDXK_chr21_43714129_43767299 | 43741418 | C | CGGGGGGC others(229): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 358 | 0.0028 | 236 | c.143 others(251): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PEX26_chr22_18072990_18110396 | 18106957 | A | AGTCTGAA others(229): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0099a0001c0001t0195 | a0001c0001t0099g0161a0001c0001t0195g0162 | 2 | 398 | 0.0050 | 236 | c.*18 others(249): Show |
PEX26 | ENSG00000215193.14 | transcript | ENST00000399744.8 | protein_coding | 1562 | chr22 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011658 | T | TGGTGTGG others(229): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0247 | 1 | 334 | 0.0030 | 236 | c.28- others(251): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIK3R1_chr5_68210756_68306821 | 68262796 | C | CATATATA others(229): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0105 | 1 | 308 | 0.0033 | 236 | c.335 others(255): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(229): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 | 1 | 250 | 0.0040 | 236 | c.309 others(255): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063252 | C | CCCTCCCT others(229): Show |
intron_variant | MODIFIER | HG04115.hp1 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0045a0001c0002t0001g0060 | 2 | 250 | 0.0080 | 236 | c.309 others(255): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PNPLA7_chr9_137454952_137555402 | 137517943 | T | TCCCCCGT others(229): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0012 | a0012c0015 | a0012c0015t0001 | a0012c0015t0001g0158 | 1 | 188 | 0.0053 | 236 | c.108 others(255): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | ||||||
PODNL1_chr19_13926187_13943417 | 13936868 | A | AATCCCCC others(229): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 432 | 0.0023 | 236 | c.226 others(251): Show |
PODNL1 | ENSG00000132000.14 | transcript | ENST00000588872.3 | protein_coding | 2/9 | chr19 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325259 | T | TGAGTGAG others(229): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 398 | 0.0025 | 236 | c.194 others(253): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3167803 | C | CCCTGCTC others(229): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0195 | 1 | 210 | 0.0048 | 236 | c.38- others(253): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRDM16_chr1_3064203_3443621 | 3287650 | C | CCCCGCCA others(229): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0033 | 1 | 210 | 0.0048 | 236 | c.438 others(255): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PRKN_chr6_161342417_162732766 | 162011146 | A | ATTTATAA others(229): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 1 | 32 | 0.0313 | 236 | c.619 others(255): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRKN_chr6_161342417_162732766 | 162011146 | A | ATTTATAA others(229): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03041.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0002a0003c0006t0003 | a0001c0001t0002g0007a0003c0006t0003g0004 | 2 | 32 | 0.0625 | 236 | c.619 others(255): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64011805 | T | TGGCTTCT others(229): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG04115.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0119a0001c0001t0001g0138others(3): Show | 6 | 294 | 0.0204 | 236 | c.152 others(254): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PRPF6_chr20_63976132_64038100 | 64012805 | C | CGGCTTCT others(229): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 294 | 0.0034 | 236 | c.152 others(255): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PSD3_chr8_18522303_19018703 | 18594213 | T | TTATTATA others(229): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0047 | 1 | 228 | 0.0044 | 236 | c.248 others(255): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720015 | G | GAGAGAGA others(229): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(48): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0173a0001c0001t0001g0176a0001c0001t0001g0182others(48): Show | 51 | 322 | 0.1584 | 236 | c.200 others(255): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PYCR1_chr17_81927391_81942300 | 81929905 | C | CCCTCCCG others(229): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 376 | 0.0027 | 236 | c.*33 others(247): Show |
PYCR1 | ENSG00000183010.17 | transcript | ENST00000329875.13 | protein_coding | 2485 | chr17 | TogoVar | ||||||
RAI14_chr5_34651328_34837612 | 34665007 | A | ATATATAT others(229): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0113a0001c0001t0003g0243 | 2 | 254 | 0.0079 | 236 | c.-49 others(253): Show |
RAI14 | ENSG00000039560.14 | transcript | ENST00000265109.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |