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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTK2B_chr8_27320552_27464386 | 27350990 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0038 | 1 | 328 | 0.0031 | 40 | c.-38 others(59): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTK7_chr6_43071314_43166715 | 43150787 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 272 | 0.0037 | 40 | c.272 others(59): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PTMA_chr2_231703525_231718551 | 231715726 | T | TGGACTCC others(33): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 392 | 0.0026 | 40 | c.*28 others(51): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2176 | chr2 | TogoVar | ||||||
PTMA_chr2_231703525_231718551 | 231716034 | T | TCCCTCAC others(33): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02723.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0031 | 4 | 392 | 0.0102 | 40 | c.*31 others(51): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 2484 | chr2 | TogoVar | ||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 296 | 0.0034 | 40 | c.-2+ others(57): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908140 | T | TATATATA others(33): Show |
3_prime_UTR_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0122 | a0001c0001t0122g0191 | 1 | 354 | 0.0028 | 40 | c.*71 others(49): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 711 | chr1 | TogoVar | |||||
PTP4A3_chr8_141387021_141437454 | 141406476 | C | CCTGGGAA others(33): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0045 | 1 | 323 | 0.0031 | 40 | c.-85 others(61): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PTPN12_chr7_77532295_77645069 | 77622849 | T | TTTCCAAT others(33): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01256.hp1 HG03239.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0020a0003c0003t0001g0169a0003c0003t0001g0170others(1): Show | 4 | 310 | 0.0129 | 40 | c.102 others(59): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(33): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0162 | 1 | 272 | 0.0037 | 40 | c.581 others(55): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0019a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0025others(15): Show | a0001c0001t0002g0043a0001c0001t0002g0101a0001c0001t0002g0104others(20): Show | 23 | 272 | 0.0846 | 40 | c.581 others(55): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGAAGG others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18522.hp2 NA18747.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0071a0001c0001t0111a0002c0003t0171 | a0001c0001t0071g0121a0001c0001t0111g0037a0002c0003t0171g0252 | 3 | 272 | 0.0110 | 40 | c.581 others(55): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402667 | A | AAGGGAGG others(33): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0064 | a0003c0005t0064g0187 | 1 | 272 | 0.0037 | 40 | c.581 others(55): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214402671 | A | AAGGGAGG others(33): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0022 | a0001c0022t0167 | a0001c0022t0167g0248 | 1 | 272 | 0.0037 | 40 | c.581 others(55): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214490852 | A | AGAGAAGG others(33): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0024 | a0001c0024t0102 | a0001c0024t0102g0078 | 1 | 272 | 0.0037 | 40 | c.-15 others(61): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214490852 | A | AGGGAGGG others(33): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0134 | 1 | 272 | 0.0037 | 40 | c.-15 others(61): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | ||||||
PTPN18_chr2_130351056_130380405 | 130361504 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03704.hp2 NA19010.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0091a0002c0003t0003g0092 | 2 | 380 | 0.0053 | 40 | c.414 others(57): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTPN18_chr2_130351056_130380405 | 130361516 | T | TTCTCTTT others(33): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02071.hp1 NA18969.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0094a0002c0003t0003g0095a0002c0003t0003g0096 | 3 | 380 | 0.0079 | 40 | c.414 others(57): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PTPN2_chr18_12787152_12889237 | 12807584 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0087 | 1 | 370 | 0.0027 | 40 | c.859 others(57): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 370 | 0.0027 | 40 | c.859 others(57): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 370 | 0.0027 | 40 | c.859 others(57): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 370 | 0.0027 | 40 | c.859 others(57): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75530712 | T | TATATAAT others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0197 | 1 | 326 | 0.0031 | 40 | c.64- others(55): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75537753 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 | 1 | 326 | 0.0031 | 40 | c.64- others(57): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | ||||||
PTPRB_chr12_70510870_70642429 | 70511011 | G | GATTTTCC others(33): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0293 | 1 | 300 | 0.0033 | 40 | c.*10 others(53): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 4858 | chr12 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8557455 | T | TATATATA others(33): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0015 | 1 | 34 | 0.0294 | 40 | c.353 others(59): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 14/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8929757 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0017 | 1 | 34 | 0.0294 | 40 | c.-10 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8948441 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0012 | 1 | 34 | 0.0294 | 40 | c.-10 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 11/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 9998129 | A | AAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0011 | a0001c0011t0005 | a0001c0011t0005g0021 | 1 | 34 | 0.0294 | 40 | c.-47 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 10065141 | T | TAGAAAGA others(33): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 | 1 | 34 | 0.0294 | 40 | c.-54 others(61): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61621051 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 94 | 0.0106 | 40 | c.85+ others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61621051 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0087 | 1 | 94 | 0.0106 | 40 | c.85+ others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61621051 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 94 | 0.0106 | 40 | c.85+ others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61672000 | A | AGACGGGG others(33): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(71): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0014others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(71): Show | 74 | 94 | 0.7872 | 40 | c.86- others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61672000 | A | AGACGGGG others(33): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0071 | 1 | 94 | 0.0106 | 40 | c.86- others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61672003 | C | CGGGGCGG others(33): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02723.hp2 HG02809.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0008a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0066a0001c0001t0001g0090others(7): Show | 10 | 94 | 0.1064 | 40 | c.86- others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61738282 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 94 | 0.0106 | 40 | c.86- others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61738282 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0023a0001c0001t0007g0083 | 2 | 94 | 0.0213 | 40 | c.86- others(57): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 61926609 | C | CTCCCTCC others(33): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0045a0001c0015t0001g0011 | 2 | 94 | 0.0213 | 40 | c.191 others(59): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRG_chr3_61556571_62302609 | 62281538 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 94 | 0.0106 | 40 | c.376 others(55): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PTPRM_chr18_7562316_8411856 | 8054298 | A | AATATATA others(33): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0070 | 1 | 80 | 0.0125 | 40 | c.113 others(61): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 7/32 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PTPRQ_chr12_80439235_80685273 | 80558111 | T | TTTTCTTT others(33): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0037 | a0037c0066 | a0037c0066t0001 | a0037c0066t0001g0176 | 1 | 178 | 0.0056 | 40 | c.428 others(59): Show |
PTPRQ | ENSG00000139304.16 | transcript | ENST00000644991.3 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PTPRT_chr20_42067756_43194906 | 43083320 | G | GTGTATAT others(33): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0026 | a0001c0026t0007 | a0001c0026t0007g0059 | 1 | 62 | 0.0161 | 40 | c.88+ others(59): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972284 | A | AAGGGAAG others(33): Show |
intron_variant | MODIFIER | HG02074.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222a0001c0001t0003g0224 | 2 | 334 | 0.0060 | 40 | c.150 others(59): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 30972284 | A | AAGGGGAG others(33): Show |
intron_variant | MODIFIER | HG02615.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0220 | 2 | 334 | 0.0060 | 40 | c.150 others(59): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0266 | 1 | 334 | 0.0030 | 40 | c.364 others(59): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(33): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 334 | 0.0030 | 40 | c.364 others(59): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 358 | 0.0028 | 40 | c.195 others(59): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | ||||||
PUS1_chr12_131924276_131950896 | 131926409 | C | CGCTCCTC others(33): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(94): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0013others(42): Show | 97 | 382 | 0.2539 | 40 | c.-33 others(51): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 2866 | chr12 | TogoVar | ||||||
PUS1_chr12_131924276_131950896 | 131926410 | G | GCTCCTCA others(33): Show |
upstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 382 | 0.0026 | 40 | c.-33 others(51): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 2865 | chr12 | TogoVar | ||||||
PUS1_chr12_131924276_131950896 | 131926422 | C | CCAGACGG others(33): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02647.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0037 | a0001c0001t0003g0046a0001c0001t0006g0047a0001c0001t0037g0053 | 3 | 382 | 0.0079 | 40 | c.-33 others(51): Show |
PUS1 | ENSG00000177192.14 | transcript | ENST00000376649.8 | protein_coding | 2853 | chr12 | TogoVar |