view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTP4A2_chr1_31901421_31943368 | 31925298 | T | TTCTATAA others(16): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 352 | 0.0028 | 23 | c.-59 others(42): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
PTP4A3_chr8_141387021_141437454 | 141415719 | G | GGTGGGGT others(16): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0029 | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0017g0023 others(1): Show |
4 | 321 | 0.0125 | 23 | c.-85 others(42): Show |
PTP4A3 | ENSG00000184489.13 | transcript | ENST00000521578.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTPA_chr9_129106415_129153946 | 129139942 | C | CAGGCAGG others(16): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 332 | 0.0030 | 23 | c.786 others(40): Show |
PTPA | ENSG00000119383.21 | transcript | ENST00000393370.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86705333 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02735.hp2 |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0004 a0004c0005t0004g0005 |
2 | 93 | 0.0215 | 23 | c.119 others(42): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86757762 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02970.hp1 HG03098.hp2 |
a0003a0019 | a0003c0006a0019c0026 | a0003c0006t0003a0019c0026t0003 | a0003c0006t0003g0022 a0003c0006t0003g0024 a0019c0026t0003g0019 |
3 | 167 | 0.0180 | 23 | c.322 others(40): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214520065 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01346.hp1 HG01496.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0006 a0001c0001t0004g0004 a0001c0001t0005g0168 others(1): Show |
4 | 75 | 0.0533 | 23 | c.-15 others(44): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214520065 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0119 | a0001c0001t0119g0196 | 1 | 72 | 0.0139 | 23 | c.-15 others(44): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 1/18 | chr1 | TogoVar | |||||||
PTPN1_chr20_50505383_50590241 | 50524569 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 108 | 0.0093 | 23 | c.63+ others(40): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPN1_chr20_50505383_50590241 | 50554380 | A | ATTCTCTC others(16): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01243.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0001a0001c0009t0001 | a0001c0001t0001g0071 a0001c0001t0001g0089 a0001c0001t0001g0090 others(16): Show |
19 | 142 | 0.1338 | 23 | c.64- others(38): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPN21_chr14_88460778_88560007 | 88518414 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 204 | 0.0049 | 23 | c.181 others(40): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN21_chr14_88460778_88560007 | 88518415 | T | TATATATA others(16): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0139 | 1 | 270 | 0.0037 | 23 | c.181 others(40): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN23_chr3_47376021_47418435 | 47417859 | A | ACGGGGGA others(16): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0004 | 1 | 330 | 0.0030 | 23 | c.*46 others(34): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 4425 | chr3 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 58 | 0.0172 | 23 | c.859 others(40): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12807586 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0057 | 1 | 58 | 0.0172 | 23 | c.859 others(40): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 7/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12835382 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0004 | 1 | 25 | 0.0400 | 23 | c.261 others(40): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75537753 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00735.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0154 others(11): Show |
14 | 102 | 0.1373 | 23 | c.64- others(40): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
PTPRA_chr20_2868481_3043669 | 3029540 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 3 | 0.3333 | 23 | c.192 others(42): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPRD_chr9_8309246_10618002 | 8556553 | A | ATTTTATA others(16): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 31 | 0.0323 | 23 | c.353 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 14/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9208020 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0031 | 1 | 7 | 0.1429 | 23 | c.-20 others(44): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 9/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10065141 | T | TGAAAGAA others(16): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0029 | 1 | 4 | 0.2500 | 23 | c.-54 others(44): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10169473 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0019 | 1 | 17 | 0.0588 | 23 | c.-54 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10278155 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0025 | 1 | 34 | 0.0294 | 23 | c.-54 others(44): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10504115 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0006 | a0001c0006t0026 | a0001c0006t0026g0034 | 1 | 3 | 0.3333 | 23 | c.-60 others(46): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61676456 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01071.hp1 HG02040.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0079 others(1): Show |
4 | 33 | 0.1212 | 23 | c.86- others(40): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61894301 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 5 | 0.2000 | 23 | c.191 others(42): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61986115 | C | CAATCATC others(16): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03225.hp2 others(1): Show |
a0003a0008 | a0003c0004a0003c0013a0008c0009 | a0003c0004t0002a0003c0004t0007a0003c0013t0001others(1): Show | a0003c0004t0002g0071 a0003c0004t0007g0076 a0003c0013t0001g0004 others(1): Show |
4 | 93 | 0.0430 | 23 | c.191 others(40): 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(16): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01255.hp2 HG02809.hp1 others(1): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0004 | a0001c0001t0003a0001c0008t0005a0003c0004t0013 | a0001c0001t0003g0023 a0001c0008t0005g0032 a0001c0008t0005g0068 others(1): Show |
4 | 11 | 0.3636 | 23 | c.376 others(38): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRH_chr19_55176247_55214501 | 55199307 | A | AAGAAAGA others(16): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0204 | 1 | 376 | 0.0027 | 23 | c.142 others(40): Show |
PTPRH | ENSG00000080031.10 | transcript | ENST00000376350.8 | protein_coding | 7/19 | chr19 | TogoVar | |||||||
PTPRJ_chr11_47975559_48175839 | 47988879 | G | GTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0007 | a0007c0010 | a0007c0010t0002 | a0007c0010t0002g0009 | 1 | 145 | 0.0069 | 23 | c.96+ others(38): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 48053197 | A | ATAAATAT others(16): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0194 | 1 | 214 | 0.0047 | 23 | c.97- others(40): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRR_chr12_70633079_70925738 | 70821213 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01978.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0129 a0001c0001t0001g0142 others(3): Show |
6 | 11 | 0.5455 | 23 | c.358 others(42): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42086753 | A | AAAAATAT others(16): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0011 | a0002c0011t0006 | a0002c0011t0006g0003 | 1 | 50 | 0.0200 | 23 | c.384 others(40): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42569079 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 43 | 0.0233 | 23 | c.115 others(44): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42624005 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 |
a0001a0003 | a0001c0008a0003c0020 | a0001c0008t0001a0003c0020t0016 | a0001c0008t0001g0060 a0003c0020t0016g0029 |
2 | 43 | 0.0465 | 23 | c.115 others(44): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 7/30 | chr20 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972447 | G | GGGAGGGG others(16): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18954.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0287 a0001c0002t0003g0314 |
2 | 161 | 0.0124 | 23 | c.150 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972447 | G | GGGAGGGG others(16): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0229 | 1 | 160 | 0.0063 | 23 | c.150 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0249 | 1 | 94 | 0.0106 | 23 | c.364 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 94 | 0.0106 | 23 | c.364 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0133 |
2 | 95 | 0.0211 | 23 | c.364 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0065 a0001c0001t0004g0120 |
2 | 95 | 0.0211 | 23 | c.364 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(16): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0002g0129 |
2 | 95 | 0.0211 | 23 | c.364 others(42): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20264367 | A | AAAAAAAT others(16): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0337 | 1 | 143 | 0.0070 | 23 | c.195 others(40): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20264367 | A | AAATATAT others(16): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0348 | 1 | 143 | 0.0070 | 23 | c.195 others(40): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0021 a0001c0001t0001g0093 a0001c0001t0001g0102 others(19): Show |
22 | 27 | 0.8148 | 23 | c.195 others(42): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | |||||||
PUM3_chr9_2799152_2849095 | 2821443 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA18945.hp2 NA19081.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0033 | 2 | 178 | 0.0112 | 23 | c.118 others(42): Show |
PUM3 | ENSG00000080608.10 | transcript | ENST00000397885.3 | protein_coding | 12/17 | chr9 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718807 | A | AAAAAAAT others(16): Show |
downstream_gene_variant | MODIFIER | NA19082.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0011 | 1 | 193 | 0.0052 | 23 | c.*11 others(36): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 184 | chr12 | TogoVar | |||||||
PUS7L_chr12_43713992_43763790 | 43718807 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | NA18946.hp1 NA19078.hp2 |
a0002 | a0002c0002a0002c0016 | a0002c0002t0003a0002c0016t0003 | a0002c0002t0003g0011 a0002c0016t0003g0139 |
2 | 194 | 0.0103 | 23 | c.*11 others(36): Show |
PUS7L | ENSG00000129317.15 | transcript | ENST00000344862.10 | protein_coding | 184 | chr12 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105456074 | A | ATATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0330 | 1 | 193 | 0.0052 | 23 | c.*17 others(34): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 428 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105508871 | T | TAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0311 | 1 | 69 | 0.0145 | 23 | c.-32 others(38): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105509184 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02055.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0049 a0001c0001t0019g0332 |
2 | 9 | 0.2222 | 23 | c.-32 others(38): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar |