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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTK2B_chr8_27320552_27464386 | 27350975 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02004.hp1 HG02602.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0006 | a0001c0001t0003g0021 a0001c0001t0003g0034 a0001c0001t0003g0041 others(2): Show |
5 | 269 | 0.0186 | 21 | c.-38 others(40): Show |
PTK2B | ENSG00000120899.18 | transcript | ENST00000346049.10 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PTK2_chr8_140652900_141006282 | 140820076 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0225 | 1 | 192 | 0.0052 | 21 | c.649 others(38): Show |
PTK2 | ENSG00000169398.20 | transcript | ENST00000696786.1 | protein_coding | 8/35 | chr8 | TogoVar | |||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 36 | 0.0278 | 21 | c.272 others(40): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18975.hp1 NA19070.hp1 |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0001a0007c0013t0001 | a0001c0001t0001g0095 a0001c0001t0001g0100 a0007c0013t0001g0063 |
3 | 38 | 0.0789 | 21 | c.272 others(40): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43157364 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 36 | 0.0278 | 21 | c.272 others(40): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PTK7_chr6_43071314_43166715 | 43166215 | T | TTTATTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0002 | a0002c0018 | a0002c0018t0001 | a0002c0018t0001g0248 | 1 | 152 | 0.0066 | 21 | c.*53 others(32): Show |
PTK7 | ENSG00000112655.16 | transcript | ENST00000230419.9 | protein_coding | 4501 | chr6 | TogoVar | |||||||
PTMA_chr2_231703525_231718551 | 231705109 | C | CAAAAAAA others(14): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02970.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0021 |
3 | 14 | 0.2143 | 21 | c.-35 others(32): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 3415 | chr2 | TogoVar | |||||||
PTMA_chr2_231703525_231718551 | 231717489 | A | AATTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 170 | 0.0059 | 21 | c.*46 others(32): Show |
PTMA | ENSG00000187514.17 | transcript | ENST00000409115.8 | protein_coding | 3939 | chr2 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137269624 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 172 | 0.0058 | 21 | c.-1- others(38): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137280699 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02886.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0028 a0001c0001t0001g0120 a0001c0001t0001g0186 others(2): Show |
5 | 16 | 0.3125 | 21 | c.-1- others(38): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 62 | 0.0161 | 21 | c.-2+ others(38): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTN_chr7_137222341_137348733 | 137324433 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 62 | 0.0161 | 21 | c.-2+ others(38): Show |
PTN | ENSG00000105894.13 | transcript | ENST00000348225.7 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77537203 | A | AGGCGGCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00738.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0001a0005c0005t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0165 others(23): Show |
26 | 30 | 0.8667 | 21 | c.-34 others(30): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 91 | chr7 | TogoVar | |||||||
PTPN12_chr7_77532295_77645069 | 77564746 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02293.hp1 HG03139.hp1 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 a0002c0002t0001g0097 a0002c0002t0001g0108 |
3 | 69 | 0.0435 | 21 | c.100 others(38): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN12_chr7_77532295_77645069 | 77573082 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 296 | 0.0034 | 21 | c.208 others(38): Show |
PTPN12 | ENSG00000127947.16 | transcript | ENST00000248594.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86718455 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01192.hp1 HG01346.hp1 others(1): Show |
a0004a0021 | a0004c0005a0021c0016 | a0004c0005t0004a0021c0016t0006 | a0004c0005t0004g0001 a0004c0005t0004g0002 a0004c0005t0004g0003 others(1): Show |
4 | 189 | 0.0212 | 21 | c.138 others(40): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 9/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN13_chr4_86589315_86820161 | 86757762 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 |
a0003a0010 | a0003c0002a0010c0013 | a0003c0002t0002a0010c0013t0003 | a0003c0002t0002g0015 a0010c0013t0003g0011 |
2 | 166 | 0.0120 | 21 | c.322 others(38): Show |
PTPN13 | ENSG00000163629.13 | transcript | ENST00000411767.7 | protein_coding | 20/47 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PTPN14_chr1_214343700_214556602 | 214344741 | T | TTTGCTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00639.hp1 others(20): Show |
a0001a0009 | a0001c0001a0001c0017a0009c0013 | a0001c0001t0004a0001c0001t0023a0001c0001t0037others(11): Show | a0001c0001t0004g0004 a0001c0001t0004g0039 a0001c0001t0004g0041 others(20): Show |
23 | 270 | 0.0852 | 21 | c.*13 others(34): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 3958 | chr1 | TogoVar | |||||||
PTPN14_chr1_214343700_214556602 | 214402437 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0131 | a0001c0001t0131g0235 | 1 | 122 | 0.0082 | 21 | c.581 others(36): Show |
PTPN14 | ENSG00000152104.12 | transcript | ENST00000366956.10 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
PTPN18_chr2_130351056_130380405 | 130361557 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0003 | 1 | 338 | 0.0030 | 21 | c.414 others(38): Show |
PTPN18 | ENSG00000072135.13 | transcript | ENST00000175756.10 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTPN1_chr20_50505383_50590241 | 50524569 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 108 | 0.0093 | 21 | c.63+ others(38): 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(14): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp1 HG01192.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0039 others(24): Show |
30 | 153 | 0.1961 | 21 | c.64- others(36): Show |
PTPN1 | ENSG00000196396.10 | transcript | ENST00000371621.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PTPN20_chr10_46906428_47007322 | 46998933 | A | AACATAGG others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00621.hp2 others(40): Show |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0003a0008c0011t0002 | a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0006 others(36): Show |
43 | 310 | 0.1387 | 21 | c.113 others(38): Show |
PTPN20 | ENSG00000204179.11 | transcript | ENST00000374339.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PTPN21_chr14_88460778_88560007 | 88518414 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG06807.hp2 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0198 a0001c0001t0037g0188 |
2 | 205 | 0.0098 | 21 | c.181 others(38): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN21_chr14_88460778_88560007 | 88518414 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 204 | 0.0049 | 21 | c.181 others(38): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN21_chr14_88460778_88560007 | 88518415 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0118 | 1 | 270 | 0.0037 | 21 | c.181 others(38): Show |
PTPN21 | ENSG00000070778.13 | transcript | ENST00000556564.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
PTPN23_chr3_47376021_47418435 | 47417894 | G | GGTGAGAG others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(173): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0006others(26): Show | a0001c0001t0004a0001c0005t0001a0001c0005t0002others(28): Show | a0001c0001t0004g0068 a0001c0005t0001g0004 a0001c0005t0001g0006 others(147): Show |
176 | 196 | 0.8980 | 21 | c.*47 others(32): Show |
PTPN23 | ENSG00000076201.16 | transcript | ENST00000265562.5 | protein_coding | 4460 | chr3 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12876296 | A | AAAGAAGA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(83): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0156 others(83): Show |
86 | 155 | 0.5548 | 21 | c.69+ others(36): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
PTPN3_chr9_109370700_109503307 | 109408796 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0249 | 1 | 115 | 0.0087 | 21 | c.157 others(38): Show |
PTPN3 | ENSG00000070159.14 | transcript | ENST00000374541.4 | protein_coding | 16/25 | chr9 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75537753 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01167.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0078 others(23): Show |
26 | 114 | 0.2281 | 21 | c.64- others(38): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70512210 | T | TTTATTAT others(14): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0004 | a0004c0031 | a0004c0031t0028 | a0004c0031t0028g0217 | 1 | 53 | 0.0189 | 21 | c.*92 others(32): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 3659 | chr12 | TogoVar | |||||||
PTPRB_chr12_70510870_70642429 | 70609978 | G | GTTGCTGC others(14): Show |
intron_variant | MODIFIER | NA18943.hp2 NA18946.hp1 NA19002.hp2 others(3): Show |
a0005 | a0005c0004a0005c0006a0005c0036others(1): Show | a0005c0004t0003a0005c0004t0004a0005c0006t0001others(2): Show | a0005c0004t0003g0202 a0005c0004t0004g0191 a0005c0006t0001g0201 others(3): Show |
6 | 298 | 0.0201 | 21 | c.709 others(36): Show |
PTPRB | ENSG00000127329.16 | transcript | ENST00000334414.11 | protein_coding | 3/33 | chr12 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8331574 | A | AAACTTAC others(14): Show |
splice_region_variant others(1): Show |
LOW | HG00642.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0022a0001c0013t0012 | a0001c0001t0022g0012 a0001c0013t0012g0014 |
2 | 10 | 0.2000 | 21 | c.553 others(34): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 44/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 8331574 | A | AAACTTAC others(14): Show |
splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG01109.hp2 HG01243.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0002g0018 others(18): Show |
21 | 29 | 0.7241 | 21 | c.553 others(34): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 44/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9208020 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0024 | 1 | 7 | 0.1429 | 21 | c.-20 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 9/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9403290 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0019 | 1 | 2 | 0.5000 | 21 | c.-23 others(40): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 8/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9584359 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0018a0001c0005t0001 | a0001c0004t0018g0015 a0001c0005t0001g0019 |
2 | 26 | 0.0769 | 21 | c.-28 others(40): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 7/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9976689 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0009 | a0004c0009t0006 | a0004c0009t0006g0007 | 1 | 3 | 0.3333 | 21 | c.-47 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9998127 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 20 | 0.0500 | 21 | c.-47 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 9998129 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0003 | a0003c0008 | a0003c0008t0008 | a0003c0008t0008g0003 | 1 | 19 | 0.0526 | 21 | c.-47 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 4/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10065187 | G | GAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 34 | 0.0294 | 21 | c.-54 others(42): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 3/45 | chr9 | TogoVar | |||||||
PTPRD_chr9_8309246_10618002 | 10182259 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0022a0001c0005t0001 | a0001c0001t0002g0018 a0001c0001t0022g0012 a0001c0005t0001g0019 |
3 | 18 | 0.1667 | 21 | 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(14): Show |
intron_variant | MODIFIER | HG03834.hp2 NA21309.hp2 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0004c0009t0006 | a0001c0001t0001g0004 a0004c0009t0006g0007 |
2 | 4 | 0.5000 | 21 | c.-60 others(44): Show |
PTPRD | ENSG00000153707.19 | transcript | ENST00000381196.9 | protein_coding | 2/45 | chr9 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61676456 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 30 | 0.0333 | 21 | c.86- others(38): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62026879 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02683.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0024 a0002c0002t0002g0092 |
2 | 38 | 0.0526 | 21 | c.519 others(40): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 62281538 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 8 | 0.1250 | 21 | c.376 others(36): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 26/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRJ_chr11_47975559_48175839 | 47980920 | C | CGGCGGCG others(14): Show |
conservative_inframe_insertion | MODERATE | HG01106.hp2 | a0012 | a0012c0029 | a0012c0029t0007 | a0012c0029t0007g0182 | 1 | 214 | 0.0047 | 21 | c.10_ others(26): Show |
p.Ala others(10): Show |
PTPRJ | ENSG00000149177.15 | transcript | ENST00000418331.7 | protein_coding | 1/25 | 385/7845 | 31/4014 | 11/1337 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
PTPRK_chr6_127963785_128525599 | 128214544 | C | CATTATTA others(14): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0002a0001c0003t0004 | a0001c0002t0001g0048 a0001c0003t0002g0032 a0001c0003t0004g0052 others(1): Show |
4 | 37 | 0.1081 | 21 | c.868 others(38): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 6/29 | chr6 | TogoVar | |||||||
PTPRN_chr2_219284623_219314401 | 219294490 | A | AAAAGACG others(14): Show |
intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 NA18906.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0017 a0002c0004t0002g0053 |
3 | 412 | 0.0073 | 21 | c.267 others(38): Show |
PTPRN | ENSG00000054356.14 | transcript | ENST00000295718.7 | protein_coding | 19/22 | chr2 | TogoVar | |||||||
PTPRN_chr2_219284623_219314401 | 219294493 | A | AGACGGAG others(14): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(137): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(51): Show |
140 | 370 | 0.3784 | 21 | c.267 others(38): Show |
PTPRN | ENSG00000054356.14 | transcript | ENST00000295718.7 | protein_coding | 19/22 | chr2 | TogoVar |