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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB1_chr5_141345099_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00621.hp1 others(25): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0217 a0001c0001t0001g0225 a0001c0001t0001g0230 others(25): Show |
28 | 139 | 0.2014 | 7 | c.240 others(28): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0155 others(14): Show |
17 | 106 | 0.1604 | 7 | c.246 others(26): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141379889 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp2 HG01517.hp1 HG01884.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 others(3): Show |
6 | 30 | 0.2000 | 7 | c.242 others(28): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(25): Show |
a0002a0005a0008others(2): Show | a0002c0002a0005c0004a0008c0012others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0004 a0002c0002t0001g0180 a0002c0002t0001g0185 others(25): Show |
28 | 146 | 0.1918 | 7 | c.242 others(28): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0146 others(14): Show |
17 | 110 | 0.1545 | 7 | c.248 others(26): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141379889 | C | CTTTTTTT | intron_variant | MODIFIER | HG01175.hp2 HG01517.hp1 HG01884.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0001 | a0001c0001t0001g0224 a0001c0001t0001g0229 a0001c0001t0001g0230 others(3): Show |
6 | 30 | 0.2000 | 7 | c.241 others(26): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00621.hp1 others(25): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0166 a0001c0001t0001g0175 a0001c0001t0001g0181 others(25): Show |
28 | 152 | 0.1842 | 7 | c.241 others(28): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0069 a0001c0001t0001g0093 a0001c0001t0001g0261 others(14): Show |
17 | 113 | 0.1504 | 7 | c.247 others(26): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00621.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0134 a0001c0001t0002g0098 others(25): Show |
28 | 150 | 0.1867 | 7 | c.239 others(28): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0010 a0001c0001t0001g0012 others(14): Show |
17 | 111 | 0.1532 | 7 | c.245 others(26): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0004others(3): Show | a0001c0001t0002g0298 a0002c0002t0002g0038 a0002c0002t0002g0075 others(25): Show |
28 | 155 | 0.1806 | 7 | c.239 others(28): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0286 others(14): Show |
17 | 113 | 0.1504 | 7 | c.245 others(26): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141410849 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(25): Show |
a0002a0008 | a0002c0002a0002c0005a0008c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0002c0002t0001g0251 a0002c0002t0001g0257 a0002c0002t0002g0240 others(25): Show |
28 | 156 | 0.1795 | 7 | c.241 others(24): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0293 others(14): Show |
17 | 115 | 0.1478 | 7 | c.247 others(26): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB7_chr5_141412677_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02258.hp1 others(14): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0144 a0001c0001t0001g0196 a0001c0001t0002g0074 others(14): Show |
17 | 115 | 0.1478 | 7 | c.247 others(26): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGC3_chr5_141470966_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0107 a0001c0001t0001g0108 others(14): Show |
17 | 143 | 0.1189 | 7 | c.249 others(26): Show |
PCDHGC3 | ENSG00000240184.7 | transcript | ENST00000308177.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGC4_chr5_141480030_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(3): Show | a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064 others(14): Show |
17 | 144 | 0.1181 | 7 | c.250 others(26): Show |
PCDHGC4 | ENSG00000242419.6 | transcript | ENST00000306593.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGC5_chr5_141484081_141517975 | 141502866 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004a0001c0015 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0054 a0001c0001t0001g0055 others(14): Show |
17 | 151 | 0.1126 | 7 | c.252 others(26): Show |
PCDHGC5 | ENSG00000240764.4 | transcript | ENST00000252087.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47089457 | A | AAATACAT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0108 a0001c0001t0001g0276 a0001c0001t0001g0277 others(10): Show |
13 | 259 | 0.0502 | 7 | c.-60 others(26): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47217529 | G | GAAAGAGA | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00558.hp2 others(99): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(99): Show |
102 | 320 | 0.3188 | 7 | c.-58 others(22): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 749476 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG02135.hp1 NA18950.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(1): Show | a0001c0003t0005g0123 a0001c0003t0005g0133 a0001c0003t0005g0140 others(7): Show |
10 | 87 | 0.1149 | 7 | c.462 others(24): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCID2_chr13_113172536_113213669 | 113198012 | T | TTTTTTTA | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp2 HG03195.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025 a0001c0002t0004g0054 a0001c0002t0004g0175 others(2): Show |
7 | 412 | 0.0170 | 7 | c.200 others(22): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 3/13 | chr13 | TogoVar | |||||||
PCLAF_chr15_64359304_64386441 | 64377470 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0050 a0001c0001t0001g0143 others(3): Show |
7 | 168 | 0.0417 | 7 | c.128 others(22): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83038030 | T | TATATATA | intron_variant | MODIFIER | HG02486.hp2 HG04204.hp2 NA18954.hp2 |
a0004a0009 | a0004c0024a0004c0103a0009c0082 | a0004c0024t0003a0004c0103t0009a0009c0082t0022 | a0004c0024t0003g0052 a0004c0103t0009g0065 a0009c0082t0022g0002 |
3 | 186 | 0.0161 | 7 | c.330 others(28): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83096860 | A | AATATATT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(55): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0004a0001c0007others(35): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0018others(39): Show | a0001c0001t0002g0107 a0001c0001t0006g0179 a0001c0001t0006g0180 others(55): Show |
58 | 183 | 0.3169 | 7 | c.330 others(28): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83097168 | A | ATATATAT | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp1 HG01257.hp1 others(8): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0092a0004c0025others(6): Show | a0001c0001t0001a0002c0092t0012a0004c0025t0009others(6): Show | a0001c0001t0001g0133 a0002c0092t0012g0161 a0004c0025t0009g0063 others(8): Show |
11 | 131 | 0.0840 | 7 | c.330 others(28): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 17979787 | T | TGAAAACA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(265): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0024a0002c0002others(39): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(99): Show | a0001c0001t0002g0072 a0001c0001t0004g0044 a0001c0001t0006g0079 others(265): Show |
268 | 366 | 0.7322 | 7 | c.394 others(24): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 23/38 | chr8 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 18033481 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(59): Show |
a0002a0003a0008others(6): Show | a0002c0002a0002c0007a0002c0009others(10): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0012others(23): Show | a0002c0002t0004g0180 a0002c0002t0004g0181 a0002c0002t0004g0187 others(59): Show |
62 | 213 | 0.2911 | 7 | c.*58 others(18): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 3534 | chr8 | TogoVar | |||||||
PCMTD1_chr8_51812583_51904036 | 51898165 | C | CTGATTTG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(96): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0010a0002c0002t0013others(4): Show | a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0002g0008 others(74): Show |
99 | 334 | 0.2964 | 7 | c.-96 others(22): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 1/5 | chr8 | TogoVar | |||||||
PCMTD2_chr20_64250748_64281226 | 64269852 | C | CGTGTGCG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0012 others(98): Show |
182 | 330 | 0.5515 | 7 | c.706 others(24): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101595787 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01106.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0155 others(7): Show |
19 | 59 | 0.3220 | 7 | c.*30 others(18): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1323 | chr3 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46407340 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00735.hp2 others(81): Show |
a0002a0005a0006others(18): Show | a0002c0002a0002c0018a0002c0022others(26): Show | a0002c0002t0001a0002c0018t0001a0002c0022t0001others(26): Show | a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0041 others(81): Show |
84 | 241 | 0.3485 | 7 | c.511 others(26): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46421450 | C | CTGTGCAT | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01109.hp1 others(45): Show |
a0004a0006a0013others(8): Show | a0004c0004a0004c0023a0004c0071others(13): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0006others(15): Show | a0004c0004t0001g0090 a0004c0004t0001g0091 a0004c0004t0001g0097 others(45): Show |
48 | 330 | 0.1455 | 7 | c.702 others(24): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 31/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70919709 | T | TCCCCCCC | intron_variant | MODIFIER | HG00558.hp1 HG01168.hp1 HG01169.hp2 others(13): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0037others(9): Show | a0001c0001t0002g0012 a0001c0001t0002g0019 a0001c0001t0002g0020 others(13): Show |
16 | 45 | 0.3556 | 7 | c.153 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70962682 | A | ATAAAAAT | intron_variant | MODIFIER | HG01496.hp1 HG02965.hp1 HG03486.hp1 |
a0001a0012 | a0001c0013a0012c0031 | a0001c0013t0031a0012c0031t0075 | a0001c0013t0031g0348 a0001c0013t0031g0349 a0012c0031t0075g0054 |
3 | 350 | 0.0086 | 7 | c.468 others(22): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT | intron_variant | MODIFIER | HG00733.hp1 HG02602.hp2 HG02735.hp2 others(4): Show |
a0001a0004a0012 | a0001c0001a0001c0002a0004c0011others(1): Show | a0001c0001t0028a0001c0002t0005a0001c0002t0007others(2): Show | a0001c0001t0028g0127 a0001c0001t0028g0128 a0001c0002t0005g0065 others(4): Show |
7 | 107 | 0.0654 | 7 | c.263 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71083381 | G | GCCGGTGT | intron_variant | MODIFIER | HG00733.hp1 HG03209.hp2 NA18522.hp1 |
a0004a0014 | a0004c0011a0014c0024 | a0004c0011t0032a0014c0024t0065 | a0004c0011t0032g0112 a0004c0011t0032g0113 a0014c0024t0065g0114 |
3 | 350 | 0.0086 | 7 | c.533 others(26): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 28/35 | chr14 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233067365 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01099.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0007t0003others(7): Show | a0001c0001t0001g0050 a0001c0001t0001g0075 a0001c0001t0001g0086 others(15): Show |
18 | 41 | 0.4390 | 7 | c.407 others(28): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233130947 | C | CCTCCTGG | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp2 HG01952.hp1 others(10): Show |
a0001a0020a0022others(1): Show | a0001c0001a0001c0007a0001c0009others(4): Show | a0001c0001t0006a0001c0007t0001a0001c0009t0001others(4): Show | a0001c0001t0006g0120 a0001c0007t0001g0002 a0001c0007t0001g0054 others(10): Show |
13 | 144 | 0.0903 | 7 | c.383 others(26): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 21/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233295998 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01261.hp2 others(3): Show |
a0001a0002a0003 | a0001c0007a0002c0002a0003c0003 | a0001c0007t0001a0002c0002t0001a0003c0003t0002others(1): Show | a0001c0007t0001g0117 a0002c0002t0001g0132 a0002c0002t0001g0133 others(3): Show |
6 | 128 | 0.0469 | 7 | c.-52 others(16): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 274 | chr1 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142815916 | G | GTGATATC | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02922.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0002g0013 a0001c0001t0002g0140 a0001c0001t0002g0144 others(7): Show |
11 | 340 | 0.0324 | 7 | c.*24 others(18): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 1957 | chr3 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142861480 | T | TATCTTCC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02486.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0117 a0001c0001t0001g0154 a0001c0001t0001g0175 others(14): Show |
17 | 340 | 0.0500 | 7 | c.193 others(26): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PCP2_chr19_7626615_7638719 | 7628642 | A | AGGCCTCT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0030 a0001c0001t0001g0031 others(7): Show |
38 | 410 | 0.0927 | 7 | c.*30 others(18): Show |
PCP2 | ENSG00000174788.10 | transcript | ENST00000311069.6 | protein_coding | 2972 | chr19 | TogoVar | |||||||
PCP4L1_chr1_161253745_161290450 | 161267713 | G | GTTTTTGT | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01074.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0083 a0001c0001t0001g0096 others(32): Show |
43 | 400 | 0.1075 | 7 | c.9+8 others(20): Show |
PCP4L1 | ENSG00000248485.2 | transcript | ENST00000504449.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39903867 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp2 HG02132.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0028 others(11): Show |
14 | 386 | 0.0363 | 7 | c.61+ others(22): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96425008 | A | AAAGAAAG | intron_variant | MODIFIER | HG01081.hp2 NA19055.hp1 NA19072.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0228 a0001c0001t0004g0336 a0001c0002t0001g0022 |
3 | 75 | 0.0400 | 7 | c.396 others(22): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17303542 | A | AATATAAT | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG01256.hp2 others(26): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0119 a0001c0001t0001g0127 a0001c0001t0001g0158 others(26): Show |
29 | 233 | 0.1245 | 7 | c.282 others(26): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17428997 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0002g0167 a0001c0001t0006g0001 a0001c0001t0009g0195 others(2): Show |
6 | 70 | 0.0857 | 7 | c.621 others(22): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75902214 | T | TAAAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG01884.hp2 HG01981.hp2 others(5): Show |
a0001a0003a0005others(4): Show | a0001c0004a0001c0013a0003c0051others(5): Show | a0001c0004t0002a0001c0013t0022a0003c0051t0013others(5): Show | a0001c0004t0002g0152 a0001c0013t0022g0081 a0003c0051t0013g0121 others(5): Show |
8 | 70 | 0.1143 | 7 | c.192 others(26): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 1/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75978869 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0054others(20): Show | a0001c0001t0005a0001c0001t0008a0001c0001t0035others(23): Show | a0001c0001t0005g0025 a0001c0001t0008g0107 a0001c0001t0035g0104 others(23): Show |
26 | 87 | 0.2989 | 7 | c.298 others(24): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |