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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIH1D1_chr19_49441298_49456814 | 49452302 | C | CAGATCTA others(20): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 359 | 0.0028 | 27 | c.-75 others(36): Show |
PIH1D1 | ENSG00000104872.11 | transcript | ENST00000262265.10 | protein_coding | 489 | chr19 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 91 | 0.0110 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 91 | 0.0110 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 91 | 0.0110 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 NA18961.hp2 NA18997.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 |
4 | 94 | 0.0426 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAT others(20): Show |
downstream_gene_variant | MODIFIER | NA18953.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0010 |
2 | 92 | 0.0217 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0056 |
2 | 92 | 0.0217 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAATATAT others(20): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0073 |
2 | 92 | 0.0217 | 27 | c.*18 others(36): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIK3C2G_chr12_18256518_18653416 | 18303139 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19030.hp2 |
a0007a0009 | a0007c0013a0009c0045 | a0007c0013t0001a0009c0045t0003 | a0007c0013t0001g0001 a0009c0045t0003g0076 |
2 | 122 | 0.0164 | 27 | c.103 others(46): Show |
PIK3C2G | ENSG00000139144.11 | transcript | ENST00000538779.6 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68276713 | A | ACATAAGG others(20): Show |
intron_variant | MODIFIER | NA19059.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0102 | 1 | 306 | 0.0033 | 27 | c.502 others(44): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68306214 | G | GTATAACA others(20): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0068 | a0001c0002t0068g0133 | 1 | 306 | 0.0033 | 27 | c.*86 others(38): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 4394 | chr5 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68306233 | G | GAATGTAT others(20): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0008 | a0001c0008t0029 | a0001c0008t0029g0205 | 1 | 242 | 0.0041 | 27 | c.*86 others(38): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 4413 | chr5 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68306233 | G | GAATGTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00673.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(17): Show | a0001c0001t0002g0021 a0001c0001t0002g0024 a0001c0001t0002g0036 others(56): Show |
60 | 301 | 0.1993 | 27 | c.*86 others(38): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 4413 | chr5 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68306260 | C | CAATGTAT others(20): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0041 | 1 | 305 | 0.0033 | 27 | c.*86 others(38): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 4440 | chr5 | TogoVar | |||||||
PIMREG_chr17_6439455_6456469 | 6455018 | C | CGACTTTG others(20): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 310 | 0.0032 | 27 | c.*46 others(38): Show |
PIMREG | ENSG00000129195.16 | transcript | ENST00000572447.6 | protein_coding | 3550 | chr17 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 29 | 0.0345 | 27 | c.*33 others(38): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(20): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02129.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0067 a0001c0001t0002g0096 others(3): Show |
6 | 33 | 0.1818 | 27 | c.120 others(46): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01361.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(4): Show | a0001c0001t0001g0195 a0001c0001t0008g0168 a0001c0001t0018g0049 others(4): Show |
7 | 55 | 0.1273 | 27 | c.49- others(44): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599034 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0136 | 1 | 145 | 0.0069 | 27 | c.366 others(46): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599035 | T | TATATATA others(20): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01517.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0002g0207 a0001c0001t0004g0097 a0001c0001t0010g0134 others(1): Show |
4 | 195 | 0.0205 | 27 | c.366 others(46): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631641 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0196 | 1 | 211 | 0.0047 | 27 | c.367 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631647 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03017.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0035a0001c0001t0049 | a0001c0001t0001g0183 a0001c0001t0035g0151 a0001c0001t0049g0202 |
3 | 152 | 0.0197 | 27 | c.367 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631651 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0179 | 1 | 125 | 0.0080 | 27 | c.367 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631653 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0182 | 1 | 106 | 0.0094 | 27 | c.367 others(42): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01257.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0002g0104 others(3): Show |
6 | 48 | 0.1250 | 27 | c.683 others(44): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(20): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0085 others(20): Show |
33 | 39 | 0.8462 | 27 | c.-18 others(38): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PITX3_chr10_102225189_102246512 | 102242928 | C | CAAAAAAA others(20): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 37 | 0.0270 | 27 | c.-16 others(38): Show |
PITX3 | ENSG00000107859.11 | transcript | ENST00000370002.8 | protein_coding | 1417 | chr10 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03654.hp1 |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0001a0006c0009t0001 | a0002c0002t0001g0226 a0006c0009t0001g0354 |
2 | 147 | 0.0136 | 27 | c.103 others(42): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340621 | T | TCTCCCTC others(20): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 332 | 0.0030 | 27 | c.200 others(46): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340621 | T | TCTCCCTC others(20): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0202 | 1 | 332 | 0.0030 | 27 | c.200 others(46): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340667 | C | CCCTCCCC others(20): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0329 | 1 | 130 | 0.0077 | 27 | c.200 others(46): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02135.hp2 NA18939.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0024 a0002c0002t0001g0029 a0002c0002t0001g0292 others(1): Show |
4 | 29 | 0.1379 | 27 | c.128 others(46): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104927 | A | AGGGGAGG others(20): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0023 | a0023c0069 | a0023c0069t0001 | a0023c0069t0001g0142 | 1 | 213 | 0.0047 | 27 | c.801 others(44): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2126395 | C | CAGGGCTG others(20): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0025 | a0008c0025t0005 | a0008c0025t0005g0130 | 1 | 214 | 0.0047 | 27 | c.216 others(44): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 1/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2128090 | G | GAGGGAGG others(20): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19003.hp1 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0070 a0001c0011t0001g0148 |
2 | 187 | 0.0107 | 27 | c.215 others(44): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 1/45 | chr16 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51702145 | T | TTATTATA others(20): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03486.hp2 |
a0002a0004 | a0002c0005a0004c0006 | a0002c0005t0002a0004c0006t0002 | a0002c0005t0002g0021 a0004c0006t0002g0046 |
2 | 132 | 0.0152 | 27 | c.101 others(50): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 60/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51783399 | T | TATTTATT others(20): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG00741.hp2 others(62): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0009others(41): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(45): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0058 others(62): Show |
65 | 129 | 0.5039 | 27 | c.844 others(46): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAATAT others(20): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02896.hp1 |
a0004a0029 | a0004c0014a0029c0057 | a0004c0014t0004a0029c0057t0014 | a0004c0014t0004g0033 a0029c0057t0014g0067 |
2 | 43 | 0.0465 | 27 | c.590 others(46): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51976944 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0033 | a0033c0084 | a0033c0084t0006 | a0033c0084t0006g0087 | 1 | 33 | 0.0303 | 27 | c.575 others(48): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155297378 | T | TCCTTATG others(20): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0136 | 1 | 309 | 0.0032 | 27 | c.284 others(44): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKN3_chr9_128697503_128725916 | 128717117 | C | CTTTTTTT others(20): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 12 | 0.0833 | 27 | c.198 others(44): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAAAAAAT others(20): Show |
intron_variant | MODIFIER | HG04199.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008 | a0001c0001t0007g0011 a0001c0001t0008g0166 |
2 | 197 | 0.0102 | 27 | c.-57 others(46): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987404 | A | AAATATAT others(20): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0162 | 1 | 196 | 0.0051 | 27 | c.-57 others(46): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125222629 | G | GTGTGTAT others(20): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0023 a0001c0001t0013g0067 |
2 | 214 | 0.0093 | 27 | c.-20 others(48): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32846745 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG03579.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0221 a0002c0002t0003g0142 a0002c0002t0003g0219 |
3 | 239 | 0.0126 | 27 | c.137 others(46): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32865681 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02559.hp1 others(9): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0140 a0001c0001t0001g0172 a0001c0001t0005g0178 others(9): Show |
12 | 137 | 0.0876 | 27 | c.117 others(46): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PLA2G12A_chr4_109704989_109735070 | 109728880 | A | AGTGACTT others(20): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 410 | 0.0024 | 27 | c.208 others(42): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
PLA2G4A_chr1_186823949_186993981 | 186830608 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 77 | 0.0130 | 27 | c.-70 others(44): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PLA2G4C_chr19_48042846_48115817 | 48105929 | C | CTTTCTTT others(20): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 274 | 0.0036 | 27 | c.9-4 others(38): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48110531 | T | TGCTCCGG others(20): Show |
5_prime_UTR_variant | MODIFIER | HG02723.hp2 HG03453.hp1 NA20129.hp2 others(1): Show |
a0004a0021 | a0004c0007a0021c0057a0021c0058 | a0004c0007t0015a0004c0007t0029a0021c0057t0015others(1): Show | a0004c0007t0015g0311 a0004c0007t0029g0310 a0021c0057t0015g0313 others(1): Show |
4 | 88 | 0.0455 | 27 | c.-78 others(34): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 1/17 | 4003 | chr19 | TogoVar |