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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCGF3_chr4_700832_775089 | 725521 | CGTGGGCT others(77): Show |
C | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0075 | 1 | 366 | 0.0027 | -84 | c.-18 others(103): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64277893 | AGAGTCAT others(77): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp1 HG00741.hp2 others(39): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0021 a0001c0001t0001g0022 others(23): Show |
42 | 332 | 0.1265 | -84 | c.*42 others(95): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 1668 | chr20 | TogoVar | |||||||
PCMTD2_chr20_64250748_64281226 | 64278106 | TCTGGGCA others(77): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00639.hp2 others(70): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0002g0017 a0001c0001t0002g0121 a0001c0001t0002g0175 others(43): Show |
73 | 332 | 0.2199 | -84 | c.*45 others(95): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 1881 | chr20 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59434007 | TTCTTTAG others(77): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 74 | 0.0135 | -84 | c.456 others(105): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 635064 | CGCCTGCC others(77): Show |
C | intron_variant | MODIFIER | HG01255.hp2 HG01975.hp2 HG02647.hp1 others(7): Show |
a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0268 a0002c0003t0005g0269 a0002c0003t0005g0270 others(7): Show |
10 | 308 | 0.0325 | -84 | c.621 others(99): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135934931 | TTAAATAT others(77): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01081.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0076 others(16): Show |
19 | 142 | 0.1338 | -84 | c.22- others(101): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31691470 | CCTGGCGC others(77): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0124 | 1 | 216 | 0.0046 | -84 | c.-36 others(105): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31849881 | TATATATA others(77): Show |
T | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 216 | 0.0046 | -84 | c.476 others(103): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 977725 | CCGACCAA others(77): Show |
C | intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 408 | 0.0025 | -84 | c.214 others(103): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 977780 | AATCCCCC others(77): Show |
A | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 408 | 0.0025 | -84 | c.214 others(103): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59674477 | CCCCTTGT others(77): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 250 | 0.0040 | -84 | c.119 others(103): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338453 | GAGCCGGG others(77): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02886.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0001a0001c0004t0005others(1): Show | a0001c0002t0002g0049 a0001c0004t0001g0044 a0001c0004t0005g0340 others(1): Show |
5 | 425 | 0.0118 | -84 | c.-13 others(99): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130338537 | AAGCCGGG others(77): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02572.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0180 a0001c0001t0002g0178 a0001c0001t0002g0183 others(3): Show |
6 | 425 | 0.0141 | -84 | c.-13 others(99): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314965 | AGGAAGGA others(77): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02145.hp2 HG02148.hp2 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0009others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(1): Show | a0001c0001t0001g0049 a0001c0001t0001g0195 a0002c0003t0001g0145 others(7): Show |
10 | 306 | 0.0327 | -84 | c.349 others(103): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PLCXD3_chr5_41301952_41515601 | 41411872 | CTCCATAT others(77): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01106.hp2 others(57): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(32): Show | a0001c0001t0005g0153 a0001c0001t0007g0108 a0001c0001t0007g0109 others(57): Show |
60 | 244 | 0.2459 | -84 | c.104 others(103): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 164924 | ACACTAAT others(77): Show |
A | intron_variant | MODIFIER | HG02809.hp1 HG02818.hp2 NA18906.hp1 |
a0013a0031 | a0013c0027a0013c0068a0031c0026 | a0013c0027t0049a0013c0068t0051a0031c0026t0060 | a0013c0027t0049g0171 a0013c0068t0051g0170 a0031c0026t0060g0169 |
3 | 210 | 0.0143 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165565 | GGCTCACA others(77): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0005 | a0002c0005t0129 | a0002c0005t0129g0043 | 1 | 210 | 0.0048 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165573 | GTAATCCT others(77): Show |
G | intron_variant | MODIFIER | NA18747.hp2 | a0041 | a0041c0049 | a0041c0049t0131 | a0041c0049t0131g0067 | 1 | 210 | 0.0048 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165729 | GCGGGGCT others(77): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG03139.hp2 others(2): Show |
a0009a0010 | a0009c0012a0009c0036a0010c0080 | a0009c0012t0033a0009c0012t0114a0009c0012t0115others(2): Show | a0009c0012t0033g0161 a0009c0012t0114g0156 a0009c0012t0115g0157 others(2): Show |
5 | 210 | 0.0238 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165957 | AGCTCACA others(77): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0003 | a0003c0004 | a0003c0004t0117 | a0003c0004t0117g0070 | 1 | 210 | 0.0048 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166037 | GCAGGGCT others(77): Show |
G | intron_variant | MODIFIER | HG00099.hp2 NA18971.hp2 NA19056.hp1 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0066a0002c0003t0071a0002c0005t0072 | a0002c0003t0066g0209 a0002c0003t0071g0095 a0002c0005t0072g0153 |
3 | 210 | 0.0143 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166039 | AGGGCTCA others(77): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG03669.hp2 |
a0003a0037 | a0003c0004a0037c0047 | a0003c0004t0116a0037c0047t0122 | a0003c0004t0116g0103 a0037c0047t0122g0002 |
2 | 210 | 0.0095 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166138 | GCTCTGAC others(77): Show |
G | intron_variant | MODIFIER | HG01192.hp1 | a0002 | a0002c0005 | a0002c0005t0070 | a0002c0005t0070g0100 | 1 | 210 | 0.0048 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166237 | GGCTCACA others(77): Show |
G | intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0093 | a0001c0001t0093g0105 | 1 | 210 | 0.0048 | -84 | c.347 others(103): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHN1_chr1_961482_980865 | 977780 | AATCCCCC others(77): Show |
A | downstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 422 | 0.0024 | -84 | c.*32 others(95): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 1916 | chr1 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325143 | AGAGTGAG others(77): Show |
A | intron_variant | MODIFIER | NA18940.hp2 NA18964.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 a0001c0001t0002g0220 |
3 | 398 | 0.0075 | -84 | c.194 others(101): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18969274 | GATATATA others(77): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 |
a0008 | a0008c0008 | a0008c0008t0011a0008c0008t0012 | a0008c0008t0011g0064 a0008c0008t0012g0065 |
2 | 67 | 0.0299 | -84 | c.521 others(101): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PPP2R2C_chr4_6315581_6477614 | 6378181 | CATGCTGC others(77): Show |
C | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 298 | 0.0034 | -84 | c.334 others(99): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3181580 | GGTCTTAC others(77): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0100 | 1 | 210 | 0.0048 | -84 | c.38- others(99): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | chr1 | TogoVar | |||||||
PRDM9_chr5_23502609_23533093 | 23526890 | CACACACA others(77): Show |
C | conservative_inframe_deletion | MODERATE | HG01993.hp2 HG02809.hp1 |
a0021a0026 | a0021c0049a0026c0048 | a0021c0049t0002a0026c0048t0001 | a0021c0049t0002g0001 a0026c0048t0001g0045 |
2 | 424 | 0.0047 | -84 | c.193 others(93): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2127/3193 | 1939/2685 | 647/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527467 | TCACCAGA others(77): Show |
T | conservative_inframe_deletion | MODERATE | HG06807.hp2 | a0036 | a0036c0044 | a0036c0044t0001 | a0036c0044t0001g0080 | 1 | 424 | 0.0024 | -84 | c.244 others(93): Show |
p.Ser others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2628/3193 | 2440/2685 | 814/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527528 | AGCAATAA others(77): Show |
A | disruptive_inframe_deletion | MODERATE | HG02809.hp1 | a0026 | a0026c0048 | a0026c0048t0001 | a0026c0048t0001g0045 | 1 | 424 | 0.0024 | -84 | c.249 others(93): Show |
p.Val others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2684/3193 | 2496/2685 | 832/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRDM9_chr5_23502609_23533093 | 23527584 | TGTCTGCA others(77): Show |
T | conservative_inframe_deletion | MODERATE | HG02572.hp2 NA18985.hp1 NA19004.hp2 |
a0011 | a0011c0009 | a0011c0009t0001 | a0011c0009t0001g0054 a0011c0009t0001g0058 a0011c0009t0001g0161 |
3 | 424 | 0.0071 | -84 | c.252 others(93): Show |
p.Arg others(13): Show |
PRDM9 | ENSG00000164256.11 | transcript | ENST00000296682.4 | protein_coding | 11/11 | 2712/3193 | 2524/2685 | 842/894 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PRKAG2_chr7_151551127_151882115 | 151874219 | GATGTATA others(77): Show |
G | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 | 1 | 252 | 0.0040 | -84 | c.114 others(101): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PRKCG_chr19_53877197_53912652 | 53898791 | GTCCTTGG others(77): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 a0001c0001t0001g0193 |
2 | 362 | 0.0055 | -84 | c.128 others(101): Show |
PRKCG | ENSG00000126583.12 | transcript | ENST00000263431.4 | protein_coding | 11/17 | chr19 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2123807 | TTAGGGTC others(77): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106 a0001c0001t0002g0045 |
2 | 286 | 0.0070 | -84 | c.335 others(103): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2142052 | ATCCAGGG others(77): Show |
A | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0154 | 1 | 286 | 0.0035 | -84 | c.421 others(101): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161764 | GTCCTCCT others(77): Show |
G | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 378 | 0.0027 | -84 | c.259 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161928 | CCCCATCC others(77): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG02647.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0195 others(1): Show |
4 | 378 | 0.0106 | -84 | c.259 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113161966 | CTCCCCAC others(77): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(44): Show |
a0001a0003a0004 | a0001c0001a0003c0005a0004c0009 | a0001c0001t0001a0001c0001t0002a0003c0005t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(19): Show |
47 | 378 | 0.1243 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162014 | ACATCCTC others(77): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 | 1 | 378 | 0.0027 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162308 | ACATCCTC others(77): Show |
A | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 378 | 0.0027 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162392 | TCATCCTC others(77): Show |
T | intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0087 | 1 | 378 | 0.0027 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162558 | CCACATCC others(77): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0269 | 1 | 378 | 0.0027 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PROZ_chr13_113153648_113177386 | 113162602 | TCATCCTC others(77): Show |
T | intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 378 | 0.0027 | -84 | c.260 others(99): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 841476 | GTGAGTGA others(77): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0137 a0001c0001t0004g0135 a0001c0001t0004g0136 |
3 | 415 | 0.0072 | -84 | c.61+ others(97): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRTN3_chr19_835999_853175 | 841534 | CAATGAGT others(77): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(176): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0036 a0001c0001t0001g0049 a0001c0001t0001g0059 others(144): Show |
179 | 415 | 0.4313 | -84 | c.61+ others(97): Show |
PRTN3 | ENSG00000196415.10 | transcript | ENST00000234347.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PSG5_chr19_43162743_43191536 | 43177348 | TTCTGACA others(77): Show |
T | intron_variant | MODIFIER | HG02886.hp1 | a0019 | a0019c0019 | a0019c0019t0003 | a0019c0019t0003g0198 | 1 | 430 | 0.0023 | -84 | c.431 others(101): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 482976 | AGTTCTGT others(77): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 others(6): Show |
9 | 346 | 0.0260 | -84 | c.436 others(101): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75503699 | CCACCCCG others(77): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 326 | 0.0031 | -84 | c.968 others(101): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar |