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 | 759609 | T | TTCCGGAC others(99): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 a0001c0001t0003g0272 |
2 | 366 | 0.0055 | 106 | c.463 others(123): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 759662 | T | TTCCGGAC others(99): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0128 | 1 | 366 | 0.0027 | 106 | c.463 others(123): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149786239 | G | GGGACGGG others(99): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 334 | 0.0030 | 106 | c.193 others(123): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42769688 | A | ACACATAC others(99): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02559.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0002g0128 others(2): Show |
5 | 324 | 0.0154 | 106 | c.159 others(123): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDE9A_chr21_42648621_42780509 | 42769691 | C | CACGCACA others(99): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03471.hp2 NA19030.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0005 | a0001c0005t0001g0169 a0001c0005t0001g0268 a0001c0005t0005g0236 |
3 | 324 | 0.0093 | 106 | c.159 others(123): Show |
PDE9A | ENSG00000160191.18 | transcript | ENST00000291539.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107402455 | T | TATATATA others(99): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0013 | 1 | 260 | 0.0039 | 106 | c.296 others(125): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107402466 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 260 | 0.0039 | 106 | c.296 others(125): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(99): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0215 | 1 | 358 | 0.0028 | 106 | c.143 others(121): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741372 | C | CAGGGGGG others(99): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0062 | 1 | 358 | 0.0028 | 106 | c.143 others(121): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(99): Show |
downstream_gene_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 426 | 0.0024 | 106 | c.*48 others(117): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(99): Show |
downstream_gene_variant | MODIFIER | HG01975.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0100 |
2 | 426 | 0.0047 | 106 | c.*48 others(117): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PDZK1IP1_chr1_47178582_47195036 | 47179107 | T | TTCTCTCT others(99): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0087 others(1): Show |
7 | 426 | 0.0164 | 106 | c.*48 others(117): Show |
PDZK1IP1 | ENSG00000162366.8 | transcript | ENST00000294338.7 | protein_coding | 4474 | chr1 | TogoVar | |||||||
PEBP1_chr12_118131124_118150584 | 118133225 | T | TCATTTCA others(99): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 426 | 0.0024 | 106 | c.-29 others(117): Show |
PEBP1 | ENSG00000089220.5 | transcript | ENST00000261313.3 | protein_coding | 2898 | chr12 | TogoVar | |||||||
PGAM5_chr12_132705842_132727734 | 132718545 | T | TGTCCTGG others(99): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 394 | 0.0025 | 106 | c.719 others(121): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGC_chr6_41731711_41752397 | 41738132 | G | GCATATAT others(99): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 464 | 0.0022 | 106 | c.916 others(121): Show |
PGC | ENSG00000096088.16 | transcript | ENST00000373025.7 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
PGM5_chr9_68351611_68536061 | 68502328 | C | CAAAAGGG others(99): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0151 | 1 | 246 | 0.0041 | 106 | c.161 others(125): Show |
PGM5 | ENSG00000154330.13 | transcript | ENST00000396396.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PIGH_chr14_67584318_67605268 | 67590331 | C | CAACCTCC others(99): Show |
intron_variant | MODIFIER | NA18984.hp2 NA19067.hp2 NA19068.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0043 |
4 | 462 | 0.0087 | 106 | c.475 others(121): Show |
PIGH | ENSG00000100564.9 | transcript | ENST00000216452.9 | protein_coding | 3/3 | chr14 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17193866 | A | AGAGGAGG others(99): Show |
intron_variant | MODIFIER | HG00438.hp2 NA19077.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0022 | a0001c0003t0004g0053 a0001c0003t0022g0052 |
2 | 342 | 0.0059 | 106 | c.-66 others(125): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3C2A_chr11_17081575_17212986 | 17193868 | A | AGGAGGGG others(99): Show |
intron_variant | MODIFIER | HG02647.hp1 NA18957.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0004 | a0001c0001t0003g0073 a0001c0001t0003g0079 a0001c0003t0004g0030 others(1): Show |
4 | 342 | 0.0117 | 106 | c.-66 others(125): Show |
PIK3C2A | ENSG00000011405.14 | transcript | ENST00000691414.1 | protein_coding | 1/32 | chr11 | TogoVar | |||||||
PIK3R1_chr5_68210756_68306821 | 68262870 | T | TATATACA others(99): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0010 | a0001c0010t0051 | a0001c0010t0051g0215 | 1 | 308 | 0.0033 | 106 | c.335 others(125): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | chr5 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67494185 | T | TTCTTTCT others(99): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 218 | 0.0046 | 106 | c.49- others(123): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6560582 | A | AAGACGGA others(99): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0004 | a0004c0012 | a0004c0012t0002 | a0004c0012t0002g0106 | 1 | 218 | 0.0046 | 106 | c.-41 others(117): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4028 | chr17 | TogoVar | |||||||
PLD5_chr1_242077986_242529697 | 242394989 | A | ATATATAT others(99): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01981.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0018a0001c0002t0011others(2): Show | a0001c0001t0001g0069 a0001c0001t0018g0050 a0001c0002t0011g0157 others(2): Show |
5 | 188 | 0.0266 | 106 | c.190 others(125): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 97312 | A | AAAGTCCA others(99): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp2 others(38): Show |
a0001a0006a0008others(18): Show | a0001c0011a0006c0020a0006c0070others(30): Show | a0001c0011t0048a0006c0020t0018a0006c0020t0056others(36): Show | a0001c0011t0048g0179 a0006c0020t0018g0198 a0006c0020t0056g0199 others(38): Show |
41 | 210 | 0.1952 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 97312 | A | AAAGTCCA others(99): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0013 | a0013c0067 | a0013c0067t0038 | a0013c0067t0038g0166 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 100531 | A | AAATCCAT others(99): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02809.hp2 |
a0018a0029 | a0018c0033a0029c0059 | a0018c0033t0039a0029c0059t0040 | a0018c0033t0039g0140 a0029c0059t0040g0158 |
2 | 210 | 0.0095 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101008 | A | AAATCCAT others(99): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0046 | a0003c0046t0001 | a0003c0046t0001g0116 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101087 | T | TCTGTAGG others(99): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0033 | a0033c0077 | a0033c0077t0061 | a0033c0077t0061g0178 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101286 | C | CCTGGAAA others(99): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02622.hp1 |
a0010 | a0010c0023a0010c0080 | a0010c0023t0041a0010c0080t0059 | a0010c0023t0041g0184 a0010c0080t0059g0185 |
2 | 210 | 0.0095 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101297 | C | CCTGTAGG others(99): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0010 | a0010c0023 | a0010c0023t0044 | a0010c0023t0044g0187 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101339 | C | CCTGGAAA others(99): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0008 | a0008c0025 | a0008c0025t0069 | a0008c0025t0069g0174 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101450 | G | GAAAAGCC others(99): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0032 | a0032c0062 | a0032c0062t0020 | a0032c0062t0020g0188 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101854 | T | TAATCCAT others(99): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0031 | a0031c0026 | a0031c0026t0060 | a0031c0026t0060g0169 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101960 | T | TAATCCAT others(99): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 210 | 0.0048 | 106 | c.45+ others(121): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHH1_chr14_67528290_67594612 | 67590331 | C | CAACCTCC others(99): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 NA19068.hp1 NA19080.hp2 |
a0004 | a0004c0006 | a0004c0006t0001a0004c0006t0004 | a0004c0006t0001g0331 a0004c0006t0001g0344 a0004c0006t0004g0285 |
3 | 414 | 0.0073 | 106 | c.*30 others(117): Show |
PLEKHH1 | ENSG00000054690.14 | transcript | ENST00000329153.10 | protein_coding | 720 | chr14 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349163 | T | TTTCTTTC others(99): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073 | 1 | 436 | 0.0023 | 106 | c.*31 others(117): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2291 | chr19 | TogoVar | |||||||
PLVAP_chr19_17346455_17382342 | 17349175 | T | TTCCTTCC others(99): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 436 | 0.0023 | 106 | c.*31 others(117): Show |
PLVAP | ENSG00000130300.9 | transcript | ENST00000252590.9 | protein_coding | 2279 | chr19 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152998621 | T | TATATATT others(99): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 286 | 0.0035 | 106 | c.-49 others(117): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4506 | chrX | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325037 | A | AGAGTGAG others(99): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 398 | 0.0025 | 106 | c.194 others(123): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70206903 | A | AGGGGAGG others(99): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0264 | 1 | 408 | 0.0025 | 106 | c.726 others(121): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81642673 | A | ACGTATGT others(99): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054 | 1 | 168 | 0.0060 | 106 | c.303 others(125): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | |||||||
PPP1R16B_chr20_38800697_38928024 | 38895974 | C | CCCTCCCT others(99): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0161 | 1 | 244 | 0.0041 | 106 | c.467 others(121): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38896155 | C | CCTCACTT others(99): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0089 | 1 | 244 | 0.0041 | 106 | c.467 others(121): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4/10 | chr20 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131917408 | G | GACAGTGT others(99): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0039 a0001c0001t0026g0190 |
2 | 394 | 0.0051 | 106 | c.100 others(125): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PPP3CA_chr4_101018418_101352526 | 101106453 | G | GAAAGAAA others(99): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 192 | 0.0052 | 106 | c.384 others(123): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 3/13 | chr4 | TogoVar | |||||||
PPP4R2_chr3_72991811_73074198 | 73018452 | T | TGTTATGT others(99): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0147 | 1 | 360 | 0.0028 | 106 | c.116 others(125): Show |
PPP4R2 | ENSG00000163605.16 | transcript | ENST00000356692.10 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(99): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02280.hp1 HG02559.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 6 | 273 | 0.0220 | 106 | c.313 others(123): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRICKLE3_chrX_49169802_49191373 | 49181565 | G | GTATATGT others(99): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 273 | 0.0037 | 106 | c.313 others(123): Show |
PRICKLE3 | ENSG00000012211.13 | transcript | ENST00000599218.6 | protein_coding | 3/8 | chrX | TogoVar | |||||||
PRIM2_chr6_57312630_57651850 | 57470391 | G | GCCTCTCC others(99): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 | 1 | 300 | 0.0033 | 106 | c.694 others(125): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PRIM2_chr6_57312630_57651850 | 57470413 | C | CCCCTCTC others(99): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 300 | 0.0033 | 106 | c.694 others(125): Show |
PRIM2 | ENSG00000146143.19 | transcript | ENST00000615550.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |