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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDLIM1_chr10_95232572_95296003 | 95256986 | A | AGAAAGAA others(14): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18942.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0105 a0002c0003t0001g0295 |
2 | 338 | 0.0059 | 21 | c.533 others(38): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM1_chr10_95232572_95296003 | 95256998 | G | GAAAAGAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187 | 1 | 338 | 0.0030 | 21 | c.533 others(38): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22592077 | C | CTTTTCTT others(14): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0070 | 1 | 380 | 0.0026 | 21 | c.881 others(36): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22599018 | T | TTCCCTCC others(14): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 HG03209.hp1 HG03453.hp2 others(3): Show |
a0001a0002a0019 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0002a0001c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0002g0082 a0001c0001t0002g0097 a0001c0002t0002g0257 others(3): Show |
6 | 380 | 0.0158 | 21 | c.*51 others(32): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4721 | chr8 | TogoVar | |||||||
PDLIM2_chr8_22575475_22599298 | 22599271 | T | TTCCTCGC others(14): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0002a0002c0004t0002 | a0001c0001t0002g0146 a0001c0001t0002g0250 a0001c0001t0002g0264 others(2): Show |
5 | 380 | 0.0132 | 21 | c.*53 others(32): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4974 | chr8 | TogoVar | |||||||
PDLIM7_chr5_177478394_177502604 | 177497048 | G | GGGGAGGG others(14): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0215 | 1 | 440 | 0.0023 | 21 | c.-12 others(36): Show |
PDLIM7 | ENSG00000196923.14 | transcript | ENST00000355841.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
PDPK1_chr16_2533021_2608188 | 2533430 | A | ATTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG01934.hp1 NA18944.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0042 a0001c0001t0006g0001 |
2 | 184 | 0.0109 | 21 | c.-46 others(32): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 4590 | chr16 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0160 | 1 | 356 | 0.0028 | 21 | c.139 others(38): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5A_chr4_39817863_39982911 | 39930246 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0153 | 1 | 356 | 0.0028 | 21 | c.139 others(38): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0333 | 1 | 334 | 0.0030 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0331 | 1 | 334 | 0.0030 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 334 | 0.0030 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0297 | 1 | 334 | 0.0030 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 334 | 0.0030 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PDS5B_chr13_32581452_32783019 | 32655375 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18945.hp2 NA18946.hp2 NA18979.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0056 | a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0315 others(2): Show |
5 | 334 | 0.0150 | 21 | c.313 others(38): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | chr13 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32733985 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0282 | 1 | 334 | 0.0030 | 21 | c.224 others(40): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 20/34 | chr13 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26697566 | C | CCGGACCG others(14): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0295 a0001c0001t0001g0296 |
3 | 416 | 0.0072 | 21 | c.-14 others(30): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 134 | chr10 | TogoVar | |||||||
PDSS1_chr10_26692701_26751798 | 26704083 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(31): Show |
41 | 416 | 0.0986 | 21 | c.163 others(36): Show |
PDSS1 | ENSG00000148459.16 | transcript | ENST00000376215.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDSS2_chr6_107147562_107464564 | 107173572 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 260 | 0.0039 | 21 | c.104 others(42): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0233 | 1 | 260 | 0.0039 | 21 | c.296 others(36): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 14984496 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0060 | 1 | 279 | 0.0036 | 21 | c.21+ others(36): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
PDXDC1_chr16_14970026_15043332 | 15032668 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0006 | a0006c0008 | a0006c0008t0022 | a0006c0008t0022g0087 | 1 | 279 | 0.0036 | 21 | c.157 others(38): Show |
PDXDC1 | ENSG00000179889.20 | transcript | ENST00000396410.9 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GCGGGGGG others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0004 | a0002c0004t0017 | a0002c0004t0017g0333 | 1 | 358 | 0.0028 | 21 | c.143 others(36): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | chr21 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741165 | G | GGGGGGCT others(14): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 358 | 0.0028 | 21 | c.143 others(36): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741188 | G | GGGGGGCT others(14): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0035 | 1 | 358 | 0.0028 | 21 | c.143 others(36): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741315 | G | GGGGGGCT others(14): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0174 | 1 | 358 | 0.0028 | 21 | c.143 others(36): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741442 | G | GGGGGGCT others(14): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0006 | a0003c0006t0006 | a0003c0006t0006g0324 | 1 | 358 | 0.0028 | 21 | c.143 others(36): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0068 | 1 | 216 | 0.0046 | 21 | c.-36 others(42): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0009 | a0009c0014 | a0009c0014t0004 | a0009c0014t0004g0178 | 1 | 216 | 0.0046 | 21 | c.-36 others(42): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31752067 | G | GGTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0010 | a0001c0010t0043 | a0001c0010t0043g0034 | 1 | 216 | 0.0046 | 21 | c.-36 others(42): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31816287 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0045others(3): Show | a0001c0001t0002a0002c0002t0008a0005c0045t0038others(3): Show | a0001c0001t0002g0036 a0002c0002t0008g0175 a0005c0045t0038g0176 others(3): Show |
6 | 216 | 0.0278 | 21 | c.476 others(40): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31844940 | G | GAACAAGT others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0106 | 1 | 216 | 0.0046 | 21 | c.476 others(40): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31969509 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00597.hp2 NA18944.hp2 NA18986.hp2 others(1): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0008 | a0002c0003t0002a0003c0004t0004a0003c0004t0012others(1): Show | a0002c0003t0002g0132 a0003c0004t0004g0113 a0003c0004t0012g0013 others(1): Show |
4 | 216 | 0.0185 | 21 | c.477 others(40): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 32054312 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0006 | a0006c0015 | a0006c0015t0046 | a0006c0015t0046g0005 | 1 | 216 | 0.0046 | 21 | c.190 others(38): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD7_chr10_101002679_101036129 | 101019542 | G | GCCTCCTC others(14): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01346.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(2): Show | a0001c0001t0001g0063 a0001c0001t0003g0062 a0003c0003t0001g0408 others(2): Show |
5 | 432 | 0.0116 | 21 | c.929 others(36): Show |
PDZD7 | ENSG00000186862.20 | transcript | ENST00000619208.6 | protein_coding | 7/16 | chr10 | TogoVar | |||||||
PDZD8_chr10_117272274_117380440 | 117370953 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0047 | 1 | 322 | 0.0031 | 21 | c.872 others(38): Show |
PDZD8 | ENSG00000165650.12 | transcript | ENST00000334464.7 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
PDZK1_chr1_145665985_145712368 | 145671817 | T | TAAGACTA others(14): Show |
intron_variant | MODIFIER | HG01123.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 a0001c0001t0001g0230 |
2 | 322 | 0.0062 | 21 | c.150 others(38): Show |
PDZK1 | ENSG00000174827.14 | transcript | ENST00000417171.6 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73489575 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0037 | 1 | 216 | 0.0046 | 21 | c.919 others(40): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN3_chr3_73377431_73629941 | 73563014 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA18522.hp1 NA18993.hp2 |
a0001 | a0001c0008a0001c0009 | a0001c0008t0001a0001c0009t0001 | a0001c0008t0001g0098 a0001c0009t0001g0038 |
2 | 216 | 0.0093 | 21 | c.918 others(40): Show |
PDZRN3 | ENSG00000121440.15 | transcript | ENST00000263666.9 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41197918 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18612.hp2 NA18945.hp2 others(10): Show |
a0006a0010a0023 | a0006c0006a0006c0023a0006c0052others(3): Show | a0006c0006t0003a0006c0023t0002a0006c0052t0002others(3): Show | a0006c0006t0003g0022 a0006c0006t0003g0024 a0006c0006t0003g0025 others(10): Show |
13 | 206 | 0.0631 | 21 | c.843 others(38): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
PDZRN4_chr12_41183320_41579745 | 41206500 | T | TATTAAGC others(14): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG02257.hp1 others(5): Show |
a0001a0004a0013others(1): Show | a0001c0001a0004c0009a0013c0033others(1): Show | a0001c0001t0001a0004c0009t0001a0013c0033t0006others(1): Show | a0001c0001t0001g0084 a0001c0001t0001g0086 a0004c0009t0001g0095 others(5): Show |
8 | 206 | 0.0388 | 21 | c.843 others(40): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41214430 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 206 | 0.0049 | 21 | c.843 others(40): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDZRN4_chr12_41183320_41579745 | 41402488 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0169 | 1 | 206 | 0.0049 | 21 | c.844 others(42): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | chr12 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77226044 | G | GATATATA others(14): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 NA18980.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0054a0002c0002t0003a0002c0002t0004 | a0001c0001t0054g0302 a0002c0002t0003g0233 a0002c0002t0004g0191 |
3 | 326 | 0.0092 | 21 | c.-11 others(42): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 6/9 | chr15 | TogoVar | |||||||
PEAK1_chr15_77103158_77425104 | 77420165 | C | CGCCCGCC others(14): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0263 | 1 | 326 | 0.0031 | 21 | c.-82 others(30): Show |
PEAK1 | ENSG00000173517.11 | transcript | ENST00000682557.1 | protein_coding | 62 | chr15 | TogoVar | |||||||
PEAK3_chr19_2269631_2287175 | 2286021 | T | TGCCCTCC others(14): Show |
upstream_gene_variant | MODIFIER | NA18974.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0057 | 1 | 454 | 0.0022 | 21 | c.-39 others(32): Show |
PEAK3 | ENSG00000188305.6 | transcript | ENST00000342063.5 | protein_coding | 3847 | chr19 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156892763 | T | TTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 NA19003.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 a0002c0002t0003g0110 |
2 | 384 | 0.0052 | 21 | c.-10 others(32): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 954 | chr1 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156892764 | T | TTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01257.hp2 HG02040.hp1 others(2): Show |
a0002a0007a0027 | a0002c0002a0007c0014a0027c0041 | a0002c0002t0003a0002c0002t0018a0007c0014t0005others(1): Show | a0002c0002t0003g0007 a0002c0002t0003g0077 a0002c0002t0018g0008 others(2): Show |
5 | 384 | 0.0130 | 21 | c.-10 others(32): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 953 | chr1 | TogoVar | |||||||
PEAR1_chr1_156888718_156921429 | 156911076 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00609.hp2 others(49): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0021a0001c0006t0005others(18): Show | a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0001g0130 others(40): Show |
52 | 384 | 0.1354 | 21 | c.195 others(38): Show |
PEAR1 | ENSG00000187800.14 | transcript | ENST00000292357.8 | protein_coding | 15/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PEBP4_chr8_22708251_22932914 | 22708636 | T | TTGTTTGT others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG00738.hp2 others(20): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0005others(7): Show | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0082 others(20): Show |
23 | 278 | 0.0827 | 21 | c.*47 others(32): Show |
PEBP4 | ENSG00000134020.8 | transcript | ENST00000256404.8 | protein_coding | 4614 | chr8 | TogoVar |