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 | 732299 | A | ACCTCCCT others(34): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(20): Show |
a0001a0002 | a0001c0003a0002c0007 | a0001c0003t0005a0001c0003t0010a0001c0003t0029others(3): Show | a0001c0003t0005g0123 a0001c0003t0005g0124 a0001c0003t0005g0125 others(20): Show |
23 | 363 | 0.0634 | 41 | c.-10 others(58): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83038025 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0011 | a0011c0096 | a0011c0096t0019 | a0011c0096t0019g0186 | 1 | 177 | 0.0056 | 41 | c.330 others(62): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83096963 | T | TATATTAT others(34): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0013 | a0013c0098 | a0013c0098t0002 | a0013c0098t0002g0082 | 1 | 168 | 0.0060 | 41 | c.330 others(62): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(34): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 208 | 0.0048 | 41 | c.354 others(58): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(34): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 375 | 0.0027 | 41 | c.354 others(58): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(34): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 375 | 0.0027 | 41 | c.354 others(58): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GTGTGTGT others(34): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 375 | 0.0027 | 41 | c.354 others(58): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
PCNX1_chr14_70902459_71120382 | 70910055 | T | TCCTCCCC others(34): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18981.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0052a0003c0007t0015 | a0001c0001t0052g0211 a0003c0007t0015g0212 |
2 | 315 | 0.0063 | 41 | c.153 others(58): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCYOX1L_chr5_149353046_149374653 | 149370033 | T | TTTTTTTT others(34): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18961.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0046 a0001c0001t0002g0001 a0001c0001t0002g0009 |
8 | 279 | 0.0287 | 41 | c.*13 others(52): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 381 | chr5 | TogoVar | |||||||
PCYOX1L_chr5_149353046_149374653 | 149370037 | T | TTTTTTTT others(34): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 270 | 0.0037 | 41 | c.*13 others(52): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 385 | chr5 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAT others(34): Show |
intron_variant | MODIFIER | HG00609.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0102 a0001c0001t0028g0092 |
2 | 120 | 0.0167 | 41 | c.117 others(58): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAATATAT others(34): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19088.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009 | a0001c0001t0002g0037 a0001c0001t0008g0035 a0001c0001t0009g0036 |
3 | 121 | 0.0248 | 41 | c.117 others(58): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 119 | 0.0084 | 41 | c.117 others(58): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66959935 | A | ATATATAT others(34): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0252 | 1 | 167 | 0.0060 | 41 | c.-18 others(52): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 1553 | chr11 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 298726 | A | ACCCAGCT others(34): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 |
3 | 311 | 0.0096 | 41 | c.164 others(58): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 298822 | C | CCAGCTGC others(34): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp2 others(27): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0007a0002c0004t0003 | a0002c0003t0001g0272 a0002c0003t0001g0274 a0002c0003t0001g0275 others(27): Show |
30 | 315 | 0.0952 | 41 | c.164 others(58): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 298822 | C | CCAGCTGC others(34): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02886.hp2 others(4): Show |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0021 a0003c0005t0004g0303 a0003c0005t0004g0304 others(3): Show |
7 | 292 | 0.0240 | 41 | c.164 others(58): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318238 | C | CTCACCCT others(34): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01099.hp2 HG01891.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0001a0003c0005t0004 | a0001c0002t0001g0109 a0003c0005t0004g0021 a0003c0005t0004g0303 others(4): Show |
8 | 336 | 0.0238 | 41 | c.*37 others(52): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3265 | chr5 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 318238 | C | CTCACCCT others(34): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 NA21309.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0062 a0002c0003t0001g0290 |
2 | 330 | 0.0061 | 41 | c.*37 others(52): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3265 | chr5 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 103984997 | T | TTAATATA others(34): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 198 | 0.0051 | 41 | c.510 others(60): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
PDIA2_chr16_278164_292215 | 285925 | T | TCCCAACC others(34): Show |
intron_variant | MODIFIER | HG03239.hp2 NA19054.hp2 |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0011t0001 | a0002c0002t0001g0037 a0002c0011t0001g0037 |
2 | 407 | 0.0049 | 41 | c.111 others(58): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22599271 | T | TTCCTCGC others(34): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0260 | 1 | 363 | 0.0028 | 41 | c.*53 others(52): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 4974 | chr8 | TogoVar | |||||||
PDS5B_chr13_32581452_32783019 | 32655374 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0062 | 1 | 117 | 0.0085 | 41 | c.313 others(58): 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(34): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0082 | 1 | 117 | 0.0085 | 41 | c.313 others(58): 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(34): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 117 | 0.0085 | 41 | c.313 others(58): 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(34): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 212 | 0.0047 | 41 | c.313 others(58): Show |
PDS5B | ENSG00000083642.19 | transcript | ENST00000315596.15 | protein_coding | 3/34 | chr13 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107458412 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 75 | 0.0133 | 41 | c.296 others(56): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107464061 | T | TATATATA others(34): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 228 | 0.0044 | 41 | c.-47 others(52): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4498 | chr6 | TogoVar | |||||||
PDSS2_chr6_107147562_107464564 | 107464061 | T | TATATATA others(34): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG00741.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0141 a0001c0001t0001g0142 others(26): Show |
29 | 256 | 0.1133 | 41 | c.-47 others(52): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4498 | chr6 | TogoVar | |||||||
PDZD2_chr5_31634131_32115932 | 31689353 | A | ATATATAT others(34): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0181 | 1 | 30 | 0.0333 | 41 | c.-36 others(62): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31777632 | T | TATGCACC others(34): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02723.hp1 others(3): Show |
a0001a0002a0005others(2): Show | a0001c0007a0002c0002a0005c0045others(2): Show | a0001c0007t0009a0002c0002t0002a0002c0002t0008others(3): Show | a0001c0007t0009g0097 a0002c0002t0002g0183 a0002c0002t0008g0059 others(3): Show |
6 | 214 | 0.0280 | 41 | c.-36 others(62): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDZD2_chr5_31634131_32115932 | 31777884 | C | CACTCTGT others(34): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0026others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0049 a0001c0001t0001g0146 a0001c0001t0001g0152 others(39): Show |
42 | 214 | 0.1963 | 41 | c.-36 others(62): Show |
PDZD2 | ENSG00000133401.16 | transcript | ENST00000438447.2 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PERM1_chr1_970198_987093 | 984610 | T | TTCTTTCT others(34): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0130 | 1 | 405 | 0.0025 | 41 | c.-26 others(52): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2518 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(34): Show |
upstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 39 | 0.0256 | 41 | c.-26 others(52): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(34): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0019 |
2 | 40 | 0.0500 | 41 | c.-26 others(52): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(34): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0137 |
2 | 40 | 0.0500 | 41 | c.-26 others(52): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERM1_chr1_970198_987093 | 984611 | C | CTTTATTT others(34): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 39 | 0.0256 | 41 | c.-26 others(52): Show |
PERM1 | ENSG00000187642.10 | transcript | ENST00000433179.4 | protein_coding | 2519 | chr1 | TogoVar | |||||||
PERP_chr6_138083505_138112419 | 138086314 | A | ATATATAT others(34): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0006 | 1 | 196 | 0.0051 | 41 | c.*57 others(52): Show |
PERP | ENSG00000112378.12 | transcript | ENST00000421351.4 | protein_coding | 2190 | chr6 | TogoVar | |||||||
PEX2_chr8_76975258_77005078 | 76997685 | T | TATTGACA others(34): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0122 | 1 | 410 | 0.0024 | 41 | c.-16 others(60): Show |
PEX2 | ENSG00000164751.15 | transcript | ENST00000357039.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196742 | T | TGTCATAT others(34): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0203 | 1 | 426 | 0.0023 | 41 | c.449 others(58): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PEX5_chr12_7184686_7216459 | 7196952 | T | TGTCATAT others(34): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0266 | 1 | 408 | 0.0025 | 41 | c.449 others(58): Show |
PEX5 | ENSG00000139197.11 | transcript | ENST00000675855.1 | protein_coding | 5/15 | chr12 | TogoVar | |||||||
PFKP_chr10_3062548_3141802 | 3106629 | A | ACCCCTGC others(34): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0003 | a0001c0003t0011 | a0001c0003t0011g0053 | 1 | 400 | 0.0025 | 41 | c.775 others(56): Show |
PFKP | ENSG00000067057.19 | transcript | ENST00000381125.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PGA4_chr11_61217347_61236694 | 61220796 | C | CTGGTGCA others(34): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 7 | 304 | 0.0230 | 41 | c.-16 others(52): Show |
PGA4 | ENSG00000229183.10 | transcript | ENST00000378149.9 | protein_coding | 1550 | chr11 | TogoVar | |||||||
PGA5_chr11_61236175_61256444 | 61239622 | C | CTGGTGCA others(34): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0148 | 1 | 404 | 0.0025 | 41 | c.-16 others(52): Show |
PGA5 | ENSG00000256713.8 | transcript | ENST00000312403.10 | protein_coding | 1552 | chr11 | TogoVar | |||||||
PGAP3_chr17_39666122_39693057 | 39691556 | A | AAAAAAAA others(34): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 243 | 0.0041 | 41 | c.-35 others(52): Show |
PGAP3 | ENSG00000161395.14 | transcript | ENST00000300658.9 | protein_coding | 3500 | chr17 | TogoVar | |||||||
PHACTR1_chr6_12711767_13292837 | 13195757 | C | CAAAAAAA others(34): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 47 | 0.0213 | 41 | c.665 others(60): Show |
PHACTR1 | ENSG00000112137.19 | transcript | ENST00000332995.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(34): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 117 | 0.0085 | 41 | c.118 others(60): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(34): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 117 | 0.0085 | 41 | c.118 others(60): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(34): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | 119 | 0.0252 | 41 | c.118 others(60): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHACTR3_chr20_59599540_59852711 | 59635149 | T | TTCTTTCT others(34): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 117 | 0.0085 | 41 | c.118 others(60): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |