regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX1_chr20_21700664_21723481 | 21721452 | T | TATATATA others(35): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(302): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(113): Show | 305 | 400 | 0.7625 | 42 | c.*68 others(53): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2972 | chr20 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721464 | A | ATGTATAT others(35): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0047a0002c0003t0027 | a0001c0001t0047g0054a0002c0003t0027g0036 | 3 | 400 | 0.0075 | 42 | c.*69 others(53): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2984 | chr20 | TogoVar | ||||||
PAX1_chr20_21700664_21723481 | 21721499 | A | ATATGTAA others(35): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | 42 | c.*69 others(53): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3019 | chr20 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136264440 | G | GTGTATAT others(35): Show |
intron_variant | MODIFIER | HG01069.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145a0001c0001t0001g0197 | 2 | 300 | 0.0067 | 42 | c.543 others(59): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCCB_chr3_136245340_136335169 | 136264440 | G | GTGTGTAT others(35): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 300 | 0.0033 | 42 | c.543 others(59): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(35): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01255.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0042a0001c0001t0001g0135a0001c0001t0002g0062others(4): Show | 7 | 154 | 0.0455 | 42 | c.314 others(63): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53888302 | A | ATATGTAT others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp1 HG03041.hp1 others(1): Show |
a0003a0005 | a0003c0003a0005c0005 | a0003c0003t0004a0003c0003t0009a0005c0005t0009 | a0003c0003t0004g0005a0003c0003t0004g0088a0003c0003t0009g0018others(1): Show | 4 | 102 | 0.0392 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888306 | A | ACATATAT others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 102 | 0.0098 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888318 | G | GTATATGT others(35): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01934.hp2 others(12): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0042a0002c0002others(9): Show | a0001c0001t0002a0001c0042t0016a0002c0002t0002others(11): Show | a0001c0001t0002g0070a0001c0042t0016g0002a0002c0002t0002g0037others(12): Show | 15 | 102 | 0.1471 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54167803 | T | TGTCCCAA others(35): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 NA19240.hp2 |
a0002a0003a0021 | a0002c0021a0003c0003a0021c0026 | a0002c0021t0021a0003c0003t0004a0021c0026t0008 | a0002c0021t0021g0047a0003c0003t0004g0005a0021c0026t0008g0081 | 3 | 102 | 0.0294 | 42 | c.159 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 13/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54271989 | T | TATATATG others(35): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03942.hp2 NA20905.hp2 |
a0003a0006a0030 | a0003c0003a0006c0006a0030c0036 | a0003c0003t0002a0006c0006t0005a0030c0036t0004 | a0003c0003t0002g0020a0006c0006t0005g0055a0030c0036t0004g0061 | 3 | 102 | 0.0294 | 42 | c.877 others(61): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888302 | A | ATATGTAT others(35): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02145.hp2 HG03041.hp2 others(1): Show |
a0003a0005 | a0003c0003a0003c0025a0005c0036 | a0003c0003t0002a0003c0025t0001a0005c0036t0001 | a0003c0003t0002g0005a0003c0003t0002g0080a0003c0025t0001g0018others(1): Show | 4 | 94 | 0.0426 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888306 | A | ACATATAT others(35): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 94 | 0.0106 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888318 | G | GTATATGT others(35): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01934.hp2 others(11): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0002c0006others(10): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(10): Show | a0001c0001t0001g0064a0002c0002t0001g0034a0002c0006t0001g0016others(11): Show | 14 | 94 | 0.1489 | 42 | c.350 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54167803 | T | TGTCCCAA others(35): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03225.hp2 NA19240.hp2 |
a0003a0017a0030 | a0003c0003a0017c0033a0030c0028 | a0003c0003t0002a0017c0033t0001a0030c0028t0001 | a0003c0003t0002g0005a0017c0033t0001g0073a0030c0028t0001g0044 | 3 | 94 | 0.0319 | 42 | c.159 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 13/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54271989 | T | TATATATG others(35): Show |
intron_variant | MODIFIER | HG03540.hp2 HG03942.hp2 NA20905.hp1 |
a0003a0006a0025 | a0003c0005a0006c0008a0025c0041 | a0003c0005t0001a0006c0008t0001a0025c0041t0002 | a0003c0005t0001g0020a0006c0008t0001g0053a0025c0041t0002g0057 | 3 | 94 | 0.0319 | 42 | c.877 others(61): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54697655 | A | AGGAAGGA others(35): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0070 | 1 | 94 | 0.0106 | 42 | c.-28 others(61): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66759710 | T | TATAACAG others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00642.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0053others(23): Show | 26 | 80 | 0.3250 | 42 | c.313 others(65): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
PCDHA10_chr5_140850897_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0007 | a0003c0003t0001g0037a0003c0003t0007g0035a0003c0003t0007g0036 | 3 | 260 | 0.0115 | 42 | c.238 others(61): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0011a0003c0003t0001 | a0001c0001t0011g0088a0001c0001t0011g0090a0003c0003t0001g0192 | 3 | 200 | 0.0150 | 42 | c.239 others(63): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp1 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0007a0004c0005t0001 | a0001c0001t0007g0109a0001c0001t0007g0112a0004c0005t0001g0067 | 3 | 202 | 0.0149 | 42 | c.238 others(63): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0008a0003c0004t0001 | a0001c0001t0008g0089a0001c0001t0008g0095a0003c0004t0001g0205 | 3 | 208 | 0.0144 | 42 | c.239 others(63): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 HG03486.hp2 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0009a0004c0004t0001 | a0003c0003t0009g0008a0003c0003t0009g0111a0004c0004t0001g0108 | 3 | 212 | 0.0142 | 42 | c.238 others(63): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03486.hp2 |
a0003a0008 | a0003c0004a0008c0010 | a0003c0004t0003a0008c0010t0011 | a0003c0004t0003g0109a0008c0010t0011g0050a0008c0010t0011g0051 | 3 | 220 | 0.0136 | 42 | c.235 others(63): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03486.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0007a0003c0004t0001 | a0002c0003t0007g0003a0002c0003t0007g0011a0003c0004t0001g0122 | 3 | 236 | 0.0127 | 42 | c.239 others(63): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp1 |
a0001a0004 | a0001c0004a0004c0005 | a0001c0004t0001a0004c0005t0007 | a0001c0004t0001g0129a0004c0005t0007g0111a0004c0005t0007g0112 | 3 | 248 | 0.0121 | 42 | c.235 others(63): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp1 |
a0003a0008 | a0003c0003a0008c0013 | a0003c0003t0006a0008c0013t0008 | a0003c0003t0006g0022a0003c0003t0006g0023a0008c0013t0008g0167 | 3 | 258 | 0.0116 | 42 | c.239 others(63): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140862867 | C | CAGGTATT others(35): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03486.hp2 |
a0001a0003 | a0001c0005a0003c0004 | a0001c0005t0001a0003c0004t0007 | a0001c0005t0001g0044a0003c0004t0007g0125a0003c0004t0007g0126 | 3 | 256 | 0.0117 | 42 | c.239 others(63): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCED1A_chr20_2830314_2845655 | 2842890 | A | ATAGATAG others(35): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 HG02895.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 3 | 436 | 0.0069 | 42 | c.-27 others(53): Show |
PCED1A | ENSG00000132635.17 | transcript | ENST00000360652.7 | protein_coding | 2236 | chr20 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 725501 | C | CGGGCTCT others(35): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(175): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0156a0001c0001t0002g0146a0001c0001t0002g0148others(175): Show | 178 | 366 | 0.4863 | 42 | c.-18 others(61): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 725521 | C | CGTGGGCT others(35): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0026a0001c0001t0014g0027 | 2 | 366 | 0.0055 | 42 | c.-18 others(61): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 725576 | A | AGGCTGCT others(35): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01257.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0018 | a0001c0001t0001g0195a0001c0001t0001g0232a0001c0001t0001g0233others(6): Show | 9 | 366 | 0.0246 | 42 | c.-18 others(61): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 725678 | C | CGCTGTGG others(35): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0002g0013a0001c0001t0003g0020others(23): Show | 26 | 366 | 0.0710 | 42 | c.-18 others(61): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 732299 | A | ACCTCCCT others(35): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0129 | 1 | 366 | 0.0027 | 42 | c.-10 others(59): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 732349 | C | CCCTTCCC others(35): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 366 | 0.0027 | 42 | c.-10 others(59): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCID2_chr13_113172536_113213669 | 113187068 | A | ATGACCTC others(35): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 414 | 0.0024 | 42 | c.468 others(59): Show |
PCID2 | ENSG00000126226.22 | transcript | ENST00000337344.9 | protein_coding | 7/13 | chr13 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83096860 | A | AATATATT others(35): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0006 | a0006c0044 | a0006c0044t0016 | a0006c0044t0016g0038 | 1 | 188 | 0.0053 | 42 | c.330 others(63): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910037 | T | TCCTCCTC others(35): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0008 | 1 | 352 | 0.0028 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910049 | T | TCCTCCTC others(35): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0245 | 1 | 352 | 0.0028 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910055 | T | TCCTCCCC others(35): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01515.hp1 HG02523.hp1 others(14): Show |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(7): Show | a0001c0001t0001g0182a0001c0001t0001g0183a0001c0001t0001g0203others(14): Show | 17 | 352 | 0.0483 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910064 | C | CCCTCCTC others(35): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0006 | 1 | 352 | 0.0028 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910070 | T | TCCCCCTC others(35): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0163 | 1 | 352 | 0.0028 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910118 | T | TCCTCCTC others(35): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0197a0001c0001t0004g0196 | 2 | 352 | 0.0057 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910145 | C | CCCTCCTC others(35): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 352 | 0.0028 | 42 | c.153 others(59): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | HG01928.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0309a0001c0001t0003g0050 | 2 | 460 | 0.0044 | 42 | c.153 others(61): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | NA18977.hp1 NA18977.hp2 NA18988.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0354a0001c0001t0003g0046a0001c0001t0003g0053others(1): Show | 4 | 460 | 0.0087 | 42 | c.153 others(61): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(35): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0004 | a0004c0013 | a0004c0013t0004 | a0004c0013t0004g0422 | 1 | 460 | 0.0022 | 42 | c.153 others(61): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCYOX1L_chr5_149353046_149374653 | 149370033 | T | TTTTTTTT others(35): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 NA18944.hp1 NA19011.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0009 | 4 | 372 | 0.0108 | 42 | c.*13 others(53): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 381 | chr5 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAA others(35): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0122 | 2 | 260 | 0.0077 | 42 | c.117 others(59): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAATA others(35): Show |
intron_variant | MODIFIER | HG02027.hp1 NA18951.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0024others(1): Show | a0001c0001t0001g0119a0001c0001t0011g0120a0001c0001t0024g0103others(1): Show | 4 | 260 | 0.0154 | 42 | c.117 others(59): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar |