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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PAX1_chr20_21700664_21723481 | 21721499 | A | ATATGTAA others(35): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 398 | 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 | a0001c0001t0001g0145 a0001c0001t0001g0196 |
2 | 235 | 0.0085 | 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 | 234 | 0.0043 | 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 | a0001c0001t0001g0043 a0001c0001t0001g0115 a0001c0001t0002g0061 others(4): Show |
7 | 68 | 0.1029 | 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 | a0003c0003t0004g0005 a0003c0003t0004g0087 a0003c0003t0009g0016 others(1): Show |
4 | 100 | 0.0400 | 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 | 88 | 0.0114 | 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 | a0001c0001t0002g0068 a0001c0042t0016g0002 a0002c0002t0002g0036 others(12): Show |
15 | 47 | 0.3191 | 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 |
a0002a0003a0029 | a0002c0021a0003c0003a0029c0026 | a0002c0021t0021a0003c0003t0004a0029c0026t0008 | a0002c0021t0021g0047 a0003c0003t0004g0005 a0029c0026t0008g0082 |
3 | 100 | 0.0300 | 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 |
a0003a0006a0032 | a0003c0003a0006c0006a0032c0036 | a0003c0003t0002a0006c0006t0005a0032c0036t0004 | a0003c0003t0002g0020 a0006c0006t0005g0059 a0032c0036t0004g0061 |
3 | 100 | 0.0300 | 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 | a0003c0003a0003c0024a0005c0035 | a0003c0003t0002a0003c0024t0001a0005c0035t0001 | a0003c0003t0002g0005 a0003c0003t0002g0079 a0003c0024t0001g0016 others(1): Show |
4 | 92 | 0.0435 | 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 | 80 | 0.0125 | 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 | a0001c0001t0001g0063 a0002c0002t0001g0033 a0002c0006t0001g0015 others(11): Show |
14 | 41 | 0.3415 | 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 |
a0003a0015a0022 | a0003c0003a0015c0027a0022c0032 | a0003c0003t0002a0015c0027t0001a0022c0032t0001 | a0003c0003t0002g0005 a0015c0027t0001g0044 a0022c0032t0001g0074 |
3 | 92 | 0.0326 | 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 |
a0003a0006a0026 | a0003c0005a0006c0008a0026c0040 | a0003c0005t0001a0006c0008t0001a0026c0040t0002 | a0003c0005t0001g0020 a0006c0008t0001g0055 a0026c0040t0002g0057 |
3 | 92 | 0.0326 | 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 | 82 | 0.0122 | 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 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(23): Show |
26 | 77 | 0.3377 | 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 | a0003c0003t0001g0036 a0003c0003t0007g0034 a0003c0003t0007g0035 |
3 | 258 | 0.0116 | 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 | a0001c0001t0011g0088 a0001c0001t0011g0090 a0003c0003t0001g0191 |
3 | 198 | 0.0152 | 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 | a0001c0001t0007g0109 a0001c0001t0007g0112 a0004c0005t0001g0067 |
3 | 200 | 0.0150 | 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 | a0001c0001t0008g0089 a0001c0001t0008g0095 a0003c0004t0001g0204 |
3 | 206 | 0.0146 | 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 | a0003c0003t0009g0008 a0003c0003t0009g0111 a0004c0004t0001g0108 |
3 | 210 | 0.0143 | 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 |
a0003a0009 | a0003c0004a0009c0010 | a0003c0004t0003a0009c0010t0011 | a0003c0004t0003g0073 a0009c0010t0011g0048 a0009c0010t0011g0049 |
3 | 218 | 0.0138 | 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 | a0002c0004a0003c0003 | a0002c0004t0001a0003c0003t0007 | a0002c0004t0001g0121 a0003c0003t0007g0004 a0003c0003t0007g0012 |
3 | 234 | 0.0128 | 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 |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0007 | a0001c0003t0001g0129 a0003c0004t0007g0144 a0003c0004t0007g0145 |
3 | 246 | 0.0122 | 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 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008 | a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0008g0039 |
3 | 256 | 0.0117 | 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 | a0001c0005t0001g0045 a0003c0004t0007g0126 a0003c0004t0007g0127 |
3 | 254 | 0.0118 | 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 | 425 | 0.0071 | 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 | a0001c0001t0001g0158 a0001c0001t0002g0148 a0001c0001t0002g0149 others(174): Show |
178 | 363 | 0.4904 | 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 | a0001c0001t0014g0062 a0001c0001t0014g0063 |
2 | 362 | 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 | a0001c0001t0001g0211 a0001c0001t0001g0235 a0001c0001t0001g0236 others(6): Show |
9 | 301 | 0.0299 | 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(12): Show | a0001c0001t0001g0011 a0001c0001t0002g0047 a0001c0001t0003g0028 others(23): Show |
26 | 324 | 0.0802 | 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 | a0001c0003t0010g0130 | 1 | 341 | 0.0029 | 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 | a0001c0001t0003g0016 | 1 | 299 | 0.0033 | 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 | a0001c0001t0002g0136 | 1 | 412 | 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 | a0005 | a0005c0044 | a0005c0044t0016 | a0005c0044t0016g0038 | 1 | 126 | 0.0079 | 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 | 349 | 0.0029 | 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 | 301 | 0.0033 | 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 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0201 others(14): Show |
17 | 330 | 0.0515 | 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 | 257 | 0.0039 | 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 | 339 | 0.0029 | 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 | a0001c0001t0001g0197 a0001c0001t0004g0196 |
2 | 299 | 0.0067 | 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 | a0001c0001t0002g0035 | 1 | 312 | 0.0032 | 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 | a0001c0001t0002g0307 a0001c0001t0003g0053 |
2 | 168 | 0.0119 | 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 | a0001c0001t0002g0348 a0001c0001t0003g0050 a0001c0001t0003g0057 others(1): Show |
4 | 170 | 0.0235 | 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 | a0004c0013t0004g0416 | 1 | 167 | 0.0060 | 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 | a0001c0001t0002g0001 a0001c0001t0002g0009 |
4 | 275 | 0.0145 | 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 | a0001c0001t0001g0008 a0001c0001t0001g0117 |
2 | 120 | 0.0167 | 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 | a0001c0001t0001a0001c0001t0012a0001c0001t0025others(1): Show | a0001c0001t0001g0114 a0001c0001t0012g0115 a0001c0001t0025g0098 others(1): Show |
4 | 122 | 0.0328 | 42 | c.117 others(59): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66873521 | T | TATATTAT others(35): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 2 | 0.5000 | 42 | c.1-1 others(55): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66903810 | C | CCACACAC others(35): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03098.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0258 a0001c0001t0001g0259 |
3 | 265 | 0.0113 | 42 | c.1-3 others(57): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar |