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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PASD1_chrX_151558675_151681739 | 151562858 | GGGGGGGC | G | upstream_gene_variant | MODIFIER | HG02698.hp1 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077a0001c0001t0001g0088 | 2 | 221 | 0.0091 | -7 | c.-10 others(18): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 816 | chrX | TogoVar | ||||||
PASD1_chrX_151558675_151681739 | 151565558 | CTTTTTTT | C | intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 221 | 0.0045 | -7 | c.-28 others(24): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151581227 | CAAAAAAA | C | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0006t0004 | a0001c0002t0002g0195a0001c0006t0004g0196 | 2 | 221 | 0.0091 | -7 | c.-28 others(26): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151606179 | GTTCTTTA | G | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(21): Show | a0001c0001t0001g0003a0001c0001t0001g0014a0001c0001t0001g0017others(66): Show | 69 | 221 | 0.3122 | -7 | c.117 others(24): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PASD1_chrX_151558675_151681739 | 151669534 | TTCATCCC | T | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(1): Show | a0001c0002t0002g0004a0001c0002t0002g0172a0001c0002t0002g0180others(4): Show | 7 | 221 | 0.0317 | -7 | c.107 others(26): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 11/15 | chrX | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241113999 | TTAGAGTA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(68): Show |
a0003a0004a0005others(6): Show | a0003c0003a0003c0008a0004c0036others(9): Show | a0003c0003t0002a0003c0008t0001a0004c0036t0001others(10): Show | a0003c0003t0002g0002a0003c0003t0002g0046a0003c0003t0002g0051others(60): Show | 71 | 376 | 0.1888 | -7 | c.333 others(26): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 14/17 | chr2 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241125137 | AAAAAAAC | A | intron_variant | MODIFIER | HG01099.hp2 HG01884.hp2 HG02109.hp1 others(10): Show |
a0006a0017 | a0006c0009a0006c0033a0017c0069 | a0006c0009t0003a0006c0009t0016a0006c0033t0009others(1): Show | a0006c0009t0003g0004a0006c0009t0003g0009a0006c0009t0003g0031others(7): Show | 13 | 376 | 0.0346 | -7 | c.272 others(26): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 10/17 | chr2 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241132460 | TGCAATGA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00558.hp2 others(120): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0014a0001c0015others(25): Show | a0001c0002t0001a0001c0002t0002a0001c0014t0002others(33): Show | a0001c0002t0001g0197a0001c0002t0002g0297a0001c0002t0002g0298others(114): Show | 123 | 376 | 0.3271 | -7 | c.146 others(24): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | ||||||
PASK_chr2_241101099_241154472 | 241132527 | TAAAAAAA | T | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00609.hp2 others(40): Show |
a0001a0003a0004others(4): Show | a0001c0014a0001c0015a0001c0017others(6): Show | a0001c0014t0002a0001c0015t0002a0001c0017t0002others(6): Show | a0001c0014t0002g0303a0001c0015t0002g0049a0001c0015t0002g0062others(37): Show | 43 | 376 | 0.1144 | -7 | c.146 others(24): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 9/17 | chr2 | TogoVar | ||||||
PATE1_chr11_125741279_125754867 | 125742827 | CAAAAATA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(419): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0011others(26): Show | 422 | 434 | 0.9724 | -7 | c.-34 others(18): Show |
PATE1 | ENSG00000171053.10 | transcript | ENST00000305738.10 | protein_coding | 3451 | chr11 | TogoVar | ||||||
PATJ_chr1_61737480_62168915 | 61752817 | TTTATATA | T | intron_variant | MODIFIER | HG02280.hp2 HG03486.hp2 |
a0001a0002 | a0001c0022a0002c0020 | a0001c0022t0029a0002c0020t0025 | a0001c0022t0029g0111a0002c0020t0025g0112 | 2 | 158 | 0.0127 | -7 | c.-35 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61777699 | CTTTCTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(36): Show |
a0001a0003a0004others(21): Show | a0001c0008a0001c0093a0003c0009others(30): Show | a0001c0008t0001a0001c0008t0016a0001c0093t0004others(32): Show | a0001c0008t0001g0067a0001c0008t0016g0047a0001c0093t0004g0051others(36): Show | 39 | 158 | 0.2468 | -7 | c.849 others(24): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 7/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61867573 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(83): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0008a0001c0021others(74): Show | a0001c0001t0002a0001c0001t0010a0001c0008t0001others(80): Show | a0001c0001t0002g0076a0001c0001t0010g0014a0001c0008t0001g0067others(83): Show | 86 | 158 | 0.5443 | -7 | c.283 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61871557 | ATTTTTTT | A | intron_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01192.hp2 others(8): Show |
a0001a0006a0007others(8): Show | a0001c0059a0006c0070a0007c0124others(8): Show | a0001c0059t0009a0006c0070t0019a0007c0124t0001others(8): Show | a0001c0059t0009g0045a0006c0070t0019g0025a0007c0124t0001g0003others(8): Show | 11 | 158 | 0.0696 | -7 | c.283 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 20/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 61974401 | CTCTCTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp1 HG02559.hp2 others(2): Show |
a0010a0040a0047 | a0010c0005a0010c0025a0040c0035others(1): Show | a0010c0005t0001a0010c0005t0018a0010c0025t0001others(2): Show | a0010c0005t0001g0129a0010c0005t0018g0107a0010c0025t0001g0140others(2): Show | 5 | 158 | 0.0317 | -7 | c.367 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 27/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62002709 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(22): Show |
a0002a0003a0004others(12): Show | a0002c0020a0002c0049a0002c0061others(21): Show | a0002c0020t0025a0002c0049t0004a0002c0061t0006others(21): Show | a0002c0020t0025g0112a0002c0049t0004g0029a0002c0061t0006g0046others(22): Show | 25 | 158 | 0.1582 | -7 | c.386 others(28): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62027628 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01071.hp1 others(12): Show |
a0001a0003a0008others(7): Show | a0001c0059a0003c0100a0008c0016others(9): Show | a0001c0059t0009a0003c0100t0003a0008c0016t0003others(9): Show | a0001c0059t0009g0045a0003c0100t0003g0008a0008c0016t0003g0005others(12): Show | 15 | 158 | 0.0949 | -7 | c.395 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 29/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62119166 | ATATATCT | A | intron_variant | MODIFIER | HG01081.hp2 HG01934.hp2 HG02602.hp1 others(5): Show |
a0001a0003a0006others(2): Show | a0001c0093a0001c0105a0003c0055others(3): Show | a0001c0093t0004a0001c0105t0006a0003c0055t0004others(4): Show | a0001c0093t0004g0051a0001c0105t0006g0004a0003c0055t0004g0087others(5): Show | 8 | 158 | 0.0506 | -7 | c.489 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 37/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62125247 | AAAAAAAC | A | intron_variant | MODIFIER | HG01074.hp2 HG01192.hp1 HG02145.hp1 others(3): Show |
a0001a0028a0029others(2): Show | a0001c0024a0001c0104a0028c0136others(3): Show | a0001c0024t0001a0001c0104t0014a0028c0136t0013others(3): Show | a0001c0024t0001g0139a0001c0104t0014g0114a0028c0136t0013g0099others(3): Show | 6 | 158 | 0.0380 | -7 | c.504 others(26): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 39/43 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PATJ_chr1_61737480_62168915 | 62161326 | GATTTCTT | G | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG02647.hp1 |
a0001a0007 | a0001c0047a0007c0072 | a0001c0047t0035a0007c0072t0036 | a0001c0047t0035g0126a0007c0072t0036g0042 | 2 | 158 | 0.0127 | -7 | c.*27 others(16): Show |
PATJ | ENSG00000132849.22 | transcript | ENST00000642238.2 | protein_coding | 44/44 | 273 | chr1 | TogoVar | |||||
PAWR_chr12_79579879_79695964 | 79604834 | TAGAAAAC | T | intron_variant | MODIFIER | HG02922.hp2 HG03453.hp1 NA19240.hp2 |
a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0003a0003c0005t0007g0164a0003c0005t0007g0165 | 3 | 256 | 0.0117 | -7 | c.684 others(24): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 4/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79626163 | TAAAAAAA | T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG00639.hp2 others(79): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0005a0002c0002t0012others(7): Show | a0002c0002t0001g0169a0002c0002t0001g0170a0002c0002t0001g0171others(79): Show | 82 | 256 | 0.3203 | -7 | c.517 others(24): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAWR_chr12_79579879_79695964 | 79639874 | CTATTCCT | C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02717.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0007 | a0002c0002t0001g0228a0002c0002t0001g0229a0002c0002t0001g0230others(2): Show | 5 | 256 | 0.0195 | -7 | c.517 others(26): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
PAX2_chr10_100740582_100834944 | 100742843 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0032others(3): Show | a0001c0001t0001g0047a0001c0001t0002g0034a0001c0001t0002g0064others(4): Show | 7 | 232 | 0.0302 | -7 | c.-34 others(18): Show |
PAX2 | ENSG00000075891.24 | transcript | ENST00000355243.8 | protein_coding | 2738 | chr10 | TogoVar | ||||||
PAX5_chr9_36828269_37039268 | 36955779 | AAAAATAT | A | intron_variant | MODIFIER | HG01496.hp2 HG01891.hp1 HG01981.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0002g0164a0001c0001t0003g0075a0001c0001t0007g0240others(14): Show | 17 | 274 | 0.0620 | -7 | c.780 others(26): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
PAXBP1_chr21_32728899_32776755 | 32739937 | TTAAAAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01256.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(21): Show | 35 | 360 | 0.0972 | -7 | c.233 others(26): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 15/17 | chr21 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52571854 | CCCAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01884.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0238a0001c0003t0001g0239a0001c0003t0001g0240others(1): Show | 4 | 300 | 0.0133 | -7 | c.373 others(26): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 24/31 | chr3 | TogoVar | ||||||
PBRM1_chr3_52540367_52690913 | 52583096 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(90): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0009others(1): Show | a0001c0002t0001g0148a0001c0002t0001g0153a0001c0002t0001g0154others(90): Show | 93 | 300 | 0.3100 | -7 | c.343 others(26): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 22/31 | chr3 | TogoVar | ||||||
PBX1_chr1_164554184_164856831 | 164569564 | ATTTTTTT | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG01070.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(4): Show | a0001c0001t0001g0149a0001c0001t0001g0150a0001c0001t0002g0153others(6): Show | 9 | 184 | 0.0489 | -7 | c.265 others(24): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX1_chr1_164554184_164856831 | 164724670 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0016a0001c0001t0005g0059a0001c0001t0006g0005others(3): Show | 6 | 184 | 0.0326 | -7 | c.266 others(26): Show |
PBX1 | ENSG00000185630.20 | transcript | ENST00000420696.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125781535 | AGGGAGAG | A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0001g0133 | 3 | 294 | 0.0102 | -7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125823324 | ATTTAACT | A | intron_variant | MODIFIER | HG01099.hp2 HG01243.hp1 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0004a0001c0001t0005g0005a0001c0001t0005g0006others(13): Show | 16 | 294 | 0.0544 | -7 | c.274 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX3_chr9_125742373_125972377 | 125835015 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01891.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0281a0001c0001t0001g0282a0001c0001t0001g0283others(14): Show | 17 | 294 | 0.0578 | -7 | c.275 others(26): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PBX4_chr19_19556713_19623687 | 19556747 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01109.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005a0001c0001t0001g0014a0001c0001t0001g0016others(21): Show | 24 | 376 | 0.0638 | -7 | c.*52 others(18): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 4965 | chr19 | TogoVar | ||||||
PCARE_chr2_29056695_29079523 | 29062410 | GGTGCCCT | G | 3_prime_UTR_variant | MODIFIER | HG02559.hp1 HG02886.hp1 HG02895.hp1 others(4): Show |
a0008a0012a0019 | a0008c0009a0012c0015a0019c0057 | a0008c0009t0024a0012c0015t0020a0019c0057t0020 | a0008c0009t0024g0033a0012c0015t0020g0034a0019c0057t0020g0135 | 7 | 464 | 0.0151 | -7 | c.*24 others(18): Show |
PCARE | ENSG00000179270.7 | transcript | ENST00000331664.6 | protein_coding | 2/2 | 2452 | chr2 | TogoVar | |||||
PCBP2_chr12_53447102_53486162 | 53470378 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01168.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0034others(30): Show | 35 | 348 | 0.1006 | -7 | c.883 others(24): Show |
PCBP2 | ENSG00000197111.16 | transcript | ENST00000546463.6 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45784420 | CCCTACCT | C | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0172a0001c0001t0001g0189a0001c0001t0003g0108others(7): Show | 10 | 292 | 0.0343 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45814667 | ATGAGTGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0223a0001c0001t0002g0225a0001c0001t0002g0226others(58): Show | 61 | 292 | 0.2089 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45814752 | AGTGAGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG01255.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0116a0001c0001t0004g0117a0001c0001t0017g0097 | 3 | 292 | 0.0103 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45815096 | AGTGAGTG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(268): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(268): Show | 271 | 292 | 0.9281 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45815440 | CAGTGGTG | C | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0223a0001c0001t0002g0225a0001c0001t0002g0226others(61): Show | 64 | 292 | 0.2192 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45815617 | GTGAGTGA | G | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0190a0001c0001t0003g0035a0001c0001t0003g0051others(1): Show | 4 | 292 | 0.0137 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45815813 | AGTGAGTG | A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0175others(1): Show | 4 | 292 | 0.0137 | -7 | c.-12 others(28): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45855442 | GACCCCAC | G | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0009a0001c0001t0019others(1): Show | a0001c0001t0002g0217a0001c0001t0002g0218a0001c0001t0009g0009others(3): Show | 6 | 292 | 0.0206 | -7 | c.10+ others(22): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100201857 | CAAAAAAA | C | intron_variant | MODIFIER | HG02886.hp2 HG02895.hp1 HG02895.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0015others(6): Show | 9 | 174 | 0.0517 | -7 | c.469 others(24): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100325413 | ATGTGAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00738.hp1 others(40): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0027others(40): Show | 43 | 174 | 0.2471 | -7 | c.143 others(26): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 16/23 | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100400623 | TTTAGTTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0053a0001c0001t0001g0067a0001c0001t0001g0083others(7): Show | 10 | 174 | 0.0575 | -7 | c.174 others(28): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100531800 | ATATTTAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(95): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(95): Show | 98 | 174 | 0.5632 | -7 | c.*16 others(18): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 1366 | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136317212 | ATTTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00733.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(24): Show | 27 | 300 | 0.0900 | -7 | c.109 others(24): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 91789200 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0008a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0030others(34): Show | 37 | 154 | 0.2403 | -7 | c.-37 others(26): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar |