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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NRSN1_chr6_24121215_24152530 | 24150886 | A | AGAAAGAA others(44): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 406 | 0.0025 | 51 | c.*49 others(62): Show |
NRSN1 | ENSG00000152954.12 | transcript | ENST00000378491.9 | protein_coding | 3357 | chr6 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50334190 | C | CACATTTT others(44): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02970.hp2 HG03209.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0048 | a0001c0001t0001g0036a0001c0001t0003g0020a0001c0002t0048g0109 | 3 | 116 | 0.0259 | 51 | c.336 others(72): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 17/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0091 | 1 | 116 | 0.0086 | 51 | c.833 others(70): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NRXN1_chr2_49913503_51037132 | 50683646 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG01175.hp2 NA18959.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0057a0003c0007t0060 | a0001c0001t0057g0038a0003c0007t0060g0113 | 2 | 116 | 0.0172 | 51 | c.833 others(70): Show |
NRXN1 | ENSG00000179915.25 | transcript | ENST00000401669.7 | protein_coding | 5/22 | chr2 | TogoVar | ||||||
NTN5_chr19_48656407_48678017 | 48669546 | C | CCACCATC others(44): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 412 | 0.0024 | 51 | c.631 others(66): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
NTS_chr12_85869295_85887992 | 85879461 | A | ATGTATAT others(44): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 420 | 0.0024 | 51 | c.360 others(66): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NTS_chr12_85869295_85887992 | 85879587 | A | ATGTATAT others(44): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0052a0001c0001t0001g0054others(3): Show | 7 | 420 | 0.0167 | 51 | c.360 others(68): Show |
NTS | ENSG00000133636.11 | transcript | ENST00000256010.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NUP93_chr16_56725129_56855286 | 56740127 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(25): Show |
a0001a0003 | a0001c0004a0001c0009a0003c0024 | a0001c0004t0005a0001c0004t0015a0001c0004t0024others(2): Show | a0001c0004t0005g0021a0001c0004t0005g0022a0001c0004t0005g0023others(25): Show | 28 | 378 | 0.0741 | 51 | c.-14 others(68): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16761358 | T | TTCTTTCT others(44): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0016 | a0016c0019 | a0016c0019t0016 | a0016c0019t0016g0003a0016c0019t0016g0004 | 2 | 300 | 0.0067 | 51 | c.197 others(68): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 7/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NXPH2_chr2_138664157_138785390 | 138767103 | T | TAAACTGG others(44): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 350 | 0.0029 | 51 | c.51+ others(68): Show |
NXPH2 | ENSG00000144227.5 | transcript | ENST00000272641.4 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27967877 | A | ATCATTGG others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00558.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0012others(20): Show | 23 | 110 | 0.2091 | 51 | c.150 others(70): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 14/23 | chr15 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27968068 | A | ATAAGTCA others(44): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG03831.hp1 others(1): Show |
a0001a0004a0008 | a0001c0030a0004c0017a0008c0044 | a0001c0030t0001a0004c0017t0001a0008c0044t0001 | a0001c0030t0001g0001a0004c0017t0001g0104a0004c0017t0001g0109others(1): Show | 4 | 110 | 0.0364 | 51 | c.150 others(70): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 14/23 | chr15 | TogoVar | ||||||
ODF3_chr11_191761_205258 | 196267 | T | TTGGTGAG others(44): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG00735.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0007a0001c0001t0002g0023 | 10 | 388 | 0.0258 | 51 | c.-78 others(60): Show |
ODF3 | ENSG00000177947.15 | transcript | ENST00000325113.9 | protein_coding | 493 | chr11 | TogoVar | ||||||
OMA1_chr1_58475719_58551726 | 58518272 | G | GGGGAGAG others(44): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 384 | 0.0026 | 51 | c.121 others(70): Show |
OMA1 | ENSG00000162600.12 | transcript | ENST00000371226.8 | protein_coding | 7/8 | chr1 | TogoVar | ||||||
OMP_chr11_77097840_77108331 | 77098582 | C | CGGCTGGC others(44): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG03831.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 3 | 440 | 0.0068 | 51 | c.-42 others(62): Show |
OMP | ENSG00000254550.1 | transcript | ENST00000529803.1 | protein_coding | 4257 | chr11 | TogoVar | ||||||
ONECUT3_chr19_1748506_1785988 | 1769010 | G | GTGGAGGT others(44): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01081.hp1 HG01109.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0216a0001c0001t0217others(6): Show | a0001c0001t0037g0006a0001c0001t0216g0061a0001c0001t0217g0051others(6): Show | 10 | 370 | 0.0270 | 51 | c.119 others(70): Show |
ONECUT3 | ENSG00000205922.5 | transcript | ENST00000382349.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
OPCML_chr11_132409981_133537501 | 133140895 | A | AGAAGACG others(44): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0045a0001c0001t0007g0029 | 2 | 68 | 0.0294 | 51 | c.62- others(70): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
OR10G3_chr14_21563520_21585076 | 21582120 | T | TTGTGCTT others(44): Show |
upstream_gene_variant | MODIFIER | NA19001.hp1 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0226 | 1 | 442 | 0.0023 | 51 | c.-23 others(62): Show |
OR10G3 | ENSG00000169208.3 | transcript | ENST00000641040.1 | protein_coding | 2045 | chr14 | TogoVar | ||||||
OR11H2_chr14_19707936_19718883 | 19718094 | A | AATTTAGA others(44): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0005 | a0005c0005 | a0005c0005t0000 | a0005c0005t0000g0000 | 1 | 238 | 0.0042 | 51 | c.-42 others(62): Show |
OR11H2 | ENSG00000258453.4 | transcript | ENST00000556246.3 | protein_coding | 4212 | chr14 | TogoVar | ||||||
OR13D1_chr9_104689518_104700462 | 104696103 | A | AAAGAAAG others(44): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 396 | 0.0051 | 51 | c.*64 others(60): Show |
OR13D1 | ENSG00000179055.8 | transcript | ENST00000641530.1 | protein_coding | 642 | chr9 | TogoVar | ||||||
OR1E1_chr17_3392104_3403410 | 3399258 | G | GAAGGAAG others(44): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 380 | 0.0026 | 51 | c.-84 others(60): Show |
OR1E1 | ENSG00000180016.2 | transcript | ENST00000322608.2 | protein_coding | 849 | chr17 | TogoVar | ||||||
OR2T12_chr1_248285139_248308424 | 248306539 | G | GCCTGAGG others(44): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0014 | a0014c0029 | a0014c0029t0010 | a0014c0029t0010g0062 | 1 | 406 | 0.0025 | 51 | c.-33 others(62): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3116 | chr1 | TogoVar | ||||||
OR56A4_chr11_5994445_6011946 | 6005175 | A | AGGGGGGG others(44): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0144 | 1 | 470 | 0.0021 | 51 | c.-37 others(68): Show |
OR56A4 | ENSG00000183389.5 | transcript | ENST00000641156.1 | protein_coding | 2/2 | chr11 | TogoVar | ||||||
OR8G1_chr11_124236095_124259364 | 124258736 | T | TGCTGACC others(44): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0006 | 1 | 430 | 0.0023 | 51 | c.*81 others(62): Show |
OR8G1 | ENSG00000197849.7 | transcript | ENST00000641972.1 | protein_coding | 4373 | chr11 | TogoVar | ||||||
OR8G5_chr11_124251376_124271224 | 124258736 | T | TGCTGACC others(44): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 432 | 0.0023 | 51 | c.-15 others(68): Show |
OR8G5 | ENSG00000255298.5 | transcript | ENST00000641992.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
OSBPL10_chr3_31655825_31986262 | 31965525 | T | TTATATTA others(44): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01261.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0117a0001c0002t0001g0135a0002c0003t0001g0101others(2): Show | 5 | 186 | 0.0269 | 51 | c.281 others(70): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | ||||||
OSBPL3_chr7_24791540_24985178 | 24917446 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 326 | 0.0031 | 51 | c.-14 others(72): Show |
OSBPL3 | ENSG00000070882.13 | transcript | ENST00000313367.7 | protein_coding | 1/22 | chr7 | TogoVar | ||||||
OSGIN1_chr16_83948240_83971332 | 83951920 | T | TTCCCTCC others(44): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0237 | 1 | 350 | 0.0029 | 51 | c.-14 others(62): Show |
OSGIN1 | ENSG00000140961.14 | transcript | ENST00000393306.6 | protein_coding | 1319 | chr16 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130816 | A | AAAAGAAA others(44): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG02132.hp1 HG03704.hp2 others(4): Show |
a0004a0007 | a0004c0003a0007c0008a0007c0015 | a0004c0003t0004a0007c0008t0001a0007c0015t0001 | a0004c0003t0004g0219a0004c0003t0004g0221a0004c0003t0004g0226others(4): Show | 7 | 366 | 0.0191 | 51 | c.-21 others(62): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2059 | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121130843 | A | AGAAAGAA others(44): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00741.hp1 HG01071.hp1 others(30): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0004others(8): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(9): Show | a0001c0001t0001g0091a0001c0001t0001g0096a0001c0001t0001g0110others(30): Show | 33 | 366 | 0.0902 | 51 | c.-21 others(62): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 2032 | chr12 | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGAGGGG others(44): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0158 | 1 | 426 | 0.0024 | 51 | c.904 others(66): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0031a0001c0001t0040others(1): Show | a0001c0001t0011g0250a0001c0001t0011g0258a0001c0001t0011g0304others(4): Show | 7 | 426 | 0.0164 | 51 | c.904 others(66): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 426 | 0.0024 | 51 | c.904 others(66): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
P4HA2_chr5_132185147_132232853 | 132208421 | G | GGGGGAGG others(44): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0089a0001c0001t0019g0070a0001c0001t0019g0071 | 3 | 426 | 0.0070 | 51 | c.904 others(66): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17352036 | G | GAGGTGGT others(44): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0251 | 1 | 372 | 0.0027 | 51 | c.115 others(70): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PALLD_chr4_168492052_168933441 | 168709633 | A | AGGGAGGG others(44): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 156 | 0.0064 | 51 | c.162 others(68): Show |
PALLD | ENSG00000129116.20 | transcript | ENST00000505667.6 | protein_coding | 9/21 | chr4 | TogoVar | ||||||
PALM2AKAP2_chr9_109775198_110177512 | 110135164 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 222 | 0.0045 | 51 | c.583 others(66): Show |
PALM2AKAP2 | ENSG00000157654.19 | transcript | ENST00000374530.8 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322790 | G | GGGAGAAG others(44): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 284 | 0.0035 | 51 | c.-27 others(72): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PAQR5_chr15_69293912_69412780 | 69322832 | A | AGAAGAAG others(44): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0098 | 2 | 284 | 0.0070 | 51 | c.-27 others(72): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PARVB_chr22_44019302_44177939 | 44066780 | T | TCTTCTCC others(44): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 332 | 0.0030 | 51 | c.113 others(70): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PAX1_chr20_21700664_21723481 | 21721292 | A | AATATATA others(44): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 400 | 0.0025 | 51 | c.*67 others(62): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 2812 | chr20 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45739331 | T | TCCCATCT others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(196): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0011others(196): Show | 199 | 292 | 0.6815 | 51 | c.-16 others(70): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(44): Show |
intron_variant | MODIFIER | HG02818.hp1 NA19004.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0002c0004t0009 | a0001c0001t0005g0021a0002c0004t0009g0035 | 2 | 154 | 0.0130 | 51 | c.314 others(72): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(44): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 115 | 0.0087 | 51 | c.285 others(74): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 424 | 0.0024 | 51 | c.354 others(68): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 424 | 0.0024 | 51 | c.354 others(68): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PCNP_chr3_101569180_101599465 | 101586571 | T | TGTGTGTG others(44): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0083 | 2 | 424 | 0.0047 | 51 | c.354 others(68): 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(44): Show |
intron_variant | MODIFIER | NA18980.hp2 NA19004.hp1 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0037 | 4 | 424 | 0.0094 | 51 | c.354 others(68): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910118 | T | TCCTCCTC others(44): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 352 | 0.0028 | 51 | c.153 others(68): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351447 | G | GAAAGGAA others(44): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0011 | a0011c0007 | a0011c0007t0008 | a0011c0007t0008g0006 | 1 | 166 | 0.0060 | 51 | c.506 others(68): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | chr9 | TogoVar |