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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OPTN_chr10_13095163_13143308 | 13114925 | CTATATTT others(35): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0131 | 1 | 415 | 0.0024 | -42 | c.553 others(59): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR10A6_chr11_7919592_7936268 | 7935590 | CACATGTA others(35): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0190 | a0002c0002t0190g0154 | 1 | 440 | 0.0023 | -42 | c.-63 others(53): Show |
OR10A6 | ENSG00000279000.4 | transcript | ENST00000641238.1 | protein_coding | 4323 | chr11 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | ATATATAT others(35): Show |
A | upstream_gene_variant | MODIFIER | HG02735.hp2 HG03654.hp2 NA18944.hp1 others(7): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0015t0001 | a0001c0001t0001g0003 a0001c0001t0001g0018 a0001c0001t0001g0138 others(6): Show |
10 | 287 | 0.0348 | -42 | c.-15 others(53): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213465 | ATGTATAT others(35): Show |
A | downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0003 | 1 | 408 | 0.0025 | -42 | c.*94 others(53): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 541 | chr1 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213504 | TATTTATA others(35): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(35): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0069a0001c0002t0002others(11): Show | a0001c0001t0004g0001 a0001c0001t0069g0016 a0001c0002t0002g0002 others(14): Show |
38 | 408 | 0.0931 | -42 | c.*94 others(53): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 580 | chr1 | TogoVar | |||||||
OR2T5_chr1_248483589_248496113 | 248495874 | GTCTTCAA others(35): Show |
G | downstream_gene_variant | MODIFIER | NA19002.hp2 | a0002 | a0002c0003 | a0002c0003t0010 | a0002c0003t0010g0000 | 1 | 288 | 0.0035 | -42 | c.*63 others(53): Show |
OR2T5 | ENSG00000203661.4 | transcript | ENST00000641363.1 | protein_coding | 4762 | chr1 | TogoVar | |||||||
OR4D10_chr11_59468315_59484361 | 59482491 | AATATTCC others(35): Show |
A | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | -42 | c.*41 others(53): Show |
OR4D10 | ENSG00000254466.2 | transcript | ENST00000530162.2 | protein_coding | 3131 | chr11 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22084716 | CATATATA others(35): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03130.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 3 | 30 | 0.1000 | -42 | c.*31 others(53): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3107 | chr15 | TogoVar | |||||||
OR4M2_chr15_22075527_22086610 | 22084728 | TATAGATA others(35): Show |
T | downstream_gene_variant | MODIFIER | NA18968.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0000 | 1 | 50 | 0.0200 | -42 | c.*31 others(53): Show |
OR4M2 | ENSG00000274102.3 | transcript | ENST00000614722.3 | protein_coding | 3119 | chr15 | TogoVar | |||||||
OR52E5_chr11_5888208_5907730 | 5904023 | TAATCTTT others(35): Show |
T | downstream_gene_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 462 | 0.0022 | -42 | c.*22 others(53): Show |
OR52E5 | ENSG00000277932.2 | transcript | ENST00000610445.2 | protein_coding | 1294 | chr11 | TogoVar | |||||||
OR5D14_chr11_55790556_55801500 | 55801341 | AACAAAAA others(35): Show |
A | downstream_gene_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 444 | 0.0023 | -42 | c.*48 others(53): Show |
OR5D14 | ENSG00000186113.1 | transcript | ENST00000335605.1 | protein_coding | 4842 | chr11 | TogoVar | |||||||
OR6J1_chr14_22625929_22649352 | 22636365 | CCTCTCCC others(35): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0238 | 1 | 358 | 0.0028 | -42 | c.-27 others(59): Show |
OR6J1 | ENSG00000255804.2 | transcript | ENST00000540461.2 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
OR7A10_chr19_14835466_14853922 | 14849363 | TTTCTTCT others(35): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 60 | 0.0167 | -42 | c.-91 others(51): Show |
OR7A10 | ENSG00000127515.3 | transcript | ENST00000641129.1 | protein_coding | 442 | chr19 | TogoVar | |||||||
OR8D1_chr11_124297831_124318949 | 124309546 | AGAGGACT others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18968.hp2 | a0003 | a0003c0003 | a0003c0003t0045 | a0003c0003t0045g0060 | 1 | 426 | 0.0023 | -42 | c.*25 others(51): Show |
OR8D1 | ENSG00000196341.3 | transcript | ENST00000641015.1 | protein_coding | 3/3 | 252 | chr11 | TogoVar | ||||||
OSBPL10_chr3_31655825_31986262 | 31812776 | AAGAAAGA others(35): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0182 | 1 | 184 | 0.0054 | -42 | c.729 others(61): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 4/11 | chr3 | TogoVar | |||||||
OSTF1_chr9_75083514_75152265 | 75128539 | TATATATT others(35): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01106.hp2 HG01346.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0001t0013g0078 a0001c0001t0013g0079 a0001c0001t0013g0082 others(14): Show |
17 | 364 | 0.0467 | -42 | c.132 others(57): Show |
OSTF1 | ENSG00000134996.12 | transcript | ENST00000346234.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510951 | TATATGTA others(35): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 239 | 0.0042 | -42 | c.894 others(59): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OXCT1_chr5_41725065_41875425 | 41813739 | ATGCCCCA others(35): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 others(1): Show |
4 | 198 | 0.0202 | -42 | c.733 others(59): Show |
OXCT1 | ENSG00000083720.13 | transcript | ENST00000196371.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3680315 | ATCCTCCA others(35): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 183 | 0.0055 | -42 | c.106 others(59): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 10/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685656 | CTCCCAGC others(35): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01515.hp1 HG01515.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0123 a0001c0001t0001g0238 a0001c0001t0001g0240 others(13): Show |
16 | 343 | 0.0466 | -42 | c.981 others(59): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P3H1_chr1_42741374_42772028 | 42750630 | ACCCCGTC others(35): Show |
A | intron_variant | MODIFIER | HG02818.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 404 | 0.0050 | -42 | c.157 others(59): Show |
P3H1 | ENSG00000117385.16 | transcript | ENST00000296388.10 | protein_coding | 10/14 | chr1 | TogoVar | |||||||
PACS1_chr11_66065272_66249744 | 66156204 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 24 | 0.0417 | -42 | c.357 others(61): Show |
PACS1 | ENSG00000175115.13 | transcript | ENST00000320580.9 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PADI4_chr1_17303197_17369004 | 17351994 | TCAGGGAG others(35): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01070.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0021 others(25): Show |
30 | 356 | 0.0843 | -42 | c.115 others(61): Show |
PADI4 | ENSG00000159339.13 | transcript | ENST00000375448.4 | protein_coding | 10/15 | chr1 | TogoVar | |||||||
PAF1_chr19_39380629_39396106 | 39386479 | TACCTGAG others(35): Show |
T | frameshift_variant others(3): Show |
HIGH | NA18979.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0026 | 1 | 366 | 0.0027 | -42 | c.114 others(53): Show |
p.Glu others(5): Show |
PAF1 | ENSG00000006712.15 | transcript | ENST00000221265.8 | protein_coding | 13/14 | 1144/1596 | 382/531 | chr19 | TogoVar | ||||
PAFAH1B2_chr11_117139287_117176045 | 117172376 | ATATATAT others(35): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0093 | 1 | 401 | 0.0025 | -42 | c.*46 others(53): Show |
PAFAH1B2 | ENSG00000168092.14 | transcript | ENST00000527958.6 | protein_coding | 1332 | chr11 | TogoVar | |||||||
PAGE1_chrX_49682447_49700984 | 49690013 | GTGTGTAT others(35): Show |
G | intron_variant | MODIFIER | HG02109.hp1 NA18943.hp1 NA18973.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0103 others(2): Show |
5 | 296 | 0.0169 | -42 | c.293 others(57): Show |
PAGE1 | ENSG00000068985.5 | transcript | ENST00000376150.4 | protein_coding | 4/5 | chrX | TogoVar | |||||||
PAK1_chr11_77317017_77479094 | 77361826 | CTTTTATT others(35): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 300 | 0.0033 | -42 | c.478 others(59): Show |
PAK1 | ENSG00000149269.10 | transcript | ENST00000356341.8 | protein_coding | 5/14 | chr11 | TogoVar | |||||||
PALMD_chr1_99641113_99699535 | 99683046 | AAGAAAGA others(35): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00597.hp1 HG01081.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0020 others(13): Show |
16 | 376 | 0.0426 | -42 | c.252 others(59): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PALM_chr19_703935_753329 | 703936 | GCAGGGGC others(35): Show |
G | upstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0251 | 1 | 402 | 0.0025 | -42 | c.-52 others(53): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 4998 | chr19 | TogoVar | |||||||
PANK3_chr5_168543495_168584368 | 168579714 | TGGCTGTA others(35): Show |
T | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0329 | 1 | 414 | 0.0024 | -42 | c.-47 others(51): Show |
PANK3 | ENSG00000120137.7 | transcript | ENST00000239231.7 | protein_coding | 347 | chr5 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300895 | TCCTTCCT others(35): Show |
T | intron_variant | MODIFIER | HG02004.hp2 NA18973.hp2 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081 a0001c0001t0001g0105 a0001c0001t0002g0115 |
3 | 278 | 0.0108 | -42 | c.-27 others(61): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
PAQR5_chr15_69293912_69412780 | 69300896 | CCTTCCTT others(35): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 a0001c0001t0001g0079 a0001c0001t0001g0091 others(1): Show |
4 | 264 | 0.0152 | -42 | c.-27 others(61): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69322691 | GGAAGAAG others(35): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0250 |
2 | 217 | 0.0092 | -42 | c.-27 others(63): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69382777 | CATATATA others(35): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0245 a0001c0001t0002g0053 a0001c0001t0002g0161 others(62): Show |
65 | 92 | 0.7065 | -42 | c.180 others(59): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34684794 | CACACACA others(35): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02723.hp2 HG03139.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0002a0001c0002t0004others(1): Show | a0001c0001t0006g0030 a0001c0002t0002g0039 a0001c0002t0004g0029 others(3): Show |
6 | 98 | 0.0612 | -42 | c.222 others(61): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARD6G_chr18_80152232_80252514 | 80247370 | CGCCGTCG others(35): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0368 | 1 | 380 | 0.0026 | -42 | c.-64 others(49): Show |
PARD6G | ENSG00000178184.16 | transcript | ENST00000353265.8 | protein_coding | 1/3 | 23 | chr18 | TogoVar | ||||||
PARP12_chr7_140018749_140067951 | 140035996 | GAGGAGAA others(35): Show |
G | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp2 HG02145.hp2 others(11): Show |
a0003a0005a0009 | a0003c0005a0005c0011a0009c0017 | a0003c0005t0003a0003c0005t0004a0005c0011t0003others(1): Show | a0003c0005t0003g0156 a0003c0005t0004g0044 a0003c0005t0004g0274 others(10): Show |
14 | 208 | 0.0673 | -42 | c.132 others(61): Show |
PARP12 | ENSG00000059378.13 | transcript | ENST00000263549.8 | protein_coding | 7/11 | chr7 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613947 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0093 | 1 | 250 | 0.0040 | -42 | c.649 others(57): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613951 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA18999.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0172 | 1 | 238 | 0.0042 | -42 | c.649 others(57): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613953 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 242 | 0.0041 | -42 | c.649 others(57): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79632288 | AATATATA others(35): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0229 | 1 | 236 | 0.0042 | -42 | c.517 others(61): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771859 | TGAGAGAG others(35): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 337 | 0.0030 | -42 | c.-23 others(51): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 105 | chr21 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771907 | AGAGAGAG others(35): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 358 | 0.0056 | -42 | c.-28 others(51): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 153 | chr21 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100440156 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG00408.hp1 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0092 |
2 | 19 | 0.1053 | -42 | c.184 others(61): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 725534 | GGGCTGCT others(35): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0335 | 1 | 364 | 0.0027 | -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 | AGGCTGCT others(35): Show |
A | intron_variant | MODIFIER | NA18945.hp2 NA18984.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 a0001c0001t0007g0304 |
3 | 295 | 0.0102 | -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 | CGCTGTGG others(35): Show |
C | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0226 | 1 | 299 | 0.0033 | -42 | c.-18 others(61): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999631 | ATATTAAA others(35): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01192.hp2 HG02738.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0005a0003c0002others(2): Show | a0001c0004t0007a0002c0005t0028a0003c0002t0001others(2): Show | a0001c0004t0007g0097 a0002c0005t0028g0153 a0003c0002t0001g0083 others(3): Show |
6 | 186 | 0.0323 | -42 | c.330 others(63): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96422916 | TTACAATG others(35): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0020a0001c0001t0026a0001c0002t0010others(4): Show | a0001c0001t0020g0116 a0001c0001t0026g0296 a0001c0002t0010g0293 others(8): Show |
11 | 390 | 0.0282 | -42 | c.543 others(57): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76040343 | CTCTCTCT others(35): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0016 | a0016c0025 | a0016c0025t0005 | a0016c0025t0005g0033 | 1 | 164 | 0.0061 | -42 | c.632 others(61): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |