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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0419 a0001c0001t0021g0125 |
2 | 460 | 0.0044 | 26 | c.153 others(45): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24637509 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0165 | 1 | 260 | 0.0039 | 26 | c.117 others(43): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24648449 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0187 | 1 | 260 | 0.0039 | 26 | c.-13 others(37): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1103 | chrX | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66880773 | G | GGTCCCAT others(19): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 274 | 0.0037 | 26 | c.1-8 others(39): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PC_chr11_66843420_66963383 | 66903791 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01109.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0258 a0001c0001t0001g0259 |
2 | 274 | 0.0073 | 26 | c.1-3 others(41): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | |||||||
PDCD6_chr5_266646_319974 | 283452 | A | ACCCCCCC others(19): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0301 | 1 | 360 | 0.0028 | 26 | c.163 others(45): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDC_chr1_186438566_186466114 | 186455998 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0072 |
3 | 404 | 0.0074 | 26 | c.-25 others(43): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165406228 | A | ATATGTGT others(19): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 222 | 0.0045 | 26 | c.207 others(45): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 13/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165434266 | C | CCTTCCTT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01106.hp1 others(18): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0142 a0001c0001t0001g0171 a0001c0001t0002g0109 others(18): Show |
21 | 222 | 0.0946 | 26 | c.133 others(43): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 6/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165654518 | A | AAGGTTTC others(19): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02451.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0200 others(14): Show |
17 | 222 | 0.0766 | 26 | c.865 others(43): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177631616 | C | CATATATG others(19): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0063 | a0001c0001t0023g0088 a0001c0001t0063g0089 |
2 | 170 | 0.0118 | 26 | c.264 others(45): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177819860 | T | TTCTCTTT others(19): Show |
intron_variant | MODIFIER | HG02897.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0025 | a0001c0001t0010g0061 a0001c0001t0025g0105 |
2 | 170 | 0.0118 | 26 | c.157 others(43): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 7/19 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182242926 | C | CTCTCGTG others(19): Show |
intron_variant | MODIFIER | HG02683.hp2 HG02922.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0050 | a0001c0001t0002g0044 a0001c0001t0011g0260 a0001c0001t0050g0264 |
3 | 264 | 0.0114 | 26 | c.168 others(43): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182242926 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0134 a0001c0001t0001g0172 a0001c0001t0001g0173 others(28): Show |
31 | 264 | 0.1174 | 26 | c.168 others(43): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182242926 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 264 | 0.0038 | 26 | c.168 others(43): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182242943 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0096 | 1 | 264 | 0.0038 | 26 | c.168 others(43): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG03540.hp1 HG03579.hp1 NA18942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0029others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0162 a0001c0001t0001g0195 others(3): Show |
6 | 264 | 0.0227 | 26 | c.54- others(39): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
PDE1B_chr12_54544601_54584239 | 54573870 | A | AGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0337 | 1 | 430 | 0.0023 | 26 | c.106 others(43): Show |
PDE1B | ENSG00000123360.12 | transcript | ENST00000243052.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31875793 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0140 | 1 | 262 | 0.0038 | 26 | c.492 others(43): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
PDE3A_chr12_20363537_20693583 | 20386102 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(45): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0114 others(45): Show |
48 | 198 | 0.2424 | 26 | c.960 others(45): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14725329 | T | TTCTTTCT others(19): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0010 | a0007c0010t0005 | a0007c0010t0005g0329 | 1 | 332 | 0.0030 | 26 | c.979 others(45): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG01934.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0102 a0001c0001t0001g0243 a0001c0001t0001g0245 others(8): Show |
11 | 332 | 0.0331 | 26 | c.979 others(45): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14749910 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(3): Show |
6 | 332 | 0.0181 | 26 | c.979 others(45): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 65825705 | C | CCTATCTA others(19): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0033 | 1 | 118 | 0.0085 | 26 | c.-71 others(45): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090621 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010 | a0001c0001t0008g0070 a0001c0001t0010g0043 |
2 | 118 | 0.0170 | 26 | c.282 others(47): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090621 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 118 | 0.0085 | 26 | c.282 others(47): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090621 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 118 | 0.0085 | 26 | c.282 others(47): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4B_chr1_65787895_66379574 | 66090621 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 118 | 0.0085 | 26 | c.282 others(47): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59762349 | C | CGTATATG others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02647.hp2 HG02698.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0049 a0001c0001t0002g0060 a0001c0001t0005g0050 others(1): Show |
4 | 74 | 0.0541 | 26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762350 | A | ATATATGT others(19): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02698.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0021 | a0001c0001t0001g0055 a0001c0001t0009g0070 a0001c0001t0021g0069 |
3 | 74 | 0.0405 | 26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762557 | C | CACATATG others(19): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 74 | 0.0135 | 26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762561 | T | TATGCGTA others(19): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0074 | 1 | 74 | 0.0135 | 26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59771552 | A | AAGAAAGA others(19): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0026 | 1 | 74 | 0.0135 | 26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GAGATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG03453.hp1 |
a0002 | a0002c0005 | a0002c0005t0018 | a0002c0005t0018g0011 a0002c0005t0018g0012 |
2 | 336 | 0.0060 | 26 | c.-34 others(37): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | |||||||
PDE5A_chr4_119489403_119633804 | 119632087 | G | GATATATA others(19): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG01261.hp2 NA18953.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0003a0002c0003t0009others(1): Show | a0001c0001t0001g0258 a0002c0003t0003g0278 a0002c0003t0003g0283 others(3): Show |
6 | 336 | 0.0179 | 26 | c.-34 others(37): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 3284 | chr4 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149858816 | C | CTTTTTTT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 NA19030.hp1 |
a0002 | a0002c0015 | a0002c0015t0053a0002c0015t0054 | a0002c0015t0053g0222 a0002c0015t0054g0224 |
2 | 328 | 0.0061 | 26 | c.*20 others(37): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 22/22 | 2078 | chr5 | TogoVar | ||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG01975.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0023others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0035 a0001c0001t0001g0073 a0001c0001t0001g0097 others(19): Show |
22 | 328 | 0.0671 | 26 | c.111 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149900375 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0082 | 1 | 328 | 0.0031 | 26 | c.111 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 8/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149906519 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG01081.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0124 a0001c0001t0001g0145 others(8): Show |
11 | 328 | 0.0335 | 26 | c.106 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 7/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0121 | 1 | 328 | 0.0031 | 26 | c.858 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017 | a0001c0002t0001g0245 a0001c0002t0017g0280 |
2 | 328 | 0.0061 | 26 | c.858 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02895.hp2 HG04184.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0015 | a0001c0002t0005a0001c0002t0020a0001c0002t0023others(1): Show | a0001c0002t0005g0247 a0001c0002t0020g0298 a0001c0002t0023g0249 others(1): Show |
4 | 328 | 0.0122 | 26 | c.858 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03831.hp1 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0058 | a0001c0002t0007g0272 a0001c0002t0058g0227 |
2 | 328 | 0.0061 | 26 | c.858 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6A_chr5_149852953_149949793 | 149928231 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228 | 1 | 328 | 0.0031 | 26 | c.858 others(43): Show |
PDE6A | ENSG00000132915.12 | transcript | ENST00000255266.10 | protein_coding | 4/21 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622694 | A | ATCTCACA others(19): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02622.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0009others(1): Show | a0001c0001t0005a0001c0005t0001a0001c0009t0009others(1): Show | a0001c0001t0005g0265 a0001c0005t0001g0260 a0001c0005t0001g0261 others(5): Show |
8 | 308 | 0.0260 | 26 | c.-29 others(37): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2878 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 629033 | T | TCCCAGAA others(19): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 308 | 0.0033 | 26 | c.468 others(43): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDE6H_chr12_14968042_14986865 | 14982038 | A | ATTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0046 | 1 | 448 | 0.0022 | 26 | c.*56 others(35): Show |
PDE6H | ENSG00000139053.3 | transcript | ENST00000266395.3 | protein_coding | 174 | chr12 | TogoVar | |||||||
PDE7A_chr8_65709334_65847064 | 65798206 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | NA18971.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0001 | 2 | 248 | 0.0081 | 26 | c.139 others(45): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 1/12 | chr8 | TogoVar | |||||||
PDE7B_chr6_135846701_136200574 | 135935186 | T | TTTTATAT others(19): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19009.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0086 a0001c0001t0001g0102 |
3 | 142 | 0.0211 | 26 | c.22- others(43): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PDE7B_chr6_135846701_136200574 | 135935190 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02965.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0031a0001c0001t0037 | a0001c0001t0001g0094 a0001c0001t0031g0034 a0001c0001t0037g0040 |
3 | 142 | 0.0211 | 26 | c.22- others(43): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |