| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCSK5_chr9_75885673_76367975 | 76081472 | TAAACAAA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02622.hp1 others(1): Show |
a0003a0005a0018 | a0003c0010a0005c0066a0018c0069others(1): Show | a0003c0010t0054a0005c0066t0002a0018c0069t0003others(1): Show | a0003c0010t0054g0083a0005c0066t0002g0016a0018c0069t0003g0063others(1): Show | 4 | 166 | 0.0241 | -8 | c.894 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76091312 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00738.hp2 others(33): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0013a0002c0016others(23): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0059others(31): Show | a0001c0001t0002g0097a0001c0001t0002g0112a0001c0001t0003g0155others(33): Show | 36 | 166 | 0.2169 | -8 | c.895 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76148354 | TCTCTCTC others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG01255.hp1 HG01256.hp1 others(10): Show |
a0001a0004a0007others(5): Show | a0001c0001a0001c0004a0004c0006others(6): Show | a0001c0001t0027a0001c0004t0001a0001c0004t0007others(10): Show | a0001c0001t0027g0018a0001c0004t0001g0022a0001c0004t0007g0036others(10): Show | 13 | 166 | 0.0783 | -8 | c.131 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76267950 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00642.hp1 others(59): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0013others(42): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(55): Show | a0001c0001t0002g0112a0001c0001t0003g0155a0001c0001t0005g0025others(59): Show | 62 | 166 | 0.3735 | -8 | c.314 others(29): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76273568 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG03041.hp2 HG03486.hp1 NA19030.hp2 |
a0004a0016a0017 | a0004c0006a0016c0028a0017c0027 | a0004c0006t0006a0016c0028t0062a0017c0027t0005 | a0004c0006t0006g0041a0016c0028t0062g0074a0017c0027t0005g0013 | 3 | 166 | 0.0181 | -8 | c.314 others(29): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76289469 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02922.hp2 HG03098.hp2 |
a0020a0031 | a0020c0048a0020c0071a0031c0068 | a0020c0048t0055a0020c0071t0053a0031c0068t0001 | a0020c0048t0055g0138a0020c0071t0053g0053a0031c0068t0001g0069 | 3 | 166 | 0.0181 | -8 | c.314 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 24/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76343333 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01109.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0080others(6): Show | a0001c0001t0005a0001c0001t0008a0001c0004t0007others(7): Show | a0001c0001t0005g0025a0001c0001t0005g0047a0001c0001t0008g0068others(9): Show | 12 | 166 | 0.0723 | -8 | c.496 others(27): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK5_chr9_75885673_76367975 | 76351447 | GGAAAGAA others(1): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 HG03540.hp2 |
a0001a0003a0037 | a0001c0049a0003c0051a0037c0086 | a0001c0049t0013a0003c0051t0013a0037c0086t0001 | a0001c0049t0013g0120a0003c0051t0013g0121a0037c0086t0001g0159 | 3 | 166 | 0.0181 | -8 | c.506 others(25): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PCSK6_chr15_101298933_101494707 | 101301537 | GCTATCTA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02451.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0003t0005a0001c0007t0005others(5): Show | a0001c0001t0001g0267a0001c0003t0005g0061a0001c0007t0005g0088others(8): Show | 11 | 336 | 0.0327 | -8 | c.*37 others(19): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 2395 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101356678 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03239.hp1 NA18975.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0009a0001c0002t0001others(1): Show | a0001c0001t0001g0232a0001c0001t0009g0295a0001c0002t0001g0195others(1): Show | 4 | 336 | 0.0119 | -8 | c.185 others(27): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 13/21 | chr15 | TogoVar | ||||||
| PCSK6_chr15_101298933_101494707 | 101424618 | TACACAGG others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(29): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0183a0001c0001t0001g0236a0001c0001t0001g0277others(29): Show | 32 | 336 | 0.0952 | -8 | c.823 others(25): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
| PCYOX1_chr2_70253137_70286185 | 70253220 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(8): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(1): Show | a0001c0001t0010g0050a0001c0001t0010g0202a0001c0001t0010g0204others(7): Show | 11 | 424 | 0.0259 | -8 | c.-49 others(19): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 4916 | chr2 | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24554637 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02015.hp1 HG02135.hp1 HG03669.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0097 | a0001c0001t0012g0001a0001c0001t0012g0221a0001c0001t0097g0220 | 5 | 260 | 0.0192 | -8 | c.*76 others(19): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3449 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24554677 | TGTGTGTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00639.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0199a0001c0001t0014g0201 | 2 | 260 | 0.0077 | -8 | c.*76 others(19): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3409 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24573133 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0126 | 1 | 260 | 0.0039 | -8 | c.897 others(25): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 7/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24573157 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(113): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(110): Show | 116 | 260 | 0.4462 | -8 | c.897 others(25): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 7/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24593432 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0152 | 1 | 260 | 0.0039 | -8 | c.335 others(25): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24606864 | TCAAACAA others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0056a0001c0002t0059 | a0001c0002t0056g0126a0001c0002t0059g0125 | 2 | 260 | 0.0077 | -8 | c.334 others(23): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 3/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24613950 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0202 | 1 | 260 | 0.0039 | -8 | c.217 others(25): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 2/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24644449 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0050 | a0001c0001t0001g0018a0001c0001t0050g0017 | 2 | 260 | 0.0077 | -8 | c.117 others(25): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24650317 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0180 | 1 | 260 | 0.0039 | -8 | c.-32 others(19): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 2971 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24651470 | AAAATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG03540.hp1 NA19030.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0090a0001c0002t0091 | a0001c0001t0090g0174a0001c0002t0091g0192 | 2 | 260 | 0.0077 | -8 | c.-43 others(19): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4124 | chrX | TogoVar | ||||||
| PCYT1B_chrX_24553087_24652347 | 24651472 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02109.hp1 HG02630.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0015a0001c0001t0083a0001c0001t0098others(1): Show | a0001c0001t0015g0251a0001c0001t0015g0252a0001c0001t0083g0150others(2): Show | 5 | 260 | 0.0192 | -8 | c.-43 others(19): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4126 | chrX | TogoVar | ||||||
| PC_chr11_66843420_66963383 | 66847846 | TGTGGGCA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0013t0001 | a0001c0001t0001g0247a0001c0001t0001g0250a0001c0001t0001g0256others(2): Show | 5 | 274 | 0.0183 | -8 | c.*10 others(19): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 573 | chr11 | TogoVar | ||||||
| PC_chr11_66843420_66963383 | 66896922 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG02056.hp2 others(21): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0008 | a0001c0001t0001a0001c0003t0001a0006c0008t0001 | a0001c0001t0001g0059a0001c0001t0001g0153a0001c0001t0001g0183others(21): Show | 24 | 274 | 0.0876 | -8 | c.1-2 others(23): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
| PC_chr11_66843420_66963383 | 66941078 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(15): Show |
a0001a0005 | a0001c0001a0001c0013a0005c0012 | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(1): Show | a0001c0001t0001g0245a0001c0001t0001g0246a0001c0001t0001g0247others(15): Show | 18 | 274 | 0.0657 | -8 | c.-1+ others(25): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
| PC_chr11_66843420_66963383 | 66948012 | AAGATAGA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp1 HG02004.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0014 | a0001c0001t0001a0001c0011t0001a0004c0014t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(15): Show | 18 | 274 | 0.0657 | -8 | c.-1+ others(23): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
| PDCD10_chr3_167678298_167739892 | 167725761 | GTTTATAT others(1): Show |
G | intron_variant | MODIFIER | NA18943.hp2 NA18973.hp1 NA19010.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071a0001c0001t0004g0081a0001c0001t0004g0088others(1): Show | 4 | 284 | 0.0141 | -8 | c.-11 others(27): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
| PDCD10_chr3_167678298_167739892 | 167725763 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0248a0001c0001t0002g0007a0001c0001t0002g0027others(9): Show | 13 | 284 | 0.0458 | -8 | c.-11 others(27): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
| PDCD1LG2_chr9_5505531_5576282 | 5508342 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00673.hp1 others(71): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0049others(69): Show | 74 | 406 | 0.1823 | -8 | c.-24 others(19): Show |
PDCD1LG2 | ENSG00000197646.8 | transcript | ENST00000397747.5 | protein_coding | 2188 | chr9 | TogoVar | ||||||
| PDCL2_chr4_55551519_55597245 | 55587216 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(91): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(66): Show | 94 | 376 | 0.2500 | -8 | c.6+4 others(21): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
| PDCL2_chr4_55551519_55597245 | 55593359 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00544.hp1 others(79): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0009others(58): Show | 82 | 376 | 0.2181 | -8 | c.-12 others(19): Show |
PDCL2 | ENSG00000163440.12 | transcript | ENST00000295645.9 | protein_coding | 1115 | chr4 | TogoVar | ||||||
| PDCL_chr9_122813097_122833588 | 122830603 | GTTTATTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 4 | 422 | 0.0095 | -8 | c.-21 others(19): Show |
PDCL | ENSG00000136940.14 | transcript | ENST00000259467.9 | protein_coding | 2016 | chr9 | TogoVar | ||||||
| PDC_chr1_186438566_186466114 | 186455870 | GCTGAGGC others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01069.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0008others(32): Show | 49 | 404 | 0.1213 | -8 | c.-25 others(25): Show |
PDC | ENSG00000116703.14 | transcript | ENST00000391997.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165459489 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01106.hp1 others(7): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0006a0001c0003t0001others(5): Show | a0001c0001t0001g0141a0001c0001t0001g0171a0001c0002t0006g0120others(7): Show | 10 | 222 | 0.0451 | -8 | c.102 others(27): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 3/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165459518 | TAGATAGA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0001others(6): Show | a0001c0001t0003g0112a0001c0001t0033g0218a0001c0002t0001g0168others(6): Show | 9 | 222 | 0.0405 | -8 | c.102 others(27): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 3/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165459522 | TAGACAGA others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01081.hp2 others(21): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010a0001c0001t0001g0020a0001c0001t0002g0042others(21): Show | 24 | 222 | 0.1081 | -8 | c.102 others(27): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 3/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165488029 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0006a0001c0003t0016a0001c0009t0002others(3): Show | a0001c0001t0006g0033a0001c0003t0016g0145a0001c0009t0002g0034others(3): Show | 6 | 222 | 0.0270 | -8 | c.995 others(25): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165646784 | CTTTGAAT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG01099.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0011a0001c0001t0002g0013a0001c0001t0003g0009others(14): Show | 17 | 222 | 0.0766 | -8 | c.865 others(27): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165656256 | TCTCACAC others(1): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0207a0003c0014t0002g0208 | 2 | 222 | 0.0090 | -8 | c.865 others(25): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PDE10A_chr6_165322289_165668241 | 165656258 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0128a0001c0001t0001g0137a0001c0001t0001g0141others(17): Show | 20 | 222 | 0.0901 | -8 | c.865 others(25): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177627017 | CTTTTTTT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00609.hp1 HG01099.hp2 HG01175.hp1 others(9): Show |
a0002a0006 | a0002c0002a0002c0004a0002c0033others(2): Show | a0002c0002t0004a0002c0002t0006a0002c0004t0004others(3): Show | a0002c0002t0004g0032a0002c0002t0004g0033a0002c0002t0004g0070others(9): Show | 12 | 170 | 0.0706 | -8 | c.*23 others(19): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 20/20 | 2382 | chr2 | TogoVar | |||||
| PDE11A_chr2_177618244_178077777 | 177631508 | AAAAAATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01071.hp1 HG01099.hp2 others(3): Show |
a0002a0010 | a0002c0002a0002c0004a0010c0022 | a0002c0002t0001a0002c0002t0036a0002c0004t0001others(2): Show | a0002c0002t0001g0073a0002c0002t0036g0036a0002c0004t0001g0056others(3): Show | 6 | 170 | 0.0353 | -8 | c.264 others(27): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177631582 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0008a0001c0001t0014a0001c0001t0026others(10): Show | a0001c0001t0008g0030a0001c0001t0014g0051a0001c0001t0014g0063others(11): Show | 14 | 170 | 0.0824 | -8 | c.264 others(27): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177660097 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01099.hp1 others(13): Show |
a0001a0002a0011others(1): Show | a0001c0001a0001c0003a0001c0010others(5): Show | a0001c0001t0008a0001c0003t0008a0001c0003t0014others(8): Show | a0001c0001t0008g0084a0001c0001t0008g0148a0001c0003t0008g0145others(13): Show | 16 | 170 | 0.0941 | -8 | c.264 others(27): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177772973 | TTGATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp1 others(85): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(19): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(63): Show | a0001c0001t0002g0058a0001c0001t0003g0049a0001c0001t0005g0060others(85): Show | 88 | 170 | 0.5177 | -8 | c.173 others(27): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177782922 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02922.hp1 |
a0001a0003a0005 | a0001c0001a0003c0008a0005c0012 | a0001c0001t0008a0003c0008t0013a0005c0012t0009 | a0001c0001t0008g0030a0003c0008t0013g0167a0005c0012t0009g0088 | 3 | 170 | 0.0177 | -8 | c.173 others(29): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 9/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177832554 | CATCTATC others(1): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG02040.hp2 HG02129.hp2 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0032a0002c0004t0001 | a0001c0003t0032g0120a0002c0004t0001g0119a0002c0004t0001g0125 | 3 | 170 | 0.0177 | -8 | c.150 others(27): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 6/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177853674 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA18966.hp1 |
a0002 | a0002c0002a0002c0033 | a0002c0002t0004a0002c0033t0006 | a0002c0002t0004g0033a0002c0033t0006g0168 | 2 | 170 | 0.0118 | -8 | c.136 others(29): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | ||||||
| PDE11A_chr2_177618244_178077777 | 177853676 | ATATATGT others(1): Show |
A | intron_variant | MODIFIER | HG03516.hp2 NA20129.hp1 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0047a0001c0009t0016 | a0001c0005t0047g0018a0001c0009t0016g0011 | 2 | 170 | 0.0118 | -8 | c.136 others(29): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar |