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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDH15_chr10_53816099_54806231 | 53851671 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0025 | a0025c0026 | a0025c0026t0001 | a0025c0026t0001g0056 | 1 | 94 | 0.0106 | -26 | c.380 others(45): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53918713 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp1 HG01069.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0007a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0040 others(28): Show |
31 | 94 | 0.3298 | -26 | c.337 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 25/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53984116 | GCTTTTCT others(19): Show |
G | intron_variant | MODIFIER | HG02602.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0055 | 1 | 94 | 0.0106 | -26 | c.286 others(47): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 21/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54242128 | TTTTATAT others(19): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02145.hp2 HG02965.hp1 others(1): Show |
a0003a0032 | a0003c0003a0003c0025a0032c0012 | a0003c0003t0001a0003c0003t0002a0003c0025t0001others(1): Show | a0003c0003t0001g0017 a0003c0003t0002g0080 a0003c0025t0001g0018 others(1): Show |
4 | 94 | 0.0426 | -26 | c.877 others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54551055 | CGAGGCAG others(19): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp2 |
a0004a0022 | a0004c0004a0022c0033 | a0004c0004t0005a0022c0033t0001 | a0004c0004t0005g0029 a0022c0033t0001g0073 |
2 | 94 | 0.0213 | -26 | c.92- others(43): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31079309 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0001a0001c0001t0049a0001c0002t0009others(1): Show | a0001c0001t0001g0204 a0001c0001t0049g0195 a0001c0002t0009g0156 others(1): Show |
4 | 214 | 0.0187 | -26 | c.339 others(47): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCDH9_chr13_66297834_67235336 | 66824303 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00642.hp2 others(15): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0004others(14): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0006g0063 others(15): Show |
18 | 80 | 0.2250 | -26 | c.313 others(47): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
PCDH9_chr13_66297834_67235336 | 67214935 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0011others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 others(15): Show |
18 | 80 | 0.2250 | -26 | c.303 others(47): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82999730 | AATATAAA others(19): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG02602.hp1 HG02630.hp1 others(5): Show |
a0001a0004a0011others(3): Show | a0001c0001a0001c0019a0004c0024others(4): Show | a0001c0001t0002a0001c0019t0003a0001c0019t0034others(5): Show | a0001c0001t0002g0146 a0001c0019t0003g0132 a0001c0019t0034g0027 others(5): Show |
8 | 188 | 0.0426 | -26 | c.330 others(47): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46372163 | CGCACACA others(19): Show |
C | intron_variant | MODIFIER | HG02735.hp1 | a0008 | a0008c0007 | a0008c0007t0001 | a0008c0007t0001g0008 | 1 | 332 | 0.0030 | -26 | c.316 others(45): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46381196 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307 | 1 | 332 | 0.0030 | -26 | c.316 others(43): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71006103 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02723.hp1 |
a0001 | a0001c0002 | a0001c0002t0035a0001c0002t0064 | a0001c0002t0035g0313 a0001c0002t0064g0345 |
2 | 352 | 0.0057 | -26 | c.263 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71014765 | CAAGGAGA others(19): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0191 | 1 | 352 | 0.0028 | -26 | c.299 others(45): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17479927 | TCAAAGTC others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00673.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0120 others(36): Show |
39 | 274 | 0.1423 | -26 | c.143 others(45): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 75994396 | CTTTCTTT others(19): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0046 | a0046c0088 | a0046c0088t0001 | a0046c0088t0001g0159 | 1 | 166 | 0.0060 | -26 | c.411 others(43): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76040359 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01346.hp1 |
a0001a0003a0028 | a0001c0097a0003c0005a0028c0090 | a0001c0097t0002a0003c0005t0002a0028c0090t0001 | a0001c0097t0002g0103 a0003c0005t0002g0100 a0028c0090t0001g0110 |
3 | 166 | 0.0181 | -26 | c.632 others(45): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101311911 | CCCCTCAC others(19): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0017 | a0017c0047 | a0017c0047t0009 | a0017c0047t0009g0037 | 1 | 336 | 0.0030 | -26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101312063 | CCCCTCAC others(19): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0020 | a0006c0020t0001 | a0006c0020t0001g0008 | 1 | 336 | 0.0030 | -26 | c.269 others(45): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651468 | AAAAAATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 260 | 0.0039 | -26 | c.-43 others(37): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4122 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651470 | AAAATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0222 | 1 | 260 | 0.0039 | -26 | c.-43 others(37): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4124 | chrX | TogoVar | |||||||
PCYT1B_chrX_24553087_24652347 | 24651472 | AATATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02135.hp1 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0062others(1): Show | a0001c0001t0012g0001 a0001c0001t0012g0221 a0001c0001t0013g0232 others(3): Show |
7 | 260 | 0.0269 | -26 | c.-43 others(37): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 4126 | chrX | TogoVar | |||||||
PDAP1_chr7_99389673_99413597 | 99412775 | CTAATTTT others(19): Show |
C | upstream_gene_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 334 | 0.0030 | -26 | c.-42 others(37): Show |
PDAP1 | ENSG00000106244.13 | transcript | ENST00000350498.8 | protein_coding | 4179 | chr7 | TogoVar | |||||||
PDCD10_chr3_167678298_167739892 | 167725763 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 284 | 0.0035 | -26 | c.-11 others(45): Show |
PDCD10 | ENSG00000114209.15 | transcript | ENST00000392750.7 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
PDCD4_chr10_110866928_110905006 | 110878824 | GCTAATAG others(19): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0014 a0001c0001t0001g0110 a0001c0001t0028g0111 |
6 | 418 | 0.0144 | -26 | c.44- others(41): Show |
PDCD4 | ENSG00000150593.18 | transcript | ENST00000280154.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDCD6IP_chr3_33793630_33874703 | 33839464 | GGGCAGTA others(19): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(127): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0006a0002c0008others(7): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0009others(12): Show | a0002c0002t0002g0002 a0002c0002t0002g0005 a0002c0002t0002g0007 others(107): Show |
130 | 318 | 0.4088 | -26 | c.118 others(45): Show |
PDCD6IP | ENSG00000170248.15 | transcript | ENST00000307296.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 287420 | ATGCATTC others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01081.hp2 HG01169.hp1 |
a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0281 a0002c0004t0003g0282 a0002c0004t0003g0298 |
3 | 360 | 0.0083 | -26 | c.163 others(45): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE10A_chr6_165322289_165668241 | 165384627 | AGTGAGTG others(19): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01168.hp1 others(29): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(23): Show | a0001c0001t0002g0109 a0001c0001t0003g0063 a0001c0001t0003g0099 others(29): Show |
32 | 222 | 0.1441 | -26 | c.261 others(45): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 17/21 | chr6 | TogoVar | |||||||
PDE10A_chr6_165322289_165668241 | 165498423 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA18961.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 a0001c0001t0001g0139 |
2 | 222 | 0.0090 | -26 | c.995 others(45): Show |
PDE10A | ENSG00000112541.19 | transcript | ENST00000539869.4 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177853660 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG02083.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0012others(1): Show | a0001c0001t0031a0001c0006t0018a0001c0006t0022others(3): Show | a0001c0001t0031g0080 a0001c0006t0018g0006 a0001c0006t0022g0004 others(3): Show |
6 | 170 | 0.0353 | -26 | c.136 others(47): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
PDE11A_chr2_177618244_178077777 | 177853666 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0033 | a0001c0033t0068 | a0001c0033t0068g0170 | 1 | 170 | 0.0059 | -26 | c.136 others(47): Show |
PDE11A | ENSG00000128655.19 | transcript | ENST00000286063.11 | protein_coding | 5/19 | chr2 | TogoVar | |||||||
PDE4B_chr1_65787895_66379574 | 66278827 | CGTGTGTG others(19): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02300.hp1 HG03654.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0056 a0001c0001t0002g0015 a0001c0001t0002g0018 others(4): Show |
7 | 118 | 0.0593 | -26 | c.634 others(45): Show |
PDE4B | ENSG00000184588.18 | transcript | ENST00000341517.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59065067 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0056 |
2 | 74 | 0.0270 | -26 | c.809 others(45): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 5/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762350 | ATATATGT others(19): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 | 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 | 59762507 | TATGTGTA others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0003g0045 others(2): Show |
5 | 74 | 0.0676 | -26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE4D_chr5_58964038_59898726 | 59762854 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0043 a0001c0001t0003g0044 a0001c0001t0004g0073 |
3 | 74 | 0.0405 | -26 | c.455 others(47): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622799 | TCAGGTGC others(19): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01978.hp1 HG02615.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0130 a0001c0001t0002g0214 others(1): Show |
4 | 308 | 0.0130 | -26 | c.-28 others(37): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2773 | chr4 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 622835 | GTCACAGG others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00621.hp1 others(69): Show |
a0001a0012a0013others(4): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0010 a0001c0001t0001g0056 a0001c0001t0001g0075 others(64): Show |
72 | 308 | 0.2338 | -26 | c.-27 others(37): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 2737 | chr4 | TogoVar | |||||||
PDE6C_chr10_93607537_93671010 | 93622638 | GGTTTTTT others(19): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02451.hp2 HG02486.hp2 others(10): Show |
a0002a0004 | a0002c0003a0002c0004a0004c0013 | a0002c0003t0001a0002c0004t0001a0004c0013t0001 | a0002c0003t0001g0066 a0002c0003t0001g0256 a0002c0003t0001g0326 others(10): Show |
13 | 384 | 0.0339 | -26 | c.864 others(41): Show |
PDE6C | ENSG00000095464.10 | transcript | ENST00000371447.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PDE7A_chr8_65709334_65847064 | 65713439 | AACACACA others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0186 | 1 | 248 | 0.0040 | -26 | c.*58 others(37): Show |
PDE7A | ENSG00000205268.11 | transcript | ENST00000401827.8 | protein_coding | 894 | chr8 | TogoVar | |||||||
PDE8A_chr15_84976856_85144142 | 85066583 | AACACACA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00609.hp1 others(76): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0007 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0035 others(76): Show |
79 | 344 | 0.2297 | -26 | c.244 others(41): Show |
PDE8A | ENSG00000073417.15 | transcript | ENST00000394553.6 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PDGFB_chr22_39218359_39249982 | 39247875 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01175.hp1 HG03490.hp2 HG03492.hp1 others(5): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0002a0006c0007t0001 | a0001c0001t0001g0037 a0001c0001t0001g0127 a0001c0001t0001g0129 others(4): Show |
8 | 386 | 0.0207 | -26 | c.-39 others(37): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2894 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247877 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 HG01981.hp1 HG02723.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0103 others(3): Show |
6 | 386 | 0.0155 | -26 | c.-39 others(37): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2896 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247879 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050 | 1 | 386 | 0.0026 | -26 | c.-39 others(37): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2898 | chr22 | TogoVar | |||||||
PDGFB_chr22_39218359_39249982 | 39247881 | AAAAAAAA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0046 | 1 | 386 | 0.0026 | -26 | c.-39 others(37): Show |
PDGFB | ENSG00000100311.17 | transcript | ENST00000331163.11 | protein_coding | 2900 | chr22 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156824285 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01358.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0031 | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 others(10): Show |
13 | 208 | 0.0625 | -26 | c.315 others(45): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156891279 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 208 | 0.0048 | -26 | c.119 others(45): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 208 | 0.0048 | -26 | c.118 others(45): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(19): Show |
A | upstream_gene_variant | MODIFIER | HG02040.hp1 HG03471.hp1 NA19002.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0021a0001c0002t0002 | a0001c0001t0001g0078 a0001c0001t0021g0090 a0001c0002t0002g0050 |
3 | 208 | 0.0144 | -26 | c.-40 others(37): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | |||||||
PDGFD_chr11_103902189_104169147 | 104115257 | TCATATAT others(19): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0015 | 1 | 200 | 0.0050 | -26 | c.124 others(45): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
PDGFRL_chr8_17572216_17648144 | 17626801 | TGTCCTAA others(19): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 400 | 0.0025 | -26 | c.506 others(43): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |