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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA6A_chr5_116438555_116579823 | 116484633 | AAATAAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(39): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(39): Show |
42 | 304 | 0.1382 | -6 | c.963 others(23): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 10/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116519687 | ACACACG | A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0018a0001c0001t0053others(1): Show | a0001c0001t0005g0198 a0001c0001t0018g0199 a0001c0001t0053g0201 others(1): Show |
4 | 304 | 0.0132 | -6 | c.-38 others(25): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6B_chr19_4537593_4564684 | 4542103 | AAAAAAG | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0002t0001g0016 others(2): Show |
6 | 440 | 0.0136 | -6 | c.*14 others(17): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 489 | chr19 | TogoVar | |||||||
SEMA6B_chr19_4537593_4564684 | 4549299 | CTTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01884.hp1 HG02004.hp2 others(23): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0240 others(22): Show |
26 | 440 | 0.0591 | -6 | c.127 others(23): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 12/16 | chr19 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47717832 | CTGTGTG | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG00733.hp1 others(27): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0002g0019 others(26): Show |
30 | 388 | 0.0773 | -6 | c.-55 others(21): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMA6D_chr15_47712505_47779228 | 47746980 | GTGTGTA | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00735.hp1 others(30): Show |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0035a0001c0004t0041others(7): Show | a0001c0004t0003g0007 a0001c0004t0003g0027 a0001c0004t0003g0028 others(27): Show |
33 | 388 | 0.0851 | -6 | c.-54 others(25): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SEMG1_chr20_45202033_45214768 | 45203537 | GTGTATA | G | upstream_gene_variant | MODIFIER | HG02055.hp1 NA18991.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 408 | 0.0098 | -6 | c.-35 others(17): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 3495 | chr20 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45203539 | GTATATA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0001c0020others(2): Show | a0001c0001t0001a0001c0010t0001a0001c0020t0001others(2): Show | a0001c0001t0001g0001 a0001c0010t0001g0001 a0001c0020t0001g0001 others(2): Show |
74 | 408 | 0.1814 | -6 | c.-35 others(17): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 3493 | chr20 | TogoVar | |||||||
SEMG1_chr20_45202033_45214768 | 45211879 | AGCAAGG | A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG02896.hp1 HG02897.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 3 | 408 | 0.0074 | -6 | c.*23 others(17): Show |
SEMG1 | ENSG00000124233.12 | transcript | ENST00000372781.4 | protein_coding | 2112 | chr20 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48057055 | TATATAA | T | intron_variant | MODIFIER | HG03516.hp2 HG03540.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 a0001c0001t0005g0300 a0001c0001t0005g0301 |
3 | 394 | 0.0076 | -6 | c.140 others(25): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 13/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48085715 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp1 others(112): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(112): Show |
115 | 394 | 0.2919 | -6 | c.381 others(23): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48093280 | GTTTTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01433.hp1 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0139 others(11): Show |
14 | 394 | 0.0355 | -6 | c.220 others(23): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 4/17 | chr12 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48104253 | AGACGGG | A | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0003g0161 a0001c0001t0003g0271 a0001c0001t0003g0272 others(41): Show |
48 | 394 | 0.1218 | -6 | c.-45 others(23): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185584452 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0003g0139 a0001c0001t0004g0038 a0001c0001t0004g0063 others(33): Show |
36 | 360 | 0.1000 | -6 | c.-19 others(17): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1842 | chr3 | TogoVar | |||||||
SENP2_chr3_185581295_185638551 | 185592011 | CTTTTTT | C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0147a0002c0002t0042a0002c0002t0190others(8): Show | a0001c0001t0147g0150 a0002c0002t0042g0213 a0002c0002t0190g0215 others(8): Show |
11 | 360 | 0.0306 | -6 | c.157 others(23): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185601041 | CTTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(60): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0007a0002c0002t0008a0002c0002t0011others(41): Show | a0002c0002t0007g0285 a0002c0002t0007g0292 a0002c0002t0007g0296 others(59): Show |
63 | 360 | 0.1750 | -6 | c.449 others(21): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185610154 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00597.hp2 others(71): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0002c0002t0002a0002c0002t0010others(39): Show | a0002c0002t0001g0220 a0002c0002t0001g0222 a0002c0002t0001g0229 others(71): Show |
74 | 360 | 0.2056 | -6 | c.722 others(21): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP3_chr17_7556919_7576969 | 7562031 | CGGAGGT | C | 5_prime_UTR_variant | MODIFIER | NA18940.hp2 NA18953.hp2 NA18954.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0046a0001c0001t0047others(3): Show | a0001c0001t0034g0012 a0001c0001t0034g0087 a0001c0001t0046g0083 others(6): Show |
10 | 446 | 0.0224 | -6 | c.-22 others(15): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 1/11 | 1025 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7566039 | AAAAAAG | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp1 others(72): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010a0001c0001t0013others(40): Show | a0001c0001t0003g0004 a0001c0001t0010g0004 a0001c0001t0010g0012 others(57): Show |
75 | 446 | 0.1682 | -6 | c.126 others(23): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SENP3_chr17_7556919_7576969 | 7571837 | TTATATA | T | 3_prime_UTR_variant | MODIFIER | HG01081.hp1 HG01175.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0123 | a0001c0001t0023g0002 a0001c0001t0023g0016 a0001c0001t0023g0034 others(1): Show |
6 | 446 | 0.0135 | -6 | c.*42 others(15): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 421 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571904 | TATATAA | T | 3_prime_UTR_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG01361.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0042a0001c0001t0085others(2): Show | a0001c0001t0031g0005 a0001c0001t0031g0062 a0001c0001t0042g0004 others(3): Show |
10 | 446 | 0.0224 | -6 | c.*42 others(15): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 423 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7571906 | TATAAAA | T | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03688.hp2 NA19056.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0135a0001c0001t0136a0001c0001t0167others(1): Show | a0001c0001t0135g0010 a0001c0001t0136g0004 a0001c0001t0167g0010 others(1): Show |
4 | 446 | 0.0090 | -6 | c.*42 others(15): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 11/11 | 427 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SENP5_chr3_196862920_196939714 | 196933011 | GGGTTTT | G | 3_prime_UTR_variant | MODIFIER | HG02976.hp2 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0021a0001c0005t0075 | a0001c0005t0021g0085 a0001c0005t0021g0086 a0001c0005t0021g0088 others(1): Show |
4 | 306 | 0.0131 | -6 | c.*20 others(17): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 10/10 | 2089 | chr3 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75638622 | ATTTTTT | A | intron_variant | MODIFIER | HG01516.hp1 HG02040.hp1 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0072 a0001c0001t0004g0301 a0001c0001t0004g0306 others(5): Show |
8 | 362 | 0.0221 | -6 | c.459 others(23): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 5/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75699354 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01069.hp1 others(23): Show |
a0001a0004a0009 | a0001c0001a0004c0006a0009c0013 | a0001c0001t0005a0001c0001t0012a0004c0006t0005others(1): Show | a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 others(23): Show |
26 | 362 | 0.0718 | -6 | c.228 others(25): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 18/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75705731 | ATTTTTC | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01069.hp1 others(32): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0005a0001c0016others(3): Show | a0001c0001t0005a0001c0001t0012a0001c0005t0006others(4): Show | a0001c0001t0005g0141 a0001c0001t0005g0143 a0001c0001t0005g0144 others(32): Show |
35 | 362 | 0.0967 | -6 | c.271 others(25): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP6_chr6_75596880_75723281 | 75707355 | CTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(81): Show |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0002a0001c0001t0015a0001c0001t0016others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0054 others(81): Show |
84 | 362 | 0.2320 | -6 | c.271 others(25): Show |
SENP6 | ENSG00000112701.18 | transcript | ENST00000447266.7 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101323905 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(11): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 others(104): Show |
107 | 370 | 0.2892 | -6 | c.*20 others(17): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 299 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101323944 | ACACACC | A | downstream_gene_variant | MODIFIER | HG01169.hp2 HG01346.hp1 HG02976.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0005c0007t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0341 others(1): Show |
4 | 370 | 0.0108 | -6 | c.*19 others(17): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 260 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101463392 | TATATAC | T | intron_variant | MODIFIER | HG01943.hp1 HG02109.hp1 NA19240.hp2 others(1): Show |
a0003a0011 | a0003c0004a0011c0012 | a0003c0004t0002a0003c0004t0015a0011c0012t0005 | a0003c0004t0002g0096 a0003c0004t0002g0119 a0003c0004t0015g0093 others(1): Show |
4 | 370 | 0.0108 | -6 | c.187 others(23): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 3/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101501578 | CATGCTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(160): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0005a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(160): Show |
163 | 370 | 0.4405 | -6 | c.41- others(19): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101504016 | AAATAAT | A | intron_variant | MODIFIER | HG02647.hp1 HG06807.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0012 | a0002c0002t0003g0090 a0002c0002t0003g0091 a0002c0002t0012g0072 |
3 | 370 | 0.0081 | -6 | c.41- others(21): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SEPHS1_chr10_13312428_13353293 | 13325895 | CAAAAAA | C | intron_variant | MODIFIER | HG01099.hp2 HG02056.hp2 HG02083.hp2 others(13): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0013others(1): Show | a0001c0002t0001g0098 a0001c0002t0001g0103 a0001c0002t0001g0109 others(11): Show |
16 | 378 | 0.0423 | -6 | c.751 others(23): Show |
SEPHS1 | ENSG00000086475.15 | transcript | ENST00000327347.10 | protein_coding | 7/8 | chr10 | TogoVar | |||||||
SEPSECS_chr4_25115014_25165449 | 25128429 | TAACAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00741.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0049 a0001c0001t0001g0220 others(28): Show |
40 | 456 | 0.0877 | -6 | c.102 others(25): Show |
SEPSECS | ENSG00000109618.13 | transcript | ENST00000382103.7 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SEPSECS_chr4_25115014_25165449 | 25134320 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00621.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(2): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0050 others(30): Show |
42 | 456 | 0.0921 | -6 | c.102 others(25): Show |
SEPSECS | ENSG00000109618.13 | transcript | ENST00000382103.7 | protein_coding | 8/10 | chr4 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109562215 | AAATAAT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(58): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0007a0004c0006others(2): Show | a0001c0001t0004a0001c0007t0004a0004c0006t0004others(2): Show | a0001c0001t0004g0008 a0001c0001t0004g0180 a0001c0001t0004g0181 others(57): Show |
61 | 404 | 0.1510 | -6 | c.102 others(25): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109582075 | GACACAC | G | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0336 others(6): Show |
9 | 404 | 0.0223 | -6 | c.413 others(23): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109590048 | ATGTGTG | A | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 others(6): Show |
9 | 404 | 0.0223 | -6 | c.99+ others(21): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109602306 | AATTAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(61): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0007a0004c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0007t0004others(3): Show | a0001c0001t0002g0190 a0001c0001t0002g0204 a0001c0001t0002g0213 others(60): Show |
64 | 404 | 0.1584 | -6 | c.31- others(21): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN11_chr4_76944752_77043615 | 76971563 | ATTAGAT | A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00673.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0234 a0001c0001t0001g0247 a0001c0001t0001g0248 others(75): Show |
85 | 370 | 0.2297 | -6 | c.27+ others(23): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN11_chr4_76944752_77043615 | 76971583 | TAGATTA | T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00621.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0009 | a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 others(12): Show |
15 | 370 | 0.0405 | -6 | c.27+ others(23): Show |
SEPTIN11 | ENSG00000138758.12 | transcript | ENST00000264893.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEPTIN14_chr7_55788540_55867752 | 55799518 | CAAAAAA | C | intron_variant | MODIFIER | HG02135.hp2 HG03209.hp2 NA18944.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0018others(2): Show | a0001c0001t0001g0278 a0001c0001t0001g0323 a0001c0001t0009g0289 others(3): Show |
6 | 390 | 0.0154 | -6 | c.112 others(25): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 9/9 | chr7 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55832202 | AACACAC | A | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01257.hp1 others(49): Show |
a0001a0003a0007 | a0001c0001a0001c0012a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0242 a0001c0001t0002g0014 a0001c0001t0002g0173 others(49): Show |
52 | 390 | 0.1333 | -6 | c.720 others(23): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30385176 | AAATAAT | A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01099.hp1 others(41): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0001a0001c0002t0001a0006c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(8): Show |
44 | 310 | 0.1419 | -6 | c.-26 others(17): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 2616 | chr16 | TogoVar | |||||||
SEPTIN3_chr22_41964443_42003221 | 41990745 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(150): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0010 others(129): Show |
153 | 360 | 0.4250 | -6 | c.216 others(23): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN3_chr22_41964443_42003221 | 41994883 | CTGTGTG | C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp1 HG02572.hp1 others(5): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0040 a0002c0002t0001g0067 a0002c0002t0001g0086 others(5): Show |
8 | 360 | 0.0222 | -6 | c.250 others(23): Show |
SEPTIN3 | ENSG00000100167.21 | transcript | ENST00000644076.2 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119613181 | AAAGTTC | A | downstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 252 | 0.0040 | -6 | c.*69 others(17): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 3763 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119617099 | CGTGTGT | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00741.hp2 HG01074.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0022others(1): Show | a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0017 others(31): Show |
34 | 252 | 0.1349 | -6 | c.*29 others(17): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 11/11 | 8271 | chrX | TogoVar | ||||||
SEPTIN6_chrX_119611945_119698168 | 119690338 | TACATAC | T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 252 | 0.0040 | -6 | c.30+ others(21): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar | |||||||
SEPTIN6_chrX_119611945_119698168 | 119690348 | TACACAC | T | intron_variant | MODIFIER | HG01258.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023 a0001c0001t0003g0022 |
2 | 252 | 0.0079 | -6 | c.30+ others(21): Show |
SEPTIN6 | ENSG00000125354.24 | transcript | ENST00000394610.7 | protein_coding | 1/10 | chrX | TogoVar |