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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRED2_chr2_65305851_65437599 | 65356525 | CCCAGTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00741.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0003g0203 a0001c0001t0003g0239 a0001c0001t0003g0240 others(14): Show |
17 | 276 | 0.0616 | -6 | c.27- others(23): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65401935 | GCGCACA | G | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02630.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0226 a0001c0001t0003g0230 a0001c0001t0003g0231 others(4): Show |
7 | 276 | 0.0254 | -6 | c.26+ others(23): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422077 | AACACAC | A | intron_variant | MODIFIER | HG02055.hp2 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0003a0001c0003t0003a0001c0009t0001 | a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0003g0273 others(6): Show |
9 | 276 | 0.0326 | -6 | c.26+ others(21): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65422104 | ACTCTCT | A | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp2 HG02083.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0023a0001c0002t0001 | a0001c0001t0003g0212 a0001c0001t0023g0270 a0001c0002t0001g0191 others(1): Show |
4 | 276 | 0.0145 | -6 | c.26+ others(21): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
SPRN_chr10_133415666_133429625 | 133429066 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0049others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0049g0087 others(24): Show |
58 | 474 | 0.1224 | -6 | c.-46 others(17): Show |
SPRN | ENSG00000203772.8 | transcript | ENST00000685335.1 | protein_coding | 4442 | chr10 | TogoVar | |||||||
SPRR2A_chr1_153051120_153062512 | 153052395 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0002t0001g0002 |
42 | 442 | 0.0950 | -6 | c.*41 others(17): Show |
SPRR2A | ENSG00000241794.2 | transcript | ENST00000392653.3 | protein_coding | 3724 | chr1 | TogoVar | |||||||
SPRR2F_chr1_153107121_153118516 | 153111687 | GTGATGA | G | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01496.hp1 HG01943.hp1 others(15): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0008t0001g0016 |
18 | 436 | 0.0413 | -6 | c.*82 others(15): Show |
SPRR2F | ENSG00000244094.2 | transcript | ENST00000468739.2 | protein_coding | 433 | chr1 | TogoVar | |||||||
SPRR2F_chr1_153107121_153118516 | 153114017 | TTTTTTG | T | upstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02155.hp2 others(12): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0002 a0004c0004t0001g0005 |
15 | 436 | 0.0344 | -6 | c.-56 others(15): Show |
SPRR2F | ENSG00000244094.2 | transcript | ENST00000468739.2 | protein_coding | 502 | chr1 | TogoVar | |||||||
SPRR3_chr1_152996749_153008856 | 153004613 | TTTATTA | T | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02970.hp2 HG03209.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 6 | 420 | 0.0143 | -6 | c.*10 others(17): Show |
SPRR3 | ENSG00000163209.15 | transcript | ENST00000295367.5 | protein_coding | 758 | chr1 | TogoVar | |||||||
SPRR4_chr1_152965648_152977574 | 152971576 | TCTCACA | T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0028 |
3 | 440 | 0.0068 | -6 | c.-20 others(21): Show |
SPRR4 | ENSG00000184148.4 | transcript | ENST00000328051.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPRR4_chr1_152965648_152977574 | 152971578 | TCACACA | T | intron_variant | MODIFIER | HG02258.hp2 HG02300.hp2 HG02486.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0023 |
15 | 440 | 0.0341 | -6 | c.-20 others(21): Show |
SPRR4 | ENSG00000184148.4 | transcript | ENST00000328051.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPRR5_chr1_152942206_152954255 | 152944638 | TGTGTGC | T | upstream_gene_variant | MODIFIER | HG01192.hp1 HG02683.hp2 HG03669.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0003c0003t0001g0001 |
5 | 436 | 0.0115 | -6 | c.-26 others(17): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 2567 | chr1 | TogoVar | |||||||
SPRTN_chr1_231333293_231360023 | 231359054 | TTATATA | T | downstream_gene_variant | MODIFIER | HG01192.hp2 HG03239.hp1 NA19070.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0068 a0002c0002t0002g0008 a0003c0003t0001g0006 |
3 | 352 | 0.0085 | -6 | c.*56 others(17): Show |
SPRTN | ENSG00000010072.16 | transcript | ENST00000295050.12 | protein_coding | 4032 | chr1 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155638293 | AATATAT | A | intron_variant | MODIFIER | HG01346.hp2 HG01993.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013 a0001c0001t0002g0007 a0001c0001t0003g0071 others(5): Show |
8 | 231 | 0.0346 | -6 | c.-28 others(27): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155654686 | GGTGTGT | G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00621.hp1 others(74): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0124 a0001c0001t0001g0152 a0001c0001t0001g0203 others(74): Show |
77 | 231 | 0.3333 | -6 | c.-28 others(27): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155680145 | GGTGTGT | G | intron_variant | MODIFIER | HG01496.hp2 HG02451.hp1 HG02922.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0036others(4): Show | a0001c0001t0002g0216 a0001c0001t0007g0099 a0001c0001t0036g0098 others(4): Show |
7 | 231 | 0.0303 | -6 | c.-28 others(27): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155755197 | AAAAGTG | A | intron_variant | MODIFIER | HG01891.hp2 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0010a0001c0001t0019others(1): Show | a0001c0001t0007g0084 a0001c0001t0010g0104 a0001c0001t0019g0208 others(1): Show |
4 | 231 | 0.0173 | -6 | c.-28 others(27): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155773307 | GATATAT | G | intron_variant | MODIFIER | HG02723.hp2 HG03834.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0001t0115a0001c0002t0029 | a0001c0001t0042g0070 a0001c0001t0115g0100 a0001c0002t0029g0121 |
3 | 231 | 0.0130 | -6 | c.-10 others(23): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRYD7_chr13_49907702_49941340 | 49929483 | GTTTTGT | G | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01109.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(9): Show |
21 | 380 | 0.0553 | -6 | c.224 others(23): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49934555 | CAAAAAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(2): Show |
9 | 380 | 0.0237 | -6 | c.106 others(23): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9292956 | CGCCGGG | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(363): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 others(360): Show |
366 | 370 | 0.9892 | -6 | c.-25 others(15): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/3 | 62920 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPSB1_chr1_9287894_9374532 | 9295217 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp1 HG03195.hp2 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0030 | a0001c0001t0005g0227 a0001c0001t0011g0224 a0001c0001t0011g0225 others(3): Show |
6 | 370 | 0.0162 | -6 | c.-15 others(25): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9325566 | GACAGTC | G | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02717.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0011a0001c0001t0023others(4): Show | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 others(13): Show |
16 | 370 | 0.0432 | -6 | c.-14 others(27): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9344669 | CTTCTTA | C | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0001t0006a0001c0001t0017others(3): Show | a0001c0001t0005g0101 a0001c0001t0005g0108 a0001c0001t0005g0146 others(12): Show |
15 | 370 | 0.0405 | -6 | c.-14 others(27): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9348937 | ATGTGTG | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(160): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(51): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(159): Show |
163 | 370 | 0.4405 | -6 | c.-14 others(25): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9360207 | AGGGTGG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(86): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0042 a0001c0001t0001g0060 a0001c0001t0002g0243 others(86): Show |
89 | 370 | 0.2405 | -6 | c.694 others(23): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB2_chr12_6865935_6878303 | 6867710 | CGGGCCG | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(33): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0003a0001c0003t0001a0003c0009t0001 | a0001c0001t0003g0003 a0001c0003t0001g0010 a0003c0009t0001g0019 |
36 | 398 | 0.0905 | -6 | c.*34 others(17): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 3224 | chr12 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141075892 | CAAAAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01109.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(21): Show | a0001c0001t0004g0038 a0001c0001t0004g0152 a0001c0001t0006g0158 others(39): Show |
43 | 254 | 0.1693 | -6 | c.694 others(23): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141151371 | TGTGTGC | T | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02970.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0019a0001c0001t0020a0001c0002t0014 | a0001c0001t0019g0012 a0001c0001t0020g0155 a0001c0001t0020g0156 others(1): Show |
4 | 254 | 0.0158 | -6 | c.*41 others(17): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2761 | chr3 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158611131 | GCACACA | G | 3_prime_UTR_variant | MODIFIER | HG01891.hp1 HG02970.hp2 NA18945.hp1 others(3): Show |
a0001a0005a0012 | a0001c0001a0005c0007a0012c0017 | a0001c0001t0043a0005c0007t0033a0012c0017t0023 | a0001c0001t0043g0145 a0005c0007t0033g0275 a0005c0007t0033g0278 others(1): Show |
6 | 370 | 0.0162 | -6 | c.*12 others(15): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 52/52 | 127 | chr1 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158686356 | TTAAAAG | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(90): Show |
a0001a0002a0003others(8): Show | a0001c0004a0001c0012a0002c0002others(11): Show | a0001c0004t0006a0001c0004t0009a0001c0012t0006others(23): Show | a0001c0004t0006g0190 a0001c0004t0006g0196 a0001c0004t0009g0245 others(80): Show |
93 | 370 | 0.2514 | -6 | c.24+ others(19): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 1/51 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128601558 | CAAATAA | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0018others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(10): Show | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0001g0001 others(110): Show |
113 | 312 | 0.3622 | -6 | c.357 others(25): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 27/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54481391 | AGTGTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0018a0001c0002t0001others(8): Show | a0001c0001t0002g0224 a0001c0001t0018g0180 a0001c0001t0018g0303 others(12): Show |
15 | 370 | 0.0405 | -6 | c.-48 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54529852 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp1 HG03654.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0005a0001c0003t0003a0001c0003t0009others(2): Show | a0001c0001t0005g0221 a0001c0003t0003g0262 a0001c0003t0009g0227 others(3): Show |
6 | 370 | 0.0162 | -6 | c.148 others(23): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54533349 | AGTGTGT | A | intron_variant | MODIFIER | HG00735.hp1 HG01071.hp2 HG01081.hp2 others(26): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0006a0001c0004t0002others(14): Show | a0001c0002t0001g0275 a0001c0002t0006g0313 a0001c0004t0002g0161 others(26): Show |
29 | 370 | 0.0784 | -6 | c.148 others(23): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54533900 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01168.hp1 others(66): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0010others(21): Show | a0001c0001t0004g0070 a0001c0001t0005g0221 a0001c0001t0010g0238 others(66): Show |
69 | 370 | 0.1865 | -6 | c.148 others(23): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54571570 | CACACAT | C | intron_variant | MODIFIER | HG01106.hp2 HG02717.hp2 HG02886.hp1 others(3): Show |
a0001a0005 | a0001c0003a0001c0005a0001c0009others(1): Show | a0001c0003t0003a0001c0005t0003a0001c0005t0043others(2): Show | a0001c0003t0003g0139 a0001c0005t0003g0004 a0001c0005t0003g0047 others(3): Show |
6 | 370 | 0.0162 | -6 | c.149 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54581577 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02615.hp2 others(13): Show |
a0001a0005 | a0001c0005a0001c0019a0005c0030 | a0001c0005t0003a0001c0005t0012a0001c0005t0025others(4): Show | a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 others(13): Show |
16 | 370 | 0.0432 | -6 | c.149 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54597866 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02615.hp2 others(4): Show |
a0001a0005 | a0001c0005a0001c0019a0005c0030 | a0001c0005t0003a0001c0005t0012a0001c0019t0012others(1): Show | a0001c0005t0003g0047 a0001c0005t0003g0191 a0001c0005t0012g0369 others(4): Show |
7 | 370 | 0.0189 | -6 | c.149 others(23): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54643982 | CAATAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(153): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0004others(33): Show | a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0002t0001g0009 others(153): Show |
156 | 370 | 0.4216 | -6 | c.400 others(23): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 19/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54673059 | GGTGTGT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(86): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(20): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(86): Show |
89 | 370 | 0.2405 | -6 | c.*44 others(17): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1614 | chr2 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40471905 | ATTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00642.hp1 others(30): Show |
a0004a0005a0008others(4): Show | a0004c0007a0004c0011a0004c0014others(12): Show | a0004c0007t0001a0004c0007t0003a0004c0007t0010others(15): Show | a0004c0007t0001g0004 a0004c0007t0001g0139 a0004c0007t0001g0140 others(30): Show |
33 | 234 | 0.1410 | -6 | c.-15 others(21): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40479675 | CATATAT | C | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02922.hp2 others(4): Show |
a0004a0005a0007others(1): Show | a0004c0014a0005c0009a0007c0044others(1): Show | a0004c0014t0001a0005c0009t0001a0007c0044t0001others(1): Show | a0004c0014t0001g0058 a0004c0014t0001g0146 a0005c0009t0001g0148 others(4): Show |
7 | 234 | 0.0299 | -6 | c.169 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40515934 | CATATAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01070.hp1 others(57): Show |
a0001a0002a0003others(6): Show | a0001c0008a0002c0003a0002c0004others(12): Show | a0001c0008t0001a0002c0003t0001a0002c0004t0001others(15): Show | a0001c0008t0001g0046 a0001c0008t0001g0060 a0001c0008t0001g0061 others(57): Show |
60 | 234 | 0.2564 | -6 | c.290 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40515937 | ATATACG | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01123.hp1 others(52): Show |
a0001a0002a0004others(7): Show | a0001c0002a0001c0010a0001c0048others(17): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(21): Show | a0001c0002t0001g0017 a0001c0002t0001g0022 a0001c0002t0001g0037 others(52): Show |
55 | 234 | 0.2350 | -6 | c.290 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 15/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40531464 | GTTTTTT | G | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03139.hp1 others(2): Show |
a0002 | a0002c0004a0002c0015a0002c0045 | a0002c0004t0001a0002c0015t0001a0002c0045t0001 | a0002c0004t0001g0095 a0002c0015t0001g0089 a0002c0015t0001g0135 others(2): Show |
5 | 234 | 0.0214 | -6 | c.394 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 18/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40540814 | CAAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG02055.hp1 others(12): Show |
a0001a0002a0003others(5): Show | a0001c0010a0002c0003a0002c0004others(8): Show | a0001c0010t0001a0002c0003t0001a0002c0004t0001others(8): Show | a0001c0010t0001g0070 a0002c0003t0001g0099 a0002c0003t0001g0182 others(12): Show |
15 | 234 | 0.0641 | -6 | c.435 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 20/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40569426 | CAAAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01257.hp2 HG01884.hp2 others(10): Show |
a0001a0004a0023 | a0001c0002a0001c0008a0001c0010others(2): Show | a0001c0002t0001a0001c0002t0005a0001c0008t0001others(3): Show | a0001c0002t0001g0086 a0001c0002t0005g0193 a0001c0008t0001g0060 others(10): Show |
13 | 234 | 0.0556 | -6 | c.695 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 31/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40569936 | CCACACA | C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02074.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0043 | a0001c0001t0001a0007c0043t0001 | a0001c0001t0001g0027 a0001c0001t0001g0053 a0001c0001t0001g0074 others(3): Show |
6 | 234 | 0.0256 | -6 | c.702 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40577948 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01070.hp2 others(23): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0003others(11): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0008others(13): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0087 others(23): Show |
26 | 234 | 0.1111 | -6 | c.*23 others(17): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 1485 | chr19 | TogoVar |