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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEH1L_chr18_12943011_12992531 | 12973190 | A | AAAAGATT | intron_variant | MODIFIER | HG00673.hp2 HG02027.hp1 HG02040.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0263 a0001c0001t0001g0264 others(6): Show |
9 | 386 | 0.0233 | 7 | c.620 others(24): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13848282 | A | AGGAGAAG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01943.hp2 NA18998.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0016a0003c0005 | a0001c0001t0001a0001c0016t0001a0003c0005t0002 | a0001c0001t0001g0104 a0001c0001t0001g0130 a0001c0016t0001g0216 others(1): Show |
4 | 187 | 0.0214 | 7 | c.*12 others(18): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 964 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13880870 | A | ACTTAGTG | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0218 a0001c0001t0001g0305 others(1): Show |
4 | 322 | 0.0124 | 7 | c.958 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 10/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934473 | T | TATATATA | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp1 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0200 others(2): Show |
5 | 258 | 0.0194 | 7 | c.115 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT | intron_variant | MODIFIER | HG02027.hp2 HG02622.hp1 NA18977.hp2 others(6): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0006 | a0001c0001t0001a0001c0011t0001a0004c0006t0001 | a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 others(6): Show |
9 | 256 | 0.0352 | 7 | c.115 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13947127 | G | GGATCCAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 others(293): Show |
297 | 322 | 0.9224 | 7 | c.114 others(24): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SELENOM_chr22_31099777_31112568 | 31102703 | G | GCCTGAGC | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0002g0007 |
6 | 376 | 0.0160 | 7 | c.*22 others(18): Show |
SELENOM | ENSG00000198832.11 | transcript | ENST00000400299.6 | protein_coding | 2073 | chr22 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25812564 | A | ACACACAC | intron_variant | MODIFIER | HG01358.hp2 HG02004.hp1 HG03688.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0089 a0001c0001t0001g0140 others(1): Show |
6 | 65 | 0.0923 | 7 | c.128 others(24): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 9/12 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS | chr1 | TogoVar | ||||||
SELENOW_chr19_47773703_47789682 | 47778820 | C | CGCAGCGG | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(235): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(46): Show |
238 | 404 | 0.5891 | 7 | c.29+ others(16): Show |
SELENOW | ENSG00000178980.16 | transcript | ENST00000601048.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980619 | A | ATATATAT | intron_variant | MODIFIER | HG02970.hp1 HG02976.hp2 NA19043.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0013a0001c0008t0013 | a0001c0003t0013g0086 a0001c0003t0013g0240 a0001c0008t0013g0084 |
3 | 162 | 0.0185 | 7 | c.165 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | AAAAATAT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp1 HG01069.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0092 a0001c0001t0007g0111 a0001c0001t0007g0134 others(6): Show |
9 | 91 | 0.0989 | 7 | c.165 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | AAATATAT | intron_variant | MODIFIER | HG02155.hp1 HG02622.hp1 HG02965.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0009a0001c0001t0010a0001c0003t0006others(2): Show | a0001c0001t0009g0244 a0001c0001t0010g0180 a0001c0003t0006g0161 others(7): Show |
10 | 92 | 0.1087 | 7 | c.165 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83980623 | A | ATATATAT | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0024a0001c0003t0006a0001c0004t0006 | a0001c0001t0024g0212 a0001c0003t0006g0014 a0001c0003t0006g0072 others(6): Show |
9 | 91 | 0.0989 | 7 | c.165 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83984572 | A | AGTGAGGC | intron_variant | MODIFIER | HG00544.hp2 HG01943.hp2 HG01978.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0028a0001c0002t0002a0001c0002t0038others(3): Show | a0001c0001t0028g0057 a0001c0002t0002g0018 a0001c0002t0002g0022 others(37): Show |
40 | 274 | 0.1460 | 7 | c.149 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 13/16 | chr7 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50280177 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(322): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(95): Show |
325 | 329 | 0.9878 | 7 | c.*34 others(18): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 2632 | chr3 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80815554 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG01099.hp1 HG01099.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(4): Show | a0001c0001t0002g0097 a0001c0002t0001g0087 a0001c0002t0001g0100 others(22): Show |
25 | 143 | 0.1748 | 7 | c.447 others(24): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 5/17 | chr7 | TogoVar | |||||||
SEMA3C_chr7_80737538_80924051 | 80911541 | G | GCACCATC | intron_variant | MODIFIER | HG00597.hp1 HG02129.hp1 NA18972.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0010 | a0001c0001t0001a0001c0003t0002a0002c0010t0001 | a0001c0001t0001g0035 a0001c0003t0002g0034 a0002c0010t0001g0033 |
3 | 242 | 0.0124 | 7 | c.103 others(24): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 2/17 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85126403 | T | TGTGTGTG | intron_variant | MODIFIER | HG01261.hp2 HG02040.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0115 a0001c0001t0011g0116 a0001c0001t0011g0117 |
3 | 107 | 0.0280 | 7 | c.-40 others(24): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85147092 | C | CTTTTCTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0006others(1): Show | a0001c0001t0001g0010 a0001c0001t0004g0239 a0002c0003t0006g0232 others(5): Show |
8 | 81 | 0.0988 | 7 | c.-41 others(24): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85147092 | C | CTTTTTTT | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 NA18612.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0047 | a0001c0001t0001g0065 a0001c0001t0001g0075 a0001c0001t0001g0113 others(2): Show |
5 | 78 | 0.0641 | 7 | c.-41 others(24): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83570552 | C | CAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00735.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(50): Show |
53 | 113 | 0.4690 | 7 | c.115 others(26): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4B_chr15_90196330_90234660 | 90222971 | T | TATATACA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(101): Show |
a0001a0003a0009 | a0001c0003a0001c0005a0001c0006others(7): Show | a0001c0003t0001a0001c0005t0003a0001c0005t0011others(11): Show | a0001c0003t0001g0054 a0001c0003t0001g0158 a0001c0003t0001g0159 others(68): Show |
104 | 404 | 0.2574 | 7 | c.862 others(22): Show |
SEMA4B | ENSG00000185033.15 | transcript | ENST00000411539.7 | protein_coding | 7/13 | chr15 | TogoVar | |||||||
SEMA4C_chr2_96854718_96875080 | 96872359 | C | CAAACAAA | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(5): Show |
9 | 271 | 0.0332 | 7 | c.-25 others(18): Show |
SEMA4C | ENSG00000168758.11 | transcript | ENST00000305476.10 | protein_coding | 2280 | chr2 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89440500 | T | TACCCTCC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(86): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0016 a0001c0001t0001g0103 a0001c0001t0002g0296 others(86): Show |
89 | 367 | 0.2425 | 7 | c.-24 others(28): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89450660 | G | GGAAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG03017.hp1 HG03239.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 a0001c0001t0003g0097 a0001c0001t0003g0099 others(2): Show |
5 | 223 | 0.0224 | 7 | c.-24 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89461123 | G | GAAAGAAA | intron_variant | MODIFIER | HG02622.hp2 HG02976.hp2 HG03486.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0231 a0001c0003t0005g0232 a0001c0003t0005g0234 |
3 | 368 | 0.0082 | 7 | c.-30 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89488352 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00738.hp1 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(1): Show | a0001c0001t0001g0203 a0001c0001t0001g0219 a0001c0001t0001g0221 others(4): Show |
7 | 79 | 0.0886 | 7 | c.-31 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9187100 | C | CTTTAACA | intron_variant | MODIFIER | HG00280.hp1 HG01884.hp2 HG02486.hp1 others(25): Show |
a0001a0004a0005 | a0001c0003a0001c0005a0001c0008others(5): Show | a0001c0003t0001a0001c0003t0005a0001c0003t0006others(20): Show | a0001c0003t0001g0027 a0001c0003t0005g0021 a0001c0003t0006g0047 others(25): Show |
28 | 132 | 0.2121 | 7 | c.127 others(26): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 11/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9473383 | T | TAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00642.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0002t0009a0001c0002t0047others(8): Show | a0001c0001t0011g0028 a0001c0002t0009g0003 a0001c0002t0047g0053 others(8): Show |
11 | 61 | 0.1803 | 7 | c.-17 others(28): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122997518 | T | TCTCCCCC | intron_variant | MODIFIER | HG00280.hp1 HG00621.hp2 HG00639.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0152 a0001c0001t0001g0158 others(11): Show |
14 | 247 | 0.0567 | 7 | c.-39 others(26): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 123030678 | C | CTCTCTCT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG02976.hp2 NA18977.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0255 a0002c0002t0002g0037 a0002c0002t0002g0237 |
3 | 276 | 0.0109 | 7 | c.-32 others(18): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 2916 | chr3 | TogoVar | |||||||
SEMA6D_chr15_47712505_47779228 | 47767943 | C | CTAACTCT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp2 others(138): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(50): Show | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0019 others(130): Show |
141 | 386 | 0.3653 | 7 | c.176 others(24): Show |
SEMA6D | ENSG00000137872.17 | transcript | ENST00000536845.7 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185587732 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01099.hp1 HG01261.hp1 others(36): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0007a0002c0002t0009a0002c0002t0012others(24): Show | a0002c0002t0007g0284 a0002c0002t0007g0312 a0002c0002t0007g0315 others(36): Show |
39 | 193 | 0.2021 | 7 | c.101 others(24): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185588050 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01109.hp1 HG01433.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0012a0002c0002t0013others(10): Show | a0002c0002t0009g0286 a0002c0002t0009g0296 a0002c0002t0009g0332 others(18): Show |
21 | 202 | 0.1040 | 7 | c.101 others(24): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185621156 | C | CAAAAAAA | intron_variant | MODIFIER | HG01433.hp1 HG02698.hp2 HG03654.hp2 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0009a0002c0002t0012others(10): Show | a0002c0002t0007g0309 a0002c0002t0009g0286 a0002c0002t0009g0332 others(11): Show |
14 | 222 | 0.0631 | 7 | c.144 others(24): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP2_chr3_185581295_185638551 | 185631495 | C | CCCTCCCT | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(54): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0112a0002c0002t0007a0002c0002t0009others(26): Show | a0001c0001t0112g0027 a0002c0002t0007g0284 a0002c0002t0007g0309 others(53): Show |
57 | 345 | 0.1652 | 7 | c.*16 others(18): Show |
SENP2 | ENSG00000163904.13 | transcript | ENST00000296257.10 | protein_coding | 17/17 | 1654 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SENP3_chr17_7556919_7576969 | 7569384 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(126): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0017 others(39): Show |
129 | 307 | 0.4202 | 7 | c.134 others(24): Show |
SENP3 | ENSG00000161956.14 | transcript | ENST00000321337.12 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SENP5_chr3_196862920_196939714 | 196898178 | T | TAAAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00609.hp2 others(90): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0003others(17): Show | a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0036 others(88): Show |
93 | 207 | 0.4493 | 7 | c.151 others(26): Show |
SENP5 | ENSG00000119231.11 | transcript | ENST00000323460.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SENP7_chr3_101319205_101518212 | 101380443 | C | CACACACA | intron_variant | MODIFIER | NA18939.hp1 NA18950.hp2 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0004g0194 |
3 | 367 | 0.0082 | 7 | c.678 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 6/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101380445 | C | CACACACA | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01192.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0192 a0001c0001t0001g0201 a0001c0001t0001g0206 others(20): Show |
23 | 160 | 0.1438 | 7 | c.678 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 6/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101380445 | C | CCCACACA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01167.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0188 a0001c0001t0001g0196 a0001c0001t0001g0199 others(26): Show |
29 | 166 | 0.1747 | 7 | c.678 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 6/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101402616 | C | CAAAAAAA | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG01952.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0228 others(18): Show |
21 | 35 | 0.6000 | 7 | c.483 others(24): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 5/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101443770 | A | AAGAATGC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(273): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(273): Show |
276 | 368 | 0.7500 | 7 | c.284 others(26): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 4/23 | chr3 | TogoVar | |||||||
SENP7_chr3_101319205_101518212 | 101510843 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp1 others(126): Show |
a0001a0005a0007 | a0001c0001a0001c0005a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 others(126): Show |
129 | 224 | 0.5759 | 7 | c.40+ others(22): Show |
SENP7 | ENSG00000138468.16 | transcript | ENST00000394095.7 | protein_coding | 1/23 | chr3 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109540798 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02647.hp1 HG02809.hp1 others(6): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0005a0001c0001t0006a0005c0004t0006 | a0001c0001t0005g0005 a0001c0001t0005g0092 a0001c0001t0006g0016 others(6): Show |
9 | 58 | 0.1552 | 7 | c.*35 others(18): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 2000 | chr2 | TogoVar | |||||||
SEPTIN10_chr2_109537799_109618966 | 109593409 | C | CTTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01255.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(30): Show |
33 | 220 | 0.1500 | 7 | c.31- others(20): Show |
SEPTIN10 | ENSG00000186522.15 | transcript | ENST00000397712.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
SEPTIN12_chr16_4772606_4793345 | 4781943 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG01069.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0112 a0001c0001t0001g0124 a0001c0001t0001g0144 others(26): Show |
54 | 195 | 0.2769 | 7 | c.726 others(24): Show |
SEPTIN12 | ENSG00000140623.14 | transcript | ENST00000268231.13 | protein_coding | 7/9 | chr16 | TogoVar | |||||||
SEPTIN1_chr16_30373135_30387561 | 30379640 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG01081.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0027 |
30 | 34 | 0.8824 | 7 | c.676 others(22): Show |
SEPTIN1 | ENSG00000180096.13 | transcript | ENST00000321367.8 | protein_coding | 7/10 | chr16 | TogoVar | |||||||
SEPTIN5_chr22_19709503_19728319 | 19712694 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01167.hp2 HG01256.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(5): Show |
20 | 41 | 0.4878 | 7 | c.-18 others(18): Show |
SEPTIN5 | ENSG00000184702.20 | transcript | ENST00000455784.7 | protein_coding | 1808 | chr22 | TogoVar | |||||||
SEPTIN7_chr7_35796057_35912110 | 35829128 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0078 others(28): Show |
31 | 161 | 0.1925 | 7 | c.62- others(22): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |