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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SELENOI_chr2_26341143_26400885 | 26398037 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(23): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0012 a0001c0002t0001g0013 others(21): Show |
26 | 334 | 0.0778 | 5 | c.*89 others(16): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 2153 | chr2 | TogoVar | |||||||
SELENON_chr1_25795193_25823221 | 25817213 | A | ATTTTG | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(200): Show |
314 | 392 | 0.8010 | 5 | c.*15 others(16): Show |
SELENON | ENSG00000162430.18 | transcript | ENST00000361547.7 | protein_coding | 13/13 | 1516 | WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS&INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SELENOS_chr15_101267191_101282485 | 101276414 | A | ATTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0023 a0001c0001t0005g0046 a0001c0001t0005g0048 others(1): Show |
6 | 448 | 0.0134 | 5 | c.211 others(20): Show |
SELENOS | ENSG00000131871.15 | transcript | ENST00000526049.6 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
SELENOV_chr19_39510139_39525675 | 39518286 | C | CAAAAA | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0142 a0001c0001t0001g0228 others(1): Show |
6 | 436 | 0.0138 | 5 | c.810 others(20): Show |
SELENOV | ENSG00000186838.15 | transcript | ENST00000335426.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SELE_chr1_169717640_169739079 | 169719290 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00597.hp2 others(48): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0003a0002c0011t0006 | a0002c0002t0003g0004 a0002c0002t0003g0011 a0002c0002t0003g0053 others(3): Show |
51 | 438 | 0.1164 | 5 | c.*52 others(16): Show |
SELE | ENSG00000007908.16 | transcript | ENST00000333360.12 | protein_coding | 3349 | chr1 | TogoVar | |||||||
SELE_chr1_169717640_169739079 | 169734686 | T | TTAAAA | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01168.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0006 a0004c0004t0004g0014 a0004c0004t0004g0071 |
18 | 438 | 0.0411 | 5 | c.-76 others(14): Show |
SELE | ENSG00000007908.16 | transcript | ENST00000333360.12 | protein_coding | 608 | chr1 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 83977850 | C | CTGAAG | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 NA20129.hp2 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0088 a0001c0003t0014g0089 a0001c0003t0014g0220 |
3 | 276 | 0.0109 | 5 | c.165 others(22): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 14/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84008490 | C | CAAAAA | intron_variant | MODIFIER | HG01258.hp2 HG01928.hp1 HG01978.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0106 others(20): Show |
23 | 276 | 0.0833 | 5 | c.996 others(20): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 9/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84102588 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp2 HG02155.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0055 a0001c0001t0001g0175 a0001c0001t0001g0254 others(11): Show |
14 | 276 | 0.0507 | 5 | c.453 others(22): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3A_chr7_83950777_84199789 | 84173559 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG02615.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0004a0001c0001t0009a0001c0001t0017others(4): Show | a0001c0001t0004g0008 a0001c0001t0009g0013 a0001c0001t0017g0007 others(4): Show |
7 | 276 | 0.0254 | 5 | c.112 others(24): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3B_chr3_50264147_50282546 | 50274034 | G | GTCAAC | frameshift_variant | HIGH | NA19001.hp2 | a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0044 | 1 | 390 | 0.0026 | 5 | c.111 others(14): Show |
p.Pro others(5): Show |
SEMA3B | ENSG00000012171.20 | transcript | ENST00000616701.5 | protein_coding | 10/17 | 1211/3184 | 1117/2250 | 373/749 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
SEMA3C_chr7_80737538_80924051 | 80744134 | A | ATAAAT | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(223): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0012 others(223): Show |
226 | 244 | 0.9262 | 5 | c.*75 others(14): Show |
SEMA3C | ENSG00000075223.14 | transcript | ENST00000265361.8 | protein_coding | 18/18 | 759 | chr7 | TogoVar | ||||||
SEMA3D_chr7_84990553_85192056 | 85110693 | T | TATCCG | intron_variant | MODIFIER | HG00738.hp2 HG02615.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0006a0001c0010 | a0001c0006t0019a0001c0006t0029a0001c0010t0004 | a0001c0006t0019g0186 a0001c0006t0019g0187 a0001c0006t0029g0138 others(1): Show |
4 | 266 | 0.0150 | 5 | c.151 others(24): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 3/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85126403 | T | TGTGTG | intron_variant | MODIFIER | HG02683.hp1 HG02970.hp2 HG03471.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0007a0003c0008 | a0001c0001t0032a0001c0001t0048a0002c0007t0018others(1): Show | a0001c0001t0032g0105 a0001c0001t0048g0266 a0002c0007t0018g0121 others(2): Show |
5 | 266 | 0.0188 | 5 | c.-40 others(22): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85147082 | T | TTTTTC | intron_variant | MODIFIER | HG00738.hp2 HG02258.hp2 HG02615.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0014a0001c0004t0031a0001c0006t0019others(2): Show | a0001c0001t0014g0087 a0001c0004t0031g0152 a0001c0006t0019g0186 others(3): Show |
6 | 266 | 0.0226 | 5 | c.-41 others(22): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3D_chr7_84990553_85192056 | 85147092 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00558.hp2 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0063 others(39): Show |
42 | 266 | 0.1579 | 5 | c.-41 others(22): Show |
SEMA3D | ENSG00000153993.14 | transcript | ENST00000284136.11 | protein_coding | 2/18 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83395773 | T | TCTTTC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(99): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0031others(41): Show | a0001c0001t0001g0088 a0001c0001t0001g0135 a0001c0001t0001g0138 others(99): Show |
102 | 226 | 0.4513 | 5 | c.145 others(22): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 12/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83456622 | A | ATTTAT | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00639.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0067others(33): Show | a0001c0001t0002g0147 a0001c0001t0004g0182 a0001c0001t0067g0066 others(49): Show |
52 | 226 | 0.2301 | 5 | c.456 others(22): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83459624 | G | GTTAAT | intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0082a0002c0004t0090 | a0001c0006t0082g0167 a0002c0004t0090g0176 |
2 | 226 | 0.0089 | 5 | c.456 others(22): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83531341 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02148.hp1 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0041a0001c0002t0005others(2): Show | a0001c0001t0003g0137 a0001c0001t0041g0009 a0001c0002t0005g0021 others(2): Show |
5 | 226 | 0.0221 | 5 | c.116 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83533554 | G | GATAAA | intron_variant | MODIFIER | HG01069.hp1 HG06807.hp1 NA18961.hp2 others(1): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0003t0002a0001c0003t0081others(1): Show | a0001c0003t0001g0114 a0001c0003t0002g0145 a0001c0003t0081g0129 others(1): Show |
4 | 226 | 0.0177 | 5 | c.116 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83545552 | G | GAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01071.hp1 others(43): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 others(43): Show |
46 | 226 | 0.2035 | 5 | c.116 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83553083 | C | CTTGCT | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01074.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0022a0001c0001t0023a0001c0001t0029others(13): Show | a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 others(27): Show |
30 | 226 | 0.1327 | 5 | c.116 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA3E_chr7_83358238_83654139 | 83574544 | G | GTATCT | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00609.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0029a0001c0001t0051a0001c0001t0052others(30): Show | a0001c0001t0029g0172 a0001c0001t0051g0046 a0001c0001t0052g0050 others(47): Show |
50 | 226 | 0.2212 | 5 | c.115 others(24): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
SEMA4A_chr1_156148585_156182744 | 156165907 | C | CTTTTT | intron_variant | MODIFIER | HG02027.hp1 HG02257.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0155 a0001c0002t0002g0089 a0001c0002t0002g0090 others(4): Show |
7 | 374 | 0.0187 | 5 | c.113 others(24): Show |
SEMA4A | ENSG00000196189.14 | transcript | ENST00000368285.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89418977 | G | GTGTAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp1 others(45): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(11): Show | a0001c0001t0001g0052 a0001c0001t0001g0077 a0001c0001t0001g0136 others(45): Show |
48 | 370 | 0.1297 | 5 | c.-24 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 2/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89469358 | A | AAACAT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(86): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0012others(19): Show | a0001c0001t0002g0291 a0001c0001t0002g0297 a0001c0001t0002g0325 others(86): Show |
89 | 370 | 0.2405 | 5 | c.-30 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89473850 | A | AAAAAC | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 HG03209.hp1 others(3): Show |
a0001a0004a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0031a0001c0003t0001a0001c0003t0015others(3): Show | a0001c0001t0031g0023 a0001c0003t0001g0021 a0001c0003t0015g0078 others(3): Show |
6 | 370 | 0.0162 | 5 | c.-30 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89478761 | C | CCCCCA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(95): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(26): Show | a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0002g0291 others(95): Show |
98 | 370 | 0.2649 | 5 | c.-31 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89478763 | T | TCCACC | intron_variant | MODIFIER | HG02004.hp2 HG02135.hp1 NA18612.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0077 a0001c0004t0004g0046 a0001c0004t0004g0047 |
3 | 370 | 0.0081 | 5 | c.-31 others(26): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA4D_chr9_89372235_89503113 | 89488352 | C | CTTTTT | intron_variant | MODIFIER | HG01515.hp2 HG01934.hp1 HG02148.hp1 others(9): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(4): Show | a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0227 others(9): Show |
12 | 370 | 0.0324 | 5 | c.-31 others(24): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9102632 | G | GAAATT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG01884.hp1 others(10): Show |
a0001a0005 | a0001c0001a0001c0010a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0076 a0001c0001t0002g0131 others(10): Show |
13 | 134 | 0.0970 | 5 | c.207 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 16/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9298183 | T | TGACTA | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp1 HG01243.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(19): Show | a0001c0001t0001g0076 a0001c0001t0003g0029 a0001c0001t0008g0111 others(20): Show |
23 | 134 | 0.1716 | 5 | c.270 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 5/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9304514 | C | CTAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(75): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(95): Show |
98 | 134 | 0.7313 | 5 | c.270 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 5/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353060 | G | GAAGGA | intron_variant | MODIFIER | HG00642.hp1 NA18960.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0060a0001c0005t0001 | a0001c0002t0060g0085 a0001c0005t0001g0052 |
2 | 134 | 0.0149 | 5 | c.125 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353184 | G | GGGAAA | intron_variant | MODIFIER | HG03098.hp1 HG03471.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0018a0001c0001t0035a0001c0002t0063others(1): Show | a0001c0001t0018g0098 a0001c0001t0035g0059 a0001c0002t0063g0100 others(1): Show |
4 | 134 | 0.0299 | 5 | c.125 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353189 | G | GGGAAA | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(31): Show | a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0003g0029 others(34): Show |
37 | 134 | 0.2761 | 5 | c.125 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353354 | G | GAAGGA | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG01884.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0013a0001c0001t0030a0001c0001t0033others(9): Show | a0001c0001t0013g0056 a0001c0001t0030g0032 a0001c0001t0033g0057 others(10): Show |
13 | 134 | 0.0970 | 5 | c.125 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9388469 | G | GAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0003t0012others(2): Show | a0001c0001t0003g0029 a0001c0001t0008g0122 a0001c0003t0012g0068 others(2): Show |
5 | 134 | 0.0373 | 5 | c.-77 others(22): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9426432 | T | TAAATA | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp2 HG01257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0013a0001c0001t0017a0001c0001t0054others(9): Show | a0001c0001t0013g0056 a0001c0001t0017g0091 a0001c0001t0054g0094 others(9): Show |
12 | 134 | 0.0896 | 5 | c.-78 others(24): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9473383 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00639.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(41): Show | a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0018 others(48): Show |
51 | 134 | 0.3806 | 5 | c.-17 others(26): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9473383 | T | TTAAAA | intron_variant | MODIFIER | NA19043.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0003 | a0001c0001t0008g0111 a0001c0003t0003g0031 |
2 | 134 | 0.0149 | 5 | c.-17 others(26): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9545510 | A | AGCGGC | intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0028a0001c0005t0001others(3): Show | a0001c0001t0001g0010 a0001c0001t0028g0006 a0001c0005t0001g0005 others(3): Show |
6 | 134 | 0.0448 | 5 | c.-17 others(20): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122932243 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01243.hp2 others(4): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0001c0001t0002a0009c0010t0002 | a0001c0001t0001g0204 a0001c0001t0001g0235 a0001c0001t0001g0245 others(4): Show |
7 | 290 | 0.0241 | 5 | c.475 others(22): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 122935686 | C | CTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01074.hp2 others(21): Show |
a0003a0004a0023others(1): Show | a0003c0003a0003c0025a0004c0008others(2): Show | a0003c0003t0004a0003c0003t0011a0003c0003t0012others(6): Show | a0003c0003t0004g0067 a0003c0003t0004g0078 a0003c0003t0004g0081 others(19): Show |
24 | 290 | 0.0828 | 5 | c.474 others(22): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 5/22 | chr3 | TogoVar | |||||||
SEMA5B_chr3_122904082_123032763 | 123030678 | C | CTCTCT | upstream_gene_variant | MODIFIER | HG02735.hp2 HG04115.hp2 NA19009.hp2 |
a0001a0002a0003 | a0001c0028a0002c0031a0003c0003 | a0001c0028t0002a0002c0031t0002a0003c0003t0014 | a0001c0028t0002g0251 a0002c0031t0002g0244 a0003c0003t0014g0001 |
3 | 290 | 0.0103 | 5 | c.-32 others(16): Show |
SEMA5B | ENSG00000082684.16 | transcript | ENST00000357599.8 | protein_coding | 2916 | chr3 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116448170 | T | TAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02258.hp1 HG02809.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0121 a0001c0001t0006g0141 a0001c0001t0006g0194 others(6): Show |
9 | 304 | 0.0296 | 5 | c.189 others(22): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 18/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116554814 | G | GGCCTC | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG01256.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0035 a0001c0001t0001g0092 a0001c0001t0001g0099 others(11): Show |
15 | 304 | 0.0493 | 5 | c.-39 others(24): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116579584 | C | CTTTCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01257.hp2 HG01258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0036 a0001c0001t0001g0126 a0001c0001t0001g0127 others(12): Show |
16 | 304 | 0.0526 | 5 | c.-54 others(16): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 4762 | chr5 | TogoVar | |||||||
SEMA6B_chr19_4537593_4564684 | 4549474 | G | GTATTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(281): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0002a0001c0004others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0027 others(229): Show |
284 | 440 | 0.6455 | 5 | c.127 others(22): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 12/16 | chr19 | TogoVar |