regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC6A3_chr5_1387794_1450440 | 1410482 | TCTTTGGT others(19): Show |
T | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0320 | 1 | 373 | 0.0027 | -26 | c.127 others(43): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 9/14 | chr5 | TogoVar | ||||||
SLC6A5_chr11_20594608_20664285 | 20608944 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp2 HG03540.hp2 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0005a0001c0004t0015g0297 | 3 | 354 | 0.0085 | -26 | c.985 others(43): Show |
SLC6A5 | ENSG00000165970.12 | transcript | ENST00000525748.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC6A5_chr11_20594608_20664285 | 20608946 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(38): Show |
a0001a0002a0018 | a0001c0004a0002c0002a0002c0008others(2): Show | a0001c0004t0001a0001c0004t0004a0002c0002t0001others(16): Show | a0001c0004t0001g0263a0001c0004t0001g0289a0001c0004t0004g0011others(37): Show | 41 | 354 | 0.1158 | -26 | c.985 others(43): Show |
SLC6A5 | ENSG00000165970.12 | transcript | ENST00000525748.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC6A5_chr11_20594608_20664285 | 20608948 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0066 | a0002c0002t0066g0299 | 1 | 354 | 0.0028 | -26 | c.985 others(43): Show |
SLC6A5 | ENSG00000165970.12 | transcript | ENST00000525748.6 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SLC6A6_chr3_14397606_14494349 | 14436531 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0039 | a0001c0001t0038g0354a0001c0001t0039g0022 | 2 | 376 | 0.0053 | -26 | c.-11 others(43): Show |
SLC6A6 | ENSG00000131389.18 | transcript | ENST00000622186.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SLC7A11_chr4_138159097_138247349 | 138237713 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0125 | 1 | 364 | 0.0028 | -26 | c.278 others(43): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A11_chr4_138159097_138247349 | 138237715 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02717.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0055a0001c0003t0056 | a0001c0001t0015g0129a0001c0003t0055g0127a0001c0003t0055g0128others(1): Show | 4 | 364 | 0.0110 | -26 | c.278 others(43): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A11_chr4_138159097_138247349 | 138237719 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0074 | 1 | 364 | 0.0028 | -26 | c.278 others(43): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A11_chr4_138159097_138247349 | 138237729 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0179 | a0001c0001t0179g0117 | 1 | 364 | 0.0028 | -26 | c.278 others(43): Show |
SLC7A11 | ENSG00000151012.13 | transcript | ENST00000280612.9 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
SLC7A5_chr16_87825023_87874507 | 87874212 | CACACATA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG01358.hp2 | a0006 | a0006c0012 | a0006c0012t0002 | a0006c0012t0002g0292 | 1 | 390 | 0.0026 | -26 | c.-48 others(37): Show |
SLC7A5 | ENSG00000103257.9 | transcript | ENST00000261622.5 | protein_coding | 4706 | chr16 | TogoVar | ||||||
SLC7A9_chr19_32825511_32874767 | 32835889 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG01258.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0003 | a0001c0001t0004g0218a0002c0002t0003g0112 | 2 | 404 | 0.0050 | -26 | c.122 others(45): Show |
SLC7A9 | ENSG00000021488.13 | transcript | ENST00000023064.9 | protein_coding | 11/12 | chr19 | TogoVar | ||||||
SLC7A9_chr19_32825511_32874767 | 32837490 | CTCAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(117): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0004a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0004t0001others(17): Show | a0001c0001t0001g0280a0001c0001t0005g0300a0001c0004t0001g0364others(107): Show | 120 | 404 | 0.2970 | -26 | c.122 others(45): Show |
SLC7A9 | ENSG00000021488.13 | transcript | ENST00000023064.9 | protein_coding | 11/12 | chr19 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40200198 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG03139.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0082a0001c0001t0084a0001c0001t0097 | a0001c0001t0082g0050a0001c0001t0084g0217a0001c0001t0097g0070 | 3 | 236 | 0.0127 | -26 | c.180 others(47): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
SLC8A1_chr2_40092270_40457090 | 40451694 | AGCGCGGA others(19): Show |
A | intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0159 | 1 | 236 | 0.0042 | -26 | c.-25 others(41): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
SLC8A2_chr19_47423017_47476893 | 47452427 | AGAGAGAG others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 1 | 316 | 0.0032 | -26 | c.134 others(45): Show |
SLC8A2 | ENSG00000118160.14 | transcript | ENST00000236877.11 | protein_coding | 3/9 | chr19 | TogoVar | ||||||
SLC9A2_chr2_102614553_102716355 | 102631995 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 344 | 0.0029 | -26 | c.289 others(45): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC9A2_chr2_102614553_102716355 | 102632095 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0204 | 1 | 344 | 0.0029 | -26 | c.289 others(45): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC9A3_chr5_465456_529449 | 515811 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0202 | 1 | 218 | 0.0046 | -26 | c.211 others(43): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 515893 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 218 | 0.0046 | -26 | c.211 others(43): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | ||||||
SLC9A5_chr16_67243979_67277191 | 67268658 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0113 | 2 | 204 | 0.0098 | -26 | c.221 others(45): Show |
SLC9A5 | ENSG00000135740.17 | transcript | ENST00000299798.16 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SLC9A8_chr20_49807828_49897242 | 49834177 | CTCTCTCT others(19): Show |
C | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 360 | 0.0028 | -26 | c.290 others(43): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SLC9A9_chr3_143260222_143853468 | 143732678 | TAGAGTCC others(19): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0013 | a0001c0013t0004 | a0001c0013t0004g0079 | 1 | 108 | 0.0093 | -26 | c.534 others(45): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
SLC9A9_chr3_143260222_143853468 | 143764994 | CCTTCCTT others(19): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0092 | 1 | 108 | 0.0093 | -26 | c.533 others(45): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 4/15 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112150769 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp2 others(28): Show |
a0001 | a0001c0002a0001c0006a0001c0017 | a0001c0002t0001a0001c0006t0001a0001c0017t0001 | a0001c0002t0001g0060a0001c0002t0001g0097a0001c0002t0001g0098others(28): Show | 31 | 372 | 0.0833 | -26 | c.352 others(45): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
SLC9C1_chr3_112135898_112299216 | 112150795 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(7): Show | a0001c0002a0002c0001a0003c0003others(7): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(11): Show | a0001c0002t0001g0128a0002c0001t0001g0005a0002c0001t0001g0014others(123): Show | 127 | 372 | 0.3414 | -26 | c.352 others(45): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 28/28 | chr3 | TogoVar | ||||||
SLCO1C1_chr12_20690332_20758386 | 20717648 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01255.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0002a0001c0013t0001 | a0001c0001t0001g0138a0001c0001t0001g0232a0001c0001t0001g0235others(5): Show | 8 | 296 | 0.0270 | -26 | c.775 others(41): Show |
SLCO1C1 | ENSG00000139155.9 | transcript | ENST00000266509.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLCO1C1_chr12_20690332_20758386 | 20724407 | GTGTGTAT others(19): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01255.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0002a0001c0013t0001 | a0001c0001t0001g0138a0001c0001t0001g0232a0001c0001t0001g0235others(5): Show | 8 | 296 | 0.0270 | -26 | c.118 others(45): Show |
SLCO1C1 | ENSG00000139155.9 | transcript | ENST00000266509.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLCO6A1_chr5_102366774_102504001 | 102460899 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 342 | 0.0029 | -26 | c.900 others(43): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
SLF1_chr5_94613669_94702621 | 94627585 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0345 | 1 | 364 | 0.0028 | -26 | c.1-1 others(39): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SLFN11_chr17_35345305_35378621 | 35378447 | GTATATAT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00741.hp2 others(36): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0007others(8): Show | a0001c0002t0001a0001c0002t0004a0001c0003t0001others(11): Show | a0001c0002t0001g0060a0001c0002t0001g0061a0001c0002t0001g0192others(25): Show | 39 | 466 | 0.0837 | -26 | c.-52 others(37): Show |
SLFN11 | ENSG00000172716.17 | transcript | ENST00000685675.1 | protein_coding | 4827 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35530408 | AGGAAGGA others(19): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0011 | a0011c0012 | a0011c0012t0054 | a0011c0012t0054g0006 | 1 | 360 | 0.0028 | -26 | c.-60 others(45): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35530415 | AAGGAAGG others(19): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02886.hp2 NA19007.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0004a0001c0001t0012a0003c0007t0145 | a0001c0001t0004g0197a0001c0001t0012g0214a0003c0007t0145g0169 | 3 | 360 | 0.0083 | -26 | c.-60 others(45): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLFN12L_chr17_35459254_35542678 | 35530417 | GGAAGGAA others(19): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp2 HG02056.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0005others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(6): Show | a0001c0001t0004g0192a0001c0001t0006g0196a0001c0001t0012g0193others(6): Show | 9 | 360 | 0.0250 | -26 | c.-60 others(45): Show |
SLFN12L | ENSG00000205045.12 | transcript | ENST00000628453.4 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SLIT1_chr10_96993038_97190959 | 97186267 | TACACACA others(19): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0046 | 1 | 256 | 0.0039 | -26 | c.-61 others(35): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 309 | chr10 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291472 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02055.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0074a0001c0001t0003g0101a0001c0001t0005g0163others(1): Show | 4 | 230 | 0.0174 | -26 | c.395 others(45): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20291474 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0015 | a0001c0001t0001a0001c0001t0005a0001c0001t0047others(4): Show | a0001c0001t0001g0036a0001c0001t0001g0122a0001c0001t0005g0119others(7): Show | 10 | 230 | 0.0435 | -26 | c.395 others(45): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT2_chr4_20246905_20625561 | 20443639 | TTTATAAC others(19): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02717.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0016 | a0001c0001t0027g0033a0001c0002t0016g0126 | 2 | 230 | 0.0087 | -26 | c.396 others(45): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SLIT3_chr5_168656740_169306139 | 168718677 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG03579.hp2 others(2): Show |
a0001a0002a0015 | a0001c0004a0001c0052a0002c0002others(1): Show | a0001c0004t0005a0001c0052t0005a0002c0002t0005others(2): Show | a0001c0004t0005g0008a0001c0052t0005g0088a0002c0002t0005g0082others(2): Show | 5 | 132 | 0.0379 | -26 | c.248 others(45): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 23/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169015961 | CACACACA others(19): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02129.hp2 HG03834.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0001a0001c0003t0004a0001c0009t0001others(3): Show | a0001c0001t0001g0081a0001c0003t0004g0045a0001c0009t0001g0058others(3): Show | 6 | 132 | 0.0455 | -26 | c.414 others(47): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169189527 | GATATATA others(19): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp2 HG01993.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0003a0001c0003t0004a0001c0006t0002others(7): Show | a0001c0001t0003g0122a0001c0003t0004g0045a0001c0006t0002g0039others(8): Show | 11 | 132 | 0.0833 | -26 | c.413 others(43): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | ||||||
SMAD3_chr15_67060602_67200169 | 67160770 | CAAAAAAA others(19): Show |
C | intron_variant | MODIFIER | HG03139.hp1 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0028 | a0001c0001t0001g0168a0001c0001t0028g0289 | 2 | 310 | 0.0065 | -26 | c.207 others(43): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SMAGP_chr12_51239558_51275415 | 51248428 | ACACACAC others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0327 | 1 | 410 | 0.0024 | -26 | c.35- others(41): Show |
SMAGP | ENSG00000170545.17 | transcript | ENST00000603798.6 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2155720 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0040a0002c0005others(7): Show | a0001c0003t0002a0001c0003t0005a0001c0040t0001others(9): Show | a0001c0003t0002g0277a0001c0003t0005g0128a0001c0040t0001g0019others(10): Show | 13 | 316 | 0.0411 | -26 | c.398 others(45): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMC5_chr9_70253978_70359873 | 70349414 | CATAGAAG others(19): Show |
C | intron_variant | MODIFIER | NA18987.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0026 | 1 | 366 | 0.0027 | -26 | c.289 others(43): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SMCHD1_chr18_2650726_2810017 | 2661544 | GTGGGTTT others(19): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 HG03130.hp1 others(1): Show |
a0001a0002 | a0001c0015a0002c0026 | a0001c0015t0014a0001c0015t0030a0002c0026t0001 | a0001c0015t0014g0304a0001c0015t0014g0305a0001c0015t0030g0306others(1): Show | 4 | 340 | 0.0118 | -26 | c.187 others(43): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
SMCO1_chr3_196501879_196520346 | 196515988 | GATATATA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 NA18612.hp1 NA18945.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016others(2): Show | 13 | 398 | 0.0327 | -26 | c.-80 others(35): Show |
SMCO1 | ENSG00000214097.5 | transcript | ENST00000397537.3 | protein_coding | 643 | chr3 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93534213 | TATACACA others(19): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(115): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(95): Show | 118 | 412 | 0.2864 | -26 | c.-15 others(45): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMCO4_chr11_93473472_93548391 | 93534215 | TACACACA others(19): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02280.hp2 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0025 | a0001c0001t0002g0101a0001c0001t0002g0259a0001c0001t0003g0323others(2): Show | 5 | 412 | 0.0121 | -26 | c.-15 others(45): Show |
SMCO4 | ENSG00000166002.7 | transcript | ENST00000298966.7 | protein_coding | 1/2 | chr11 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39576672 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0302 | 1 | 344 | 0.0029 | -26 | c.76- others(41): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar | ||||||
SMIM14_chr4_39541336_39643865 | 39576674 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 344 | 0.0029 | -26 | c.76- others(41): Show |
SMIM14 | ENSG00000163683.12 | transcript | ENST00000295958.10 | protein_coding | 2/4 | chr4 | TogoVar |