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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPS6KA6_chrX_84053350_84193199 | 84191645 | TATATATA others(89): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01934.hp1 HG02717.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0011others(4): Show | a0001c0001t0002g0010a0001c0001t0005g0174a0001c0001t0005g0176others(5): Show | 8 | 272 | 0.0294 | -96 | c.-38 others(107): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3447 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191867 | TATATATA others(89): Show |
T | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0240 | 1 | 272 | 0.0037 | -96 | c.-40 others(107): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3669 | chrX | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80665410 | TTCCTTTC others(89): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG03041.hp2 |
a0001a0002 | a0001c0007a0002c0063 | a0001c0007t0084a0002c0063t0020 | a0001c0007t0084g0007a0002c0063t0020g0001 | 2 | 196 | 0.0102 | -96 | c.348 others(115): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 3/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RTL4_chrX_112078016_112462514 | 112236398 | AATATAGA others(89): Show |
A | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001 | 1 | 134 | 0.0075 | -96 | c.-44 others(117): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
S1PR4_chr19_3173769_3185332 | 3174307 | CCTCATGG others(89): Show |
C | upstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 418 | 0.0072 | -96 | c.-44 others(107): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4461 | chr19 | TogoVar | ||||||
S1PR4_chr19_3173769_3185332 | 3175297 | ACCTGTGT others(89): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 418 | 0.0048 | -96 | c.-34 others(107): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 3471 | chr19 | TogoVar | ||||||
SAMHD1_chr20_36885229_36956708 | 36912903 | TTTTTTTT others(89): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02895.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0034a0001c0004t0034 | a0001c0001t0034g0014a0001c0004t0034g0015 | 2 | 340 | 0.0059 | -96 | c.106 others(113): Show |
SAMHD1 | ENSG00000101347.11 | transcript | ENST00000646673.2 | protein_coding | 9/15 | chr20 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669029 | CTCACCTT others(89): Show |
C | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 262 | 0.0038 | -96 | c.249 others(115): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990994 | CTCTTTCT others(89): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0038a0001c0001t0001g0204 | 3 | 370 | 0.0081 | -96 | c.-47 others(107): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4568 | chr15 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159626091 | TAGATAGA others(89): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02723.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0046others(2): Show | 5 | 100 | 0.0500 | -96 | c.64- others(115): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1288605 | TCCCCCGT others(89): Show |
T | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 290 | 0.0035 | -96 | c.166 others(113): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289261 | TCCCCCGT others(89): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 290 | 0.0035 | -96 | c.166 others(114): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCNN1D_chr1_1275436_1297025 | 1289375 | TCCCGTGT others(89): Show |
T | intron_variant | MODIFIER | HG01496.hp1 | a0006 | a0006c0010 | a0006c0010t0007 | a0006c0010t0007g0274 | 1 | 290 | 0.0035 | -96 | c.166 others(113): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43280833 | CCCTCTTT others(89): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02027.hp1 NA18948.hp1 others(5): Show |
a0001a0002a0003 | a0001c0008a0001c0013a0002c0002others(2): Show | a0001c0008t0009a0001c0013t0004a0002c0002t0002others(2): Show | a0001c0008t0009g0115a0001c0013t0004g0116a0002c0002t0002g0080others(5): Show | 8 | 280 | 0.0286 | -96 | c.484 others(115): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43280954 | CCCTCTTT others(89): Show |
C | intron_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0117 | 1 | 280 | 0.0036 | -96 | c.484 others(114): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43281392 | AGCTATCC others(89): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 | 1 | 280 | 0.0036 | -96 | c.484 others(113): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259282 | GAGCATTA others(89): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01943.hp2 HG02148.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0001c0001t0005a0005c0006t0002 | a0001c0001t0002g0004a0001c0001t0002g0060a0001c0001t0002g0069others(5): Show | 10 | 266 | 0.0376 | -96 | c.*28 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2201 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259665 | AGAGCATT others(89): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01496.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117a0001c0002t0001g0152 | 2 | 266 | 0.0075 | -96 | c.*32 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2584 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259919 | TCAGAGCA others(89): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01256.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0090a0001c0001t0003g0091others(2): Show | 6 | 266 | 0.0226 | -96 | c.*35 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2838 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 259983 | CCAGAGCA others(89): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 266 | 0.0038 | -96 | c.*35 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 2902 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260401 | GAGCATTA others(89): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 266 | 0.0038 | -96 | c.*39 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3320 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 260593 | CAGCATTA others(89): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0139 | 1 | 266 | 0.0038 | -96 | c.*41 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3512 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261265 | CAGCATTA others(89): Show |
C | downstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0100 | 1 | 266 | 0.0038 | -96 | c.*48 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4184 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261425 | GAGCATTA others(89): Show |
G | downstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 266 | 0.0038 | -96 | c.*50 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4344 | chr5 | TogoVar | ||||||
SDHA_chr5_213320_262082 | 261617 | CAGCATTA others(89): Show |
C | downstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 266 | 0.0038 | -96 | c.*51 others(107): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4536 | chr5 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83390158 | CATATATG others(89): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp1 HG02886.hp2 others(3): Show |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0006a0001c0005t0015a0001c0005t0021others(3): Show | a0001c0005t0006g0048a0001c0005t0015g0202a0001c0005t0021g0074others(3): Show | 6 | 226 | 0.0266 | -96 | c.166 others(115): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | ||||||
SEMA3E_chr7_83358238_83654139 | 83390174 | CGTGTGCA others(89): Show |
C | intron_variant | MODIFIER | HG03579.hp2 NA18906.hp2 |
a0001 | a0001c0010 | a0001c0010t0058a0001c0010t0059 | a0001c0010t0058g0060a0001c0010t0059g0059 | 2 | 226 | 0.0089 | -96 | c.166 others(115): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 14/16 | chr7 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89404898 | GCCTCAGC others(89): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(125): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0048others(125): Show | 128 | 370 | 0.3460 | -96 | c.106 others(111): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 3/15 | chr9 | TogoVar | ||||||
SEMA4D_chr9_89372235_89503113 | 89471708 | GCTGGCTC others(89): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0018a0001c0001t0001g0182a0001c0001t0002g0291others(133): Show | 136 | 370 | 0.3676 | -96 | c.-30 others(117): Show |
SEMA4D | ENSG00000187764.12 | transcript | ENST00000422704.7 | protein_coding | 1/15 | chr9 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14702829 | ATAGATAG others(89): Show |
A | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0007 | 1 | 102 | 0.0098 | -96 | c.40- others(115): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272568 | TTACAAAA others(89): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02280.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0007a0001c0002t0001others(4): Show | a0001c0001t0004g0214a0001c0001t0004g0333a0001c0001t0007g0073others(9): Show | 12 | 376 | 0.0319 | -96 | c.331 others(113): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272600 | TTACAAAA others(89): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0015others(1): Show | a0001c0001t0004g0003a0001c0001t0004g0194a0001c0001t0004g0335others(9): Show | 13 | 376 | 0.0346 | -96 | c.331 others(113): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | ||||||
SHTN1_chr10_116876477_117010187 | 116946485 | TTTTATAT others(89): Show |
T | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 292 | 0.0034 | -96 | c.617 others(113): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 7/16 | chr10 | TogoVar | ||||||
SIL1_chr5_138941724_139203368 | 139199502 | AAGCTGAC others(89): Show |
A | upstream_gene_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0175 | 1 | 200 | 0.0050 | -96 | c.-13 others(107): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 1135 | chr5 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1070131 | GCCCCCAG others(89): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0077 | 1 | 118 | 0.0085 | -96 | c.224 others(115): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | ||||||
SLC16A7_chr12_59591029_59794841 | 59611686 | AGCAAGTT others(89): Show |
A | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 260 | 0.0039 | -96 | c.-13 others(117): Show |
SLC16A7 | ENSG00000118596.12 | transcript | ENST00000547379.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SLC26A3_chr7_107760469_107808223 | 107770153 | CTTTTTTT others(89): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135a0001c0001t0001g0147a0001c0001t0001g0399 | 3 | 436 | 0.0069 | -96 | c.206 others(115): Show |
SLC26A3 | ENSG00000091138.13 | transcript | ENST00000340010.10 | protein_coding | 18/20 | chr7 | TogoVar | ||||||
SLC39A14_chr8_22362278_22427736 | 22396443 | AGAGAGGG others(89): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02132.hp2 others(2): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0004a0001c0003t0010a0002c0006t0002others(1): Show | a0001c0003t0004g0322a0001c0003t0010g0032a0001c0003t0010g0248others(2): Show | 5 | 324 | 0.0154 | -96 | c.-15 others(113): Show |
SLC39A14 | ENSG00000104635.15 | transcript | ENST00000359741.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SMAD2_chr18_47803957_47935659 | 47850753 | ATATATAT others(89): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0206a0001c0001t0207 | a0001c0001t0206g0117a0001c0001t0207g0118 | 2 | 310 | 0.0065 | -96 | c.784 others(111): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 7/10 | chr18 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168256 | GAAAGAAA others(89): Show |
G | upstream_gene_variant | MODIFIER | HG02165.hp1 NA18970.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0000a0001c0002t0011g0000 | 2 | 397 | 0.0050 | -96 | c.-31 others(107): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2937 | chr12 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245974465 | TAAAGCCA others(89): Show |
T | intron_variant | MODIFIER | HG02165.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0059 | 2 | 150 | 0.0133 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245974893 | CAGGGAAA others(89): Show |
C | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0048 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245974917 | CAGGGAAA others(89): Show |
C | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975133 | TAGGGAAA others(89): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0095 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975181 | TAGGGAAA others(89): Show |
T | intron_variant | MODIFIER | HG02056.hp2 HG02071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081a0001c0001t0002g0087 | 2 | 150 | 0.0133 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975344 | CGGCCCAG others(89): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975487 | CCGGCCCA others(89): Show |
C | intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975565 | TAGGGAAA others(89): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0017 | 2 | 150 | 0.0133 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975973 | CAGGGAAA others(89): Show |
C | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 150 | 0.0067 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976333 | CAGGGAAA others(89): Show |
C | intron_variant | MODIFIER | HG02965.hp2 NA19240.hp2 |
a0001a0002 | a0001c0006a0002c0005 | a0001c0006t0001a0002c0005t0002 | a0001c0006t0001g0035a0002c0005t0002g0106 | 2 | 150 | 0.0133 | -96 | c.532 others(115): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar |