| view | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| TRIM67_chr1_231157058_231226565 | 231184145 | GAGACTCA others(2097): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0006 | a0001c0004a0006c0025 | a0001c0004t0010a0006c0025t0010 | a0001c0004t0010g0007a0001c0004t0010g0013a0001c0004t0010g0014others(3): Show | 6 | 354 | 0.0170 | -2104 | c.104 others(21): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FANCM_chr14_45130930_45205890 | 45141836 | GCCTCAGC others(2096): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0140a0011c0014t0001g0141 | 2 | 238 | 0.0084 | -2103 | c.759 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(2093): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(12): Show |
a0000a0001a0002others(2): Show | a0000c0007a0000c0030a0000c0039others(5): Show | a0000c0007t0001a0000c0030t0001a0000c0039t0001others(5): Show | a0000c0007t0001g0033a0000c0007t0001g0034a0000c0007t0001g0043others(12): Show | 15 | 185 | 0.0811 | -2100 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408156 | GCAACACT others(2093): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0085a0001c0008t0001g0154 | 2 | 185 | 0.0108 | -2100 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| C1QTNF1_chr17_79019169_79054788 | 79052690 | AAGGTCAG others(2091): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0014a0001c0005t0028 | a0001c0003t0014g0245a0001c0003t0014g0247a0001c0005t0028g0229 | 3 | 392 | 0.0077 | -2098 | c.*46 others(11): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 2903 | chr17 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 435700 | CTTTGCAC others(2091): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18964.hp2 NA18990.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0277a0001c0001t0001g0278a0001c0001t0001g0279others(3): Show | 6 | 295 | 0.0203 | -2098 | c.714 others(18): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1076432 | CCGGGAGG others(2091): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 324 | 0.0031 | -2098 | c.-45 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2127 | chr1 | TogoVar | |||||||
| IGLL5_chr22_22882816_22901111 | 22899016 | CAACATGA others(2088): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 302 | 0.0033 | -2095 | c.*33 others(11): Show |
IGLL5 | ENSG00000254709.8 | transcript | ENST00000526893.6 | protein_coding | 2906 | chr22 | TogoVar | |||||||
| DDX17_chr22_38478438_38511311 | 38509217 | ACAAGAAA others(2087): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0117 | 1 | 364 | 0.0028 | -2094 | c.-50 others(11): Show |
DDX17 | ENSG00000100201.23 | transcript | ENST00000403230.3 | protein_coding | 2907 | chr22 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805556 | ACCCTCCC others(2087): Show |
A | downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 314 | 0.0032 | -2094 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1369490 | CCTCCAGC others(2087): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0008 | a0008c0009 | a0008c0009t0012 | a0008c0009t0012g0041 | 1 | 115 | 0.0087 | -2094 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MAMDC2_chr9_70038848_70231972 | 70146890 | ACGCCACT others(2087): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG00741.hp2 others(31): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0012 | a0001c0001t0004a0001c0001t0006a0003c0004t0003others(2): Show | a0001c0001t0004g0013a0001c0001t0004g0016a0001c0001t0004g0017others(31): Show | 34 | 340 | 0.1000 | -2094 | c.140 others(19): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805556 | ACCCTCCC others(2087): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 319 | 0.0031 | -2094 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3636 | chr2 | TogoVar | |||||||
| ABCB5_chr7_20610667_20762008 | 20667651 | GGAAAATA others(2085): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG03688.hp1 others(5): Show |
a0008a0012a0016others(4): Show | a0008c0009a0012c0013a0016c0021others(4): Show | a0008c0009t0002a0012c0013t0001a0016c0021t0014others(5): Show | a0008c0009t0002g0215a0012c0013t0001g0101a0016c0021t0014g0105others(5): Show | 8 | 360 | 0.0222 | -2092 | c.170 others(20): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805322 | ACCTTCCC others(2084): Show |
A | downstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 314 | 0.0032 | -2091 | c.*11 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1036 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805322 | ACCTTCCC others(2084): Show |
A | upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 319 | 0.0031 | -2091 | c.-39 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3870 | chr2 | TogoVar | |||||||
| AK5_chr1_77277019_77564966 | 77364928 | GTTTTTGA others(2082): Show |
G | intron_variant | MODIFIER | NA18963.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0276 | 1 | 284 | 0.0035 | -2089 | c.891 others(19): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DNAJC11_chr1_6629170_6706816 | 6647256 | TATTTTTA others(2081): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0033 | 1 | 366 | 0.0027 | -2088 | c.704 others(17): Show |
DNAJC11 | ENSG00000007923.17 | transcript | ENST00000377577.10 | protein_coding | 7/15 | chr1 | TogoVar | |||||||
| USP54_chr10_73492538_73596342 | 73568424 | TCATCCAC others(2080): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 196 | 0.0051 | -2087 | c.240 others(16): Show |
USP54 | ENSG00000166348.20 | transcript | ENST00000687698.1 | protein_coding | 4/23 | chr10 | TogoVar | |||||||
| R3HDM2_chr12_57248764_57436043 | 57353111 | CAGAAAAA others(2077): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03704.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0003a0001c0002t0002g0101 | 2 | 336 | 0.0060 | -2084 | c.-36 others(19): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
| DIO1_chr1_53889187_53916086 | 53901974 | CATACCTA others(2076): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 HG02615.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0007 | a0001c0002t0001g0056a0001c0002t0001g0058a0001c0002t0004g0055others(2): Show | 5 | 452 | 0.0111 | -2083 | c.338 others(16): Show |
DIO1 | ENSG00000211452.12 | transcript | ENST00000361921.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FAM234A_chr16_229821_271096 | 244879 | ATGGGGTT others(2076): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0378 | 1 | 408 | 0.0025 | -2083 | c.-13 others(19): Show |
FAM234A | ENSG00000167930.17 | transcript | ENST00000399932.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| FAM149A_chr4_186099704_186180337 | 186173520 | ATTTTTTT others(2075): Show |
A | splice_region_variant | LOW | HG01167.hp2 HG01256.hp1 HG01258.hp2 others(21): Show |
a0002a0006a0007others(1): Show | a0002c0007a0006c0009a0006c0029others(5): Show | a0002c0007t0013a0006c0009t0008a0006c0009t0013others(11): Show | a0002c0007t0013g0268a0006c0009t0008g0002a0006c0009t0013g0029others(20): Show | 24 | 390 | 0.0615 | -2082 | c.*15 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
| DIABLO_chr12_122202668_122231052 | 122212905 | GTGAGCCA others(2073): Show |
G | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 380 | 0.0026 | -2080 | c.523 others(17): Show |
DIABLO | ENSG00000184047.21 | transcript | ENST00000464942.7 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
| SNTG2_chr2_945849_1372613 | 1106744 | ATGGACAC others(2073): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 |
a0006a0009 | a0006c0010a0009c0013 | a0006c0010t0001a0009c0013t0001 | a0006c0010t0001g0043a0009c0013t0001g0042 | 2 | 190 | 0.0105 | -2080 | c.325 others(18): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| STXBP1_chr9_127607277_127697699 | 127619645 | CTACGCCC others(2073): Show |
C | intron_variant | MODIFIER | HG03225.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138a0001c0001t0001g0139 | 2 | 300 | 0.0067 | -2080 | c.37+ others(15): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| FAM20A_chr17_68530116_68606367 | 68567006 | TTTTTTCT others(2072): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0198a0002c0002t0001g0199 | 2 | 380 | 0.0053 | -2079 | c.405 others(19): Show |
FAM20A | ENSG00000108950.12 | transcript | ENST00000592554.2 | protein_coding | 1/10 | chr17 | TogoVar | |||||||
| SDK1_chr7_3296252_4274000 | 4118605 | GTCTACAC others(2072): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02451.hp1 HG02602.hp1 others(6): Show |
a0001a0002a0011others(2): Show | a0001c0005a0001c0037a0001c0038others(5): Show | a0001c0005t0001a0001c0005t0051a0001c0037t0002others(6): Show | a0001c0005t0001g0023a0001c0005t0051g0030a0001c0037t0002g0077others(6): Show | 9 | 116 | 0.0776 | -2079 | c.382 others(19): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3090743 | TGCACCTA others(2070): Show |
T | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0125 | 1 | 340 | 0.0029 | -2077 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320188 | TCAGAGAT others(2067): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03041.hp1 HG06807.hp1 |
a0003a0016 | a0003c0134a0003c0135a0016c0100 | a0003c0134t0001a0003c0135t0001a0016c0100t0004 | a0003c0134t0001g0217a0003c0135t0001g0173a0016c0100t0004g0054 | 3 | 256 | 0.0117 | -2074 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4265367 | TTTGACAT others(2066): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(31): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0061others(30): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(31): Show | 34 | 126 | 0.2698 | -2073 | c.415 others(21): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
| PRKCZ_chr1_2045411_2190395 | 2121830 | GTGGTAGT others(2065): Show |
G | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0225 | 1 | 286 | 0.0035 | -2072 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
| ARSB_chr5_78772209_78990310 | 78813976 | AACAGTCT others(2064): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00738.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0018others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0031others(10): Show | a0001c0001t0003g0021a0001c0001t0007g0115a0001c0001t0031g0324others(14): Show | 17 | 360 | 0.0472 | -2071 | c.121 others(21): Show |
ARSB | ENSG00000113273.17 | transcript | ENST00000264914.10 | protein_coding | 6/7 | chr5 | TogoVar | |||||||
| CFAP92_chr3_128904873_128999076 | 128944223 | GCACCTGG others(2064): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG03239.hp2 | a0009 | a0009c0026 | a0009c0026t0001 | a0009c0026t0001g0296 | 1 | 342 | 0.0029 | -2071 | c.135 others(17): Show |
CFAP92 | ENSG00000114656.13 | transcript | ENST00000645291.3 | protein_coding | 10/16 | chr3 | TogoVar | |||||||
| ZNF563_chr19_12312477_12338633 | 12313393 | CCTCAATT others(2064): Show |
C | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18963.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0139 | 3 | 368 | 0.0082 | -2071 | c.*31 others(11): Show |
ZNF563 | ENSG00000188868.14 | transcript | ENST00000293725.10 | protein_coding | 4083 | chr19 | TogoVar | |||||||
| USP6NL_chr10_11455510_11616650 | 11478400 | GAAGAAAA others(2062): Show |
G | intron_variant | MODIFIER | NA18986.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0049 | 2 | 402 | 0.0050 | -2069 | c.107 others(19): Show |
USP6NL | ENSG00000148429.15 | transcript | ENST00000609104.6 | protein_coding | 14/14 | chr10 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1235544 | CTCTCCCT others(2061): Show |
C | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005 | 1 | 106 | 0.0094 | -2068 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| RPTOR_chr17_80539838_80971368 | 80722496 | AGCCGGAG others(2059): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0005a0001c0009a0001c0021 | a0001c0005t0083a0001c0009t0006a0001c0021t0065 | a0001c0005t0083g0017a0001c0009t0006g0142a0001c0021t0065g0112 | 3 | 196 | 0.0153 | -2066 | c.508 others(17): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 4/33 | chr17 | TogoVar | |||||||
| AMN1_chr12_31666142_31734021 | 31675060 | ATGCTCAT others(2058): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0277a0001c0002t0001g0325a0001c0002t0007g0278others(1): Show | 4 | 432 | 0.0093 | -2065 | c.704 others(17): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | |||||||
| ETFBKMT_chr12_31654688_31678114 | 31675060 | ATGCTCAT others(2058): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02895.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0023a0003c0003t0024 | a0003c0003t0023g0084a0003c0003t0023g0096a0003c0003t0024g0068others(1): Show | 4 | 452 | 0.0089 | -2065 | c.*70 others(11): Show |
ETFBKMT | ENSG00000139160.13 | transcript | ENST00000357721.3 | protein_coding | 1947 | chr12 | TogoVar | |||||||
| STK33_chr11_8386870_8599228 | 8422993 | ACCATGCC others(2058): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0183a0001c0002t0001g0184 | 2 | 334 | 0.0060 | -2065 | c.114 others(20): Show |
STK33 | ENSG00000130413.16 | transcript | ENST00000687296.1 | protein_coding | 14/15 | chr11 | TogoVar | |||||||
| DPH7_chr9_137549444_137583925 | 137565308 | ACTGTCTG others(2057): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG03130.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0174a0001c0001t0001g0212a0001c0006t0001g0175 | 3 | 340 | 0.0088 | -2064 | c.641 others(16): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
| FAM149A_chr4_186099704_186180337 | 186173611 | CCTCCCAA others(2057): Show |
C | splice_region_variant | LOW | NA18970.hp2 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0126 | 1 | 390 | 0.0026 | -2064 | c.*16 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 14/14 | chr4 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79919548 | ACAGGAAC others(2057): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0293 | 1 | 352 | 0.0028 | -2064 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| SLC66A2_chr18_79897420_79956653 | 79919549 | CAGGAACC others(2057): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0294 | 1 | 352 | 0.0028 | -2064 | c.392 others(16): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 4/5 | chr18 | TogoVar | |||||||
| LBP_chr20_38341482_38382013 | 38379951 | AAGAGTGA others(2055): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01255.hp2 HG01934.hp2 others(17): Show |
a0001a0005a0013 | a0001c0002a0001c0003a0001c0013others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0013t0001others(2): Show | a0001c0002t0001g0135a0001c0002t0001g0226a0001c0002t0001g0230others(17): Show | 20 | 394 | 0.0508 | -2062 | c.*32 others(11): Show |
LBP | ENSG00000129988.6 | transcript | ENST00000217407.3 | protein_coding | 2939 | chr20 | TogoVar | |||||||
| STK35_chr20_2096827_2153555 | 2096948 | ACCTCATG others(2055): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0071 | 1 | 272 | 0.0037 | -2062 | c.-49 others(11): Show |
STK35 | ENSG00000125834.13 | transcript | ENST00000381482.8 | protein_coding | 4878 | chr20 | TogoVar | |||||||
| RHEX_chr1_206048173_206107449 | 206058248 | TCTGATAC others(2053): Show |
T | intron_variant | MODIFIER | NA18970.hp1 NA18975.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0119a0001c0001t0009g0013 | 3 | 334 | 0.0090 | -2060 | c.-97 others(17): Show |
RHEX | ENSG00000263961.8 | transcript | ENST00000331555.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
| SLC51A_chr3_196211534_196238427 | 196222373 | ACCTGTAA others(2053): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG02004.hp2 HG03654.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174a0001c0001t0001g0175a0001c0001t0001g0176 | 3 | 428 | 0.0070 | -2060 | c.133 others(17): Show |
SLC51A | ENSG00000163959.10 | transcript | ENST00000296327.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805711 | CTCCCCCC others(2052): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 | a0008 | a0008c0015 | a0008c0015t0002 | a0008c0015t0002g0131 | 1 | 314 | 0.0032 | -2059 | c.*15 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1425 | chr2 | TogoVar |