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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUFY1_chr5_179545554_179615012 | 179580206 | CGTGTGT | C | intron_variant | MODIFIER | HG01123.hp1 HG02970.hp2 HG03098.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0008a0004c0013 | a0001c0001t0001a0002c0008t0002a0004c0013t0003 | a0001c0001t0001g0017 a0001c0001t0001g0193 a0001c0001t0001g0294 others(2): Show |
5 | 376 | 0.0133 | -6 | c.891 others(21): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY1_chr5_179545554_179615012 | 179582843 | CAAAAAT | C | intron_variant | MODIFIER | HG02129.hp2 NA18960.hp1 NA18961.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0326 others(4): Show |
7 | 376 | 0.0186 | -6 | c.956 others(23): Show |
RUFY1 | ENSG00000176783.15 | transcript | ENST00000319449.9 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RUFY2_chr10_68338408_68412277 | 68376440 | GTGTATA | G | intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG02257.hp1 others(15): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0002t0010a0001c0002t0019others(3): Show | a0001c0002t0002g0203 a0001c0002t0002g0206 a0001c0002t0002g0211 others(15): Show |
18 | 276 | 0.0652 | -6 | c.132 others(23): Show |
RUFY2 | ENSG00000204130.14 | transcript | ENST00000602465.6 | protein_coding | 13/17 | chr10 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70720888 | CGTGTGT | C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG01243.hp2 HG02145.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0099 a0001c0001t0002g0192 a0001c0001t0003g0035 others(17): Show |
20 | 254 | 0.0787 | -6 | c.-16 others(17): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 1075 | chr4 | TogoVar | |||||||
RUFY3_chr4_70716964_70813619 | 70733162 | GAGAGAA | G | intron_variant | MODIFIER | HG03209.hp1 HG03540.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0026 a0001c0001t0013g0003 a0001c0001t0013g0004 others(2): Show |
5 | 254 | 0.0197 | -6 | c.178 others(25): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70759366 | GTGTGTA | G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp2 others(36): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0013 a0001c0001t0003g0017 a0001c0001t0003g0018 others(36): Show |
39 | 254 | 0.1535 | -6 | c.179 others(23): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70767259 | ATTTTTT | A | intron_variant | MODIFIER | HG00597.hp1 HG01257.hp2 HG01258.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(3): Show | a0001c0001t0003g0056 a0001c0001t0003g0061 a0001c0001t0006g0057 others(9): Show |
12 | 254 | 0.0472 | -6 | c.573 others(23): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUFY3_chr4_70716964_70813619 | 70791099 | CAGAAAG | C | intron_variant | MODIFIER | HG03239.hp1 HG03834.hp1 HG03942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0010 | a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0214 others(5): Show |
8 | 254 | 0.0315 | -6 | c.133 others(25): Show |
RUFY3 | ENSG00000018189.13 | transcript | ENST00000381006.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87626009 | CATATAT | C | upstream_gene_variant | MODIFIER | HG02717.hp1 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0039 | a0001c0001t0022g0179 a0001c0001t0039g0158 |
2 | 202 | 0.0099 | -6 | c.-28 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2388 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626019 | TATATAG | T | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02895.hp2 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0058others(1): Show | a0001c0001t0002g0162 a0001c0001t0002g0176 a0001c0001t0017g0170 others(2): Show |
5 | 202 | 0.0248 | -6 | c.-28 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2378 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626021 | TATAGAG | T | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01192.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(9): Show | a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 others(15): Show |
18 | 202 | 0.0891 | -6 | c.-28 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2376 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626023 | TAGAGAG | T | upstream_gene_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG01952.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0020others(8): Show | a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0163 others(14): Show |
17 | 202 | 0.0842 | -6 | c.-28 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2374 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626097 | TATTGTC | T | upstream_gene_variant | MODIFIER | NA18970.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0150 a0001c0001t0012g0151 |
2 | 202 | 0.0099 | -6 | c.-27 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2300 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626774 | CAGAGAG | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0107 a0001c0001t0036g0160 |
2 | 202 | 0.0099 | -6 | c.-20 others(17): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1623 | chr7 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87628584 | CGTGTGT | C | 5_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01069.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(11): Show | a0001c0001t0006g0050 a0001c0001t0006g0066 a0001c0001t0006g0067 others(27): Show |
30 | 202 | 0.1485 | -6 | c.-20 others(15): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 1/11 | 199 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
RUNDC3B_chr7_87623398_87837296 | 87720542 | ATGTGTG | A | intron_variant | MODIFIER | HG03098.hp2 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0036 | a0001c0001t0017g0170 a0001c0001t0036g0160 |
2 | 202 | 0.0099 | -6 | c.458 others(23): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87734787 | ACTCCAT | A | intron_variant | MODIFIER | HG01981.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0056 | a0001c0001t0019g0110 a0001c0001t0056g0086 |
2 | 202 | 0.0099 | -6 | c.459 others(23): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87736804 | ATATATT | A | intron_variant | MODIFIER | HG03041.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0076 | a0001c0001t0036g0160 a0001c0001t0076g0081 |
2 | 202 | 0.0099 | -6 | c.459 others(23): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87823380 | TTTAAAA | T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01192.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(16): Show | a0001c0001t0002g0027 a0001c0001t0002g0137 a0001c0001t0002g0162 others(35): Show |
38 | 202 | 0.1881 | -6 | c.122 others(25): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 91953589 | GTGACTT | G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02486.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0110 a0001c0001t0004g0095 a0001c0001t0004g0096 others(11): Show |
14 | 132 | 0.1061 | -6 | c.*66 others(17): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 1382 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 91959412 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG01070.hp2 HG01257.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0032a0001c0001t0066others(1): Show | a0001c0001t0011g0067 a0001c0001t0011g0076 a0001c0001t0011g0086 others(3): Show |
6 | 132 | 0.0455 | -6 | c.*82 others(15): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 12/12 | 824 | chr8 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 91959464 | GTGTATA | G | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01168.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0037a0001c0001t0075others(1): Show | a0001c0001t0018g0093 a0001c0001t0018g0103 a0001c0001t0037g0058 others(2): Show |
5 | 132 | 0.0379 | -6 | c.*77 others(15): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 12/12 | 772 | chr8 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 91959488 | GTATATA | G | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0041 | a0001c0001t0040g0101 a0001c0001t0041g0127 |
2 | 132 | 0.0152 | -6 | c.*74 others(15): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 12/12 | 748 | chr8 | TogoVar | ||||||
RUNX1T1_chr8_91949972_92108385 | 92008388 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(14): Show | a0001c0001t0001g0037 a0001c0001t0005g0028 a0001c0001t0005g0032 others(16): Show |
19 | 132 | 0.1439 | -6 | c.558 others(23): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 5/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92034797 | TACACAC | T | intron_variant | MODIFIER | HG00438.hp1 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0048 | a0001c0001t0010g0066 a0001c0001t0048g0091 |
2 | 132 | 0.0152 | -6 | c.89- others(23): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92051624 | ACTCTCT | A | intron_variant | MODIFIER | HG01167.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0033others(8): Show | a0001c0001t0006g0052 a0001c0001t0009g0115 a0001c0001t0033g0003 others(8): Show |
11 | 132 | 0.0833 | -6 | c.88+ others(23): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1T1_chr8_91949972_92108385 | 92060522 | AATATAT | A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0054a0001c0001t0081 | a0001c0001t0037g0058 a0001c0001t0054g0055 a0001c0001t0081g0013 |
3 | 132 | 0.0227 | -6 | c.88+ others(23): Show |
RUNX1T1 | ENSG00000079102.18 | transcript | ENST00000523629.7 | protein_coding | 2/11 | chr8 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849310 | TATTATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01169.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0135 a0001c0001t0002g0004 a0001c0001t0002g0018 others(11): Show |
14 | 170 | 0.0824 | -6 | c.613 others(25): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34849311 | ATTATAT | A | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 a0001c0001t0005g0126 |
2 | 170 | 0.0118 | -6 | c.613 others(25): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 6/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34865279 | CGTGTGT | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01071.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(5): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0102 others(9): Show |
12 | 170 | 0.0706 | -6 | c.509 others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 5/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34894880 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01071.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0037 a0001c0001t0001g0042 others(12): Show |
15 | 170 | 0.0882 | -6 | c.59- others(21): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34894924 | CACACAT | C | intron_variant | MODIFIER | HG00438.hp2 HG00741.hp2 HG02486.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0084 others(13): Show |
16 | 170 | 0.0941 | -6 | c.59- others(21): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34930703 | ACTCTCT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(40): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0017 others(40): Show |
43 | 170 | 0.2529 | -6 | c.59- others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 34991544 | CGATGAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG01109.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0026 others(33): Show |
36 | 170 | 0.2118 | -6 | c.58+ others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35001308 | TTATATA | T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0064 a0001c0001t0001g0123 others(6): Show |
9 | 170 | 0.0529 | -6 | c.58+ others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35010625 | GCACACA | G | intron_variant | MODIFIER | HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0143 a0001c0003t0001g0162 |
2 | 170 | 0.0118 | -6 | c.58+ others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35038572 | CCTCTCT | C | intron_variant | MODIFIER | HG01106.hp1 HG01952.hp2 HG02055.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0035 others(21): Show |
24 | 170 | 0.1412 | -6 | c.58+ others(23): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35047514 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp2 HG01099.hp2 HG01192.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0034 a0001c0001t0004g0124 a0001c0001t0008g0100 others(4): Show |
7 | 170 | 0.0412 | -6 | c.58+ others(21): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35047557 | ACACACT | A | intron_variant | MODIFIER | HG01433.hp1 HG01975.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007 | a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0002t0007g0057 |
3 | 170 | 0.0177 | -6 | c.58+ others(21): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35047559 | ACACTCT | A | intron_variant | MODIFIER | HG01109.hp2 HG02080.hp1 HG02165.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 others(1): Show |
4 | 170 | 0.0235 | -6 | c.58+ others(21): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RUNX1_chr21_34782801_35054302 | 35049985 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00741.hp2 HG02572.hp2 HG02615.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0102 others(16): Show |
19 | 170 | 0.1118 | -6 | c.-88 others(15): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 684 | chr21 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45325643 | CAAAAAT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 others(26): Show |
29 | 178 | 0.1629 | -6 | c.-28 others(17): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2686 | chr6 | TogoVar | |||||||
RUNX2_chr6_45323330_45556082 | 45354630 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 others(29): Show |
32 | 178 | 0.1798 | -6 | c.58+ others(23): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45373460 | TTAGCAG | T | intron_variant | MODIFIER | HG02258.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0022 a0001c0001t0007g0023 |
2 | 178 | 0.0112 | -6 | c.58+ others(23): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45474373 | ATGTGTG | A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01928.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008 | a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0100 others(3): Show |
6 | 178 | 0.0337 | -6 | c.686 others(25): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45519790 | ATGTGTG | A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0123 |
3 | 178 | 0.0169 | -6 | c.102 others(25): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45519832 | GTGTGTA | G | intron_variant | MODIFIER | NA18955.hp1 NA18995.hp1 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0044 a0001c0002t0001g0045 a0001c0002t0001g0046 |
3 | 178 | 0.0169 | -6 | c.102 others(25): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUNX2_chr6_45323330_45556082 | 45533888 | CTTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0024 a0001c0001t0002g0033 a0001c0001t0002g0171 others(2): Show |
5 | 178 | 0.0281 | -6 | c.102 others(27): Show |
RUNX2 | ENSG00000124813.23 | transcript | ENST00000647337.2 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35513190 | TTTGTTG | T | intron_variant | MODIFIER | HG03834.hp1 NA18965.hp2 NA18975.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0257 a0001c0001t0001g0264 others(2): Show |
5 | 322 | 0.0155 | -6 | c.-93 others(25): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35513903 | CATATAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(75): Show |
a0001a0003a0007 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0052 a0001c0001t0001g0053 others(69): Show |
78 | 322 | 0.2422 | -6 | c.-93 others(25): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |