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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYGC_chr2_208123137_208134828 | 208123172 | AAATAT | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(1): Show | 20 | 444 | 0.0451 | -5 | c.*50 others(16): Show |
CRYGC | ENSG00000163254.5 | transcript | ENST00000282141.4 | protein_coding | 4964 | chr2 | TogoVar | ||||||
CRYGD_chr2_208116607_208129524 | 208123172 | AAATAT | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0037a0001c0001t0001g0038others(2): Show | 20 | 454 | 0.0441 | -5 | c.252 others(20): Show |
CRYGD | ENSG00000118231.5 | transcript | ENST00000264376.5 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20414256 | TGTGTG | T | intron_variant | MODIFIER | HG01884.hp1 HG02897.hp2 HG03540.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0214a0001c0002t0001g0082a0001c0003t0001g0024 | 3 | 250 | 0.0120 | -5 | c.634 others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20456633 | CACACA | C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02615.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0234a0001c0001t0002g0069a0001c0001t0002g0240others(9): Show | 12 | 250 | 0.0480 | -5 | c.277 others(24): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20485685 | TAGAAA | T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02723.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0004t0002 | a0001c0002t0001g0077a0001c0002t0001g0078a0001c0002t0001g0190others(9): Show | 13 | 250 | 0.0520 | -5 | c.276 others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20496684 | GCAGAT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(220): Show | 224 | 250 | 0.8960 | -5 | c.150 others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20505359 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG01071.hp2 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0030a0001c0001t0001g0056a0001c0001t0001g0059others(77): Show | 80 | 250 | 0.3200 | -5 | c.149 others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20521102 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0101a0001c0001t0001g0102a0001c0001t0001g0104others(86): Show | 89 | 250 | 0.3560 | -5 | c.41+ others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20522911 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(25): Show | 29 | 250 | 0.1160 | -5 | c.41+ others(20): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20529921 | GATTAC | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00673.hp2 others(86): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0033others(85): Show | 89 | 250 | 0.3560 | -5 | c.-41 others(16): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 4065 | chr13 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21270282 | TCTTTC | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00741.hp2 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0014a0001c0002t0001g0015others(14): Show | 33 | 394 | 0.0838 | -5 | c.388 others(20): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21272816 | ATTTTT | A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00741.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0014a0001c0002t0001g0015others(6): Show | 24 | 394 | 0.0609 | -5 | c.387 others(22): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33604355 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0027others(140): Show | 145 | 360 | 0.4028 | -5 | c.332 others(20): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53157318 | ATGTTT | A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01952.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0001a0001c0001t0001g0030a0001c0001t0001g0087others(10): Show | 30 | 334 | 0.0898 | -5 | c.*11 others(16): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 344 | chr12 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41561076 | ACACAC | A | 5_prime_UTR_variant | MODIFIER | HG01167.hp1 HG02148.hp2 NA18973.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0029 | a0001c0001t0020g0003a0001c0001t0020g0029a0001c0001t0020g0108others(1): Show | 4 | 288 | 0.0139 | -5 | c.-23 others(14): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/4 | 10885 | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49047554 | TTTCTC | T | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp2 HG01256.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0205a0001c0001t0001g0206a0001c0001t0001g0207others(6): Show | 9 | 386 | 0.0233 | -5 | c.-12 others(22): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49067928 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG02735.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0313a0001c0002t0001g0346a0001c0002t0001g0349others(4): Show | 7 | 386 | 0.0181 | -5 | c.567 others(20): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49076182 | GTTGTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00733.hp2 others(63): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0005 | a0001c0001t0001a0001c0002t0001a0005c0005t0001 | a0001c0001t0001g0289a0001c0002t0001g0001a0001c0002t0001g0237others(61): Show | 66 | 386 | 0.1710 | -5 | c.133 others(22): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1269626 | AAAAAG | A | intron_variant | MODIFIER | HG00639.hp2 HG01192.hp2 HG03239.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0002g0036a0001c0001t0003g0041a0001c0001t0003g0044others(9): Show | 12 | 159 | 0.0755 | -5 | c.-91 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1269646 | AGAGAT | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00639.hp1 others(27): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0064a0001c0001t0001g0066a0001c0001t0001g0067others(27): Show | 30 | 159 | 0.1887 | -5 | c.-91 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1270598 | GATATC | G | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003 | 1 | 159 | 0.0063 | -5 | c.-91 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1272474 | CTTTAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(108): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0007others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0047a0001c0001t0001g0048a0001c0001t0001g0053others(108): Show | 111 | 159 | 0.6981 | -5 | c.-90 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1280945 | TGCTTC | T | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0072 | 1 | 159 | 0.0063 | -5 | c.-26 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 2/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1283150 | CCTTCG | C | intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0109 | 1 | 159 | 0.0063 | -5 | c.76+ others(18): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1284195 | CTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG03491.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0001g0067a0001c0001t0002g0069 | 3 | 159 | 0.0189 | -5 | c.76+ others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285701 | CAAAAA | C | intron_variant | MODIFIER | HG02572.hp2 | a0004 | a0004c0010 | a0004c0010t0003 | a0004c0010t0003g0158 | 1 | 159 | 0.0063 | -5 | c.77- others(16): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1286570 | CAAAAA | C | intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 HG01175.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0015others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0095a0001c0001t0002g0036a0001c0001t0002g0069others(24): Show | 27 | 159 | 0.1698 | -5 | c.219 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1289753 | TTTTTG | T | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 159 | 0.0063 | -5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1289807 | GTGTTT | G | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp2 HG01106.hp1 others(22): Show |
a0001a0002a0010others(1): Show | a0001c0001a0001c0002a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0068a0001c0001t0001g0076a0001c0001t0001g0086others(22): Show | 25 | 159 | 0.1572 | -5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1290027 | GTGTTT | G | intron_variant | MODIFIER | HG01346.hp2 HG01981.hp1 HG02145.hp1 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0066others(29): Show | 32 | 159 | 0.2013 | -5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1290047 | TTTTTG | T | intron_variant | MODIFIER | HG02886.hp2 | a0008 | a0008c0016 | a0008c0016t0009 | a0008c0016t0009g0015 | 1 | 159 | 0.0063 | -5 | c.474 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1293061 | ACACAG | A | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 159 | 0.0063 | -5 | c.647 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1300229 | TAAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0025a0001c0001t0001g0047a0001c0001t0001g0053others(58): Show | 61 | 159 | 0.3837 | -5 | c.811 others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF3R_chr1_36461043_36487913 | 36474390 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp2 others(11): Show |
a0001a0008 | a0001c0002a0001c0014a0008c0017 | a0001c0002t0001a0001c0014t0001a0008c0017t0002 | a0001c0002t0001g0013a0001c0002t0001g0039a0001c0002t0001g0070others(6): Show | 14 | 420 | 0.0333 | -5 | c.362 others(20): Show |
CSF3R | ENSG00000119535.20 | transcript | ENST00000373106.6 | protein_coding | 4/16 | chr1 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19478137 | GGGTGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(96): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0013others(96): Show | 99 | 238 | 0.4160 | -5 | c.635 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19488582 | GTATGA | G | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG03139.hp1 |
a0001a0003 | a0001c0002a0003c0005 | a0001c0002t0025a0001c0002t0048a0003c0005t0027 | a0001c0002t0025g0001a0001c0002t0048g0238a0003c0005t0027g0229 | 3 | 238 | 0.0126 | -5 | c.634 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19530222 | AAAAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG00738.hp1 others(18): Show |
a0002a0003a0004others(1): Show | a0002c0003a0002c0004a0002c0008others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0012others(9): Show | a0002c0003t0003g0048a0002c0003t0003g0105a0002c0003t0003g0109others(18): Show | 21 | 238 | 0.0882 | -5 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19533880 | AATAAG | A | intron_variant | MODIFIER | HG02717.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0043a0001c0002t0044 | a0001c0002t0043g0097a0001c0002t0044g0186 | 2 | 238 | 0.0084 | -5 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19597285 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00639.hp2 others(40): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0017others(21): Show | a0001c0001t0005g0187a0001c0001t0010g0088a0001c0001t0010g0122others(40): Show | 43 | 238 | 0.1807 | -5 | c.-29 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19643160 | ATACAG | A | intron_variant | MODIFIER | HG02015.hp1 NA18941.hp2 NA18992.hp2 |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0001c0001t0036a0007c0015t0002 | a0001c0001t0001g0061a0001c0001t0036g0225a0007c0015t0002g0060 | 3 | 238 | 0.0126 | -5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19662069 | CCCCCA | C | intron_variant | MODIFIER | HG00642.hp2 HG01243.hp1 HG01261.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(7): Show | a0001c0001t0001g0083a0001c0001t0001g0154a0001c0001t0001g0222others(12): Show | 15 | 238 | 0.0630 | -5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19727327 | ATTTGG | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01261.hp1 others(20): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(13): Show | a0001c0001t0001g0159a0001c0001t0005g0187a0001c0001t0010g0202others(20): Show | 23 | 238 | 0.0966 | -5 | c.-39 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43167986 | ATAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0022a0001c0001t0001g0031a0001c0001t0001g0032others(131): Show | 175 | 398 | 0.4397 | -5 | c.125 others(22): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CSH1_chr17_63889918_63901574 | 63898170 | CTCTCT | C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02293.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0002 | 3 | 428 | 0.0070 | -5 | c.-16 others(16): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1597 | chr17 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74779114 | AAAAAC | A | upstream_gene_variant | MODIFIER | NA18940.hp2 NA18960.hp2 NA18968.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0003a0001c0001t0010g0037 | 6 | 394 | 0.0152 | -5 | c.-36 others(16): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 2965 | chr15 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74784395 | TTTTTA | T | intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 NA18522.hp1 |
a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0140a0003c0007t0004g0141a0003c0007t0004g0142 | 3 | 394 | 0.0076 | -5 | c.-66 others(22): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3047213 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01123.hp2 others(25): Show |
a0001a0004a0008others(9): Show | a0001c0001a0001c0003a0001c0005others(22): Show | a0001c0001t0002a0001c0001t0039a0001c0003t0008others(25): Show | a0001c0001t0002g0125a0001c0001t0039g0017a0001c0003t0008g0053others(25): Show | 28 | 126 | 0.2222 | -5 | c.766 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 50/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3056500 | TGGGGA | T | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG02055.hp2 others(26): Show |
a0001a0003a0010others(7): Show | a0001c0002a0001c0004a0001c0007others(25): Show | a0001c0002t0028a0001c0004t0020a0001c0004t0063others(26): Show | a0001c0002t0028g0005a0001c0004t0020g0086a0001c0004t0063g0095others(26): Show | 29 | 126 | 0.2302 | -5 | c.747 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3067664 | TAAAAA | T | intron_variant | MODIFIER | HG02615.hp1 HG03225.hp1 NA18906.hp2 others(3): Show |
a0001a0008a0026 | a0001c0017a0001c0019a0001c0080others(3): Show | a0001c0017t0005a0001c0019t0078a0001c0080t0040others(3): Show | a0001c0017t0005g0003a0001c0019t0078g0105a0001c0080t0040g0025others(3): Show | 6 | 126 | 0.0476 | -5 | c.747 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3075257 | TTTTTC | T | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG00735.hp2 others(54): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(51): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0028others(53): Show | a0001c0001t0002g0102a0001c0001t0002g0125a0001c0001t0039g0017others(54): Show | 57 | 126 | 0.4524 | -5 | c.747 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar |