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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHMP6_chr17_80986841_81005133 | 80994696 | TGGGGCCC others(110): Show |
T | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 438 | 0.0023 | -117 | c.174 others(14): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CHSY1_chr15_101170727_101257048 | 101223644 | GAGGACTT others(110): Show |
G | intron_variant | MODIFIER | HG03209.hp1 NA20905.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0265 a0001c0004t0003g0281 |
2 | 422 | 0.0047 | -117 | c.816 others(19): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763464 | CGCGCCCC others(110): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0171 | 1 | 413 | 0.0024 | -117 | c.-54 others(9): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 324 | chr8 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1328277 | ATCCAGCT others(110): Show |
A | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 370 | 0.0027 | -117 | c.108 others(19): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 146725085 | GTGGACCT others(110): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 40 | 0.0250 | -117 | c.98- others(17): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134644241 | CGGGGAGG others(110): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG02717.hp2 others(2): Show |
a0001a0015 | a0001c0003a0001c0005a0015c0060 | a0001c0003t0003a0001c0003t0010a0001c0005t0009others(2): Show | a0001c0003t0003g0255 a0001c0003t0010g0259 a0001c0005t0009g0256 others(2): Show |
5 | 272 | 0.0184 | -117 | c.109 others(17): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CRAMP1_chr16_1607360_1682908 | 1661321 | AGGTCCTG others(110): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0022 | a0001c0022t0021 | a0001c0022t0021g0033 | 1 | 332 | 0.0030 | -117 | c.241 others(18): Show |
CRAMP1 | ENSG00000007545.16 | transcript | ENST00000397412.8 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1419324 | TGTGTGTG others(110): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG03492.hp1 |
a0001a0003 | a0001c0014a0003c0007 | a0001c0014t0004a0003c0007t0007 | a0001c0014t0004g0036 a0003c0007t0007g0038 |
2 | 40 | 0.0500 | -117 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMD_chrX_31114222_33216549 | 32452282 | AGAAAGGA others(110): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0098 | 1 | 126 | 0.0079 | -117 | c.360 others(19): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DNAH9_chr17_11593470_11974748 | 11694695 | TCGCTTTC others(110): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0078 | a0078c0085 | a0078c0085t0001 | a0078c0085t0001g0161 | 1 | 178 | 0.0056 | -117 | c.487 others(17): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 22/68 | chr17 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158863788 | GGGGGAGC others(110): Show |
G | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 274 | 0.0037 | -117 | c.16- others(15): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ELFN2_chr22_37362960_37432479 | 37399480 | GGCCCACC others(110): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0021a0001c0003t0001 | a0001c0002t0021g0197 a0001c0003t0001g0177 a0001c0003t0001g0200 others(1): Show |
4 | 334 | 0.0120 | -117 | c.-46 others(21): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99927990 | ATGGTGGT others(110): Show |
A | intron_variant | MODIFIER | HG01081.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0089 | 1 | 288 | 0.0035 | -117 | c.190 others(19): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 667436 | TGATGGTG others(110): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG03195.hp1 |
a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0006 a0001c0006t0004g0298 a0001c0006t0004g0320 |
3 | 418 | 0.0072 | -117 | c.*67 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2881 | chr18 | TogoVar | |||||||
EPN2_chr17_19232366_19341715 | 19262537 | ATGCAATA others(110): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01496.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0009others(3): Show | a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 others(45): Show |
48 | 282 | 0.1702 | -117 | c.-29 others(21): Show |
EPN2 | ENSG00000072134.16 | transcript | ENST00000314728.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89360774 | TCCACCAC others(110): Show |
T | intron_variant | MODIFIER | HG01975.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0057 | a0001c0001t0001g0064 a0001c0001t0057g0018 |
2 | 230 | 0.0087 | -117 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89360941 | CACCTCCA others(110): Show |
C | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 230 | 0.0044 | -117 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361957 | AGCACCAC others(110): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0017 | 1 | 230 | 0.0044 | -117 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89362496 | CATCTCCA others(110): Show |
C | intron_variant | MODIFIER | HG01175.hp1 NA18945.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0012 | a0001c0001t0001g0134 a0001c0001t0006g0094 a0001c0001t0012g0145 |
3 | 230 | 0.0130 | -117 | c.544 others(19): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FSHB_chr11_30226014_30240194 | 30236824 | TTGGGAGG others(110): Show |
T | downstream_gene_variant | MODIFIER | HG01943.hp2 HG01952.hp1 HG01981.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 15 | 388 | 0.0387 | -117 | c.*30 others(11): Show |
FSHB | ENSG00000131808.11 | transcript | ENST00000533718.2 | protein_coding | 1631 | chr11 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807290 | CCACCTTC others(110): Show |
C | downstream_gene_variant | MODIFIER | HG02602.hp1 HG02723.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0005 a0002c0002t0002g0157 |
2 | 314 | 0.0064 | -117 | c.*31 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3004 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807356 | AACCTCCG others(110): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 314 | 0.0032 | -117 | c.*31 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3070 | chr2 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230198359 | CCAGCAGC others(110): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021a0001c0001t0053 | a0001c0001t0008g0005 a0001c0001t0008g0252 a0001c0001t0008g0253 others(3): Show |
6 | 324 | 0.0185 | -117 | c.221 others(17): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53713283 | GCAGCCTG others(110): Show |
G | intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0052 | 1 | 236 | 0.0042 | -117 | c.259 others(19): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
GP1BA_chr17_4927277_4940023 | 4933822 | AAGCCCGA others(110): Show |
A | disruptive_inframe_deletion | MODERATE | HG01168.hp2 HG01169.hp2 |
a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0001 | 2 | 424 | 0.0047 | -117 | c.123 others(9): Show |
p.Glu others(13): Show |
GP1BA | ENSG00000185245.9 | transcript | ENST00000329125.6 | protein_coding | 2/2 | 1328/2514 | 1233/1959 | 411/652 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
GRIN1_chr9_137134154_137173756 | 137144694 | GGAGGGGG others(110): Show |
G | intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 298 | 0.0034 | -117 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GRIN1_chr9_137134154_137173756 | 137144784 | GGGTGGTA others(110): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02896.hp2 HG02897.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0102 a0001c0001t0001g0197 a0001c0001t0001g0275 others(2): Show |
5 | 298 | 0.0168 | -117 | c.394 others(15): Show |
GRIN1 | ENSG00000176884.17 | transcript | ENST00000371561.8 | protein_coding | 2/19 | chr9 | TogoVar | |||||||
HTN3_chr4_70023459_70041538 | 70037593 | TGCCCGGC others(110): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 412 | 0.0049 | -117 | c.*13 others(11): Show |
HTN3 | ENSG00000205649.9 | transcript | ENST00000673563.1 | protein_coding | 1056 | chr4 | TogoVar | |||||||
IFITM3_chr11_314676_325860 | 321505 | TTCACTAT others(110): Show |
T | upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 31 | 0.0323 | -117 | c.-80 others(9): Show |
IFITM3 | ENSG00000142089.17 | transcript | ENST00000399808.5 | protein_coding | 646 | chr11 | TogoVar | |||||||
IL3RA_chrX_1331785_1387689 | 1367212 | AGCGGGGT others(110): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG02257.hp2 |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0003a0004c0011t0004 | a0001c0001t0003g0081 a0001c0001t0003g0082 a0004c0011t0004g0059 |
3 | 115 | 0.0261 | -117 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31550884 | TTAACAAT others(110): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(51): Show |
a0002a0003a0012others(4): Show | a0002c0001a0003c0005a0003c0007others(5): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(14): Show | a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0001t0001g0183 others(51): Show |
54 | 312 | 0.1731 | -117 | c.-24 others(17): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 2/14 | chr7 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79888370 | ATCCTCCT others(110): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01099.hp1 others(52): Show |
a0002a0007 | a0002c0002a0007c0011 | a0002c0002t0001a0002c0002t0002a0007c0011t0002 | a0002c0002t0001g0030 a0002c0002t0001g0050 a0002c0002t0002g0031 others(52): Show |
55 | 312 | 0.1763 | -117 | c.625 others(19): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21714787 | TTATTTTA others(110): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 | 1 | 80 | 0.0125 | -117 | c.61+ others(19): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KDM4B_chr19_4964113_5158598 | 5043857 | TGGGGTGT others(110): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0174 a0001c0001t0001g0256 |
3 | 270 | 0.0111 | -117 | c.432 others(17): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
KLF17_chr1_44113821_44140140 | 44140023 | TAGTAGAG others(110): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG01978.hp2 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 others(12): Show |
18 | 444 | 0.0405 | -117 | c.*67 others(11): Show |
KLF17 | ENSG00000171872.5 | transcript | ENST00000372299.4 | protein_coding | 4884 | chr1 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6272375 | ACGCCTTC others(110): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 94 | 0.0106 | -117 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6272446 | CAGTTCTG others(110): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0093 | 1 | 94 | 0.0106 | -117 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6272610 | CGCCTTCA others(110): Show |
C | intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 94 | 0.0106 | -117 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6272797 | CAGTTCTG others(110): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 94 | 0.0106 | -117 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6272914 | GAGTTCTG others(110): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0037 a0001c0001t0005g0075 |
2 | 94 | 0.0213 | -117 | c.128 others(17): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 4/18 | chr18 | TogoVar | |||||||
LGR5_chr12_71434798_71591310 | 71563931 | CACACACA others(110): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 200 | 0.0050 | -117 | c.857 others(17): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LGR5_chr12_71434798_71591310 | 71563936 | ACACCGTG others(110): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01099.hp2 HG01257.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0124 a0001c0001t0002g0064 others(11): Show |
14 | 200 | 0.0700 | -117 | c.857 others(17): Show |
LGR5 | ENSG00000139292.13 | transcript | ENST00000266674.10 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LRRC56_chr11_532527_559912 | 541871 | AGCACGCT others(110): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01256.hp2 HG01258.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0011 | a0003c0003t0001g0021 a0003c0003t0001g0038 a0003c0003t0001g0210 others(2): Show |
8 | 387 | 0.0207 | -117 | c.265 others(15): Show |
LRRC56 | ENSG00000161328.11 | transcript | ENST00000270115.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LRRTM3_chr10_66921036_67106551 | 67013179 | GTAAGAAC others(110): Show |
G | intron_variant | MODIFIER | HG03209.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020 | a0001c0001t0012g0276 a0001c0001t0020g0275 |
2 | 294 | 0.0068 | -117 | c.153 others(21): Show |
LRRTM3 | ENSG00000198739.11 | transcript | ENST00000361320.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46192877 | GCACAGGT others(110): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0208 a0001c0004t0012g0209 a0001c0004t0012g0210 others(1): Show |
4 | 358 | 0.0112 | -117 | c.198 others(18): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 20/21 | chr21 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186321 | GGGGGAAC others(110): Show |
G | downstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263 | 1 | 350 | 0.0029 | -117 | c.*27 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2668 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186865 | GGGGGAAC others(110): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | 350 | 0.0057 | -117 | c.*22 others(11): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2124 | chr16 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1323894 | TGTGCCTG others(110): Show |
T | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0027 | 1 | 388 | 0.0026 | -117 | c.579 others(17): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19452235 | GAAGAGAA others(110): Show |
G | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 163 | 0.0061 | -117 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
MATN1_chr1_30706277_30728585 | 30728308 | GAAATGAG others(110): Show |
G | upstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0008 | 1 | 440 | 0.0023 | -117 | c.-48 others(11): Show |
MATN1 | ENSG00000162510.6 | transcript | ENST00000373765.5 | protein_coding | 4724 | chr1 | TogoVar |