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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EPS8L1_chr19_55070869_55092923 | 55078205 | A | AGGAGGAG others(178): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(22): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 others(10): Show |
25 | 340 | 0.0735 | 185 | c.58+ others(196): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078408 | G | GCTGGACT others(178): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00621.hp1 others(23): Show |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0004 | a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0033 others(11): Show |
26 | 340 | 0.0765 | 185 | c.58+ others(198): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078468 | A | AGAGGGGC others(178): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0164 | 1 | 340 | 0.0029 | 185 | c.58+ others(198): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EPS8L1_chr19_55070869_55092923 | 55078838 | G | GGAGGGGC others(178): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 340 | 0.0029 | 185 | c.59- others(196): Show |
EPS8L1 | ENSG00000131037.15 | transcript | ENST00000201647.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137328362 | T | TATACTCC others(178): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01256.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0032a0002c0002others(2): Show | a0001c0001t0001a0001c0032t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0026 a0001c0001t0001g0050 others(4): Show |
7 | 82 | 0.0854 | 185 | c.199 others(204): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 639265 | T | TCTCCTGC others(178): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00673.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0203 a0001c0001t0001g0244 a0001c0001t0001g0247 others(21): Show |
24 | 272 | 0.0882 | 185 | c.-43 others(202): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC3L4_chr14_103089725_103115559 | 103109651 | T | TCCCTCCC others(178): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0011 | a0011c0015 | a0011c0015t0003 | a0011c0015t0003g0158 | 1 | 404 | 0.0025 | 185 | c.197 others(202): Show |
EXOC3L4 | ENSG00000205436.8 | transcript | ENST00000688303.1 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EYA4_chr6_133236357_133537128 | 133410619 | T | TAGAACTA others(178): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG01099.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0112 a0001c0001t0002g0005 a0001c0001t0002g0006 others(12): Show |
15 | 264 | 0.0568 | 185 | c.83+ others(202): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(178): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 292 | 0.0034 | 185 | c.571 others(202): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261580 | G | GCCCTCCA others(178): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02074.hp2 NA18962.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0012others(1): Show | a0001c0001t0001g0174 a0002c0002t0001g0183 a0002c0002t0012g0254 others(1): Show |
4 | 292 | 0.0137 | 185 | c.571 others(202): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261725 | G | GTGACCCT others(178): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0004 | a0004c0004t0008 | a0004c0004t0008g0006 | 1 | 292 | 0.0034 | 185 | c.571 others(202): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6261753 | C | CCAAGCGT others(178): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 292 | 0.0034 | 185 | c.571 others(202): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FAM135A_chr6_70408508_70566174 | 70538917 | C | CTTTTTTT others(178): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02698.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 a0001c0002t0002g0260 a0001c0002t0002g0262 others(1): Show |
4 | 268 | 0.0149 | 185 | c.422 others(202): Show |
FAM135A | ENSG00000082269.17 | transcript | ENST00000418814.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241355590 | A | AGACCTAG others(178): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 378 | 0.0027 | 185 | c.-82 others(194): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 694 | chr2 | TogoVar | |||||||
FBN2_chr5_128252909_128543245 | 128539836 | T | TATGATAT others(178): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0016 | a0016c0045 | a0016c0045t0010 | a0016c0045t0010g0027 | 1 | 236 | 0.0042 | 185 | c.-22 others(196): Show |
FBN2 | ENSG00000138829.14 | transcript | ENST00000262464.9 | protein_coding | 1592 | chr5 | TogoVar | |||||||
FBN3_chr19_8060402_8154592 | 8130639 | A | AGGAAAGG others(178): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0013 | a0013c0127 | a0013c0127t0001 | a0013c0127t0001g0011 | 1 | 380 | 0.0026 | 185 | c.204 others(202): Show |
FBN3 | ENSG00000142449.13 | transcript | ENST00000600128.6 | protein_coding | 16/63 | chr19 | TogoVar | |||||||
FER1L5_chr2_96637764_96709883 | 96659354 | C | CTTTCTTT others(178): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0158 | 1 | 226 | 0.0044 | 185 | c.748 others(200): Show |
FER1L5 | ENSG00000249715.13 | transcript | ENST00000624922.6 | protein_coding | 9/52 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FGFR4_chr5_177081915_177103144 | 177097091 | C | CTCCTCCT others(178): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0020 | a0020c0049 | a0020c0049t0001 | a0020c0049t0001g0054 | 1 | 372 | 0.0027 | 185 | c.215 others(202): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635489 | G | GAAGTATG others(178): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0360 | 1 | 388 | 0.0026 | 185 | c.59- others(200): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
GAK_chr4_844277_937316 | 926877 | C | CCTCCCCG others(178): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0097 a0001c0008t0001g0098 a0001c0008t0001g0099 others(6): Show |
9 | 390 | 0.0231 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927060 | C | CCGCACCC others(178): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0004 | a0004c0009 | a0004c0009t0006 | a0004c0009t0006g0377 | 1 | 390 | 0.0026 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927060 | C | CCGCACCC others(178): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00733.hp1 others(49): Show |
a0001a0010a0012others(3): Show | a0001c0001a0001c0004a0001c0019others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0139 others(47): Show |
52 | 390 | 0.1333 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927060 | C | CCGCACCC others(178): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(64): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0021others(14): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(15): Show | a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0286 others(64): Show |
67 | 390 | 0.1718 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927060 | C | CTGCACCC others(178): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 390 | 0.0026 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927122 | G | GTCCGCAC others(178): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0247 a0001c0005t0002g0248 |
2 | 390 | 0.0051 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927196 | G | GTCCGCAC others(178): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02155.hp2 HG03239.hp2 others(3): Show |
a0001a0024 | a0001c0001a0024c0048 | a0001c0001t0001a0024c0048t0001 | a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 others(3): Show |
6 | 390 | 0.0154 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927233 | C | CTCCGCAC others(178): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03486.hp2 |
a0001 | a0001c0005a0001c0038 | a0001c0005t0002a0001c0038t0001 | a0001c0005t0002g0054 a0001c0038t0001g0053 |
2 | 390 | 0.0051 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 927307 | G | GTCCCCAC others(178): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03453.hp1 |
a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0023 a0007c0015t0001g0263 |
2 | 390 | 0.0051 | 185 | c.145 others(202): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242174 | C | CTCCCTAT others(178): Show |
intron_variant | MODIFIER | NA18952.hp2 NA19067.hp1 |
a0001 | a0001c0013a0001c0036 | a0001c0013t0004a0001c0036t0004 | a0001c0013t0004g0124 a0001c0036t0004g0158 |
2 | 183 | 0.0109 | 185 | c.107 others(204): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242887 | C | CAGGGCCC others(178): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18964.hp2 |
a0001 | a0001c0020a0001c0041 | a0001c0020t0001a0001c0041t0006 | a0001c0020t0001g0115 a0001c0041t0006g0001 |
2 | 183 | 0.0109 | 185 | c.107 others(204): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243022 | C | CGGGGCCC others(178): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03139.hp2 |
a0001a0004 | a0001c0002a0004c0023 | a0001c0002t0005a0004c0023t0005 | a0001c0002t0005g0066 a0004c0023t0005g0028 |
2 | 183 | 0.0109 | 185 | c.107 others(204): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113836850 | G | GGGGAGGA others(178): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0039 | 1 | 143 | 0.0070 | 185 | c.590 others(202): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
GASK1A_chr3_42974311_43062715 | 43015281 | C | CCACAGGA others(178): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 342 | 0.0029 | 185 | c.4-1 others(200): Show |
GASK1A | ENSG00000144649.10 | transcript | ENST00000430121.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308431 | C | CCACCACC others(178): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18940.hp1 NA18951.hp1 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 a0001c0003t0001g0042 a0001c0003t0001g0043 others(3): Show |
9 | 422 | 0.0213 | 185 | c.962 others(202): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPC6_chr13_93221807_94413020 | 94288814 | A | ATAATAAA others(178): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0061 | 1 | 76 | 0.0132 | 185 | c.100 others(204): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
GRAMD1B_chr11_123425269_123632767 | 123457117 | A | AGAAAGAA others(178): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0166 | 1 | 282 | 0.0036 | 185 | c.375 others(204): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
GRAMD1B_chr11_123425269_123632767 | 123457117 | A | AGAAAGAA others(178): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0069 | a0001c0001t0069g0139 | 1 | 282 | 0.0036 | 185 | c.375 others(204): Show |
GRAMD1B | ENSG00000023171.20 | transcript | ENST00000635736.2 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
GRAMD4_chr22_46615386_46684785 | 46635126 | C | CTGGGGAA others(178): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 328 | 0.0031 | 185 | c.163 others(202): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635555 | C | CTCCCTGC others(178): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 328 | 0.0031 | 185 | c.163 others(202): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRAMD4_chr22_46615386_46684785 | 46635607 | G | GCCCCCGA others(178): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01934.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0146 |
2 | 328 | 0.0061 | 185 | c.163 others(202): Show |
GRAMD4 | ENSG00000075240.17 | transcript | ENST00000406902.6 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GRM7_chr3_6856115_7746533 | 7276785 | T | TCCTTCCT others(178): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0037 | 1 | 80 | 0.0125 | 185 | c.737 others(204): Show |
GRM7 | ENSG00000196277.17 | transcript | ENST00000357716.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653187 | G | GCCCCCCT others(178): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0053 | 1 | 290 | 0.0035 | 185 | c.427 others(202): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(178): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 290 | 0.0035 | 185 | c.427 others(202): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653216 | C | CTCCCCCC others(178): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01123.hp1 HG01515.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0007 | a0001c0001t0001g0094 a0001c0002t0002g0165 a0001c0002t0002g0248 others(1): Show |
4 | 290 | 0.0138 | 185 | c.427 others(202): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | chr16 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60042491 | T | TGTCAGCA others(178): Show |
3_prime_UTR_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0084 | 1 | 250 | 0.0040 | 185 | c.*10 others(196): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 1071 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042602 | T | TGTCAGCA others(178): Show |
3_prime_UTR_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0083 | 1 | 250 | 0.0040 | 185 | c.*96 others(194): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 960 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042602 | T | TGTCAGCA others(178): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0107 | 1 | 250 | 0.0040 | 185 | c.*96 others(194): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 960 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042602 | T | TGTCAGCA others(178): Show |
3_prime_UTR_variant | MODIFIER | HG00621.hp1 HG01981.hp1 HG02135.hp1 others(14): Show |
a0001a0016 | a0001c0001a0001c0007a0001c0009others(1): Show | a0001c0001t0003a0001c0001t0065a0001c0001t0088others(3): Show | a0001c0001t0003g0010 a0001c0001t0003g0079 a0001c0001t0003g0081 others(13): Show |
17 | 250 | 0.0680 | 185 | c.*96 others(194): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 960 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042639 | T | TGTCAGCA others(178): Show |
3_prime_UTR_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0075 | 1 | 250 | 0.0040 | 185 | c.*92 others(194): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 923 | chr17 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(178): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 174 | 0.0058 | 185 | c.199 others(200): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar |