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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FAM210A_chr18_13658347_13731558 | 13675398 | ATTTCCAG others(36): Show |
A | intron_variant | MODIFIER | HG01884.hp1 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0255 a0001c0001t0009g0040 |
2 | 326 | 0.0061 | -43 | c.474 others(60): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13675487 | ATTTCCAG others(36): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(66): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(13): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 others(63): Show |
69 | 326 | 0.2117 | -43 | c.474 others(60): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FAM210A_chr18_13658347_13731558 | 13676131 | TATTTCCA others(36): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(39): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(226): Show |
261 | 326 | 0.8006 | -43 | c.474 others(60): Show |
FAM210A | ENSG00000177150.13 | transcript | ENST00000651643.1 | protein_coding | 2/3 | chr18 | TogoVar | |||||||
FANCL_chr2_58154247_58246325 | 58217142 | GATTTATA others(36): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01433.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 others(1): Show |
4 | 390 | 0.0103 | -43 | c.374 others(60): Show |
FANCL | ENSG00000115392.13 | transcript | ENST00000233741.9 | protein_coding | 5/13 | chr2 | TogoVar | |||||||
FAT2_chr5_151499092_151596331 | 151591238 | TGACAGGC others(36): Show |
T | 5_prime_UTR_variant | MODIFIER | HG00558.hp1 | a0006 | a0006c0005 | a0006c0005t0016 | a0006c0005t0016g0008 | 1 | 398 | 0.0025 | -43 | c.-13 others(51): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 1/24 | 22308 | chr5 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92319344 | GGGAAAAA others(36): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01074.hp2 others(61): Show |
a0001a0002a0003others(31): Show | a0001c0006a0001c0014a0001c0035others(52): Show | a0001c0006t0052a0001c0006t0067a0001c0014t0034others(60): Show | a0001c0006t0052g0028 a0001c0006t0067g0018 a0001c0014t0034g0062 others(61): Show |
64 | 118 | 0.5424 | -43 | c.-17 others(62): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132533241 | CGACCCAG others(36): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0010 | a0010c0064 | a0010c0064t0009 | a0010c0064t0009g0109 | 1 | 348 | 0.0029 | -43 | c.615 others(60): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132533315 | TCAGTCTC others(36): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0121 | 1 | 348 | 0.0029 | -43 | c.615 others(60): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FBXW11_chr5_171856549_172011638 | 172010691 | TATATATA others(36): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0139 others(3): Show |
6 | 158 | 0.0380 | -43 | c.-42 others(54): Show |
FBXW11 | ENSG00000072803.18 | transcript | ENST00000517395.6 | protein_coding | 4054 | chr5 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850484 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG02071.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0017others(4): Show | a0001c0001t0009g0179 a0001c0001t0012g0191 a0001c0001t0012g0230 others(5): Show |
8 | 266 | 0.0301 | -43 | c.408 others(62): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850509 | TATATAGA others(36): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0218 | 1 | 266 | 0.0038 | -43 | c.408 others(62): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGF22_chr19_634879_649373 | 644457 | CCCCCGGG others(36): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(141): Show |
a0000a0001a0002others(2): Show | a0000c0002a0001c0001a0001c0008others(3): Show | a0000c0002t0002a0000c0002t0007a0001c0001t0002others(8): Show | a0000c0002t0002g0003 a0000c0002t0002g0005 a0000c0002t0002g0008 others(55): Show |
144 | 434 | 0.3318 | -43 | c.*85 others(52): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 85 | chr19 | TogoVar | |||||||
FGFR4_chr5_177081915_177103144 | 177092808 | ATGCTGCG others(36): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0004 | a0004c0009 | a0004c0009t0005 | a0004c0009t0005g0205 | 1 | 372 | 0.0027 | -43 | c.105 others(58): Show |
FGFR4 | ENSG00000160867.15 | transcript | ENST00000292408.9 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FIP1L1_chr4_53372641_53465862 | 53465631 | TATGGTCC others(36): Show |
T | downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 392 | 0.0026 | -43 | c.*61 others(54): Show |
FIP1L1 | ENSG00000145216.17 | transcript | ENST00000337488.11 | protein_coding | 4770 | chr4 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180616047 | CCTGCCGG others(36): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01952.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0124 a0001c0001t0002g0191 a0001c0001t0002g0195 others(2): Show |
5 | 388 | 0.0129 | -43 | c.321 others(60): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FNDC3A_chr13_48970912_49214779 | 49158477 | TCTTCTGC others(36): Show |
T | intron_variant | MODIFIER | NA18954.hp1 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 a0001c0002t0001g0108 |
2 | 292 | 0.0069 | -43 | c.978 others(60): Show |
FNDC3A | ENSG00000102531.16 | transcript | ENST00000492622.6 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361394 | CTCCAGCA others(36): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0020a0001c0001t0025others(1): Show | a0001c0001t0012g0145 a0001c0001t0020g0003 a0001c0001t0025g0093 others(1): Show |
4 | 230 | 0.0174 | -43 | c.544 others(62): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89361411 | CCACCACC others(36): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03492.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0058a0001c0001t0090a0001c0003t0083 | a0001c0001t0058g0082 a0001c0001t0090g0155 a0001c0003t0083g0215 |
3 | 230 | 0.0130 | -43 | c.544 others(62): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1315505 | CCTAGGCA others(36): Show |
C | downstream_gene_variant | MODIFIER | NA19007.hp2 | a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0000 | 1 | 406 | 0.0025 | -43 | c.*15 others(54): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 748 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1315530 | CATGGATT others(36): Show |
C | downstream_gene_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0000 | 1 | 406 | 0.0025 | -43 | c.*16 others(54): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 773 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1316228 | ACAAAGGT others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02027.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0000 | 1 | 406 | 0.0025 | -43 | c.*23 others(54): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 1471 | chr6 | TogoVar | |||||||
FRG2_chr4_190019367_190032256 | 190030319 | TAAAGATG others(36): Show |
T | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 400 | 0.0025 | -43 | c.-31 others(54): Show |
FRG2 | ENSG00000205097.7 | transcript | ENST00000504750.6 | protein_coding | 3064 | chr4 | TogoVar | |||||||
FRMD3_chr9_83239622_83543401 | 83357226 | TTATATAT others(36): Show |
T | intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 242 | 0.0041 | -43 | c.296 others(60): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 3/13 | chr9 | TogoVar | |||||||
FSIP1_chr15_39595031_39787841 | 39677444 | TTCAATTC others(36): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0123 | 1 | 254 | 0.0039 | -43 | c.118 others(64): Show |
FSIP1 | ENSG00000150667.8 | transcript | ENST00000350221.4 | protein_coding | 10/11 | chr15 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161779753 | GTAAAGTT others(36): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG03098.hp1 others(1): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0073 a0001c0001t0002g0017 a0001c0003t0002g0003 others(1): Show |
4 | 142 | 0.0282 | -43 | c.410 others(60): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FUT10_chr8_33365824_33478146 | 33380189 | CTATATAT others(36): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0033 | 1 | 268 | 0.0037 | -43 | c.121 others(62): Show |
FUT10 | ENSG00000172728.16 | transcript | ENST00000327671.10 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
FUT8_chr14_65407730_65749121 | 65628699 | GATTTTAC others(36): Show |
G | intron_variant | MODIFIER | HG00544.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 |
2 | 374 | 0.0054 | -43 | c.483 others(58): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50340880 | AATATTAC others(36): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01168.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0305 a0001c0001t0002g0023 a0001c0001t0002g0025 others(13): Show |
17 | 366 | 0.0465 | -43 | c.-1+ others(60): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764160 | AAAAAAAA others(36): Show |
A | intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 204 | 0.0049 | -43 | c.240 others(60): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89292357 | TATATATA others(36): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(163): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0046 others(161): Show |
166 | 366 | 0.4536 | -43 | c.220 others(60): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GAK_chr4_844277_937316 | 918890 | CGCCCCAT others(36): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0024 | a0001c0001t0001a0001c0002t0001a0001c0024t0001 | a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show |
6 | 390 | 0.0154 | -43 | c.146 others(60): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 918980 | CCATGACC others(36): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0182 others(2): Show |
5 | 390 | 0.0128 | -43 | c.146 others(60): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807369 | CAGCTTCC others(36): Show |
C | downstream_gene_variant | MODIFIER | HG01346.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0007 | 1 | 314 | 0.0032 | -43 | c.*32 others(54): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3083 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807370 | AGCTTCCC others(36): Show |
A | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 314 | 0.0032 | -43 | c.*32 others(54): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3084 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807564 | ACCTTCCC others(36): Show |
A | downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 314 | 0.0032 | -43 | c.*33 others(54): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3278 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807845 | ACCCTCCC others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp1 NA18943.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0177 a0002c0002t0001g0018 |
2 | 314 | 0.0064 | -43 | c.*36 others(54): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3559 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241807970 | ACCCTCCC others(36): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0125 | 1 | 314 | 0.0032 | -43 | c.*38 others(54): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3684 | chr2 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132333026 | GCATGTAC others(36): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00423.hp1 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(25): Show | a0001c0001t0001g0051 a0001c0001t0001g0059 a0001c0001t0001g0062 others(63): Show |
66 | 183 | 0.3607 | -43 | c.-38 others(54): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 3438 | chr12 | TogoVar | |||||||
GCA_chr2_162339132_162368123 | 162366247 | TTTACTGG others(36): Show |
T | downstream_gene_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 366 | 0.0027 | -43 | c.*60 others(54): Show |
GCA | ENSG00000115271.11 | transcript | ENST00000437150.7 | protein_coding | 3125 | chr2 | TogoVar | |||||||
GCFC2_chr2_75657705_75715915 | 75672291 | ATATATAT others(36): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0006 | a0006c0009 | a0006c0009t0005 | a0006c0009t0005g0278 | 1 | 404 | 0.0025 | -43 | c.189 others(60): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 13/16 | chr2 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880556 | TATATATA others(36): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 346 | 0.0029 | -43 | c.344 others(62): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880588 | TATATATA others(36): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 346 | 0.0029 | -43 | c.344 others(62): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116207107 | TATTTTCT others(36): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(131): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0001g0091 others(131): Show |
134 | 214 | 0.6262 | -43 | c.433 others(60): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42579112 | TAGATAGA others(36): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013 | a0001c0001t0002g0137 a0001c0001t0005g0067 a0001c0001t0013g0065 |
3 | 210 | 0.0143 | -43 | c.70+ others(60): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579116 | TAGATAGA others(36): Show |
T | intron_variant | MODIFIER | HG02280.hp1 NA18522.hp1 NA20300.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0015a0001c0012t0002 | a0001c0001t0015g0093 a0001c0001t0015g0094 a0001c0012t0002g0115 |
3 | 210 | 0.0143 | -43 | c.70+ others(60): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GHR_chr5_42418439_42726878 | 42579120 | TAGATAGA others(36): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0033 | 1 | 210 | 0.0048 | -43 | c.70+ others(60): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562276 | ATATATAT others(36): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 1 | 380 | 0.0026 | -43 | c.-41 others(54): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4098 | chr6 | TogoVar | |||||||
GJA8_chr1_147897795_147914269 | 147911874 | GTCTCCTT others(36): Show |
G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01123.hp2 HG01243.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0056 |
4 | 472 | 0.0085 | -43 | c.*26 others(54): Show |
GJA8 | ENSG00000121634.6 | transcript | ENST00000369235.2 | protein_coding | 2606 | chr1 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308432 | CACCACCA others(36): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02809.hp1 others(3): Show |
a0001a0009 | a0001c0001a0001c0003a0009c0019 | a0001c0001t0001a0001c0003t0002a0009c0019t0001 | a0001c0001t0001g0012 a0001c0001t0001g0035 a0001c0003t0002g0104 others(2): Show |
6 | 422 | 0.0142 | -43 | c.962 others(60): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63626408 | CCCTGCGG others(36): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0263 | 1 | 330 | 0.0030 | -43 | c.-58 others(58): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 1/9 | chr20 | TogoVar |