| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PCGF3_chr4_700832_775089 | 745102 | CGGGGTCG others(1245): Show |
C | intron_variant | MODIFIER | HG01175.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0266a0001c0001t0007g0364 | 2 | 366 | 0.0055 | -1252 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745293 | TTCGCCGT others(1245): Show |
T | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0278 | 1 | 366 | 0.0027 | -1252 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746037 | TCCGTGGA others(1245): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 366 | 0.0027 | -1252 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SNTG2_chr2_945849_1372613 | 1342275 | TGCTCTGT others(1245): Show |
T | intron_variant | MODIFIER | HG01099.hp1 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0096 | 1 | 190 | 0.0053 | -1252 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TRAPPC6B_chr14_39142814_39175333 | 39162865 | TTCAACCT others(1245): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02572.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0022a0001c0001t0009g0065a0001c0001t0009g0115others(3): Show | 14 | 430 | 0.0326 | -1252 | c.82- others(15): Show |
TRAPPC6B | ENSG00000182400.15 | transcript | ENST00000330149.10 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
| TRIM16_chr17_15622966_15689311 | 15637022 | TAAGAATT others(1245): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG00621.hp2 others(30): Show |
a0003a0004a0005others(3): Show | a0003c0025a0004c0003a0005c0009others(4): Show | a0003c0025t0004a0004c0003t0001a0004c0003t0004others(12): Show | a0003c0025t0004g0323a0004c0003t0001g0101a0004c0003t0004g0011others(29): Show | 33 | 360 | 0.0917 | -1252 | c.616 others(16): Show |
TRIM16 | ENSG00000221926.13 | transcript | ENST00000649191.2 | protein_coding | 8/11 | chr17 | TogoVar | ||||||
| ATP5MG_chr11_118396606_118414847 | 118410941 | AGTGGCTC others(1244): Show |
A | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0036 | 1 | 336 | 0.0030 | -1251 | c.*18 others(11): Show |
ATP5MG | ENSG00000167283.9 | transcript | ENST00000300688.8 | protein_coding | 1095 | chr11 | TogoVar | ||||||
| FARP2_chr2_241351285_241499841 | 241450557 | TCAGGAGG others(1244): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0360 | 1 | 378 | 0.0027 | -1251 | c.141 others(19): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 13/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745070 | GCCGTGGA others(1244): Show |
G | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0309 | 1 | 366 | 0.0027 | -1251 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745553 | CCCGGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0008a0001c0001t0012g0016 | 2 | 366 | 0.0055 | -1251 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745781 | CCCCGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0038 | a0001c0001t0027g0009a0001c0001t0038g0010 | 2 | 366 | 0.0055 | -1251 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745952 | CCCCGGGG others(1244): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 366 | 0.0027 | -1251 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| SPTBN4_chr19_40462001_40581464 | 40476691 | CATTCTCC others(1244): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0008 | a0008c0013 | a0008c0013t0001 | a0008c0013t0001g0143 | 1 | 234 | 0.0043 | -1251 | c.169 others(17): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TCERG1L_chr10_131087391_131316721 | 131191693 | AAAACCAA others(1244): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp1 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0058a0001c0001t0001g0079a0001c0001t0001g0082others(30): Show | 33 | 324 | 0.1019 | -1251 | c.857 others(19): Show |
TCERG1L | ENSG00000176769.9 | transcript | ENST00000368642.4 | protein_coding | 4/11 | chr10 | TogoVar | ||||||
| ZNF667_chr19_56434329_56482345 | 56444667 | GAAATTTC others(1244): Show |
G | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0072 | 1 | 362 | 0.0028 | -1251 | c.254 others(17): Show |
ZNF667 | ENSG00000198046.13 | transcript | ENST00000504904.8 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91240099 | AGAGTCTT others(1243): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG01099.hp2 HG01192.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0002g0027others(25): Show | 28 | 38 | 0.7368 | -1250 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | chr4 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765405 | CTTGGGGA others(1243): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG03139.hp2 |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0005 | a0002c0002t0013a0003c0003t0013a0004c0005t0013 | a0002c0002t0013g0152a0003c0003t0013g0352a0004c0005t0013g0149 | 3 | 412 | 0.0073 | -1250 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| HSD17B14_chr19_48808018_48841491 | 48834444 | GAGGTGCT others(1243): Show |
G | intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 1 | 394 | 0.0025 | -1250 | c.127 others(14): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 2/8 | chr19 | TogoVar | ||||||
| P2RX5_chr17_3668227_3701155 | 3686129 | CAGAACAG others(1243): Show |
C | intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 362 | 0.0028 | -1250 | c.981 others(16): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | ||||||
| PLEKHA4_chr19_48832097_48873617 | 48834444 | GAGGTGCT others(1243): Show |
G | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0041 | 1 | 300 | 0.0033 | -1250 | c.*15 others(11): Show |
PLEKHA4 | ENSG00000105559.13 | transcript | ENST00000263265.11 | protein_coding | 2652 | chr19 | TogoVar | ||||||
| SIRT4_chr12_120297321_120318249 | 120312031 | CCAGCACT others(1243): Show |
C | exon_loss_variant | HIGH | NA18974.hp2 | a0000 | a0000c0006 | a0000c0006t0003 | a0000c0006t0003g0067 | 1 | 380 | 0.0026 | -1250 | c.498 others(12): Show |
SIRT4 | ENSG00000089163.4 | transcript | ENST00000202967.4 | protein_coding | 3/4 | chr12 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1344972 | TCCCCCTG others(1243): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0150a0004c0004t0001g0151 | 2 | 190 | 0.0105 | -1250 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| TAF4_chr20_61969798_62070881 | 62057603 | CCAGCAAG others(1243): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0177 | 1 | 314 | 0.0032 | -1250 | c.136 others(19): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| CCSER1_chr4_90122394_91610295 | 91240324 | ACCTCAGC others(1242): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02723.hp2 HG03139.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0004a0001c0008t0019 | a0001c0001t0001g0032a0001c0001t0004g0022a0001c0008t0019g0029 | 3 | 38 | 0.0790 | -1249 | c.221 others(23): Show |
CCSER1 | ENSG00000184305.16 | transcript | ENST00000509176.6 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| KIAA1217_chr10_24204138_24552843 | 24280549 | TGCCTGTA others(1242): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0007 | a0007c0029 | a0007c0029t0002 | a0007c0029t0002g0232 | 1 | 240 | 0.0042 | -1249 | c.354 others(19): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| DOC2B_chr17_137789_186650 | 166707 | CGTAGTGA others(1241): Show |
C | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0034 | a0001c0002t0034g0091 | 1 | 339 | 0.0030 | -1248 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| DOC2B_chr17_137789_186650 | 166843 | GTTCTTGA others(1241): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG01928.hp1 HG01928.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0135a0001c0001t0002g0137a0001c0001t0002g0238others(1): Show | 4 | 339 | 0.0118 | -1248 | c.454 others(17): Show |
DOC2B | ENSG00000272636.5 | transcript | ENST00000613549.3 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
| MAP7_chr6_136337734_136555422 | 136530537 | ATCAAACA others(1241): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01074.hp1 HG01123.hp2 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0063a0001c0001t0001g0072others(54): Show | 57 | 248 | 0.2298 | -1248 | c.67+ others(17): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 1/17 | chr6 | TogoVar | ||||||
| MUC4_chr3_195741771_195816929 | 195778856 | CAAGAGGG others(1241): Show |
C | conservative_inframe_deletion | MODERATE | HG02451.hp2 | a0072 | a0072c0173 | a0072c0173t0004 | a0072c0173t0004g0225 | 1 | 249 | 0.0040 | -1248 | c.114 others(11): Show |
p.Pro others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12835/16756 | 11476/16239 | 3826/5412 | chr3 | TogoVar | ||
| MUC4_chr3_195741771_195816929 | 195778871 | GACCTGTG others(1241): Show |
G | conservative_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG01106.hp2 others(3): Show |
a0026a0097a0175others(2): Show | a0026c0009a0097c0129a0175c0031others(2): Show | a0026c0009t0002a0097c0129t0002a0175c0031t0001others(2): Show | a0026c0009t0002g0112a0026c0009t0002g0192a0097c0129t0002g0188others(3): Show | 6 | 249 | 0.0241 | -1248 | c.114 others(11): Show |
p.Asp others(15): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 12820/16756 | 11461/16239 | 3821/5412 | chr3 | TogoVar | ||
| S1PR4_chr19_3173769_3185332 | 3174260 | GCCTGTGT others(1241): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 418 | 0.0024 | -1248 | c.-45 others(11): Show |
S1PR4 | ENSG00000125910.6 | transcript | ENST00000246115.5 | protein_coding | 4508 | chr19 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245975805 | TAGGGAAA others(1241): Show |
T | intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0097 | 1 | 150 | 0.0067 | -1248 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1106744 | ATGGACAC others(1241): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG01081.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(6): Show | a0001c0001t0001g0141a0001c0002t0001g0017a0001c0002t0001g0029others(11): Show | 14 | 190 | 0.0737 | -1248 | c.325 others(17): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| VAV2_chr9_133756894_133997324 | 133827201 | GCATGGGC others(1241): Show |
G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0089 | 1 | 200 | 0.0050 | -1248 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| VAV2_chr9_133756894_133997324 | 133827226 | TGCCCACT others(1241): Show |
T | intron_variant | MODIFIER | HG02004.hp1 | a0005 | a0005c0024 | a0005c0024t0002 | a0005c0024t0002g0132 | 1 | 200 | 0.0050 | -1248 | c.449 others(17): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343087 | CGGCAGCT others(1240): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 190 | 0.0053 | -1247 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FEZ2_chr2_36547258_36603168 | 36593183 | AGGAGGCC others(1239): Show |
A | intron_variant | MODIFIER | HG02080.hp2 NA18956.hp2 NA18962.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0149a0001c0001t0001g0150others(3): Show | 8 | 404 | 0.0198 | -1246 | c.267 others(17): Show |
FEZ2 | ENSG00000171055.15 | transcript | ENST00000405912.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
| FEZ2_chr2_36547258_36603168 | 36593209 | ACAAAAGG others(1239): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 NA18955.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0154a0001c0001t0001g0155others(1): Show | 5 | 404 | 0.0124 | -1246 | c.266 others(17): Show |
FEZ2 | ENSG00000171055.15 | transcript | ENST00000405912.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
| HNRNPF_chr10_43380618_43414186 | 43391144 | CTAGCCGG others(1239): Show |
C | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0195 | 1 | 364 | 0.0028 | -1246 | c.-53 others(17): Show |
HNRNPF | ENSG00000169813.17 | transcript | ENST00000682386.1 | protein_coding | 3/3 | chr10 | TogoVar | ||||||
| SLC9A4_chr2_102468226_102538972 | 102493191 | TTCTGAGC others(1238): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02886.hp2 HG03209.hp2 |
a0001a0002 | a0001c0005a0002c0012 | a0001c0005t0026a0002c0012t0011 | a0001c0005t0026g0052a0002c0012t0011g0053a0002c0012t0011g0054 | 3 | 382 | 0.0079 | -1245 | c.721 others(18): Show |
SLC9A4 | ENSG00000180251.5 | transcript | ENST00000295269.5 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1343274 | CCCCTGTT others(1238): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG04115.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0112a0004c0004t0001g0150a0004c0004t0001g0151 | 3 | 190 | 0.0158 | -1245 | c.148 others(21): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ATP11A_chr13_112685038_112892168 | 112864142 | CCAGCGGG others(1237): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0010 | a0002c0010t0010 | a0002c0010t0010g0222 | 1 | 254 | 0.0039 | -1244 | c.299 others(19): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| LAPTM4B_chr8_97770788_97858013 | 97849837 | CTGTGTGT others(1237): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0027 | a0001c0001t0006g0042a0001c0001t0006g0083a0001c0001t0006g0119others(3): Show | 6 | 380 | 0.0158 | -1244 | c.604 others(16): Show |
LAPTM4B | ENSG00000104341.17 | transcript | ENST00000521545.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NLRC4_chr2_32219453_32269886 | 32253978 | AAAAAAAG others(1237): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0386a0001c0003t0001g0387 | 2 | 394 | 0.0051 | -1244 | c.1+1 others(13): Show |
NLRC4 | ENSG00000091106.19 | transcript | ENST00000402280.6 | protein_coding | 2/8 | chr2 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1237976 | GCCTCCCG others(1236): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03041.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0030a0001c0003t0032 | a0001c0001t0030g0034a0001c0003t0032g0071 | 2 | 106 | 0.0189 | -1243 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| FOXN3_chr14_89151177_89422233 | 89360723 | ACCACCAC others(1236): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 230 | 0.0044 | -1243 | c.544 others(18): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | ||||||
| RPUSD2_chr15_40564299_40579949 | 40578378 | TTTTTTGT others(1236): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 2 | 392 | 0.0051 | -1243 | c.*41 others(11): Show |
RPUSD2 | ENSG00000166133.18 | transcript | ENST00000315616.12 | protein_coding | 3430 | chr15 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 991497 | AGACCCCC others(1235): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0001 | a0002c0001t0019 | a0002c0001t0019g0030 | 1 | 40 | 0.0250 | -1242 | c.73+ others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114085103 | GTCCTCGC others(1235): Show |
G | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 67 | 0.0149 | -1242 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| ARHGEF10_chr8_1818926_1963641 | 1889417 | GAGTGGGG others(1234): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0220 | 1 | 363 | 0.0028 | -1241 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |