| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MYO9B_chr19_17070777_17218286 | 17117775 | TAAAAATA others(2219): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0036 | a0003c0036t0003 | a0003c0036t0003g0012 | 1 | 260 | 0.0038 | -2226 | c.840 others(19): Show |
MYO9B | ENSG00000099331.14 | transcript | ENST00000682292.1 | protein_coding | 2/39 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ATP8B3_chr19_1777075_1817276 | 1797531 | GCTCTGTC others(2217): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 |
a0001 | a0001c0030a0001c0037 | a0001c0030t0009a0001c0037t0009 | a0001c0030t0009g0109 a0001c0037t0009g0201 |
2 | 388 | 0.0052 | -2224 | c.155 others(17): Show |
ATP8B3 | ENSG00000130270.16 | transcript | ENST00000310127.10 | protein_coding | 14/28 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1400181 | AGAGTCGT others(2217): Show |
A | intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022 | 1 | 40 | 0.0250 | -2224 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PDSS2_chr6_107147562_107464564 | 107223059 | CTGCCTCA others(2217): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02886.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0100 others(8): Show |
11 | 258 | 0.0426 | -2224 | c.703 others(19): Show |
PDSS2 | ENSG00000164494.12 | transcript | ENST00000369037.9 | protein_coding | 4/7 | chr6 | TogoVar | |||||||
| ARRDC5_chr19_4885437_4907896 | 4885871 | GAAGGTGG others(2215): Show |
G | downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 378 | 0.0026 | -2222 | c.*29 others(11): Show |
ARRDC5 | ENSG00000205784.4 | transcript | ENST00000650722.2 | protein_coding | 4565 | chr19 | TogoVar | |||||||
| RIBC2_chr22_45408693_45437509 | 45419140 | CTTTAAAT others(2215): Show |
C | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 422 | 0.0024 | -2222 | c.556 others(16): Show |
RIBC2 | ENSG00000128408.9 | transcript | ENST00000614167.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637082 | TGAGATAA others(2214): Show |
T | intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 213 | 0.0047 | -2221 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429691 | CGGTCTGG others(2214): Show |
C | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 354 | 0.0028 | -2221 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1430049 | TCAGCAGT others(2214): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0277 | 1 | 346 | 0.0029 | -2221 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SAAL1_chr11_18075292_18111082 | 18076345 | ATGGTGGC others(2214): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01192.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 282 | 0.0142 | -2221 | c.*18 others(11): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 3946 | chr11 | TogoVar | |||||||
| CYP4F11_chr19_15907377_15939529 | 15931723 | AGGAGAGG others(2213): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0007 | a0004c0007t0145 | a0004c0007t0145g0205 | 1 | 317 | 0.0032 | -2220 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
| ASMT_chrX_1610059_1648081 | 1637095 | GTGTCCCA others(2212): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 a0001c0001t0001g0077 |
2 | 221 | 0.0090 | -2219 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1405156 | CGTCCTCC others(2212): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | -2219 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1405170 | GTGTATTG others(2212): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -2219 | c.107 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744757 | CCGGGGGT others(2212): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 364 | 0.0027 | -2219 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PRKCZ_chr1_2045411_2190395 | 2121928 | CGTCATGG others(2212): Show |
C | intron_variant | MODIFIER | HG03516.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0164 a0001c0001t0002g0028 |
2 | 61 | 0.0328 | -2219 | c.335 others(19): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MID1_chrX_10440556_10625585 | 10560823 | CCCCATCA others(2211): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01167.hp1 HG02559.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0007others(2): Show | a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0044 others(13): Show |
16 | 163 | 0.0982 | -2218 | c.660 others(17): Show |
MID1 | ENSG00000101871.18 | transcript | ENST00000317552.9 | protein_coding | 2/9 | chrX | TogoVar | |||||||
| PCGF3_chr4_700832_775089 | 745156 | CCCGGGGT others(2211): Show |
C | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0307 | 1 | 337 | 0.0030 | -2218 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| ASMT_chrX_1610059_1648081 | 1637160 | GTGTATGA others(2210): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 221 | 0.0045 | -2217 | c.910 others(16): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ZDHHC13_chr11_19112168_19181415 | 19159517 | TTGCCACT others(2210): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02647.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0209 a0001c0001t0001g0210 |
4 | 348 | 0.0115 | -2217 | c.110 others(18): Show |
ZDHHC13 | ENSG00000177054.14 | transcript | ENST00000446113.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ARHGAP42_chr11_100682288_100998941 | 100807056 | CAGGCTGG others(2207): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 284 | 0.0035 | -2214 | c.312 others(19): Show |
ARHGAP42 | ENSG00000165895.19 | transcript | ENST00000298815.13 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| ZNG1C_chr9_68236983_68305035 | 68289057 | TTAAAAAT others(2205): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02559.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0192 a0002c0002t0001g0300 a0002c0002t0001g0301 others(3): Show |
6 | 322 | 0.0186 | -2212 | c.816 others(17): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805548 | CGCAGGCC others(2204): Show |
C | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 256 | 0.0039 | -2211 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3644 | chr2 | TogoVar | |||||||
| SQSTM1_chr5_179815905_179843078 | 179826251 | CCCTCCTG others(2202): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0112 | 1 | 460 | 0.0022 | -2209 | c.754 others(17): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| EIF3E_chr8_108196216_108253717 | 108223721 | CTGCCACC others(2199): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0011 | a0001c0001t0004g0027 a0001c0001t0004g0166 a0001c0001t0004g0169 others(5): Show |
8 | 346 | 0.0231 | -2206 | c.722 others(17): Show |
EIF3E | ENSG00000104408.11 | transcript | ENST00000220849.10 | protein_coding | 7/12 | chr8 | TogoVar | |||||||
| RAB27B_chr18_54823477_54900516 | 54834719 | GAAGAGAT others(2199): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 |
3 | 332 | 0.0090 | -2206 | c.-20 others(17): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| GABRG1_chr4_46030769_46129054 | 46053973 | CAATAGTC others(2198): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(135): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0003others(18): Show | a0001c0001t0002g0160 a0001c0002t0002g0001 a0001c0002t0002g0004 others(126): Show |
138 | 306 | 0.4510 | -2205 | c.916 others(17): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | |||||||
| GCFC2_chr2_75657705_75715915 | 75681314 | GGAAGCAC others(2198): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp2 |
a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0052 a0004c0003t0002g0068 |
2 | 402 | 0.0050 | -2205 | c.169 others(19): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 11/16 | chr2 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805204 | CCACCTTC others(2196): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 312 | 0.0032 | -2203 | c.*10 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 918 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805204 | CCACCTTC others(2196): Show |
C | upstream_gene_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0144 | 1 | 318 | 0.0031 | -2203 | c.-40 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3988 | chr2 | TogoVar | |||||||
| TRNT1_chr3_3121940_3154023 | 3131463 | AAACTGGC others(2196): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18940.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 a0001c0001t0006g0129 a0001c0001t0006g0164 |
8 | 400 | 0.0200 | -2203 | c.148 others(17): Show |
TRNT1 | ENSG00000072756.18 | transcript | ENST00000251607.11 | protein_coding | 2/7 | chr3 | TogoVar | |||||||
| ATAD3A_chr1_1507162_1539685 | 1508183 | AGCCACAG others(2194): Show |
A | upstream_gene_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0005a0009 | a0005c0009a0009c0017 | a0005c0009t0008a0009c0017t0008 | a0005c0009t0008g0045 a0005c0009t0008g0046 a0005c0009t0008g0047 others(1): Show |
5 | 420 | 0.0119 | -2201 | c.-40 others(11): Show |
ATAD3A | ENSG00000197785.14 | transcript | ENST00000378756.8 | protein_coding | 3978 | chr1 | TogoVar | |||||||
| GALNT9_chr12_132191372_132334589 | 132231473 | CAGAGGAG others(2194): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0016a0001c0017 | a0001c0001t0001a0001c0016t0001a0001c0017t0001 | a0001c0001t0001g0072 a0001c0016t0001g0054 a0001c0016t0001g0147 others(2): Show |
5 | 181 | 0.0276 | -2201 | c.107 others(21): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
| RNF213_chr17_80255852_80403794 | 80313699 | GGATGGTG others(2193): Show |
G | intron_variant | MODIFIER | HG02818.hp2 | a0028 | a0028c0100 | a0028c0100t0015 | a0028c0100t0015g0252 | 1 | 290 | 0.0034 | -2200 | c.281 others(18): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| ZFAND3_chr6_37814727_38159624 | 38157424 | TAAAAGGC others(2193): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 316 | 0.0032 | -2200 | c.*50 others(11): Show |
ZFAND3 | ENSG00000156639.12 | transcript | ENST00000287218.9 | protein_coding | 2801 | chr6 | TogoVar | |||||||
| PRSS57_chr19_680546_700452 | 696664 | CTGGGATT others(2189): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG03209.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0138 a0002c0003t0001g0142 |
2 | 440 | 0.0045 | -2196 | c.-34 others(11): Show |
PRSS57 | ENSG00000185198.12 | transcript | ENST00000329267.9 | protein_coding | 1213 | chr19 | TogoVar | |||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2188): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0052 a0001c0001t0003g0064 a0001c0001t0003g0122 others(11): Show |
14 | 246 | 0.0569 | -2195 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| MYO9A_chr15_71817291_72123150 | 72093624 | AGCCTGTA others(2186): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(83): Show |
a0001a0012a0014others(5): Show | a0001c0001a0012c0015a0014c0034others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(10): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0114 others(83): Show |
86 | 306 | 0.2810 | -2193 | c.-72 others(19): Show |
MYO9A | ENSG00000066933.17 | transcript | ENST00000356056.10 | protein_coding | 1/41 | chr15 | TogoVar | |||||||
| ZNF385D_chr3_21407218_21756210 | 21682212 | GTTTAGCT others(2186): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02630.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0013a0001c0001t0039a0001c0002t0028others(2): Show | a0001c0001t0013g0218 a0001c0001t0039g0016 a0001c0002t0028g0143 others(2): Show |
5 | 237 | 0.0211 | -2193 | c.23- others(17): Show |
ZNF385D | ENSG00000151789.13 | transcript | ENST00000281523.8 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
| STARD6_chr18_54319492_54362858 | 54342407 | TAAGAAAA others(2185): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp1 HG01069.hp1 others(20): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0026 a0002c0003t0002g0050 a0002c0003t0002g0051 others(16): Show |
23 | 348 | 0.0661 | -2192 | c.141 others(17): Show |
STARD6 | ENSG00000174448.9 | transcript | ENST00000307844.4 | protein_coding | 4/7 | chr18 | TogoVar | |||||||
| TAOK1_chr17_29385363_29556903 | 29455163 | AGCCTCCC others(2185): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0015a0001c0001t0019a0001c0001t0024others(5): Show | a0001c0001t0015g0079 a0001c0001t0015g0082 a0001c0001t0015g0083 others(10): Show |
13 | 324 | 0.0401 | -2192 | c.132 others(17): Show |
TAOK1 | ENSG00000160551.12 | transcript | ENST00000261716.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| AKAP13_chr15_85375603_85754355 | 85513776 | CTTTTCCG others(2184): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01070.hp1 others(68): Show |
a0001a0002a0003others(15): Show | a0001c0002a0001c0004a0001c0007others(24): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(37): Show | a0001c0002t0001g0005 a0001c0002t0006g0008 a0001c0002t0006g0009 others(68): Show |
71 | 312 | 0.2276 | -2191 | c.34- others(15): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132821920 | GTGTGTGC others(2183): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0096 | a0001c0096t0002 | a0001c0096t0002g0033 | 1 | 244 | 0.0041 | -2190 | c.711 others(19): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | |||||||
| MMP16_chr8_88027011_88332483 | 88085885 | GAGTTTAG others(2183): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 184 | 0.0054 | -2190 | c.108 others(21): Show |
MMP16 | ENSG00000156103.16 | transcript | ENST00000286614.11 | protein_coding | 6/9 | chr8 | TogoVar | |||||||
| ZYG11A_chr1_52837760_52899998 | 52889964 | TGGCCTCC others(2179): Show |
T | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp2 HG03453.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0010a0003c0003t0010a0003c0003t0012 | a0001c0001t0010g0006 a0001c0001t0010g0255 a0003c0003t0010g0082 others(2): Show |
5 | 288 | 0.0174 | -2186 | c.210 others(18): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 1395817 | CTCCCTCG others(2178): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0020 | 1 | 40 | 0.0250 | -2185 | c.107 others(21): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
| FAT2_chr5_151499092_151596331 | 151501246 | TCATAATT others(2178): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01243.hp2 HG01433.hp2 others(32): Show |
a0001a0002a0003others(12): Show | a0001c0010a0001c0020a0001c0047others(18): Show | a0001c0010t0001a0001c0010t0004a0001c0020t0004others(19): Show | a0001c0010t0001g0360 a0001c0010t0004g0061 a0001c0020t0004g0219 others(32): Show |
35 | 396 | 0.0884 | -2185 | c.*21 others(11): Show |
FAT2 | ENSG00000086570.13 | transcript | ENST00000261800.6 | protein_coding | 2845 | chr5 | TogoVar | |||||||
| NUP205_chr7_135552917_135653753 | 135588198 | TGACGCGA others(2178): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG01978.hp1 others(10): Show |
a0002 | a0002c0006a0002c0019 | a0002c0006t0001a0002c0019t0001 | a0002c0006t0001g0010 a0002c0006t0001g0013 a0002c0006t0001g0014 others(10): Show |
13 | 350 | 0.0371 | -2185 | c.147 others(18): Show |
NUP205 | ENSG00000155561.15 | transcript | ENST00000285968.11 | protein_coding | 10/42 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| SMYD3_chr1_245744347_246512279 | 245974581 | CAGGGAAA others(2177): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 | 1 | 139 | 0.0072 | -2184 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| CD2AP_chr6_47472789_47632263 | 47596993 | CATGTTGA others(2174): Show |
C | intron_variant | MODIFIER | HG02683.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0031 | a0001c0001t0003g0108 a0001c0001t0031g0107 |
2 | 320 | 0.0063 | -2181 | c.127 others(17): Show |
CD2AP | ENSG00000198087.7 | transcript | ENST00000359314.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |