| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EML3_chr11_62597218_62617775 | 62602887 | C | CGCCTAGC others(16): Show |
frameshift_variant others(2): Show |
HIGH | NA19067.hp1 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0053 | 1 | 312 | 0.0032 | 23 | c.235 others(35): Show |
p.Val others(5): Show |
EML3 | ENSG00000149499.12 | transcript | ENST00000394773.7 | protein_coding | 21/22 | 2676/3266 | 2358/2691 | 786/896 | chr11 | TogoVar | ||
| ENDOU_chr12_47704734_47730490 | 47718186 | T | A | stop_gained | HIGH | NA18965.hp2 NA18966.hp2 NA18971.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0026a0003c0004t0001g0070a0003c0004t0001g0071 | 5 | 422 | 0.0119 | 0 | c.187 others(3): Show |
p.Lys others(3): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 3/10 | 264/2378 | 187/1233 | 63/410 | chr12 | TogoVar | ||
| ENDOV_chr17_80410167_80443086 | 80421894 | C | T | stop_gained | HIGH | NA18612.hp2 NA18942.hp1 NA19005.hp2 |
a0007 | a0007c0008 | a0007c0008t0003a0007c0008t0006 | a0007c0008t0003g0231a0007c0008t0003g0233a0007c0008t0006g0229 | 3 | 420 | 0.0071 | 0 | c.295 others(3): Show |
p.Arg others(3): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 3/10 | 323/2820 | 295/849 | 99/282 | chr17 | TogoVar | ||
| ENDOV_chr17_80410167_80443086 | 80422242 | C | T | stop_gained | HIGH | HG02735.hp2 | a0012 | a0012c0012 | a0012c0012t0002 | a0012c0012t0002g0186 | 1 | 420 | 0.0024 | 0 | c.400 others(3): Show |
p.Arg others(4): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 4/10 | 428/2820 | 400/849 | 134/282 | chr17 | TogoVar | ||
| ENTPD2_chr9_137043107_137059061 | 137051127 | G | T | stop_gained others(1): Show |
HIGH | HG03927.hp1 | a0005 | a0005c0013 | a0005c0013t0001 | a0005c0013t0001g0067 | 1 | 400 | 0.0025 | 0 | c.549 others(3): Show |
p.Tyr others(4): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 5/9 | 613/2102 | 549/1488 | 183/495 | chr9 | TogoVar | ||
| EOGT_chr3_68970225_69018684 | 69004436 | T | A | stop_gained | HIGH | HG00735.hp2 HG02615.hp1 HG02723.hp2 others(2): Show |
a0003 | a0003c0008 | a0003c0008t0001a0003c0008t0005a0003c0008t0029others(2): Show | a0003c0008t0001g0032a0003c0008t0005g0033a0003c0008t0029g0035others(2): Show | 5 | 444 | 0.0113 | 0 | c.562 others(3): Show |
p.Lys others(4): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 8/18 | 1028/4443 | 562/1584 | 188/527 | chr3 | TogoVar | ||
| EPG5_chr18_45842609_45972329 | 45955139 | A | C | stop_gained | HIGH | HG01169.hp1 | a0022 | a0022c0029 | a0022c0029t0001 | a0022c0029t0001g0059 | 1 | 304 | 0.0033 | 0 | c.263 others(3): Show |
p.Leu others(3): Show |
EPG5 | ENSG00000152223.16 | transcript | ENST00000282041.11 | protein_coding | 2/44 | 353/12688 | 263/7740 | 88/2579 | chr18 | TogoVar | ||
| EPHB6_chr7_142850076_142876093 | 142868500 | G | T | stop_gained | HIGH | HG06807.hp1 | a0012 | a0012c0016 | a0012c0016t0004 | a0012c0016t0004g0098 | 1 | 311 | 0.0032 | 0 | c.204 others(4): Show |
p.Gly others(4): Show |
EPHB6 | ENSG00000106123.12 | transcript | ENST00000652003.1 | protein_coding | 15/20 | 2788/3999 | 2047/3069 | 683/1022 | chr7 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143861843 | C | CCCTGGGC others(9552): Show |
frameshift_variant others(1): Show |
HIGH | NA19043.hp2 | a0025 | a0025c0162 | a0025c0162t0001 | a0025c0162t0001g0033 | 1 | 424 | 0.0024 | 9559 | c.114 others(9570): Show |
p.Gly others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11485/16005 | 11410/15267 | 3804/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143862162 | C | CGGCGGCG others(6401): Show |
stop_gained others(1): Show |
HIGH | HG02109.hp1 | a0073 | a0073c0339 | a0073c0339t0009 | a0073c0339t0009g0039 | 1 | 424 | 0.0024 | 6408 | c.110 others(6419): Show |
p.Ala others(6423): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11166/16005 | 11091/15267 | 3697/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143862200 | T | TCCCCCTG others(3199): Show |
frameshift_variant others(1): Show |
HIGH | HG04199.hp1 | a0086 | a0086c0189 | a0086c0189t0001 | a0086c0189t0001g0367 | 1 | 424 | 0.0024 | 3206 | c.110 others(3217): Show |
p.Glu others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11128/16005 | 11053/15267 | 3685/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143863719 | G | A | stop_gained | HIGH | HG02683.hp1 HG03710.hp1 |
a0230a0272 | a0230c0337a0272c0091 | a0230c0337t0002a0272c0091t0002 | a0230c0337t0002g0361a0272c0091t0002g0167 | 2 | 424 | 0.0047 | 0 | c.953 others(4): Show |
p.Gln others(5): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9610/16005 | 9535/15267 | 3179/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143863764 | C | CGGCGGCG others(17526): Show |
frameshift_variant others(1): Show |
HIGH | HG03041.hp2 | a0025 | a0025c0161 | a0025c0161t0001 | a0025c0161t0001g0196 | 1 | 424 | 0.0024 | 17533 | c.948 others(17542): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9564/16005 | 9489/15267 | 3163/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143864004 | C | CCCTGCTC others(3187): Show |
frameshift_variant others(1): Show |
HIGH | NA18957.hp2 | a0171 | a0171c0253 | a0171c0253t0001 | a0171c0253t0001g0085 | 1 | 424 | 0.0024 | 3194 | c.924 others(3203): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9324/16005 | 9249/15267 | 3083/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143864712 | C | CGGTGTAG others(6382): Show |
frameshift_variant others(1): Show |
HIGH | HG02896.hp1 | a0128 | a0128c0277 | a0128c0277t0022 | a0128c0277t0022g0032 | 1 | 424 | 0.0024 | 6389 | c.854 others(6398): Show |
p.Asp others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 8616/16005 | 8541/15267 | 2847/5088 | chr8 | TogoVar | ||
| EPPK1_chr8_143852324_143883467 | 143866778 | A | C | stop_gained | HIGH | HG00738.hp1 | a0210 | a0210c0263 | a0210c0263t0002 | a0210c0263t0002g0110 | 1 | 424 | 0.0024 | 0 | c.647 others(4): Show |
p.Leu others(5): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 6551/16005 | 6476/15267 | 2159/5088 | chr8 | TogoVar | ||
| EPSTI1_chr13_42881388_42997241 | 42926429 | G | C | stop_gained others(1): Show |
HIGH | HG01243.hp1 HG02451.hp1 HG03471.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0006a0003c0004t0011 | a0003c0004t0006g0241a0003c0004t0006g0333a0003c0004t0006g0335others(1): Show | 4 | 352 | 0.0114 | 0 | c.564 others(3): Show |
p.Tyr others(4): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 7/11 | 640/3106 | 564/924 | 188/307 | chr13 | TogoVar | ||
| EPX_chr17_58187726_58210174 | 58195140 | C | A | stop_gained | HIGH | HG03834.hp2 | a0019 | a0019c0023 | a0019c0023t0001 | a0019c0023t0001g0001 | 1 | 404 | 0.0025 | 0 | c.771 others(3): Show |
p.Cys others(4): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 6/13 | 892/2719 | 771/2148 | 257/715 | chr17 | TogoVar | ||
| ERAP1_chr5_96769484_96812945 | 96784035 | G | C | stop_gained | HIGH | HG02572.hp2 HG03098.hp1 |
a0016 | a0016c0021 | a0016c0021t0013 | a0016c0021t0013g0057a0016c0021t0013g0058 | 2 | 416 | 0.0048 | 0 | c.198 others(4): Show |
p.Tyr others(4): Show |
ERAP1 | ENSG00000164307.13 | transcript | ENST00000443439.7 | protein_coding | 14/19 | 2092/4841 | 1989/2826 | 663/941 | chr5 | TogoVar | ||
| ERICH1_chr8_659200_736224 | 673310 | G | A | stop_gained | HIGH | HG02572.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0119 | 1 | 378 | 0.0027 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 4/6 | 1105/1798 | 1042/1332 | 348/443 | chr8 | TogoVar | ||
| ERICH3_chr1_74563123_74678792 | 74572213 | G | T | stop_gained | HIGH | HG03704.hp1 | a0028 | a0028c0030 | a0028c0030t0002 | a0028c0030t0002g0127 | 1 | 290 | 0.0035 | 0 | c.349 others(4): Show |
p.Ser others(5): Show |
ERICH3 | ENSG00000178965.14 | transcript | ENST00000326665.10 | protein_coding | 14/15 | 3770/7201 | 3497/4593 | 1166/1530 | chr1 | TogoVar | ||
| ERICH5_chr8_98059568_98098609 | 98089753 | C | T | stop_gained | HIGH | HG00733.hp1 | a0010 | a0010c0011 | a0010c0011t0001 | a0010c0011t0001g0126 | 1 | 442 | 0.0023 | 0 | c.736 others(3): Show |
p.Gln others(4): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 2/3 | 838/1503 | 736/1125 | 246/374 | chr8 | TogoVar | ||
| ERN2_chr16_23685310_23718222 | 23700674 | C | A | stop_gained | HIGH | HG01256.hp2 HG01258.hp1 |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0042 | 2 | 412 | 0.0049 | 0 | c.139 others(4): Show |
p.Glu others(4): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 13/22 | 1425/3337 | 1390/2781 | 464/926 | chr16 | TogoVar | ||
| ERV3-1_chr7_64985356_65011687 | 64992360 | G | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp2 HG00558.hp2 others(60): Show |
a0003a0013 | a0003c0003a0013c0019 | a0003c0003t0001a0013c0019t0001 | a0003c0003t0001g0003a0003c0003t0001g0015a0003c0003t0001g0021others(12): Show | 63 | 458 | 0.1376 | 0 | c.667 others(3): Show |
p.Arg others(4): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2/2 | 1202/3206 | 667/1815 | 223/604 | chr7 | TogoVar | ||
| ERVMER34-1_chr4_52737553_52756425 | 52745317 | C | T | stop_gained | HIGH | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0007 | 7 | 392 | 0.0179 | 0 | c.204 others(3): Show |
p.Trp others(3): Show |
ERVMER34-1 | ENSG00000226887.8 | transcript | ENST00000443173.6 | protein_coding | 3/3 | 850/3614 | 204/1692 | 68/563 | chr4 | TogoVar | ||
| ESYT1_chr12_56123267_56149674 | 56142902 | C | T | stop_gained | HIGH | NA19070.hp2 | a0008 | a0008c0020 | a0008c0020t0001 | a0008c0020t0001g0006 | 1 | 370 | 0.0027 | 0 | c.295 others(4): Show |
p.Arg others(4): Show |
ESYT1 | ENSG00000139641.13 | transcript | ENST00000394048.10 | protein_coding | 27/31 | 3009/4180 | 2956/3315 | 986/1104 | chr12 | TogoVar | ||
| ESYT3_chr3_138429616_138484925 | 138451869 | G | GCCAGGGC others(173): Show |
stop_gained others(1): Show |
HIGH | HG01884.hp1 HG02451.hp1 HG02486.hp2 others(9): Show |
a0001a0002a0003 | a0001c0004a0001c0005a0002c0002others(1): Show | a0001c0004t0003a0001c0005t0001a0002c0002t0001others(1): Show | a0001c0004t0003g0102a0001c0005t0001g0125a0002c0002t0001g0041others(5): Show | 12 | 338 | 0.0355 | 180 | c.328 others(191): Show |
p.Ile others(193): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 2/23 | 516/5915 | 333/2661 | 111/886 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
| ESYT3_chr3_138429616_138484925 | 138476257 | A | T | stop_gained | HIGH | HG02735.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0178 | 1 | 338 | 0.0030 | 0 | c.250 others(4): Show |
p.Lys others(4): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 21/23 | 2686/5915 | 2503/2661 | 835/886 | chr3 | TogoVar | ||
| ESYT3_chr3_138429616_138484925 | 138476476 | A | T | stop_gained | HIGH | HG02735.hp2 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0178 | 1 | 338 | 0.0030 | 0 | c.260 others(4): Show |
p.Lys others(4): Show |
ESYT3 | ENSG00000158220.14 | transcript | ENST00000389567.9 | protein_coding | 22/23 | 2791/5915 | 2608/2661 | 870/886 | chr3 | TogoVar | ||
| EVA1C_chr21_32407706_32520387 | 32514930 | C | CTGGGGAG others(72): Show |
frameshift_variant others(1): Show |
HIGH | NA19090.hp2 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0223 | 1 | 346 | 0.0029 | 79 | c.108 others(88): Show |
p.Leu others(5): Show |
EVA1C | ENSG00000166979.13 | transcript | ENST00000300255.7 | protein_coding | 8/8 | 1230/1671 | 1082/1326 | 361/441 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
| EVPLL_chr17_18372778_18394647 | 18383140 | G | A | stop_gained | HIGH | HG02559.hp2 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0071 | 1 | 408 | 0.0025 | 0 | c.627 others(3): Show |
p.Trp others(4): Show |
EVPLL | ENSG00000214860.5 | transcript | ENST00000399134.5 | protein_coding | 7/11 | 869/1979 | 627/906 | 209/301 | chr17 | TogoVar | ||
| EXD3_chr9_137301896_137428162 | 137307024 | G | A | stop_gained | HIGH | HG01884.hp2 | a0019 | a0019c0019 | a0019c0019t0001 | a0019c0019t0001g0022 | 1 | 82 | 0.0122 | 0 | c.255 others(4): Show |
p.Arg others(4): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 22/22 | 2653/2781 | 2557/2631 | 853/876 | chr9 | TogoVar | ||
| EXOC3L1_chr16_67179379_67195136 | 67186328 | G | A | stop_gained | HIGH | NA20905.hp1 | a0009 | a0009c0019 | a0009c0019t0001 | a0009c0019t0001g0048 | 1 | 314 | 0.0032 | 0 | c.140 others(4): Show |
p.Arg others(4): Show |
EXOC3L1 | ENSG00000179044.16 | transcript | ENST00000314586.11 | protein_coding | 9/14 | 1578/2429 | 1405/2241 | 469/746 | chr16 | TogoVar | ||
| EXOG_chr3_38491340_38531303 | 38497743 | G | A | stop_gained | HIGH | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0043 | 1 | 412 | 0.0024 | 0 | c.278 others(3): Show |
p.Trp others(3): Show |
EXOG | ENSG00000157036.13 | transcript | ENST00000287675.10 | protein_coding | 2/6 | 306/3076 | 278/1107 | 93/368 | chr3 | TogoVar | ||
| FAAH2_chrX_57281706_57494193 | 57286901 | C | T | stop_gained | HIGH | NA19060.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0230 | 1 | 282 | 0.0036 | 0 | c.76C others(2): Show |
p.Arg others(3): Show |
FAAH2 | ENSG00000165591.7 | transcript | ENST00000374900.5 | protein_coding | 1/11 | 196/1980 | 76/1599 | 26/532 | chrX | TogoVar | ||
| FAAH_chr1_46389317_46418845 | 46408494 | C | G | stop_gained | HIGH | HG02486.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0001 | 1 | 370 | 0.0027 | 0 | c.987 others(3): Show |
p.Tyr others(4): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 8/15 | 1019/2042 | 987/1740 | 329/579 | chr1 | TogoVar | ||
| FAAH_chr1_46389317_46418845 | 46408496 | A | ACCCCACC others(7): Show |
frameshift_variant others(1): Show |
HIGH | HG02486.hp1 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0001 | 1 | 370 | 0.0027 | 14 | c.989 others(21): Show |
p.Glu others(5): Show |
FAAH | ENSG00000117480.16 | transcript | ENST00000243167.9 | protein_coding | 8/15 | 1022/2042 | 990/1740 | 330/579 | chr1 | TogoVar | ||
| FAHD2B_chr2_97078583_97099882 | 97090260 | C | T | stop_gained | HIGH | NA19084.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0078 | 1 | 414 | 0.0024 | 0 | c.311 others(3): Show |
p.Trp others(4): Show |
FAHD2B | ENSG00000144199.12 | transcript | ENST00000414820.6 | protein_coding | 4/9 | 625/1431 | 311/945 | 104/314 | chr2 | TogoVar | ||
| FAM110A_chr20_828715_851277 | 844829 | G | T | stop_gained | HIGH | NA19055.hp1 | a0004 | a0004c0008 | a0004c0008t0024 | a0004c0008t0024g0129 | 1 | 436 | 0.0023 | 0 | c.25G others(2): Show |
p.Gly others(2): Show |
FAM110A | ENSG00000125898.13 | transcript | ENST00000381941.8 | protein_coding | 2/2 | 359/1807 | 25/888 | 9/295 | chr20 | TogoVar | ||
| FAM118B_chr11_126206782_126267968 | 126256779 | T | A | stop_gained | HIGH | HG02523.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0167 | 1 | 346 | 0.0029 | 0 | c.909 others(3): Show |
p.Tyr others(4): Show |
FAM118B | ENSG00000197798.9 | transcript | ENST00000533050.6 | protein_coding | 7/9 | 1034/2016 | 909/1056 | 303/351 | chr11 | TogoVar | ||
| FAM151A_chr1_54604181_54628525 | 54611728 | C | T | stop_gained | HIGH | HG03195.hp1 HG03209.hp2 HG03225.hp1 |
a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0012 | 3 | 448 | 0.0067 | 0 | c.818 others(3): Show |
p.Trp others(4): Show |
FAM151A | ENSG00000162391.12 | transcript | ENST00000302250.7 | protein_coding | 6/8 | 948/1975 | 818/1758 | 273/585 | chr1 | TogoVar | ||
| FAM161B_chr14_73927276_73955094 | 73944542 | G | A | stop_gained | HIGH | HG02257.hp2 | a0011 | a0011c0015 | a0011c0015t0004 | a0011c0015t0004g0156 | 1 | 442 | 0.0023 | 0 | c.718 others(3): Show |
p.Arg others(4): Show |
FAM161B | ENSG00000156050.10 | transcript | ENST00000286544.5 | protein_coding | 3/9 | 786/3992 | 718/1944 | 240/647 | chr14 | TogoVar | ||
| FAM166A_chr9_137238599_137252751 | 137245789 | G | A | stop_gained | HIGH | HG03017.hp2 | a0007 | a0007c0025 | a0007c0025t0001 | a0007c0025t0001g0045 | 1 | 418 | 0.0024 | 0 | c.121 others(3): Show |
p.Gln others(3): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 2/7 | 157/1091 | 121/954 | 41/317 | chr9 | TogoVar | ||
| FAM166B_chr9_35556831_35568878 | 35562396 | A | ATAGT | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00438.hp1 HG00558.hp2 others(84): Show |
a0002a0003 | a0002c0003a0003c0004a0003c0005 | a0002c0003t0001a0002c0003t0002a0003c0004t0001others(1): Show | a0002c0003t0001g0003a0002c0003t0001g0015a0002c0003t0001g0017others(4): Show | 87 | 436 | 0.1995 | 4 | c.719 others(11): Show |
p.Tyr others(5): Show |
FAM166B | ENSG00000215187.13 | transcript | ENST00000399742.7 | protein_coding | 5/6 | 772/1054 | 722/828 | 241/275 | chr9 | TogoVar | ||
| FAM166C_chr2_26557587_26584524 | 26579306 | C | A | stop_gained | HIGH | NA18949.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0096 | 1 | 412 | 0.0024 | 0 | c.474 others(3): Show |
p.Cys others(4): Show |
FAM166C | ENSG00000173557.15 | transcript | ENST00000329615.4 | protein_coding | 4/4 | 500/718 | 474/606 | 158/201 | chr2 | TogoVar | ||
| FAM166C_chr2_26557587_26584524 | 26579320 | G | A | stop_gained | HIGH | NA18966.hp2 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0003 | 1 | 412 | 0.0024 | 0 | c.488 others(3): Show |
p.Trp others(4): Show |
FAM166C | ENSG00000173557.15 | transcript | ENST00000329615.4 | protein_coding | 4/4 | 514/718 | 488/606 | 163/201 | chr2 | TogoVar | ||
| FAM186A_chr12_50322309_50401609 | 50334087 | G | A | stop_gained | HIGH | HG00323.hp1 | a0030 | a0030c0040 | a0030c0040t0001 | a0030c0040t0001g0290 | 1 | 332 | 0.0030 | 0 | c.652 others(4): Show |
p.Arg others(5): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 5/8 | 6645/7255 | 6520/7056 | 2174/2351 | chr12 | TogoVar | ||
| FAM186A_chr12_50322309_50401609 | 50352589 | G | A | stop_gained | HIGH | NA19060.hp2 | a0026 | a0026c0034 | a0026c0034t0001 | a0026c0034t0001g0136 | 1 | 332 | 0.0030 | 0 | c.424 others(4): Show |
p.Gln others(5): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/8 | 4368/7255 | 4243/7056 | 1415/2351 | chr12 | TogoVar | ||
| FAM186A_chr12_50322309_50401609 | 50353192 | C | A | stop_gained | HIGH | NA18943.hp2 | a0020 | a0020c0031 | a0020c0031t0001 | a0020c0031t0001g0207 | 1 | 332 | 0.0030 | 0 | c.364 others(4): Show |
p.Glu others(5): Show |
FAM186A | ENSG00000185958.10 | transcript | ENST00000327337.6 | protein_coding | 4/8 | 3765/7255 | 3640/7056 | 1214/2351 | chr12 | TogoVar | ||
| FAM187B_chr19_35219800_35233739 | 35227988 | C | T | stop_gained | HIGH | HG00323.hp1 HG03490.hp2 HG03492.hp1 |
a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0022a0002c0009t0001g0031 | 3 | 450 | 0.0067 | 0 | c.693 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 752/1194 | 693/1110 | 231/369 | chr19 | TogoVar |