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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(332): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(24): Show |
335 | 382 | 0.8770 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
FUZ_chr19_49801866_49818292 | 49807343 | C | CTCATCTT others(3): Show |
frameshift_variant others(1): Show |
HIGH | NA18978.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0080 | 1 | 408 | 0.0025 | 10 | c.105 others(19): Show |
p.Glu others(5): Show |
FUZ | ENSG00000010361.14 | transcript | ENST00000313777.9 | protein_coding | 11/11 | 1250/1728 | 1064/1257 | 355/418 | chr19 | TogoVar | |||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(144): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0007 others(74): Show |
147 | 428 | 0.3435 | 0 | c.487 others(3): Show |
p.Gly others(4): Show |
GAB4 | ENSG00000215568.9 | transcript | ENST00000400588.5 | protein_coding | 3/10 | 595/2630 | 487/1725 | 163/574 | chr22 | TogoVar | |||
GDPD4_chr11_77211558_77306686 | 77243743 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(81): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0004a0006c0006others(1): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(6): Show | a0003c0003t0001g0042 a0003c0003t0001g0055 a0003c0003t0001g0073 others(79): Show |
84 | 348 | 0.2414 | 1 | c.119 others(5): Show |
p.Ile others(5): Show |
GDPD4 | ENSG00000178795.10 | transcript | ENST00000315938.5 | protein_coding | 13/17 | 1526/2617 | 1191/1563 | 397/520 | chr11 | TogoVar | |||
GJC3_chr7_99918266_99934620 | 99929620 | T | C | start_lost | HIGH | NA18978.hp1 NA19000.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0023 | 2 | 390 | 0.0051 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
GJC3 | ENSG00000176402.6 | transcript | ENST00000312891.3 | protein_coding | 1/2 | 1/1119 | 1/840 | 1/279 | chr7 | TogoVar | |||
GK3_chr4_165272807_165284704 | 165278433 | G | A | stop_gained | HIGH | NA18978.hp2 | a0013 | a0013c0022 | a0013c0022t0001 | a0013c0022t0001g0000 | 1 | 382 | 0.0026 | 0 | c.121 others(4): Show |
p.Arg others(4): Show |
GK3 | ENSG00000229894.5 | transcript | ENST00000505354.3 | protein_coding | 1/1 | 1272/1898 | 1213/1662 | 405/553 | chr4 | TogoVar | |||
GLT6D1_chr9_135618648_135644540 | 135624500 | CA | C | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0003a0002c0004a0002c0007others(5): Show | a0002c0003t0001a0002c0004t0003a0002c0004t0007others(7): Show | a0002c0003t0001g0004 a0002c0003t0001g0011 a0002c0003t0001g0032 others(50): Show |
87 | 434 | 0.2005 | -1 | c.427 others(4): Show |
p.Trp others(5): Show |
GLT6D1 | ENSG00000204007.8 | transcript | ENST00000371763.6 | protein_coding | 5/5 | 681/1534 | 427/831 | 143/276 | chr9 | TogoVar | |||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0002g0002 others(1): Show |
101 | 443 | 0.2280 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
GOLGA6L1_chr15_23122066_23141822 | 23136652 | AGGTGGGG others(46): Show |
A | frameshift_variant | HIGH | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 204 | 0.0049 | -53 | c.27_ others(58): Show |
p.Thr others(4): Show |
GOLGA6L1 | ENSG00000273976.2 | transcript | ENST00000614055.2 | protein_coding | 1/9 | 170/3822 | 27/2007 | 9/668 | chr15 | TogoVar | |||
GOLGA6L22_chr15_22453903_22474226 | 22466823 | T | C | stop_lost others(1): Show |
HIGH | HG00597.hp2 HG00673.hp2 HG02027.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0016 others(3): Show |
30 | 224 | 0.1339 | 0 | c.256 others(4): Show |
p.Ter others(11): Show |
GOLGA6L22 | ENSG00000277865.6 | transcript | ENST00000622895.2 | protein_coding | 8/9 | 2654/4401 | 2563/2565 | 855/854 | chr15 | TogoVar | |||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(422): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(81): Show |
425 | 446 | 0.9529 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | |||
GPR78_chr4_8575392_8595023 | 8582572 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(8): Show | a0004c0004t0001g0009 a0004c0004t0001g0173 a0004c0004t0002g0001 others(15): Show |
19 | 459 | 0.0414 | 1 | c.712 others(4): Show |
p.Arg others(5): Show |
GPR78 | ENSG00000155269.12 | transcript | ENST00000382487.5 | protein_coding | 2/3 | 1304/4343 | 713/1092 | 238/363 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
GSTM1_chr1_109682817_109698745 | 109682998 | TTCCAGTC others(15740): Show |
T | transcript_ablation | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(92): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 95 | 255 | 0.3725 | -15747 | c.-48 others(11): Show |
p.0? | GSTM1 | ENSG00000134184.13 | transcript | ENST00000309851.10 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0005 | a0002c0002a0002c0006a0005c0008 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0012 others(4): Show |
112 | 330 | 0.3394 | 0 | c.199 others(3): Show |
p.Gln others(3): Show |
H2BW2 | ENSG00000101812.15 | transcript | ENST00000675318.3 | protein_coding | 1/4 | 238/870 | 199/447 | 67/148 | chrX | TogoVar | |||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0008a0021 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0007others(5): Show | a0001c0001t0002g0165 a0001c0001t0002g0199 a0001c0001t0002g0207 others(88): Show |
96 | 366 | 0.2623 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | |||||||
HEPHL1_chr11_94016354_94119208 | 94093616 | C | T | stop_gained | HIGH | NA18978.hp2 | a0023 | a0023c0026 | a0023c0026t0001 | a0023c0026t0001g0349 | 1 | 366 | 0.0027 | 0 | c.241 others(4): Show |
p.Arg others(4): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 13/20 | 2425/5809 | 2410/3480 | 804/1159 | chr11 | TogoVar | |||
HNRNPD_chr4_82347498_82378991 | 82356546 | C | CACCATAT others(6): Show |
frameshift_variant | HIGH | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0155 | 1 | 330 | 0.0030 | 13 | c.978 others(20): Show |
p.Asp others(5): Show |
HNRNPD | ENSG00000138668.20 | transcript | ENST00000313899.12 | protein_coding | 7/9 | 1303/3068 | 990/1068 | 330/355 | chr4 | TogoVar | |||
HSD17B2_chr16_82030253_82103534 | 82098435 | A | G | stop_lost | HIGH | HG00408.hp1 HG00438.hp2 HG00544.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0003 | a0001c0001t0003g0295 a0001c0001t0003g0297 a0001c0001t0003g0303 others(16): Show |
20 | 364 | 0.0549 | 0 | c.116 others(4): Show |
p.Ter others(11): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 5/5 | 1335/1434 | 1163/1164 | 388/387 | chr16 | TogoVar | |||
IQCM_chr4_149346709_149820843 | 149352043 | G | A | stop_gained | HIGH | NA18978.hp2 NA18985.hp2 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0048 a0004c0007t0001g0212 |
2 | 250 | 0.0080 | 0 | c.141 others(4): Show |
p.Arg others(4): Show |
IQCM | ENSG00000234828.9 | transcript | ENST00000636793.2 | protein_coding | 14/14 | 1744/2078 | 1414/1506 | 472/501 | chr4 | TogoVar | |||
KANK2_chr19_11159270_11202545 | 11193579 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG01169.hp1 HG01257.hp1 others(7): Show |
a0002a0004 | a0002c0014a0002c0019a0004c0006others(2): Show | a0002c0014t0001a0002c0014t0007a0002c0019t0002others(5): Show | a0002c0014t0001g0198 a0002c0014t0007g0197 a0002c0019t0002g0344 others(7): Show |
10 | 392 | 0.0255 | 1 | c.500 others(4): Show |
p.Thr others(5): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/13 | 839/5183 | 500/2556 | 167/851 | chr19 | TogoVar | |||
KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(3): Show | a0002c0003t0001g0300 a0002c0003t0001g0301 a0002c0003t0001g0302 others(32): Show |
35 | 336 | 0.1042 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | TogoVar | |||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(200): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show |
203 | 422 | 0.4810 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | |||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0006a0010 | a0002c0002a0002c0008a0006c0009others(1): Show | a0002c0002t0001a0002c0008t0001a0006c0009t0001others(1): Show | a0002c0002t0001g0000 a0002c0008t0001g0000 a0006c0009t0001g0000 others(1): Show |
121 | 460 | 0.2630 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | |||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0003a0004a0005 | a0003c0003a0003c0015a0003c0016others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0015t0001others(11): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 others(43): Show |
52 | 312 | 0.1667 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | |||
MAMDC4_chr9_136847346_136865799 | 136855611 | AGGCCTGT others(22): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18978.hp1 | a0028 | a0028c0027 | a0028c0027t0001 | a0028c0027t0001g0020 | 1 | 348 | 0.0029 | -29 | c.146 others(41): Show |
p.Ala others(5): Show |
MAMDC4 | ENSG00000177943.14 | transcript | ENST00000317446.7 | protein_coding | 12/27 | 1535/3681 | 1464/3414 | 488/1137 | chr9 | TogoVar | |||
MAPK8IP2_chr22_50595793_50618978 | 50605666 | C | CG | frameshift_variant | HIGH | NA18953.hp1 NA18966.hp2 NA18978.hp2 others(6): Show |
a0003 | a0003c0008a0003c0017a0003c0023 | a0003c0008t0001a0003c0008t0003a0003c0017t0004others(2): Show | a0003c0008t0001g0001 a0003c0008t0001g0004 a0003c0008t0001g0023 others(5): Show |
9 | 436 | 0.0206 | 1 | c.195 others(5): Show |
p.Glu others(5): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 7/12 | 1978/5700 | 1952/2475 | 651/824 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
MGAM2_chr7_142106718_142227324 | 142134141 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG03710.hp1 HG03927.hp2 others(5): Show |
a0007 | a0007c0033a0007c0034a0007c0080others(3): Show | a0007c0033t0001a0007c0034t0001a0007c0080t0001others(3): Show | a0007c0033t0001g0132 a0007c0033t0001g0155 a0007c0034t0001g0135 others(5): Show |
8 | 328 | 0.0244 | 1 | c.741 others(4): Show |
p.Thr others(5): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 7/48 | 832/7903 | 742/7548 | 248/2515 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MGAM_chr7_141990879_142111747 | 142065551 | AGAGCCTG others(29025): Show |
A | exon_loss_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(32): Show |
a0002a0008 | a0002c0004a0002c0008a0002c0016others(3): Show | a0002c0004t0001a0002c0008t0001a0002c0016t0001others(3): Show | a0002c0004t0001g0053 a0002c0004t0001g0120 a0002c0004t0001g0123 others(32): Show |
35 | 314 | 0.1115 | -29032 | c.464 others(9): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 40/71 | 4695/9172 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0001a0005a0008others(4): Show | a0001c0002a0005c0006a0005c0022others(5): Show | a0001c0002t0001a0005c0006t0001a0005c0022t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0032 others(27): Show |
103 | 438 | 0.2352 | -1 | c.953 others(4): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MPZL2_chr11_118248416_118269297 | 118262936 | G | A | stop_gained | HIGH | NA18978.hp2 NA18995.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0027 | 2 | 414 | 0.0048 | 0 | c.220 others(3): Show |
p.Gln others(3): Show |
MPZL2 | ENSG00000149573.9 | transcript | ENST00000278937.7 | protein_coding | 2/6 | 364/2622 | 220/648 | 74/215 | chr11 | TogoVar | |||
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(94): Show |
a0001a0002a0004others(8): Show | a0001c0005a0001c0063a0002c0004others(17): Show | a0001c0005t0002a0001c0063t0002a0002c0004t0002others(17): Show | a0001c0005t0002g0001 a0001c0005t0002g0002 a0001c0005t0002g0028 others(88): Show |
97 | 394 | 0.2462 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | TogoVar | |||
MRO_chr18_50790130_50825016 | 50799355 | G | C | stop_gained | HIGH | NA18962.hp1 NA18970.hp1 NA18978.hp1 others(1): Show |
a0005a0012 | a0005c0016a0012c0019 | a0005c0016t0006a0012c0019t0031 | a0005c0016t0006g0272 a0005c0016t0006g0295 a0005c0016t0006g0297 others(1): Show |
4 | 428 | 0.0093 | 0 | c.729 others(3): Show |
p.Tyr others(4): Show |
MRO | ENSG00000134042.14 | transcript | ENST00000398439.8 | protein_coding | 8/8 | 975/5200 | 729/747 | 243/248 | chr18 | TogoVar | |||
MRPL22_chr5_154936073_154974411 | 154957138 | C | T | stop_gained | HIGH | NA18978.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0009 | 1 | 356 | 0.0028 | 0 | c.265 others(3): Show |
p.Arg others(3): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/7 | 303/3173 | 265/621 | 89/206 | chr5 | TogoVar | |||
MYCT1_chr6_152692897_152729569 | 152697964 | GAGAT | G | frameshift_variant | HIGH | HG00558.hp2 HG00609.hp1 HG00673.hp1 others(48): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0003a0002c0002t0004a0002c0002t0009others(6): Show | a0002c0002t0003g0052 a0002c0002t0004g0003 a0002c0002t0004g0028 others(19): Show |
51 | 442 | 0.1154 | -4 | c.66_ others(9): Show |
p.Asp others(4): Show |
MYCT1 | ENSG00000120279.7 | transcript | ENST00000367245.6 | protein_coding | 1/2 | 72/3030 | 66/708 | 22/235 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MYO7A_chr11_77123246_77220241 | 77179796 | A | AC | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show |
a0005a0008a0020others(1): Show | a0005c0008a0005c0017a0005c0026others(35): Show | a0005c0008t0001a0005c0017t0001a0005c0026t0001others(35): Show | a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 others(51): Show |
54 | 354 | 0.1525 | 1 | c.243 others(5): Show |
p.Arg others(5): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 21/49 | 2722/7483 | 2432/6648 | 811/2215 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | |||
NFKBIL1_chr6_31542608_31563829 | 31558520 | GCCAGATT others(19): Show |
G | frameshift_variant | HIGH | NA18978.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0019 | 1 | 448 | 0.0022 | -26 | c.105 others(35): Show |
p.Ser others(5): Show |
NFKBIL1 | ENSG00000204498.11 | transcript | ENST00000376148.9 | protein_coding | 4/4 | 1143/1451 | 1056/1146 | 352/381 | chr6 | TogoVar | |||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0011others(15): Show | a0002c0002a0002c0041a0002c0065others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(36): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(140): Show |
145 | 426 | 0.3404 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0003a0005others(10): Show | a0002c0002a0002c0041a0003c0019others(13): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(18): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(71): Show |
74 | 414 | 0.1787 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0003a0011others(9): Show | a0002c0002a0002c0041a0003c0019others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(17): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(69): Show |
72 | 424 | 0.1698 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | chr16 | TogoVar |