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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FUT2_chr19_48690971_48710951 | 48703417 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(88): Show |
a0002 | a0002c0002a0002c0008a0002c0022 | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(13): Show | a0002c0002t0003g0004a0002c0002t0003g0008a0002c0002t0003g0017others(51): Show | 91 | 394 | 0.2310 | 0 | c.461 others(3): Show |
p.Trp others(4): Show |
FUT2 | ENSG00000176920.14 | transcript | ENST00000425340.3 | protein_coding | 2/2 | 582/3116 | 461/1032 | 154/343 | chr19 | TogoVar | ||
GAB4_chr22_16956936_17013222 | 16988159 | C | A | stop_gained | HIGH | HG00280.hp1 HG00544.hp2 HG00558.hp2 others(145): Show |
a0002a0005 | a0002c0002a0002c0008a0002c0013others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(9): Show | a0002c0002t0001g0002a0002c0002t0001g0005a0002c0002t0001g0007others(74): Show | 148 | 430 | 0.3442 | 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 | ||
GAGE12H_chrX_49574949_49592301 | 49581185 | C | CG | splice_donor_variant others(1): Show |
HIGH | HG03516.hp1 | a0008 | a0008c0010 | a0008c0010t0010 | a0008c0010t0010g0023 | 1 | 116 | 0.0086 | 1 | c.84+ others(5): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42628209 | TTTATATG others(2672): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG00280.hp2 HG00423.hp2 HG00621.hp2 others(87): Show |
a0001a0004a0008 | a0001c0001a0001c0008a0001c0012others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0002g0016a0001c0001t0002g0017a0001c0001t0002g0021others(87): Show | 90 | 210 | 0.4286 | -2679 | c.71- others(15): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GJB4_chr1_34754740_34767327 | 34761404 | CT | C | frameshift_variant | HIGH | HG01109.hp1 HG02258.hp1 HG02647.hp1 others(7): Show |
a0005 | a0005c0006a0005c0008a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0008t0001others(1): Show | a0005c0006t0001g0002a0005c0006t0004g0002a0005c0008t0001g0002others(1): Show | 10 | 462 | 0.0217 | -1 | c.153 others(4): Show |
p.Phe others(4): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 524/1444 | 153/801 | 51/266 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
GJB4_chr1_34754740_34767327 | 34761492 | C | T | stop_gained | HIGH | HG01109.hp1 HG02647.hp1 HG02886.hp2 others(5): Show |
a0005 | a0005c0006a0005c0009 | a0005c0006t0001a0005c0006t0004a0005c0009t0001 | a0005c0006t0001g0002a0005c0006t0004g0002a0005c0009t0001g0002 | 8 | 462 | 0.0173 | 0 | c.238 others(3): Show |
p.Gln others(3): Show |
GJB4 | ENSG00000189433.7 | transcript | ENST00000339480.3 | protein_coding | 2/2 | 609/1444 | 238/801 | 80/266 | chr1 | 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 | a0002c0003t0001g0009a0002c0003t0001g0014a0002c0003t0001g0019others(58): Show | 87 | 436 | 0.1995 | -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 | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(406): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02717.hp2 HG02809.hp1 others(5): Show |
a0002 | a0002c0008 | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(1): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(1): Show | 8 | 396 | 0.0202 | 413 | c.239 others(422): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440317 | A | ATCCCGCA others(226): Show |
frameshift_variant | HIGH | HG02258.hp2 HG02615.hp1 HG02717.hp2 others(14): Show |
a0002a0009a0027 | a0002c0008a0002c0011a0002c0041others(2): Show | a0002c0008t0007a0002c0008t0013a0002c0008t0021others(5): Show | a0002c0008t0007g0016a0002c0008t0013g0043a0002c0008t0021g0127others(7): Show | 17 | 396 | 0.0429 | 233 | c.215 others(242): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2219/3499 | 2157/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GPR135_chr14_59455759_59470380 | 59464198 | G | GCA | frameshift_variant | HIGH | HG01257.hp1 HG01258.hp1 HG01433.hp1 others(13): Show |
a0003a0010 | a0003c0004a0010c0016 | a0003c0004t0001a0010c0016t0001 | a0003c0004t0001g0000a0010c0016t0001g0000 | 16 | 368 | 0.0435 | 2 | c.102 others(11): Show |
p.Trp others(5): Show |
GPR135 | ENSG00000181619.12 | transcript | ENST00000395116.2 | protein_coding | 1/1 | 1182/4622 | 1028/1485 | 343/494 | chr14 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 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 | ||
GPRC6A_chr6_116787085_116834083 | 116792598 | A | AGGT | stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00741.hp2 HG01074.hp2 others(57): Show |
a0003a0005a0015others(1): Show | a0003c0003a0005c0005a0005c0015others(3): Show | a0003c0003t0001a0005c0005t0001a0005c0015t0001others(3): Show | a0003c0003t0001g0006a0003c0003t0001g0008a0003c0003t0001g0011others(35): Show | 60 | 368 | 0.1630 | 3 | c.232 others(12): Show |
p.Tyr others(15): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 6/6 | 2394/2908 | 2324/2781 | 775/926 | chr6 | TogoVar | ||
GPRC6A_chr6_116787085_116834083 | 116828845 | G | A | stop_gained | HIGH | HG00099.hp1 HG01106.hp1 HG01109.hp1 others(22): Show |
a0005 | a0005c0005a0005c0015a0005c0028 | a0005c0005t0001a0005c0015t0001a0005c0028t0001 | a0005c0005t0001g0004a0005c0005t0001g0050a0005c0005t0001g0051others(13): Show | 25 | 368 | 0.0679 | 0 | c.169 others(3): Show |
p.Arg others(3): Show |
GPRC6A | ENSG00000173612.10 | transcript | ENST00000310357.8 | protein_coding | 1/6 | 239/2908 | 169/2781 | 57/926 | chr6 | TogoVar | ||
GSTM3_chr1_109728937_109746038 | 109740512 | C | G | splice_acceptor_variant others(1): Show |
HIGH | HG02647.hp2 HG02809.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0020a0001c0001t0029others(1): Show | a0001c0001t0014g0040a0001c0001t0020g0018a0001c0001t0029g0039others(1): Show | 6 | 400 | 0.0150 | 0 | c.-22 others(6): Show |
GSTM3 | ENSG00000134202.12 | transcript | ENST00000361066.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | TogoVar | ||||||
HAP1_chr17_41717640_41739643 | 41724714 | G | T | stop_gained | HIGH | HG01243.hp2 HG01884.hp1 HG02083.hp2 others(18): Show |
a0006a0014a0020others(3): Show | a0006c0006a0014c0015a0020c0027others(3): Show | a0006c0006t0004a0006c0006t0012a0006c0006t0016others(5): Show | a0006c0006t0004g0007a0006c0006t0004g0104a0006c0006t0004g0105others(16): Show | 21 | 374 | 0.0562 | 0 | c.184 others(4): Show |
p.Ser others(4): Show |
HAP1 | ENSG00000173805.16 | transcript | ENST00000347901.9 | protein_coding | 11/11 | 1856/3930 | 1847/1860 | 616/619 | chr17 | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153955119 | C | CG | frameshift_variant | HIGH | HG03516.hp1 | a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0121 | 1 | 268 | 0.0037 | 1 | c.327 others(5): Show |
p.Ala others(6): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 17/26 | 4257/8876 | 3279/6108 | 1093/2035 | chrX | TogoVar | ||
HCFC1_chrX_153942557_153976818 | 153962270 | A | AC | frameshift_variant | HIGH | HG02027.hp1 HG02071.hp1 HG02572.hp1 others(5): Show |
a0003 | a0003c0007a0003c0011a0003c0014 | a0003c0007t0001a0003c0011t0002a0003c0011t0008others(1): Show | a0003c0007t0001g0016a0003c0007t0001g0043a0003c0007t0001g0048others(4): Show | 8 | 268 | 0.0299 | 1 | c.748 others(4): Show |
p.Val others(5): Show |
HCFC1 | ENSG00000172534.14 | transcript | ENST00000310441.12 | protein_coding | 5/26 | 1726/8876 | 748/6108 | 250/2035 | chrX | TogoVar | ||
HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0008 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155a0002c0004t0003g0008a0002c0004t0003g0015others(19): Show | 22 | 270 | 0.0815 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | ||
HID1_chr17_74945742_74977759 | 74963082 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG02055.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0001a0001c0006t0001a0001c0019t0002 | a0001c0001t0001g0187a0001c0006t0001g0020a0001c0006t0001g0021others(3): Show | 11 | 364 | 0.0302 | 0 | c.388 others(5): Show |
HID1 | ENSG00000167861.16 | transcript | ENST00000425042.7 | protein_coding | 3/18 | chr17 | TogoVar | ||||||
HLA-A_chr6_29937532_29950870 | 29943450 | G | T | stop_gained | HIGH | HG01884.hp2 HG02055.hp1 HG02280.hp2 others(10): Show |
a0012 | a0012c0011 | a0012c0011t0006 | a0012c0011t0006g0009a0012c0011t0006g0024 | 13 | 418 | 0.0311 | 0 | c.526 others(3): Show |
p.Glu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 548/1535 | 526/1098 | 176/365 | chr6 | TogoVar | ||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HLA-G_chr6_29822825_29836021 | 29828657 | AC | A | frameshift_variant | HIGH | HG01884.hp2 HG02055.hp1 HG02280.hp1 others(9): Show |
a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0002 | 12 | 479 | 0.0251 | -1 | c.460 others(4): Show |
p.Leu others(5): Show |
HLA-G | ENSG00000204632.13 | transcript | ENST00000360323.11 | protein_coding | 3/7 | 480/1319 | 460/1017 | 154/338 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
HP_chr16_72049505_72066055 | 72057480 | ACTGAGCA others(1708): Show |
A | exon_loss_variant | HIGH | HG00733.hp2 HG00738.hp2 HG01074.hp1 others(55): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003a0003c0003t0008 | a0003c0003t0002g0004a0003c0003t0002g0035a0003c0003t0002g0040others(6): Show | 58 | 425 | 0.1365 | -1715 | c.265 others(15): Show |
HP | ENSG00000257017.10 | transcript | ENST00000355906.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
HTR3A_chr11_113970108_113995313 | 113977782 | C | T | stop_gained | HIGH | HG03516.hp1 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0010 | 1 | 428 | 0.0023 | 0 | c.79C others(2): Show |
p.Arg others(3): Show |
HTR3A | ENSG00000166736.12 | transcript | ENST00000504030.7 | protein_coding | 2/9 | 297/2205 | 79/1437 | 27/478 | chr11 | TogoVar | ||
IDO2_chr8_39929651_40021392 | 40015416 | T | A | stop_gained | HIGH | HG00280.hp1 HG00558.hp2 HG00597.hp1 others(103): Show |
a0003a0004a0005 | a0003c0003a0004c0004a0005c0005 | a0003c0003t0002a0003c0003t0003a0003c0003t0010others(14): Show | a0003c0003t0002g0014a0003c0003t0002g0015a0003c0003t0002g0021others(102): Show | 106 | 360 | 0.2944 | 0 | c.103 others(4): Show |
p.Tyr others(4): Show |
IDO2 | ENSG00000188676.15 | transcript | ENST00000502986.4 | protein_coding | 11/11 | 1623/2599 | 1038/1224 | 346/407 | chr8 | TogoVar | ||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
INHBB_chr2_120341136_120356803 | 120346311 | A | AC | frameshift_variant | HIGH | HG00741.hp1 HG01192.hp1 HG02486.hp1 others(8): Show |
a0003a0004 | a0003c0005a0003c0009a0003c0010others(1): Show | a0003c0005t0001a0003c0005t0007a0003c0009t0002others(2): Show | a0003c0005t0001g0001a0003c0005t0001g0007a0003c0005t0001g0020others(6): Show | 11 | 456 | 0.0241 | 1 | c.128 others(4): Show |
p.Pro others(4): Show |
INHBB | ENSG00000163083.6 | transcript | ENST00000295228.4 | protein_coding | 1/2 | 182/3206 | 129/1224 | 43/407 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
IPO7_chr11_9379652_9453127 | 9438045 | G | GTTTTTTT others(9): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0010 | 1 | 314 | 0.0032 | 16 | c.249 others(30): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7563115 | T | TC | frameshift_variant | HIGH | HG01884.hp2 HG02071.hp2 HG02145.hp1 others(24): Show |
a0000 | a0000c0011a0000c0013a0000c0014others(14): Show | a0000c0011t0007a0000c0011t0030a0000c0011t0031others(21): Show | a0000c0011t0007g0084a0000c0011t0007g0137a0000c0011t0030g0013others(24): Show | 27 | 342 | 0.0790 | 1 | c.279 others(5): Show |
p.Thr others(5): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 14/14 | 2870/6716 | 2796/2829 | 932/942 | chr10 | TogoVar | ||
ITPR2_chr12_26330352_26838194 | 26681871 | T | TACTC | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(90): Show | a0001c0001t0001g0021a0001c0001t0001g0040a0001c0001t0001g0045others(102): Show | 105 | 142 | 0.7394 | 4 | c.140 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | ||||||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | ||
KCNJ16_chr17_70070225_70140608 | 70100767 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00733.hp2 HG01099.hp2 HG01109.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0129a0001c0001t0001g0243others(46): Show | 50 | 330 | 0.1515 | 0 | c.-19 others(6): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
KCNMB3_chr3_179237771_179256114 | 179242978 | CT | C | frameshift_variant | HIGH | HG00735.hp2 HG00738.hp2 HG01069.hp1 others(31): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0002a0003c0003t0002g0016a0003c0003t0002g0024others(5): Show | 34 | 370 | 0.0919 | -1 | c.753 others(4): Show |
p.Val others(5): Show |
KCNMB3 | ENSG00000171121.17 | transcript | ENST00000392685.7 | protein_coding | 3/3 | 877/1085 | 753/828 | 251/275 | chr3 | TogoVar | ||
KCTD14_chr11_78010715_78028276 | 78023248 | A | T | start_lost | HIGH | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037a0002c0003t0001g0039a0002c0003t0001g0063others(9): Show | 26 | 468 | 0.0556 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/2 | 29/1673 | 2/768 | 1/255 | chr11 | TogoVar | ||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | 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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 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 | |
KLK6_chr19_50953631_50974591 | 50968592 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01070.hp1 HG02055.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0060others(7): Show | 10 | 316 | 0.0317 | 0 | c.-59 others(5): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 1/6 | chr19 | TogoVar | ||||||
KMT2C_chr7_152129925_152441003 | 152178011 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG02071.hp2 HG02523.hp2 others(6): Show |
a0001a0006 | a0001c0006a0006c0010 | a0001c0006t0002a0006c0010t0001 | a0001c0006t0002g0095a0001c0006t0002g0096a0001c0006t0002g0097others(6): Show | 9 | 172 | 0.0523 | 1 | c.744 others(7): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 37/58 | chr7 | TogoVar | ||||||
KMT5B_chr11_68149863_68218296 | 68158421 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0051a0002c0002t0001g0075a0002c0002t0001g0088others(12): Show | 15 | 328 | 0.0457 | 1 | c.192 others(5): Show |
p.Val others(5): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 11/11 | 2159/5718 | 1924/2658 | 642/885 | chr11 | TogoVar | ||
KRT16_chr17_41604778_41617767 | 41612635 | G | T | stop_gained | HIGH | HG03516.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0015 | 1 | 398 | 0.0025 | 0 | c.54C others(2): Show |
p.Cys others(3): Show |
KRT16 | ENSG00000186832.9 | transcript | ENST00000301653.9 | protein_coding | 1/8 | 133/1658 | 54/1422 | 18/473 | chr17 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -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 |