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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEACAM21_chr19_41571166_41591844 | 41586462 | A | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(160): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0005others(9): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0003others(12): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0063others(39): Show | 163 | 393 | 0.4148 | 0 | c.*1- others(4): Show |
CEACAM21 | ENSG00000007129.18 | transcript | ENST00000401445.4 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022a0003c0003t0001g0027a0003c0003t0001g0086others(3): Show | 6 | 364 | 0.0165 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | TogoVar | ||
CLTCL1_chr22_19174473_19296719 | 19183486 | AAGCAGGT others(3): Show |
A | frameshift_variant | HIGH | HG01975.hp1 NA19068.hp1 |
a0012 | a0012c0014 | a0012c0014t0002a0012c0014t0012 | a0012c0014t0002g0242a0012c0014t0012g0338 | 2 | 346 | 0.0058 | -10 | c.472 others(19): Show |
p.Tyr others(6): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 30/33 | 4808/5518 | 4721/4923 | 1574/1640 | chr22 | TogoVar | ||
COL6A2_chr21_46093112_46134801 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(17): Show | a0001c0001t0001g0035a0001c0001t0001g0114a0001c0001t0001g0155others(80): Show | 100 | 372 | 0.2688 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL6A2_chr21_46093112_46137848 | 46125455 | A | AC | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(21): Show | a0001c0001t0001g0036a0001c0001t0001g0114a0001c0002t0001g0322others(80): Show | 97 | 364 | 0.2665 | 1 | c.181 others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COPB1_chr11_14452512_14504811 | 14498987 | T | C | splice_acceptor_variant others(1): Show |
HIGH | NA18964.hp2 NA18966.hp1 NA18989.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351a0001c0001t0001g0352a0001c0001t0001g0353others(5): Show | 8 | 386 | 0.0207 | 0 | c.-57 others(5): Show |
COPB1 | ENSG00000129083.13 | transcript | ENST00000439561.7 | protein_coding | 1/21 | chr11 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207542737 | CACATGTG others(18550): Show |
C | exon_loss_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0021a0001c0037others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(270): Show | 276 | 360 | 0.7667 | -18557 | c.223 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 14/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88467516 | G | A | stop_gained | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(240): Show |
a0001a0005a0007others(8): Show | a0001c0001a0001c0004a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(14): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0049others(237): Show | 243 | 386 | 0.6295 | 0 | c.215 others(4): Show |
p.Trp others(4): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 2/2 | 2617/2695 | 2159/2205 | 720/734 | chr3 | TogoVar | ||
CYP2C18_chr10_94678729_94741190 | 94687805 | T | A | stop_gained | HIGH | HG01884.hp1 HG02258.hp2 HG02630.hp2 others(21): Show |
a0003 | a0003c0003a0003c0007a0003c0010 | a0003c0003t0001a0003c0003t0006a0003c0007t0001others(1): Show | a0003c0003t0001g0048a0003c0003t0001g0236a0003c0003t0006g0014others(13): Show | 24 | 378 | 0.0635 | 0 | c.204 others(3): Show |
p.Tyr others(3): Show |
CYP2C18 | ENSG00000108242.13 | transcript | ENST00000285979.11 | protein_coding | 2/9 | 295/2310 | 204/1473 | 68/490 | chr10 | TogoVar | ||
CYP2C19_chr10_94757681_94860547 | 94780653 | G | A | stop_gained | HIGH | HG03490.hp1 HG03492.hp1 HG03831.hp2 others(14): Show |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0002a0003c0004t0006g0003a0003c0004t0006g0030others(10): Show | 17 | 364 | 0.0467 | 0 | c.636 others(3): Show |
p.Trp others(4): Show |
CYP2C19 | ENSG00000165841.11 | transcript | ENST00000371321.9 | protein_coding | 4/9 | 661/4131 | 636/1473 | 212/490 | chr10 | TogoVar | ||
CYP4B1_chr1_46794046_46824413 | 46815074 | GAT | G | frameshift_variant others(1): Show |
HIGH | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(66): Show |
a0003 | a0003c0003a0003c0018a0003c0019 | a0003c0003t0001a0003c0003t0003a0003c0018t0003others(1): Show | a0003c0003t0001g0009a0003c0003t0001g0035a0003c0003t0001g0103others(37): Show | 69 | 400 | 0.1725 | -2 | c.884 others(9): Show |
p.Asp others(5): Show |
CYP4B1 | ENSG00000142973.16 | transcript | ENST00000371923.9 | protein_coding | 8/12 | 920/2174 | 884/1539 | 295/512 | chr1 | TogoVar | ||
DCANP1_chr5_135439214_135452348 | 135446760 | T | A | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(265): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(28): Show | 268 | 456 | 0.5877 | 0 | c.349 others(3): Show |
p.Arg others(4): Show |
DCANP1 | ENSG00000251380.3 | transcript | ENST00000503143.3 | protein_coding | 1/1 | 589/3135 | 349/735 | 117/244 | chr5 | TogoVar | ||
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DIDO1_chr20_62872743_62931505 | 62926430 | ACCGCAGG | A | splice_donor_variant others(2): Show |
HIGH | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0009a0002c0002a0003c0003others(8): Show | a0001c0009t0001a0002c0002t0001a0003c0003t0001others(8): Show | a0001c0009t0001g0024a0002c0002t0001g0267a0003c0003t0001g0021others(55): Show | 66 | 320 | 0.2063 | -7 | c.-20 others(20): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 1/15 | chr20 | TogoVar | ||||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(8111): Show |
C | exon_loss_variant | HIGH | HG03540.hp1 NA18944.hp2 NA19056.hp1 others(2): Show |
a0014a0078a0090 | a0014c0023a0078c0068a0090c0046 | a0014c0023t0001a0014c0023t0003a0078c0068t0002others(1): Show | a0014c0023t0001g0107a0014c0023t0001g0108a0014c0023t0003g0135others(2): Show | 5 | 282 | 0.0177 | -8118 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
DTX2_chr7_76456709_76510991 | 76482880 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG01243.hp2 HG02055.hp1 others(7): Show |
a0005a0008 | a0005c0009a0005c0025a0005c0026others(3): Show | a0005c0009t0002a0005c0009t0008a0005c0025t0001others(4): Show | a0005c0009t0002g0101a0005c0009t0002g0162a0005c0009t0002g0164others(7): Show | 10 | 280 | 0.0357 | 1 | c.643 others(4): Show |
p.Arg others(5): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/11 | 1026/2641 | 644/1869 | 215/622 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DUSP15_chr20_31856077_31875527 | 31861504 | GCGGCACC others(10): Show |
G | frameshift_variant | HIGH | NA19068.hp2 | a0000 | a0000c0009 | a0000c0009t0001 | a0000c0009t0001g0132 | 1 | 378 | 0.0027 | -17 | c.590 others(24): Show |
p.Val others(5): Show |
DUSP15 | ENSG00000149599.16 | transcript | ENST00000339738.10 | protein_coding | 7/7 | 796/1224 | 590/708 | 197/235 | chr20 | TogoVar | ||
EFCAB8_chr20_32853923_32966845 | 32878768 | A | AC | frameshift_variant | HIGH | HG01123.hp2 HG01975.hp2 HG02027.hp1 others(11): Show |
a0005a0029 | a0005c0008a0005c0013a0005c0033others(5): Show | a0005c0008t0001a0005c0008t0002a0005c0008t0004others(9): Show | a0005c0008t0001g0002a0005c0008t0001g0063a0005c0008t0001g0214others(11): Show | 14 | 284 | 0.0493 | 1 | c.394 others(4): Show |
p.Arg others(5): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 5/27 | 489/4197 | 395/3867 | 132/1288 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
ELMO2_chr20_46361050_46411615 | 46375666 | A | G | splice_donor_variant others(1): Show |
HIGH | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 312 | 0.0032 | 0 | c.930 others(5): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 12/21 | chr20 | TogoVar | ||||||
EPB41L4A_chr5_112157619_112424277 | 112165119 | C | CTAAAA | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0021others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0086a0001c0001t0001g0100a0001c0001t0001g0103others(217): Show | 222 | 228 | 0.9737 | 5 | c.193 others(18): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
ERAP2_chr5_96871500_96924703 | 96912223 | TGCCTTCA others(9786): Show |
T | exon_loss_variant | HIGH | NA18983.hp2 NA19068.hp2 |
a0000 | a0000c0010 | a0000c0010t0014 | a0000c0010t0014g0026 | 2 | 398 | 0.0050 | -9793 | c.235 others(14): Show |
ERAP2 | ENSG00000164308.17 | transcript | ENST00000437043.8 | protein_coding | 16/19 | chr5 | TogoVar | ||||||
ESPNL_chr2_238095340_238138287 | 238100715 | T | A | splice_donor_variant others(1): Show |
HIGH | NA19068.hp2 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0041 | 1 | 408 | 0.0025 | 0 | c.294 others(5): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 1/8 | chr2 | TogoVar | ||||||
EXO5_chr1_40503767_40521038 | 40515335 | CTG | C | frameshift_variant | HIGH | HG00558.hp1 HG00597.hp1 HG00609.hp1 others(15): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0002a0004c0004t0002g0048a0004c0004t0002g0050 | 18 | 406 | 0.0443 | -2 | c.794 others(9): Show |
p.Val others(5): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | 1199/1899 | 794/1122 | 265/373 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0013others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(39): Show | 55 | 176 | 0.3125 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
FANCM_chr14_45130930_45205890 | 45159080 | TTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(40): Show |
a0003a0005a0011others(2): Show | a0003c0002a0005c0004a0011c0014others(2): Show | a0003c0002t0001a0005c0004t0001a0011c0014t0001others(2): Show | a0003c0002t0001g0002a0003c0002t0001g0174a0003c0002t0001g0175others(37): Show | 43 | 238 | 0.1807 | -2 | c.139 others(15): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FANCM_chr14_45130930_45205890 | 45185207 | TCTTA | T | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp1 others(111): Show |
a0002a0003a0004others(16): Show | a0002c0003a0002c0006a0002c0007others(22): Show | a0002c0003t0001a0002c0003t0002a0002c0006t0002others(24): Show | a0002c0003t0001g0167a0002c0003t0001g0169a0002c0003t0001g0170others(107): Show | 114 | 238 | 0.4790 | -4 | c.451 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
FGF22_chr19_634879_649373 | 643527 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(26): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0004others(3): Show | a0000c0002t0001g0001a0000c0002t0001g0004a0000c0002t0001g0035others(15): Show | 29 | 434 | 0.0668 | 1 | c.444 others(4): Show |
p.Pro others(5): Show |
FGF22 | ENSG00000070388.12 | transcript | ENST00000215530.7 | protein_coding | 3/3 | 492/1329 | 445/513 | 149/170 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
FTHL17_chrX_31066233_31077041 | 31071512 | C | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG02165.hp2 others(34): Show |
a0002a0004a0006 | a0002c0003a0002c0004a0004c0006others(1): Show | a0002c0003t0001a0002c0004t0001a0004c0006t0001others(1): Show | a0002c0003t0001g0000a0002c0004t0001g0000a0004c0006t0001g0000others(1): Show | 37 | 336 | 0.1101 | 0 | c.442 others(3): Show |
p.Glu others(4): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 1/1 | 530/809 | 442/552 | 148/183 | chrX | 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 | ||
GAK_chr4_844277_937316 | 898115 | CACAGCTT others(6): Show |
C | frameshift_variant | HIGH | NA19068.hp2 | a0023 | a0023c0049 | a0023c0049t0002 | a0023c0049t0002g0126 | 1 | 390 | 0.0026 | -13 | c.556 others(20): Show |
p.Thr others(5): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 6/28 | 697/4461 | 556/3936 | 186/1311 | chr4 | TogoVar | ||
GLOD5_chrX_48756747_48778648 | 48770946 | G | GT | frameshift_variant | HIGH | NA19068.hp1 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0152 | 1 | 269 | 0.0037 | 1 | c.225 others(4): Show |
p.Gly others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 3/4 | 270/740 | 226/483 | 76/160 | INFO_REALIGN_3_PRIME | chrX | 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(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): 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 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 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 | ||
GOLGA8S_chr15_23349748_23373341 | 23364403 | G | T | stop_gained | HIGH | HG00280.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
a0002a0013a0016others(17): Show | a0002c0002a0002c0086a0002c0087others(23): Show | a0002c0002t0001a0002c0002t0020a0002c0086t0001others(24): Show | a0002c0002t0001g0004a0002c0002t0001g0011a0002c0002t0001g0018others(61): Show | 78 | 430 | 0.1814 | 0 | c.144 others(4): Show |
p.Glu others(4): Show |
GOLGA8S | ENSG00000261739.3 | transcript | ENST00000562295.3 | protein_coding | 16/19 | 1509/5186 | 1447/1917 | 483/638 | chr15 | TogoVar | ||
GOSR2_chr17_46918160_46947020 | 46932182 | C | T | stop_gained | HIGH | NA19068.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003 | 1 | 412 | 0.0024 | 0 | c.319 others(3): Show |
p.Arg others(4): Show |
GOSR2 | ENSG00000108433.17 | transcript | ENST00000640051.2 | protein_coding | 4/6 | 352/3932 | 319/639 | 107/212 | chr17 | 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 | ||
GPR78_chr4_8575392_8595023 | 8582572 | A | AC | frameshift_variant | HIGH | HG00621.hp1 HG02080.hp2 HG04115.hp1 others(16): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002a0004c0004t0003others(8): Show | a0004c0004t0001g0009a0004c0004t0001g0175a0004c0004t0002g0001others(15): Show | 19 | 462 | 0.0411 | 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 | |
GRIFIN_chr7_2469728_2481398 | 2475830 | T | G | splice_acceptor_variant others(1): Show |
HIGH | NA18972.hp2 NA18983.hp2 NA19068.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0008 | 3 | 380 | 0.0079 | 0 | c.93- others(4): Show |
GRIFIN | ENSG00000275572.2 | transcript | ENST00000614228.2 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
GTPBP3_chr19_17332553_17347731 | 17341646 | A | AG | frameshift_variant | HIGH | HG00423.hp1 HG00558.hp2 HG01099.hp2 others(46): Show |
a0000 | a0000c0004a0000c0005a0000c0007others(1): Show | a0000c0004t0001a0000c0004t0002a0000c0004t0005others(7): Show | a0000c0004t0001g0006a0000c0004t0001g0007a0000c0004t0001g0019others(19): Show | 49 | 408 | 0.1201 | 1 | c.142 others(5): Show |
p.Thr others(5): Show |
GTPBP3 | ENSG00000130299.17 | transcript | ENST00000324894.13 | protein_coding | 9/9 | 1487/2566 | 1428/1479 | 476/492 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
H2BW2_chrX_104034956_104047454 | 104040193 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(109): Show |
a0002a0004 | a0002c0002a0002c0007a0004c0009 | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0013others(4): Show | 112 | 332 | 0.3374 | 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 |