NM_002253.4(KDR):c.3848+15T>C
|
rs2412617
|
0.99680
|
NM_133171.5(ELMO2):c.1980T>C (p.Asp660=)
|
rs2257495
|
0.98384
|
NM_005401.5(PTPN14):c.-26G>A
|
rs10864100
|
0.83031
|
NM_005401.5(PTPN14):c.2688+26C>T
|
rs3013451
|
0.82386
|
NM_005401.5(PTPN14):c.978A>G (p.Arg326=)
|
rs7550799
|
0.82382
|
NM_005401.5(PTPN14):c.3252A>G (p.Glu1084=)
|
rs1135352
|
0.81332
|
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
|
rs1042522
|
0.62654
|
NM_032208.3(ANTXR1):c.1185+16C>A
|
rs6749826
|
0.45542
|
NM_005401.5(PTPN14):c.758+5T>G
|
rs11580603
|
0.37880
|
NM_005401.5(PTPN14):c.*26G>A
|
rs2291831
|
0.15689
|
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg)
|
rs34231037
|
0.02299
|
NM_133171.5(ELMO2):c.963G>A (p.Arg321=)
|
rs41310805
|
0.01127
|
NM_000546.6(TP53):c.97-6C>T
|
rs35117667
|
0.00847
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_133171.5(ELMO2):c.1134G>A (p.Leu378=)
|
rs8124302
|
0.00264
|
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val)
|
rs139807657
|
0.00253
|
NM_002253.4(KDR):c.2312C>T (p.Thr771Met)
|
rs149745504
|
0.00198
|
NM_000546.6(TP53):c.139C>T (p.Pro47Ser)
|
rs1800371
|
0.00123
|
NM_033360.4(KRAS):c.5-18A>G
|
rs200189105
|
0.00100
|
NM_001146079.2(CLDN14):c.185A>G (p.Tyr62Cys)
|
rs148223897
|
0.00048
|
NM_000546.5(TP53):c.319T>C (p.Tyr107His)
|
rs368771578
|
0.00028
|
NM_004985.5(KRAS):c.24A>G (p.Val8=)
|
rs147406419
|
0.00025
|
NM_000546.6(TP53):c.672+18G>C
|
rs199578278
|
0.00014
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_033360.4(KRAS):c.90C>T (p.Asp30=)
|
rs113623140
|
0.00011
|
NM_000546.6(TP53):c.847C>T (p.Arg283Cys)
|
rs149633775
|
0.00009
|
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser)
|
rs577890523
|
0.00006
|
NM_033360.4(KRAS):c.4+5G>A
|
rs201789109
|
0.00006
|
NM_000546.6(TP53):c.460G>A (p.Gly154Ser)
|
rs137852789
|
0.00004
|
NM_001146079.2(CLDN14):c.427G>A (p.Val143Met)
|
rs776564488
|
0.00004
|
NM_001291303.3(FAT4):c.9273C>A (p.Phe3091Leu)
|
rs748266278
|
0.00004
|
NM_004985.5(KRAS):c.451-5652C>T
|
rs727505314
|
0.00004
|
NM_001374353.1(GLI2):c.2593A>T (p.Thr865Ser)
|
rs1332140763
|
0.00003
|
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser)
|
rs121917766
|
0.00003
|
NM_000546.6(TP53):c.-12C>T
|
rs375229869
|
0.00002
|
NM_000546.6(TP53):c.466C>T (p.Arg156Cys)
|
rs563378859
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln)
|
rs781410462
|
0.00002
|
NM_033360.4(KRAS):c.389C>T (p.Ala130Val)
|
rs730880473
|
0.00002
|
NM_133171.5(ELMO2):c.1416+9C>G
|
rs770529533
|
0.00002
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg)
|
rs730882028
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
0.00001
|
NM_000546.6(TP53):c.461G>A (p.Gly154Asp)
|
rs762846821
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.760A>G (p.Ile254Val)
|
rs746601313
|
0.00001
|
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys)
|
rs1430793034
|
0.00001
|
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile)
|
rs775083333
|
0.00001
|
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)
|
rs121913529
|
0.00001
|
NM_007217.4(PDCD10):c.474+5G>A
|
rs1553759139
|
0.00001
|
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr)
|
rs778089198
|
0.00001
|
NM_032208.3(ANTXR1):c.976G>A (p.Ala326Thr)
|
rs119475040
|
0.00001
|
NM_033360.4(KRAS):c.112-5C>T
|
rs376520586
|
0.00001
|
NM_133171.5(ELMO2):c.1065+1G>A
|
rs768410753
|
0.00001
|
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter)
|
rs1372506599
|
0.00001
|
46;XX;ins(3;1)(q23;p22p32)dn
|
|
|
46;XX;t(4;14)(p15.2;q13)dn
|
|
|
46;XX;t(6;17)(q13;q21)dn
|
|
|
46;XY;inv(6)(p22q13)dn
|
|
|
46;XY;t(1;4)(q32;q11)
|
|
|
46;XY;t(7;13)(p15.3;q14.1)dn
|
|
|
GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1
|
|
|
GRCh37/hg19 8q23.3(chr8:114378494-114450308)
|
|
|
NM_000268.4(NF2):c.575A>G (p.Tyr192Cys)
|
rs1555993319
|
|
NM_000271.5(NPC1):c.1315A>G (p.Ile439Val)
|
rs933640981
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro)
|
rs1555985260
|
|
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter)
|
rs118203682
|
|
NM_000420.3(KEL):c.604G>A (p.Gly202Ser)
|
rs2116680039
|
|
NM_000420.3(KEL):c.961C>T (p.Gln321Ter)
|
rs980885552
|
|
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs)
|
rs2131267739
|
|
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter)
|
rs730882029
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.389T>C (p.Leu130Pro)
|
rs1131691013
|
|
NM_000546.6(TP53):c.475_481dup (p.Ala161fs)
|
rs863223301
|
|
NM_000546.6(TP53):c.559+1G>A
|
rs1131691042
|
|
NM_000546.6(TP53):c.677G>C (p.Gly226Ala)
|
rs970212462
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.72dup (p.Leu25fs)
|
rs2151047224
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.817C>G (p.Arg273Gly)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.854A>T (p.Glu285Val)
|
rs121912667
|
|
NM_000546.6(TP53):c.96+1G>T
|
rs1131691003
|
|
NM_000551.4(VHL):c.194C>T (p.Ser65Leu)
|
rs5030826
|
|
NM_000551.4(VHL):c.530_536del (p.Arg177fs)
|
rs1575932266
|
|
NM_000969.5(RPL5):c.74-1G>C
|
rs1553284997
|
|
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr)
|
rs1555459345
|
|
NM_001114753.3(ENG):c.920dup (p.Asn307fs)
|
rs1554810174
|
|
NM_001146079.2(CLDN14):c.116_118del (p.Asn39del)
|
|
|
NM_001146079.2(CLDN14):c.337G>C (p.Ala113Pro)
|
rs138631461
|
|
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met)
|
rs2103083622
|
|
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
|
|
|
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr)
|
rs1554047435
|
|
NM_001291303.3(FAT4):c.13985C>G (p.Ala4662Gly)
|
rs1727604042
|
|
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr)
|
rs1555238867
|
|
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001455.4(FOXO3):c.583A>T (p.Lys195Ter)
|
rs1554209779
|
|
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser)
|
rs1555630396
|
|
NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)
|
rs1640240555
|
|
NM_002253.4(KDR):c.1136C>T (p.Ala379Val)
|
|
|
NM_002253.4(KDR):c.3006G>C (p.Leu1002Phe)
|
|
|
NM_002253.4(KDR):c.3663T>C (p.Ser1221=)
|
|
|
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met)
|
rs2143631386
|
|
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
|
|
|
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs)
|
rs2112474795
|
|
NM_002890.3(RASA1):c.475_476del (p.Leu159fs)
|
rs797044451
|
|
NM_003070.5(SMARCA2):c.2564G>T (p.Arg855Leu)
|
rs1471482709
|
|
NM_003482.4(KMT2D):c.15689G>A (p.Cys5230Tyr)
|
rs2137715091
|
|
NM_004297.4(GNA14):c.215C>T (p.Thr72Met)
|
|
|
NM_004297.4(GNA14):c.356T>C (p.Met119Thr)
|
|
|
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu)
|
rs1554685903
|
|
NM_004297.4(GNA14):c.817G>C (p.Asp273His)
|
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter)
|
rs1585998247
|
|
NM_004444.5(EPHB4):c.1295_1296del (p.Glu432fs)
|
rs2116449991
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser)
|
rs2116413948
|
|
NM_004557.4(NOTCH4):c.4855C>A (p.Leu1619Met)
|
rs755664291
|
|
NM_004985.5(KRAS):c.112-9C>T
|
rs727504298
|
|
NM_004985.5(KRAS):c.183A>T (p.Gln61His)
|
rs17851045
|
|
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup)
|
rs2141509708
|
|
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)
|
rs121913529
|
|
NM_004985.5(KRAS):c.388_389delinsAT (p.Ala130Ile)
|
rs1951383854
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005228.5(EGFR):c.1881-858G>T
|
rs909905659
|
|
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal)
|
rs1589792836
|
|
NM_005401.5(PTPN14):c.*6320C>T
|
|
|
NM_005401.5(PTPN14):c.-154-22749A>G
|
|
|
NM_005401.5(PTPN14):c.-154-42562G>A
|
|
|
NM_005401.5(PTPN14):c.1574C>T (p.Pro525Leu)
|
|
|
NM_005401.5(PTPN14):c.2164C>T (p.Pro722Ser)
|
|
|
NM_005401.5(PTPN14):c.2596A>G (p.Met866Val)
|
|
|
NM_005401.5(PTPN14):c.3500T>C (p.Ile1167Thr)
|
|
|
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs)
|
rs1558092113
|
|
NM_005401.5(PTPN14):c.581+60_669+877del
|
|
|
NM_005401.5(PTPN14):c.679G>T (p.Gly227Ter)
|
|
|
NM_005401.5(PTPN14):c.715A>T (p.Ile239Phe)
|
|
|
NM_005401.5(PTPN14):c.929+24del
|
rs11322819
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr)
|
rs1553178399
|
|
NM_006766.5(KAT6A):c.1433C>T (p.Thr478Ile)
|
rs1554688023
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_014319.5(LEMD3):c.1522+11509_1522+11513del
|
|
|
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser)
|
rs1555196298
|
|
NM_021098.3(CACNA1H):c.6884C>T (p.Ser2295Phe)
|
rs772718469
|
|
NM_022455.5(NSD1):c.7147G>T (p.Gly2383Cys)
|
rs1554207664
|
|
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)
|
rs565935886
|
|
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter)
|
rs1555556099
|
|
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter)
|
rs765548101
|
|
NM_032119.4(ADGRV1):c.5188A>T (p.Ile1730Phe)
|
rs1554079046
|
|
NM_033360.4(KRAS):c.*101_*106del
|
rs1339924833
|
|
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter)
|
rs770780171
|
|
NM_133171.5(ELMO2):c.1065+1G>T
|
|
|
NM_133171.5(ELMO2):c.1279+19del
|
rs76979752
|
|
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter)
|
rs1568748859
|
|
NM_133171.5(ELMO2):c.1802-1G>C
|
rs886037918
|
|
NM_133171.5(ELMO2):c.2080del (p.Leu694fs)
|
rs886037919
|
|
NM_133171.5(ELMO2):c.311dup (p.Met104fs)
|
rs2145827538
|
|
NM_182925.5(FLT4):c.3179G>A (p.Arg1060Gln)
|
|
|
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter)
|
rs1554527169
|
|
NM_194454.3(KRIT1):c.990-1G>A
|
rs1554518790
|
|