{"text_format":"3","workbook":"xls","n_sheets":1,"sheets":["Table S2"],"read":"whole","date_system":"1900","formulas":"cached_only"}

{"sheet":"Table S2","index":0,"n_rows":99,"n_cols":11,"rows_kept":99,"flags":["formulas_cached_only"]}
["Table S2. Mutation and ultra-rare mutation detection by bSSL-rDSC-SeqS"]
["Gene Symbol","Gene Name","Transcript Accession","Nucleotide (genomic)","Amino Acid (protein)","Mutant Allele Fraction","Mutant Allele Fraction in 1 to 1000 spiked normal DNA sample","Mutation Type","Consequence","Sanger Sequencing Confirmed","Detected again by bSSL-rDSC-SeqS in 1:1,000 dilution"]
["FOCAD","focadhesin","CCDS34993","chr9:20865973 A->G","p.K2104E",{"v":0.29411764705882354,"d":"29.41%"},{"v":0.00029411764705882356,"d":"0.029%"},"Substitution","Non-synonymous coding","YES","YES"]
["KRAS","v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog","CCDS8703.1","chr12:25289551C->A","p.G12V",{"v":0.27692307692307694,"d":"27.69%"},{"v":0.00027692307692307695,"d":"0.028%"},"Substitution","Nonsynonymous coding","YES","YES"]
["TRIM59","tripartite motif containing 59","CCDS3190","chr3:160156368 ->T","NA",{"v":0.23076923076923078,"d":"23.08%"},{"v":0.0002307692307692308,"d":"0.023%"},"Insertion","Frameshift","YES","NO"]
["GOLGA6L2","golgin A6 family-like 2","ENST00000312015","chr15:23685010 C->T","p.E1633K",{"v":0.23076923076923078,"d":"23.08%"},{"v":0.0002307692307692308,"d":"0.023%"},"Substitution","Non-synonymous coding","YES","YES"]
["CAMKK2","calcium/calmodulin dependent protein kinase kinase 2","CCDS53837","chr12:121678328 ->T","NA",{"v":0.22580645161290322,"d":"22.58%"},{"v":0.00022580645161290321,"d":"0.023%"},"Insertion","Frameshift","YES","NO"]
["TTC39A","tetratricopeptide repeat domain 39A","ENST00000262676","chr1:51767913 C->","NA",{"v":0.21739130434782608,"d":"21.74%"},{"v":0.00021739130434782607,"d":"0.022%"},"Deletion","Frameshift","YES","NO"]
["VEGFC","vascular endothelial growth factor C","CCDS43285","chr4:177605084 A->C","p.M1256R",{"v":0.21428571428571427,"d":"21.43%"},{"v":0.00021428571428571427,"d":"0.021%"},"Substitution","Non-synonymous coding","YES","NO"]
["NBPF15","neuroblastoma breakpoint family member 15","CCDS932","chr1:148594474 C->T","p.S1847L",{"v":0.19540229885057472,"d":"19.54%"},{"v":0.00019540229885057472,"d":"0.020%"},"Substitution","Non-synonymous coding","YES","YES"]
["ALG9","ALG9, alpha-1,2-mannosyltransferase","ENST00000428306","chr11:111742145 C->G","NA",{"v":0.16964285714285715,"d":"16.96%"},{"v":0.00016964285714285714,"d":"0.017%"},"NA","Splice site donor","YES","YES"]
["OAS1","2'-5'-Oligoadenylate Synthetase 1","ENST00000377508","chr12:113369718 C->A","NA",{"v":0.1694915254237288,"d":"16.95%"},{"v":0.0001694915254237288,"d":"0.017%"},"NA","Splice site acceptor","YES","NO"]
["NFE2L2","nuclear factor, erythroid 2 like 2","CCDS42782","chr2:178097188 C->T","p.D526N",{"v":0.16455696202531644,"d":"16.46%"},{"v":0.00016455696202531645,"d":"0.016%"},"Substitution","Non-synonymous coding","YES","YES"]
["OAS1","2'-5'-Oligoadenylate Synthetase 1","ENST00000377508","chr12:113369716 A->C","NA",{"v":0.15873015873015872,"d":"15.87%"},{"v":0.00015873015873015873,"d":"0.016%"},"NA","Splice site acceptor","YES","NO"]
["E2F8","E2F transcription factor 8","ENST00000396159","chr11:19263371 T->","NA",{"v":0.15625,"d":"15.63%"},{"v":0.00015625,"d":"0.016%"},"NA","Splice site donor","YES","NO"]
["FUZ","fuzzy planar cell polarity protein","ENST00000421740","chr19:50314458 G->A","p.S650F",{"v":0.15151515151515152,"d":"15.15%"},{"v":0.00015151515151515152,"d":"0.015%"},"Substitution","Non-synonymous coding","YES","NO"]
["FUZ","fuzzy planar cell polarity protein","ENST00000421740","chr19:50314459 A->G","p.S649P",{"v":0.1506849315068493,"d":"15.07%"},{"v":0.0001506849315068493,"d":"0.015%"},"Substitution","Non-synonymous coding","YES","NO"]
["ADAM21","ADAM metallopeptidase domain 21","CCDS9804","chr14:70924632 G->A","p.S416N",{"v":0.14666666666666667,"d":"14.67%"},{"v":0.00014666666666666666,"d":"0.015%"},"Substitution","Non-synonymous coding","YES","YES"]
["COL27A1","collagen type XXVII alpha 1 chain","CCDS6802","chr9:116918267 GCG->","NA",{"v":0.14035087719298245,"d":"14.04%"},{"v":0.00014035087719298245,"d":"0.014%"},"Deletion","Frameshift","YES","NO"]
["USP19","ubiquitin specific peptidase 19","CCDS43090","chr3:49155556 A->","NA",{"v":0.14035087719298245,"d":"14.04%"},{"v":0.00014035087719298245,"d":"0.014%"},"NA","Splice site acceptor","YES","NO"]
["FAM182A","family with sequence similarity 182 member A","ENST00000246000","chr20:26061967 G->T","p.A319S",{"v":0.13716814159292035,"d":"13.72%"},{"v":0.00013716814159292034,"d":"0.014%"},"Substitution","Non-synonymous coding","YES","YES"]
["VLDLR","very low density lipoprotein receptor","ENST00000397921","chr9:2622173 C->G","p.T155S",{"v":0.12280701754385964,"d":"12.28%"},{"v":0.00012280701754385965,"d":"0.012%"},"Substitution","Non-synonymous coding","YES","NO"]
["MMEL1","membrane metalloendopeptidase like 1","CCDS30569","chr1:2560819 CAG->","NA",{"v":0.11940298507462686,"d":"11.94%"},{"v":0.00011940298507462687,"d":"0.012%"},"Deletion","Frameshift","YES","NO"]
[" LSM12","LSM12 homolog","ENST00000411445","chr17:42141311 ->A","NA",{"v":0.11320754716981132,"d":"11.32%"},{"v":0.00011320754716981132,"d":"0.011%"},"Insertion","Frameshift","YES","YES"]
["MFSD4B","major facilitator superfamily domain containing 4B","CCDS5090","chr6:111587361 T->","NA",{"v":0.109375,"d":"10.94%"},{"v":0.000109375,"d":"0.011%"},"Deletion","Frameshift","YES","YES"]
["NADK","NAD kinase","CCDS30565","chr1:1684348 ->CCT","NA",{"v":0.10852713178294573,"d":"10.85%"},{"v":0.00010852713178294573,"d":"0.011%"},"Insertion","Frameshift","YES","YES"]
["PTPRG","protein tyrosine phosphatase, receptor type G","CCDS2895","chr3:62267290 A->G","p.E3818G",{"v":0.10714285714285714,"d":"10.71%"},{"v":0.00010714285714285714,"d":"0.011%"},"Substitution","Non-synonymous coding","YES","NO"]
["CTNNB1","catenin (cadherin-associated protein); beta 1; 88kDa","CCDS2694.1","chr3:41241445C->A","NA",{"v":0.10526315789473684,"d":"10.53%"},{"v":0.00010526315789473683,"d":"0.011%"},"NA","Splice site acceptor","YES","YES"]
["ZMYND8","zinc finger MYND-type containing 8","ENST00000372023","chr20:45867410 A->","NA",{"v":0.10091743119266056,"d":"10.09%"},{"v":0.00010091743119266055,"d":"0.010%"},"Deletion","Frameshift","YES","NO"]
["TP53","tumor protein p53","CCDS11118.1","chr17:7520075A->C","p.F113V",{"v":0.09388319285861875,"d":"9.39%"},{"v":9.388319285861875e-05,"d":"0.009%"},"Substitution","Nonsynonymous coding","YES","YES"]
["DCD","Dermcidin","ENST00000419084","chr12:55039821 G->A","p.P211S",{"v":0.08459855401967327,"d":"8.46%"},{"v":8.459855401967327e-05,"d":"0.008%"},"Substitution","Non-synonymous coding","YES","NO"]
["KCNB2","potassium voltage-gated channel subfamily B member 2","CCDS6209","chr8:73480397 ->A","NA",{"v":0.08344229480266434,"d":"8.34%"},{"v":8.344229480266434e-05,"d":"0.008%"},"Insertion","Frameshift","YES","YES"]
["ALG9","ALG9, alpha-1,2-mannosyltransferase","ENST00000428306","chr11:111742141 G->C","p.P761R",{"v":0.07980362659774298,"d":"7.98%"},{"v":7.980362659774298e-05,"d":"0.008%"},"Substitution","Non-synonymous coding","YES","NO"]
["PRRT2","proline rich transmembrane protein 2","CCDS10654","chr16:29825016 C->","NA",{"v":0.0780031490230884,"d":"7.80%"},{"v":7.80031490230884e-05,"d":"0.008%"},"Deletion","Frameshift","NO","YES"]
["PYGM","glycogen phosphorylase, muscle associated","CCDS8079","chr11:64526120 C->A","p.M300I",{"v":0.07553979092575745,"d":"7.55%"},{"v":7.553979092575745e-05,"d":"0.008%"},"Substitution","Non-synonymous coding","YES","YES"]
["TP53","tumor protein p53","CCDS11118.1","chr17:7518898A->G","NA",{"v":0.06969453352415565,"d":"6.97%"},{"v":6.969453352415565e-05,"d":"0.007%"},"NA","Splice site donor","YES","YES"]
["MYO9B","myosin IXB","CCDS46010","chr19:17294680 ->A","NA",{"v":0.0655705683782826,"d":"6.56%"},{"v":6.55705683782826e-05,"d":"0.007%"},"Substitution","Splice site donor","YES","YES"]
["TUBBP5","tubulin beta pseudogene 5","ENST00000290377","chr9:141070139 C->T","p.L37F",{"v":0.06488215901534118,"d":"6.49%"},{"v":6.488215901534118e-05,"d":"0.006%"},"Substitution","Non-synonymous coding","YES","NO"]
["FOXC1","forkhead box C1","CCDS4473","chr6:1612018 CGG->","NA",{"v":0.05962260276007187,"d":"5.96%"},{"v":5.962260276007187e-05,"d":"0.006%"},"Deletion","Frameshift","NO","NO"]
["GALNT9","polypeptide N-acetylgalactosaminyltransferase 9","ENST00000424720","chr12:132824394 C->A","p.M1146I",{"v":0.05440446264668343,"d":"5.44%"},{"v":5.440446264668343e-05,"d":"0.005%"},"Substitution","Non-synonymous coding","YES","YES"]
["RP11-830F9.6","uncharacterized LOC100129697","ENST00000378347","chr16:89017605 A->G","p.D1079G",{"v":0.052868720062306265,"d":"5.29%"},{"v":5.2868720062306265e-05,"d":"0.005%"},"Substitution","Non-synonymous coding","YES","YES"]
["SRD5A2 ","steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)","ENST00000233139","chr2:31805883 C->G","p.K87N",{"v":0.05058611606067918,"d":"5.06%"},{"v":5.0586116060679174e-05,"d":"0.005%"},"Substitution","Non-synonymous coding","YES","YES"]
["SMG7","SMG7, nonsense mediated mRNA decay factor","CCDS1355","chr1:183515267 ->A","NA",{"v":0.0497815314176792,"d":"4.98%"},{"v":4.97815314176792e-05,"d":"0.005%"},"Insertion","Frameshift","N/A","N/A"]
["LZTS3","Leucine Zipper Tumor Suppressor Family Member 3","CCDS13049","chr20:3146451 G->A","p.R1015W",{"v":0.04859396914642578,"d":"4.86%"},{"v":4.8593969146425784e-05,"d":"0.005%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["TNFSF9","tumor necrosis factor superfamily member 9","CCDS12169","chr19:6531149 GCT->","NA",{"v":0.04737819654439727,"d":"4.74%"},{"v":4.7378196544397266e-05,"d":"0.005%"},"Deletion","Frameshift","N/A","N/A"]
["NOP9","NOP9 nucleolar protein","CCDS9624","chr14:24769850 ->GAG","NA",{"v":0.046307994945441744,"d":"4.63%"},{"v":4.6307994945441745e-05,"d":"0.005%"},"Insertion","Frameshift","N/A","N/A"]
["ABCA2","ATP binding cassette subfamily A member 2","CCDS43909","chr9:139917492 G->A","p.A176V",{"v":0.042844466617790025,"d":"4.28%"},{"v":4.2844466617790026e-05,"d":"0.004%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["SHC1","SHC adaptor protein 1","CCDS44233","chr1:154938890 ->C","NA",{"v":0.04142660080602093,"d":"4.14%"},{"v":4.1426600806020934e-05,"d":"0.004%"},"Insertion","Frameshift","N/A","N/A"]
["RNF43","ring finger protein 43","CCDS11607.1","chr17:53792509C->A","p.E318X",{"v":0.0398560338853319,"d":"3.99%"},{"v":3.98560338853319e-05,"d":"0.004%"},"Substitution","Nonsense ","N/A","N/A"]
["RNF43","ring finger protein 43","CCDS11607.1","chr17:53790631C->A","p.S502I",{"v":0.03656946743668508,"d":"3.66%"},{"v":3.656946743668508e-05,"d":"0.004%"},"Substitution","Nonsynonymous coding","N/A","N/A"]
["SMAD4","SMAD family member 4","CCDS11950.1","chr18:46835279C->A","p.Y195X",{"v":0.034544518681173766,"d":"3.45%"},{"v":3.454451868117377e-05,"d":"0.003%"},"Substitution","Nonsense ","N/A","N/A"]
["IGSF3","immunoglobulin superfamily member 3","CCDS30814","chr1:117158745 A->C","p.D378E",{"v":0.03416016868006141,"d":"3.42%"},{"v":3.4160168680061406e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["FOLR3","folate receptor 3","ENST00000456237","chr11:71850159 A->T","p.E449V",{"v":0.0327135035270622,"d":"3.27%"},{"v":3.27135035270622e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["CTRC","chymotrypsin C","CCDS156","chr1:15771154 C->T","p.H547Y",{"v":0.031962906751736415,"d":"3.20%"},{"v":3.1962906751736416e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["NRAP","nebulin related anchoring protein","CCDS7579","chr10:115348730 T->G","NA",{"v":0.030755248890254286,"d":"3.08%"},{"v":3.0755248890254285e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["RNF43","ring finger protein 43","CCDS11607.1","chr17:53790810G->T","p.D442E",{"v":0.030730796987037696,"d":"3.07%"},{"v":3.07307969870377e-05,"d":"0.003%"},"Substitution","Nonsynonymous coding","N/A","N/A"]
["SH3BP5","SH3 domain binding protein 5","CCDS2625.2","chr3:15373833 TCC->","NA",{"v":0.030428862805854974,"d":"3.04%"},{"v":3.0428862805854975e-05,"d":"0.003%"},"Deletion","Frameshift","N/A","N/A"]
["WIZ","widely interspaced zinc finger motifs","ENST00000389282","chr19:15549933 C->A","p.E1728D",{"v":0.02958146153583801,"d":"2.96%"},{"v":2.958146153583801e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["HDC","histidine decarboxylase","CCDS10134","chr15:50557790 C->A","p.G31W",{"v":0.02847148886063904,"d":"2.85%"},{"v":2.8471488860639038e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["UBQLNL","ubiquilin-like","CCDS31385","chr11:5536683 C->T","p.R989Q",{"v":0.028167253183756957,"d":"2.82%"},{"v":2.8167253183756956e-05,"d":"0.003%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["CDKN2A","cyclin-dependent kinase inhibitor 2A (melanoma; p16; inhibits CDK4)","CCDS6511.1","chr9:21961019C->T","p.A169T",{"v":0.026909826458174635,"d":"2.69%"},{"v":2.6909826458174635e-05,"d":"0.003%"},"Substitution","Nonsynonymous coding","N/A","N/A"]
["AHDC1","AT-hook DNA binding motif containing 1","CCDS30652","chr1:27877505 G->","NA",{"v":0.024025990775232563,"d":"2.40%"},{"v":2.4025990775232562e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["PTPRS","protein tyrosine phosphatase, receptor type S","CCDS45930","chr19:5208036 G->A","p.T5675M",{"v":0.02343709666032515,"d":"2.34%"},{"v":2.343709666032515e-05,"d":"0.002%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["TMEM63A","transmembrane protein 63A","CCDS31042.1","chr1:226034840 CTG->","NA",{"v":0.021313196956609083,"d":"2.13%"},{"v":2.1313196956609083e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["NOTCH4","notch 4","CCDS34420.1","chr6:32163554 ->C","NA",{"v":0.020175692741124206,"d":"2.02%"},{"v":2.0175692741124205e-05,"d":"0.002%"},"Insertion","Frameshift","N/A","N/A"]
["AZGP1","alpha-2-glycoprotein 1, zinc-binding","CCDS5680.1","chr7:99573573 T->C","p.Q71R",{"v":0.01944460289566627,"d":"1.94%"},{"v":1.9444602895666268e-05,"d":"0.002%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["TBC1D29","TBC1 domain family member 29","CCDS32606.1","chr17:28890361 G->A","p.R371Q",{"v":0.018765837177504425,"d":"1.88%"},{"v":1.8765837177504425e-05,"d":"0.002%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["GIGYF2","GRB10 interacting GYF protein 2","CCDS46542.1","chr2:233697764 GCA->","NA",{"v":0.01835591415004826,"d":"1.84%"},{"v":1.835591415004826e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["KIF7","kinesin family member 7","CCDS32325.2","chr15:90171904 G->","NA",{"v":0.018051520816200713,"d":"1.81%"},{"v":1.8051520816200714e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["TP53I13","tumor protein p53 inducible protein 13","CCDS42289.1","chr17:27899242 C->T","p.S596F",{"v":0.017883701719353,"d":"1.79%"},{"v":1.7883701719353e-05,"d":"0.002%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["PCNX3","pecanex homolog 3 (Drosophila)","CCDS44650.1","chr11:65385491 C->A","p.L658M",{"v":0.017202024982880138,"d":"1.72%"},{"v":1.7202024982880137e-05,"d":"0.002%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["EIF3J","eukaryotic translation initiation factor 3 subunit J","CCDS10111.1","chr15:44829395 GGC->","NA",{"v":0.017143007966379627,"d":"1.71%"},{"v":1.7143007966379626e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["SFSWAP","splicing factor SWAP homolog","CCDS9273.1","chr12:132281734 AGA->","NA",{"v":0.01596627448353406,"d":"1.60%"},{"v":1.596627448353406e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["TMC4","transmembrane channel like 4","CCDS12882.1","chr19:54675747 TCC->","NA",{"v":0.01545745946746487,"d":"1.55%"},{"v":1.545745946746487e-05,"d":"0.002%"},"Deletion","Frameshift","N/A","N/A"]
["IQSEC2","IQ motif and Sec7 domain 2","CCDS48130.1","chrX:53264131 TGG->","NA",{"v":0.01430319587771306,"d":"1.43%"},{"v":1.430319587771306e-05,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["C6orf132","chromosome 6 open reading frame 132","CCDS47428.1","chr6:42072710 CTC->","NA",{"v":0.013633708928805551,"d":"1.36%"},{"v":1.3633708928805552e-05,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["ARX","aristaless related homeobox","CCDS14215.1","chrX:25025356 GGC->","NA",{"v":0.013408891294243523,"d":"1.34%"},{"v":1.3408891294243523e-05,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["NHS","NHS actin remodeling regulator","ENST00000380057","chrX:17705855 C->T","p.L22F",{"v":0.01236458822763373,"d":"1.24%"},{"v":1.236458822763373e-05,"d":"0.001%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["RAB40C","RAB40C, member RAS oncogene family","CCDS10413.1","chr16:677580 ->C","NA",{"v":0.012157710081990333,"d":"1.22%"},{"v":1.2157710081990334e-05,"d":"0.001%"},"Insertion","Frameshift","N/A","N/A"]
["C16orf91","Chromosome 16 Open Reading Frame 91","CCDS32360.1","chr16:1476278 C->A","p.Q345H",{"v":0.010624616159204356,"d":"1.06%"},{"v":1.0624616159204356e-05,"d":"0.001%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["EME2","Essential Meiotic Structure-Specific Endonuclease Subunit 2","CCDS32364.1","chr16:1824298 TGC->","NA",{"v":0.010398237958236498,"d":"1.04%"},{"v":1.0398237958236499e-05,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["ATP13A2","ATPase 13A2","CCDS175.1","chr1:17318887 G->","NA",{"v":0.009416368825244274,"d":"0.94%"},{"v":9.416368825244274e-06,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["ZIC3","Zic family member 3","CCDS14663.1","chrX:136648985 CGC->","NA",{"v":0.007449577577484566,"d":"0.74%"},{"v":7.449577577484566e-06,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["NAA30","N(alpha)-acetyltransferase 30, NatC catalytic subunit","CCDS32088.1","chr14:57858199 AGG->","NA",{"v":0.006076324436821256,"d":"0.61%"},{"v":6.076324436821257e-06,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["NDUFS3","NADH:ubiquinone oxidoreductase core subunit S3","CCDS7941.1","chr11:47600646 GGC->","NA",{"v":0.005768991264245782,"d":"0.58%"},{"v":5.768991264245782e-06,"d":"0.001%"},"Deletion","Frameshift","N/A","N/A"]
["CCKBR","cholecystokinin B receptor","CCDS7761.1","chr11:6292451 ->T","NA",{"v":0.004856612620845932,"d":"0.49%"},{"v":4.856612620845932e-06,"d":"0.000%"},"Insertion","Frameshift","N/A","N/A"]
["RUSC2","RUN and SH3 domain containing 2","CCDS35008.1","chr9:35560102 GCT->","NA",{"v":0.004578094022107555,"d":"0.46%"},{"v":4.5780940221075545e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["NOS2","nitric oxide synthase 2","CCDS11223.1","chr17:26099407 G->A","p.A1631V",{"v":0.004156390821168792,"d":"0.42%"},{"v":4.156390821168792e-06,"d":"0.000%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["WASL","Wiskott-Aldrich syndrome like","CCDS34743.1","chr7:123388755 GCG->","NA",{"v":0.0037526681996203847,"d":"0.38%"},{"v":3.7526681996203847e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["SNRNP35","small nuclear ribonucleoprotein U11/U12 subunit 35","CCDS45005.1","chr12:123950763 GA->","NA",{"v":0.003090433536315249,"d":"0.31%"},{"v":3.090433536315249e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["NBPF14","neuroblastoma breakpoint family member 14","CCDS30836.1","chr1:148009468 C->G","p.E1839D",{"v":0.0028870397155531064,"d":"0.29%"},{"v":2.8870397155531064e-06,"d":"0.000%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["FAM104B","family with sequence similarity 104 member B","CCDS35305.1","chrX:55172647 G->A","p.P221L",{"v":0.0026591287993901888,"d":"0.27%"},{"v":2.6591287993901887e-06,"d":"0.000%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["TFEB","transcription factor EB","CCDS4858.1","chr6:41658830 TGC->","NA",{"v":0.0025308133544632173,"d":"0.25%"},{"v":2.5308133544632173e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["SEPT9","Septin 9","CCDS45790.1","chr17:75478417 G->A","p.G913R",{"v":0.002218041442557708,"d":"0.22%"},{"v":2.218041442557708e-06,"d":"0.000%"},"Substitution","Non-synonymous coding","N/A","N/A"]
["ROR2","receptor tyrosine kinase like orphan receptor 2","CCDS6691.1","chr9:94486026 TCC->","NA",{"v":0.0014755834280224473,"d":"0.15%"},{"v":1.4755834280224474e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["PKD2","polycystin 2, transient receptor potential cation channel","CCDS3627.1","chr4:88929174 GAG->","NA",{"v":0.0011948588692365818,"d":"0.12%"},{"v":1.1948588692365818e-06,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["GLIS2","GLIS family zinc finger 2","CCDS10511.1","chr16:4384871 G->","NA",{"v":0.0008059668268336976,"d":"0.08%"},{"v":8.059668268336976e-07,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["HECTD4","HECT Domain E3 Ubiquitin Protein Ligase 4","CCDS44978.1","chr12:112622808 T->","NA",{"v":0.0001588946716427791,"d":"0.02%"},{"v":1.588946716427791e-07,"d":"0.000%"},"Deletion","Frameshift","N/A","N/A"]
["MUC4","mucin 4, cell surface associated","NM_018406","chr3:195508284 C->A","p.Q10167H",{"v":8.868818099477815e-05,"d":"0.01%"},{"v":8.868818099477815e-08,"d":"0.000%"},"Substitution","Non-synonymous coding","N/A","N/A"]