Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
MAP3K12	7786	broad.mit.edu	37	12	53881021	53881022	+	Frame_Shift_Ins	INS	-	-	GTGCTTCAGTAGATGAACAGTGTTAT			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53881021_53881022insGTGCTTCAGTAGATGAACAGTGTTAT	ENST00000547035.1	-	2	358_359	c.154_155insATAACACTGTTCATCTACTGAAGCAC	c.(154-156)gtgfs	p.V52fs	MAP3K12_ENST00000547488.1_Frame_Shift_Ins_p.V52fs|MAP3K12_ENST00000267079.2_Intron|MAP3K12_ENST00000547151.1_Intron			Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	46					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGGGTACCACATCTCGAAGT	0.619		NA											False	0	False	12:53881021	0
MYO5A	4644	broad.mit.edu	37	15	52675386	52675387	+	Splice_Site	INS	-	-	CACCCAGTGAGAAAGTACATATCT			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:52675386_52675387insCACCCAGTGAGAAAGTACATATCT	ENST00000399231.3	-	16	2158		c.e16-1		MYO5A_ENST00000356338.6_Splice_Site|MYO5A_ENST00000399233.2_Splice_Site|MYO5A_ENST00000553916.1_Splice_Site|MYO5A_ENST00000358212.6_Splice_Site	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	NA					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGTTTCTGAACTGCATGAAAAA	0.45		NA											False	0	False	15:52675386	0
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	by1000genomes	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682).		muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635		NA											False	1	False	16:72991713	0
MIR659	0	broad.mit.edu	37	22	38243711	38243757	+	RNA	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000384963.1	-	0	24_70					NR_030396.1					NA											NA						ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421		NA											False	1	False	22:38243711	0
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs144323459	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000509305.1	+	3	608_661	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP88del	C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618		NA											False	1	True	1:22987385	0
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs141544276		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548		NA											False	1	True	4:40434705	0
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212	byFrequency	TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding|protein serine/threonine kinase activity	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433		NA											False	1	False	6:7393450	0
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054).			extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65		NA											False	2	False	6:159655079	0
DTX2	113878	broad.mit.edu	37	7	76112193	76112193	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:76112193C>T	ENST00000324432.5	+	5	1147	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	DTX2_ENST00000307569.8_Missense_Mutation_p.R213C|DTX2_ENST00000413936.2_Missense_Mutation_p.R213C|DTX2_ENST00000446600.1_Missense_Mutation_p.R122C|DTX2_ENST00000446820.2_Missense_Mutation_p.R213C|DTX2_ENST00000430490.2_Missense_Mutation_p.R213C	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	213					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CGTGTCAGGCCGCTACCGCCA	0.662		NA											False	0	False	7:76112193	0
BIRC6	57448	broad.mit.edu	37	2	32774524	32774524	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:32774524T>C	ENST00000421745.2	+	65	13254	c.13120T>C	c.(13120-13122)Tca>Cca	p.S4374P		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4374					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCAGCCATGTCATCTTATCT	0.393		NA											False	0	False	2:32774524	0
LRIG1	26018	broad.mit.edu	37	3	66434562	66434562	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:66434562C>T	ENST00000383703.3	-	15	2599	c.1996G>A	c.(1996-1998)Gct>Act	p.A666T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A642T|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	642	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCACGGGCAGCGGGGAAATCC	0.562		NA											False	0	True	3:66434562	0
AHNAK2	113146	broad.mit.edu	37	14	105410162	105410162	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:105410162C>T	ENST00000333244.5	-	7	11745	c.11626G>A	c.(11626-11628)Gtg>Atg	p.V3876M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3876						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCTCGGGCACGTGGCCCTCC	0.592		NA											False	0	False	14:105410162	0
TP53	7157	broad.mit.edu	37	17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr17:7578395G>A	ENST00000420246.2	-	5	667	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_ENST00000413465.2_Missense_Mutation_p.H179Y|TP53_ENST00000455263.2_Missense_Mutation_p.H179Y|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179Y|TP53_ENST00000445888.2_Missense_Mutation_p.H179Y|TP53_ENST00000359597.4_Missense_Mutation_p.H179Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCTCATGGTGGGGGCAG	0.642		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7578395	0
CYP2A6	1548	broad.mit.edu	37	19	41351999	41351999	+	Missense_Mutation	SNP	C	C	G	rs58261757		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:41351999C>G	ENST00000301141.5	-	6	855	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	279					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	GGGTTCTTCTCCTCCTGCAGG	0.557		NA											False	0	False	19:41351999	0
KRT78	196374	broad.mit.edu	37	12	53242653	53242653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:53242653C>T	ENST00000304620.4	-	1	125	c.62G>A	c.(61-63)cGc>cAc	p.R21H		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	21	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GCCCCTTGAGCGAGCAGAACA	0.647		NA											False	0	True	12:53242653	0
FRY	10129	broad.mit.edu	37	13	32850630	32850630	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:32850630C>T	ENST00000380250.3	+	57	8812	c.8316C>T	c.(8314-8316)ctC>ctT	p.L2772L	FRY_ENST00000542859.1_Silent_p.L142L	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2772					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGGACAAGCTCAAGTTCAGTG	0.393		NA											False	0	False	13:32850630	0
EIF3A	8661	broad.mit.edu	37	10	120801997	120801997	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:120801997G>A	ENST00000369144.3	-	19	3162	c.3035C>T	c.(3034-3036)gCg>gTg	p.A1012V	EIF3A_ENST00000541549.1_Missense_Mutation_p.A978V	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1012	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTCATCATCCGCATGACGCCA	0.572		NA											False	0	False	10:120801997	0
ZNF606	80095	broad.mit.edu	37	19	58491598	58491598	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:58491598A>C	ENST00000341164.4	-	7	1070	c.450T>G	c.(448-450)atT>atG	p.I150M	ZNF606_ENST00000536132.1_Missense_Mutation_p.I60M	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CTTCCTCAAAAATGCTCTGTG	0.383		NA											False	0	True	19:58491598	0
CCDC105	126402	broad.mit.edu	37	19	15121740	15121740	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:15121740C>T	ENST00000292574.3	+	1	185	c.103C>T	c.(103-105)Ctg>Ttg	p.L35L		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	35					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGCGCACATTCTGACCGATCG	0.706		NA											False	0	False	19:15121740	0
EVC	2121	broad.mit.edu	37	4	5755572	5755572	+	Missense_Mutation	SNP	C	C	T	rs146028983		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr4:5755572C>T	ENST00000382674.2	+	10	1560	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	EVC_ENST00000509451.1_Missense_Mutation_p.T459M|EVC_ENST00000264956.6_Missense_Mutation_p.T459M			P57679	EVC_HUMAN	Ellis van Creveld syndrome	459					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GTGGAGGGAACGGCAAAACTC	0.567		NA											False	0	False	4:5755572	0
FADS3	3995	broad.mit.edu	37	11	61645989	61645989	+	Missense_Mutation	SNP	C	C	T	rs144099007		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:61645989C>T	ENST00000540820.1	-	5	814	c.742G>A	c.(742-744)Gtc>Atc	p.V248I	FADS3_ENST00000278829.2_Missense_Mutation_p.V248I|FADS3_ENST00000525588.1_Missense_Mutation_p.V220I|FADS3_ENST00000527697.1_Missense_Mutation_p.V124I			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	248					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCCACCTCGACGGATGACTCC	0.647		NA											False	0	False	11:61645989	0
CBLB	868	broad.mit.edu	37	3	105420979	105420979	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:105420979G>A	ENST00000264122.4	-	12	2239	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CBLB_ENST00000403724.1_Missense_Mutation_p.R640W|CBLB_ENST00000405772.1_Missense_Mutation_p.R640W|CBLB_ENST00000394027.3_Missense_Mutation_p.R662W	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	640	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CTGTGTTTCCGCATAAGCACT	0.473		NA	Mis S		AML								False	0	False	3:105420979	0
EID2B	126272	broad.mit.edu	37	19	40023035	40023035	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40023035G>A	ENST00000326282.4	-	1	459	c.408C>T	c.(406-408)ccC>ccT	p.P136P	EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	136					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCATCTGCGGGGGATCCGCGT	0.597		NA											False	0	True	19:40023035	0
SPEF2	79925	broad.mit.edu	37	5	35771762	35771762	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:35771762C>A	ENST00000440995.2	+	27	3838	c.3838C>A	c.(3838-3840)Cca>Aca	p.P1280T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P1285T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1285					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAAACCAGCCAGCAGACCC	0.383		NA											False	0	True	5:35771762	0
ZNF438	220929	broad.mit.edu	37	10	31137813	31137813	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:31137813G>A	ENST00000452305.1	-	8	2054	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	ZNF438_ENST00000442986.1_Silent_p.H507H|ZNF438_ENST00000538351.2_Silent_p.H458H|ZNF438_ENST00000331737.6_Silent_p.H497H|ZNF438_ENST00000361310.3_Silent_p.H507H|ZNF438_ENST00000413025.1_Silent_p.H507H|ZNF438_ENST00000375311.1_Silent_p.H71H|ZNF438_ENST00000444692.2_Silent_p.H497H|ZNF438_ENST00000436087.2_Silent_p.H507H	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	507					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CGTGACATCTGTGCCAAGGCT	0.483		NA											False	0	False	10:31137813	0
KLRC3	3823	broad.mit.edu	37	12	10568367	10568367	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:10568367C>T	ENST00000396439.2	-	6	658	c.614G>A	c.(613-615)cGt>cAt	p.R205H	KLRC3_ENST00000381904.2_Missense_Mutation_p.R205H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.R205H|KLRC3_ENST00000381903.2_Missense_Mutation_p.R205H	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3	NA										large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAGTTACGTTCAGCATG	0.368		NA											False	0	False	12:10568367	0
GLO1	2739	broad.mit.edu	37	6	38650584	38650584	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:38650584C>T	ENST00000373365.4	-	4	462	c.376G>A	c.(376-378)Ggt>Agt	p.G126S	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	126					anti-apoptosis|carbohydrate metabolic process	cytoplasm	lactoylglutathione lyase activity|metal ion binding			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)	GCAAACTTACCGAATCCTCGA	0.338		NA											False	0	False	6:38650584	0
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:43922079G>T	ENST00000602198.1	+	7	937	c.495G>T	c.(493-495)ggG>ggT	p.G165G	TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G|TEX101_ENST00000598265.1_Silent_p.G147G	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	147						anchored to membrane|plasma membrane		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493		NA											False	0	True	19:43922079	0
ZSCAN32	54925	broad.mit.edu	37	16	3434741	3434741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:3434741G>A	ENST00000396852.4	-	6	1259	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	ZSCAN32_ENST00000422427.2_Missense_Mutation_p.R106C|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.R318C|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.R29C|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.R318C|ZSCAN32_ENST00000439568.2_Missense_Mutation_p.R29C|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.R106C	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1			zinc finger and SCAN domain containing 32	NA											NA						CTCACTTTGCGGTAACTCAAC	0.542		NA											False	0	False	16:3434741	0
VPS36	51028	broad.mit.edu	37	13	53013235	53013235	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:53013235C>G	ENST00000378060.4	-	3	261	c.234G>C	c.(232-234)aaG>aaC	p.K78N	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	78	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		AGACTTACCTCTTCCCAATTC	0.408		NA											False	0	False	13:53013235	0
ODF2	4957	broad.mit.edu	37	9	131246280	131246280	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:131246280G>A	ENST00000434106.3	+	11	1414	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	ODF2_ENST00000393527.3_Missense_Mutation_p.A327T|ODF2_ENST00000372814.3_Missense_Mutation_p.A395T|ODF2_ENST00000546203.1_Missense_Mutation_p.A332T|ODF2_ENST00000372807.5_Missense_Mutation_p.A346T|ODF2_ENST00000351030.3_Missense_Mutation_p.A346T|ODF2_ENST00000393533.2_Missense_Mutation_p.A351T|ODF2_ENST00000372791.3_Missense_Mutation_p.A332T|ODF2_ENST00000444119.2_Missense_Mutation_p.A327T|ODF2_ENST00000604420.1_Missense_Mutation_p.A351T|ODF2_ENST00000448249.3_Missense_Mutation_p.A270T	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	NA					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	p.A327T(1)|p.A351T(1)|p.A395T(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GCATTTGCAGGCACAGCTTCG	0.532		NA											False	0	False	9:131246280	0
ARHGEF11	9826	broad.mit.edu	37	1	156939813	156939813	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:156939813T>C	ENST00000368194.3	-	9	1764	c.725A>G	c.(724-726)gAc>gGc	p.D242G	ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D202G	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	202					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGGCTGGTGTCACCATATAG	0.507		NA											False	0	False	1:156939813	0
UBA2	10054	broad.mit.edu	37	19	34922781	34922781	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:34922781G>A	ENST00000246548.4	+	3	308	c.238G>A	c.(238-240)Gta>Ata	p.V80I	UBA2_ENST00000439527.2_5'UTR	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	80					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAAGGAAAGTGTACTGCAGTT	0.368		NA											False	0	False	19:34922781	0
OPA1	4976	broad.mit.edu	37	3	193374974	193374974	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:193374974G>C	ENST00000361510.2	+	23	2518	c.2284G>C	c.(2284-2286)Gaa>Caa	p.E762Q	OPA1_ENST00000361908.3_Missense_Mutation_p.E744Q|OPA1_ENST00000392438.3_Missense_Mutation_p.E707Q|OPA1_ENST00000361150.2_Missense_Mutation_p.E708Q|OPA1_ENST00000361715.2_Missense_Mutation_p.E726Q|OPA1_ENST00000361828.2_Missense_Mutation_p.E725Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	707					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TGTTAAGGAAGAAAGTATTAA	0.383		NA											False	0	True	3:193374974	0
PCDHA11	0	broad.mit.edu	37	5	140248986	140248986	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140248986G>A	ENST00000398640.2	+	1	298	c.298G>A	c.(298-300)Gcg>Acg	p.A100T	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018902.3	NP_061725.1				NA										breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCAGAGCGCGGAGTGCAG	0.562		NA											False	0	False	5:140248986	0
MB21D2	151963	broad.mit.edu	37	3	192517236	192517236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:192517236G>A	ENST00000392452.2	-	2	735	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	139										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GCTGAGTGGCGCATGTCGAGT	0.507		NA											False	0	False	3:192517236	0
PCDHA6	0	broad.mit.edu	37	5	140209287	140209287	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140209287G>A	ENST00000529310.1	+	1	1725	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1				NA										NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.682		NA											False	0	True	5:140209287	0
RDH5	5959	broad.mit.edu	37	12	56118220	56118220	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:56118220C>A	ENST00000257895.5	+	5	1000	c.848C>A	c.(847-849)cCa>cAa	p.P283Q	RDH5_ENST00000547072.1_Missense_Mutation_p.P186Q|RDH5_ENST00000548082.1_Missense_Mutation_p.P283Q|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	283					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity	p.Y281fs*>29(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CGCTACAGCCCAGGTTGGGAT	0.632		NA									OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	12:56118220	0
DPY19L2	283417	broad.mit.edu	37	12	64041124	64041124	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:64041124A>G	ENST00000324472.4	-	5	793	c.610T>C	c.(610-612)Tgc>Cgc	p.C204R	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	204					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATGAATGTGCAATACCAGGAG	0.303		NA											False	0	False	12:64041124	0
MYOT	9499	broad.mit.edu	37	5	137217667	137217667	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:137217667G>A	ENST00000239926.4	+	6	1063	c.689G>A	c.(688-690)aGa>aAa	p.R230K	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.R115K|MYOT_ENST00000421631.2_Missense_Mutation_p.R46K|MYOT_ENST00000509812.1_Intron	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	230	Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTAGAAGTAGATCAACCTCA	0.338		NA											False	0	False	5:137217667	0
TOMM22	56993	broad.mit.edu	37	22	39079827	39079827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr22:39079827C>T	ENST00000216034.4	+	4	441	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_020243.4	NP_064628.1	Q9NS69	TOM22_HUMAN	translocase of outer mitochondrial membrane 22 homolog (yeast)	137	C-tail signal; necessary for mitochondrion outer membrane localization and integration in the TOM complex (By similarity).				protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity|receptor activity			large_intestine(1)|lung(2)	3	Melanoma(58;0.04)					GCTCTACCCTCACTTCCTGGA	0.433		NA											False	0	False	22:39079827	0
KALRN	8997	broad.mit.edu	37	3	123953690	123953690	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:123953690C>T	ENST00000360013.3	+	3	284	c.157C>T	c.(157-159)Cga>Tga	p.R53*	KALRN_ENST00000240874.3_Nonsense_Mutation_p.R53*|KALRN_ENST00000460856.1_Nonsense_Mutation_p.R53*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	53	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCGTGATAAGCGAGGCGGACC	0.507		NA											False	0	False	3:123953690	0
RUNX3	864	broad.mit.edu	37	1	25229012	25229012	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:25229012C>T	ENST00000399916.1	-	6	1329	c.891G>A	c.(889-891)acG>acA	p.T297T	RUNX3_ENST00000308873.6_Silent_p.T283T|RUNX3_ENST00000540420.1_Silent_p.T190T|RUNX3_ENST00000338888.3_Silent_p.T297T	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	283	Pro/Ser/Thr-rich.			MP -> IS (in Ref. 2; CAA56093).	cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		TGCCCGAGGGCGTGGCGCTGT	0.701		NA											False	0	True	1:25229012	0
DUS3L	56931	broad.mit.edu	37	19	5789413	5789413	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:5789413G>C	ENST00000309061.7	-	3	801	c.705C>G	c.(703-705)ttC>ttG	p.F235L	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	235					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	p.F235F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GGCCCTGGCTGAACCGGCGCA	0.726		NA											False	0	False	19:5789413	0
CNTNAP2	26047	broad.mit.edu	37	7	147869372	147869372	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:147869372C>T	ENST00000361727.3	+	18	3328	c.2812C>T	c.(2812-2814)Cgc>Tgc	p.R938C	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	938	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGCTGCATCCGCTCCTTGAG	0.542		NA								HNSCC(39;0.1)			False	0	False	7:147869372	0
PCDHGA4	0	broad.mit.edu	37	5	140734960	140734960	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140734960C>T	ENST00000571252.1	+	1	193	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018917.2	NP_061740				NA										endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGGAGTCCGCATCGTCTC	0.647		NA											False	0	False	5:140734960	0
OBSCN	84033	broad.mit.edu	37	1	228547344	228547344	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228547344C>T	ENST00000284548.11	+	81	18825	c.18751C>T	c.(18751-18753)Cgg>Tgg	p.R6251W	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3370W	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6252					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCAACGACGGTCCCCCAG	0.672		NA											False	0	False	1:228547344	0
NFASC	23114	broad.mit.edu	37	1	204970416	204970416	+	Splice_Site	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:204970416T>A	ENST00000367172.4	+	28	3785		c.e28+2		NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Splice_Site|NFASC_ENST00000367170.4_Splice_Site|NFASC_ENST00000339876.6_Splice_Site|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Splice_Site|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000338586.6_Intron			O94856	NFASC_HUMAN	neurofascin	NA					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACATCGACAGTAAGCATTGCT	0.577		NA											False	0	False	1:204970416	0
PCNX	22990	broad.mit.edu	37	14	71455320	71455320	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:71455320G>A	ENST00000304743.2	+	7	2794	c.2348G>A	c.(2347-2349)cGt>cAt	p.R783H	PCNX_ENST00000238570.5_Missense_Mutation_p.R783H|PCNX_ENST00000439984.3_Intron	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	783						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TCATTTCGCCGTGAACGCAGC	0.547		NA											False	0	False	14:71455320	0
TUBA3C	7278	broad.mit.edu	37	13	19751261	19751261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:19751261C>T	ENST00000400113.3	-	4	966	c.862G>A	c.(862-864)Gtg>Atg	p.V288M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	288					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCAGCCACGGACAGCTGC	0.607		NA											False	0	False	13:19751261	0
TRUB1	142940	broad.mit.edu	37	10	116698211	116698211	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:116698211T>C	ENST00000298746.3	+	1	260	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	67					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		CAAGCTGCTGTCCTTGAGCGG	0.662		NA											False	0	False	10:116698211	0
CMYA5	202333	broad.mit.edu	37	5	79024983	79024983	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:79024983G>A	ENST00000446378.2	+	2	426	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	132						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGGTTCGGAAAAGGACT	0.408		NA											False	0	False	5:79024983	0
KCNH2	3757	broad.mit.edu	37	7	150656796	150656796	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:150656796C>T	ENST00000392968.2	-	1	1168	c.48G>A	c.(46-48)gtG>gtA	p.V16V	KCNH2_ENST00000262186.5_Silent_p.V112V|KCNH2_ENST00000430723.3_Silent_p.V112V			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	112					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TCACGGGCACCACATCCACCA	0.582		NA											False	0	False	7:150656796	0
PYCRL	65263	broad.mit.edu	37	8	144688047	144688047	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:144688047C>T	ENST00000220966.6	-	6	713	c.684G>A	c.(682-684)acG>acA	p.T228T	PYCRL_ENST00000377579.3_Silent_p.T79T|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	216					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCATCTTGGCCGTCCCCTGAG	0.687		NA											False	0	False	8:144688047	0
PDZRN4	29951	broad.mit.edu	37	12	41966623	41966623	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:41966623A>C	ENST00000298919.7	+	10	1650	c.1262A>C	c.(1261-1263)cAg>cCg	p.Q421P	PDZRN4_ENST00000402685.2_Missense_Mutation_p.Q681P|PDZRN4_ENST00000539469.2_Missense_Mutation_p.Q423P			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	681	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CTTGAGTGTCAGAATATCATG	0.453		NA											False	0	False	12:41966623	0
DRD2	1813	broad.mit.edu	37	11	113295218	113295218	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:113295218G>A	ENST00000362072.3	-	2	500	c.156C>T	c.(154-156)aaC>aaT	p.N52N	DRD2_ENST00000542968.1_Silent_p.N52N|DRD2_ENST00000355319.2_Silent_p.N52N|DRD2_ENST00000538967.1_Silent_p.N52N|DRD2_ENST00000544518.1_Silent_p.N52N|DRD2_ENST00000346454.3_Silent_p.N52N|DRD2_ENST00000535984.1_5'UTR	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	52					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.N52N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	ACACCAGCACGTTGCCGAAGA	0.627		NA											False	0	False	11:113295218	0
CAD	790	broad.mit.edu	37	2	27458194	27458194	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:27458194G>A	ENST00000264705.4	+	24	4030	c.3868G>A	c.(3868-3870)Ggc>Agc	p.G1290S	CAD_ENST00000403525.1_Missense_Mutation_p.G1227S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1290	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGAGGTGGCCGGCTTTGGGGA	0.567		NA											False	0	False	2:27458194	0
LIFR	3977	broad.mit.edu	37	5	38493808	38493808	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:38493808G>A	ENST00000263409.4	-	14	2127	c.1965C>T	c.(1963-1965)tgC>tgT	p.C655C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Silent_p.C655C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	655	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TGACGTAGTCGCAAGTCATGT	0.443		NA	T	PLAG1	salivary adenoma								False	0	False	5:38493808	0
ASB4	51666	broad.mit.edu	37	7	95115286	95115286	+	Translation_Start_Site	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:95115286G>A	ENST00000325885.5	+	1	74	c.3G>A	c.(1-3)atG>atA	p.M1I	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Start_Codon_SNP_p.M1I	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	1					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			GAGGAAGGATGGACGGCACCA	0.483		NA											False	0	False	7:95115286	0
CSPP1	79848	broad.mit.edu	37	8	67998296	67998296	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:67998296A>T	ENST00000262210.5	+	4	393	c.362A>T	c.(361-363)cAt>cTt	p.H121L	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	121						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CGGAAGAAACATAAATTAAAA	0.313		NA											False	0	False	8:67998296	0
FCGBP	8857	broad.mit.edu	37	19	40411753	40411753	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:40411753G>A	ENST00000221347.6	-	7	3882	c.3875C>T	c.(3874-3876)gCc>gTc	p.A1292V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1292	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.632		NA											False	0	False	19:40411753	0
DLGAP5	9787	broad.mit.edu	37	14	55618581	55618581	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr14:55618581C>T	ENST00000247191.2	-	17	2416	c.2200G>A	c.(2200-2202)Gca>Aca	p.A734T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.A734T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	734					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						ATATCATCTGCTACTCCACCA	0.358		NA											False	0	False	14:55618581	0
SPG11	80208	broad.mit.edu	37	15	44888457	44888457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:44888457T>A	ENST00000261866.7	-	25	4274	c.4258A>T	c.(4258-4260)Agc>Tgc	p.S1420C	SPG11_ENST00000558319.1_Missense_Mutation_p.S1420C|SPG11_ENST00000427534.2_Missense_Mutation_p.S1420C|SPG11_ENST00000535302.2_Missense_Mutation_p.S1420C	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1420					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACTTGATCGCTGTCCATTTTG	0.473		NA											False	0	False	15:44888457	0
CCDC80	151887	broad.mit.edu	37	3	112324405	112324405	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:112324405C>T	ENST00000206423.3	-	8	3665	c.2712G>A	c.(2710-2712)gcG>gcA	p.A904A	CCDC80_ENST00000439685.2_Silent_p.A904A	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	904										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ACTGCTGAATCGCCATTTCCT	0.473		NA											False	0	False	3:112324405	0
PCDHB6	0	broad.mit.edu	37	5	140532201	140532201	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:140532201G>A	ENST00000231136.1	+	1	2363	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R652Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		788					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCACCTCTCGGAATAGCTTC	0.418		NA											False	0	False	5:140532201	0
FOXI1	2299	broad.mit.edu	37	5	169533031	169533031	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:169533031G>C	ENST00000449804.2	+	1	115	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	FOXI1_ENST00000306268.6_Missense_Mutation_p.E24Q	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	24	Pro-rich.				epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCGGCCAGGAGCCCCCCGA	0.701		NA							Pendred syndrome				False	0	False	5:169533031	0
OAS2	0	broad.mit.edu	37	12	113442853	113442853	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:113442853G>A	ENST00000392583.2	+	7	1501	c.1294G>A	c.(1294-1296)Gtc>Atc	p.V432I	OAS2_ENST00000342315.4_Missense_Mutation_p.V432I|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	432	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCACAAAATCGTCAAGGAAAT	0.507		NA											False	0	False	12:113442853	0
DNAH5	1767	broad.mit.edu	37	5	13766211	13766211	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr5:13766211G>A	ENST00000265104.4	-	59	10079	c.9975C>T	c.(9973-9975)tgC>tgT	p.C3325C	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3325	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGCAGTACGCAATCCATGA	0.517		NA							Kartagener syndrome				False	0	False	5:13766211	0
TMC5	79838	broad.mit.edu	37	16	19498557	19498557	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:19498557C>T	ENST00000396229.2	+	17	3231	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	TMC5_ENST00000564959.1_Missense_Mutation_p.R511W|TMC5_ENST00000561503.1_Missense_Mutation_p.R469W|TMC5_ENST00000219821.5_Missense_Mutation_p.R582W|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000381414.4_Missense_Mutation_p.R828W|TMC5_ENST00000541464.1_Missense_Mutation_p.R776W|TMC5_ENST00000542583.2_Missense_Mutation_p.R828W	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	828						integral to membrane		p.R828W(1)|p.R582W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAAAGCCTGGCGGGCCTCACA	0.567		NA											False	0	True	16:19498557	0
PAPPA	5069	broad.mit.edu	37	9	119106961	119106961	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:119106961C>T	ENST00000328252.3	+	14	4120	c.3751C>T	c.(3751-3753)Cgg>Tgg	p.R1251W	PAPPA_ENST00000534838.1_Missense_Mutation_p.R289W	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1251	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTCCAGATACGGCGGGATGA	0.577		NA											False	0	False	9:119106961	0
CDH22	64405	broad.mit.edu	37	20	44839199	44839199	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr20:44839199G>A	ENST00000372262.3	-	6	1433	c.1033C>T	c.(1033-1035)Cgc>Tgc	p.R345C	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Splice_Site_p.R345C	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	345	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				AAGTCCAGGCGCTGCGGGAGG	0.672		NA											False	0	False	20:44839199	0
CACNG3	10368	broad.mit.edu	37	16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:24366270G>A	ENST00000005284.3	+	3	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	138					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.A138T(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CATTCTCAGCGCGGGCATCTT	0.572		NA											False	0	False	16:24366270	0
C13orf35	400165	broad.mit.edu	37	13	113333852	113333852	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr13:113333852G>A	ENST00000356049.1	+	2	917	c.159G>A	c.(157-159)ccG>ccA	p.P53P		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	53										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			ATGAGCCGCCGATCCGAGCTC	0.607		NA											False	0	False	13:113333852	0
URI1	8725	broad.mit.edu	37	19	30500170	30500170	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr19:30500170C>T	ENST00000392271.1	+	8	1242	c.717C>T	c.(715-717)gaC>gaT	p.D239D	URI1_ENST00000360605.4_Silent_p.D297D|URI1_ENST00000312051.6_Silent_p.D275D|URI1_ENST00000542441.2_Silent_p.D315D	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	315					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding				NA						acattgacgacgatgatggtg	0.403		NA											False	0	False	19:30500170	0
MEN1	0	broad.mit.edu	37	11	64572244	64572244	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:64572244G>A	ENST00000337652.1	-	10	1913	c.1410C>T	c.(1408-1410)gcC>gcT	p.A470A	MEN1_ENST00000377321.1_Silent_p.A430A|MEN1_ENST00000315422.4_Silent_p.A465A|MEN1_ENST00000312049.6_Silent_p.A465A|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377326.3_Silent_p.A465A|MEN1_ENST00000377316.2_Silent_p.A410A|MEN1_ENST00000443283.1_Silent_p.A470A|MEN1_ENST00000394376.1_Silent_p.A470A|MEN1_ENST00000377313.1_Silent_p.A470A|MEN1_ENST00000394374.2_Silent_p.A470A	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	470					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCTCGGCCTCGGCCGCCTCGG	0.726		NA	"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				False	0	True	11:64572244	0
GLI3	2737	broad.mit.edu	37	7	42017203	42017203	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:42017203T>G	ENST00000395925.3	-	12	1850	c.1766A>C	c.(1765-1767)aAt>aCt	p.N589T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	589					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCAGAGGCATTTGAGAAAGC	0.468		NA							Pallister-Hall syndrome;Greig Cephalopolysyndactyly		OREG0018015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	True	7:42017203	0
MUC17	140453	broad.mit.edu	37	7	100685064	100685064	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:100685064G>C	ENST00000306151.4	+	3	10431	c.10367G>C	c.(10366-10368)gGa>gCa	p.G3456A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3456	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTAGTGAAGGAAGCACTCCA	0.512		NA											False	0	True	7:100685064	0
PRSS38	339501	broad.mit.edu	37	1	228004950	228004950	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:228004950G>A	ENST00000366757.3	+	3	376	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	118	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTAGGCCTCGTAAACCTCAG	0.552		NA											False	0	False	1:228004950	0
TOP2B	7155	broad.mit.edu	37	3	25641006	25641006	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:25641006C>A	ENST00000435706.2	-	35	4816	c.4615G>T	c.(4615-4617)Gca>Tca	p.A1539S	TOP2B_ENST00000542520.1_Missense_Mutation_p.A396S|TOP2B_ENST00000264331.4_Missense_Mutation_p.A1544S|TOP2B_ENST00000540199.1_Missense_Mutation_p.A396S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1544					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						CTTTTCTTTGCCCCTCGGCCT	0.383		NA											False	0	True	3:25641006	0
ARHGAP18	93663	broad.mit.edu	37	6	129920398	129920398	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr6:129920398C>T	ENST00000368149.2	-	12	1764	c.1676G>A	c.(1675-1677)cGa>cAa	p.R559Q		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	559					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		ATATTTTTCTCGGTCATAAGC	0.294		NA											False	0	False	6:129920398	0
SMARCA2	6595	broad.mit.edu	37	9	2054681	2054681	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:2054681C>T	ENST00000382203.1	+	6	1340	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	SMARCA2_ENST00000382194.1_Silent_p.T377T|SMARCA2_ENST00000349721.2_Silent_p.T377T|SMARCA2_ENST00000357248.2_Silent_p.T377T			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	377					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAAAGCAACCGTGGAACTAA	0.403		NA											False	0	False	9:2054681	0
CYP1A2	1544	broad.mit.edu	37	15	75042757	75042757	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:75042757C>T	ENST00000343932.4	+	2	741	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	226					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.F226F(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCATGAGTTCGTGGAGACTG	0.572		NA											False	0	False	15:75042757	0
GDPGP1	390637	broad.mit.edu	37	15	90784172	90784172	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr15:90784172C>A	ENST00000558017.1	+	4	452	c.32C>A	c.(31-33)tCc>tAc	p.S11Y	GDPGP1_ENST00000329600.6_Missense_Mutation_p.S11Y	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN	GDP-D-glucose phosphorylase 1	11					glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity				NA						AACGAAACTTCCTATTTGCTG	0.453		NA											False	0	False	15:90784172	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
CFLAR	8837	broad.mit.edu	37	2	201994665	201994665	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr2:201994665G>A	ENST00000309955.3	+	2	592	c.77G>A	c.(76-78)cGg>cAg	p.R26Q	CFLAR_ENST00000341222.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000395148.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000340870.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000443227.1_Intron|CFLAR_ENST00000342795.5_Missense_Mutation_p.R26Q|CFLAR_ENST00000341582.6_Missense_Mutation_p.R26Q|CFLAR_ENST00000440180.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000423241.2_Missense_Mutation_p.R26Q|CFLAR_ENST00000457277.1_Missense_Mutation_p.R26Q|CFLAR_ENST00000355558.4_Missense_Mutation_p.R26Q	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	NA	DED 1.|Interaction with FADD.|Interaction with caspase-8 propeptide.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						TTTTTGTGCCGGGATGTTGCT	0.478		NA											False	0	True	2:201994665	0
EPHB2	2048	broad.mit.edu	37	1	23239043	23239043	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:23239043G>A	ENST00000400191.3	+	15	2821	c.2803G>A	c.(2803-2805)Gcc>Acc	p.A935T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A930T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A935T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A936T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	935	SAM.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GGAGAGCTTCGCCAATGCCGG	0.592		NA											False	0	False	1:23239043	0
TENM4	26011	broad.mit.edu	37	11	78380090	78380090	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr11:78380090C>T	ENST00000278550.7	-	32	7762	c.7300G>A	c.(7300-7302)Gag>Aag	p.E2434K		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4	NA											NA						TTCCACAGCTCGTGGTCTGGG	0.517		NA											False	0	False	11:78380090	0
NME9	347736	broad.mit.edu	37	3	138022470	138022470	+	Silent	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr3:138022470G>A	ENST00000383180.2	-	11	861	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NME9_ENST00000484930.1_Silent_p.Y206Y|NME9_ENST00000333911.3_Silent_p.Y269Y|NME9_ENST00000536478.1_Silent_p.Y208Y|NME9_ENST00000317876.4_Silent_p.Y208Y|NME9_ENST00000341790.5_Silent_p.Y206Y	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	269	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.Y208Y(1)			NA						TTTCTGTGCCGTACTGAGCTC	0.438		NA											False	0	False	3:138022470	0
FGF13	2258	broad.mit.edu	37	X	137715118	137715118	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chrX:137715118C>T	ENST00000315930.6	-	5	1292	c.631G>A	c.(631-633)Gat>Aat	p.D211N	FGF13_ENST00000541469.1_Missense_Mutation_p.D165N|FGF13_ENST00000305414.4_Missense_Mutation_p.D158N|FGF13_ENST00000370603.3_Missense_Mutation_p.D221N|FGF13_ENST00000441825.2_Missense_Mutation_p.D192N	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	211					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCGTGAGATCGTGCAGTGAT	0.483		NA											False	0	False	X:137715118	0
TUBB8	347688	broad.mit.edu	37	10	93797	93797	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr10:93797C>T	ENST00000447903.2	-	4	634	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.V179M			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	179					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GGCTCCACCACGGTGTCCGAC	0.522		NA											False	0	False	10:93797	0
CR2	1380	broad.mit.edu	37	1	207640107	207640107	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr1:207640107G>A	ENST00000367057.3	+	2	484	c.295G>A	c.(295-297)Gga>Aga	p.G99R	CR2_ENST00000367058.3_Missense_Mutation_p.G99R|CR2_ENST00000458541.2_Missense_Mutation_p.G99R|CR2_ENST00000367059.3_Missense_Mutation_p.G99R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	99	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.G99*(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGTACCAGGAGGATACAAAAT	0.408		NA											False	0	False	1:207640107	0
PCLO	27445	broad.mit.edu	37	7	82791717	82791717	+	Silent	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:82791717C>T	ENST00000333891.9	-	1	529	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PCLO_ENST00000423517.2_Silent_p.Q64Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	NA					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGGCAGCCCCTGCGCCCTTG	0.632		NA											False	0	True	7:82791717	0
GSAP	54103	broad.mit.edu	37	7	77004376	77004376	+	Splice_Site	SNP	T	T	C			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr7:77004376T>C	ENST00000257626.7	-	11	862	c.784A>G	c.(784-786)Aaa>Gaa	p.K262E		NM_017439.3	NP_059135.2			gamma-secretase activating protein	NA											NA						ATAACTTACTTAAATCCTGAG	0.289		NA											False	0	True	7:77004376	0
KCNB2	9312	broad.mit.edu	37	8	73848876	73848876	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr8:73848876G>A	ENST00000523207.1	+	3	1874	c.1286G>A	c.(1285-1287)cGc>cAc	p.R429H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAGCAGAAACGCCAAGAGAAA	0.443		NA											False	0	False	8:73848876	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078062	46078062	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr21:46078062G>A	ENST00000397907.1	+	1	214	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	56	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGTGTGCGTGCCCGTGAG	0.642		NA											False	0	True	21:46078062	0
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517		NA											False	0	False	16:70841641	0
GBA2	57704	broad.mit.edu	37	9	35738753	35738753	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUQ-01A-22D-A40W-08	TCGA-IB-AAUQ-10A-01D-A40W-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	837600db-3ffb-46b8-81d7-5492b8707ab4	de829b0b-8a4b-4798-8703-5098c0a43740	g.chr9:35738753C>T	ENST00000378094.4	-	12	2456	c.1943G>A	c.(1942-1944)tGt>tAt	p.C648Y	GBA2_ENST00000378103.3_Missense_Mutation_p.C648Y|GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.C654Y			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	648					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTTACTAGACACACAGGCCA	0.522		NA											False	0	True	9:35738753	0
