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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	92					0	0	0.000248	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591510	46591510	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:46591510C>G	ENST00000398637.5	-	16	2049	c.1355G>C	c.(1354-1356)aGa>aCa	p.R452T	SLC38A1_ENST00000546893.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.R452T|SLC38A1_ENST00000439706.1_Missense_Mutation_p.R452T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	452					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			TACCCAAATTCTTTGAGTTCC	0.328000													19	60					0	0	0.001523	0	0
TUSC3	7991	broad.mit.edu	37	8	15517104	15517104	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:15517104G>A	ENST00000382020.4	+	4	723	c.515G>A	c.(514-516)gGa>gAa	p.G172E	TUSC3_ENST00000509380.1_Missense_Mutation_p.G172E|TUSC3_ENST00000506802.1_Missense_Mutation_p.G172E|TUSC3_ENST00000503191.1_3'UTR|TUSC3_ENST00000503731.1_Missense_Mutation_p.G172E	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	172					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CAAAGAATTGGATTTGCAGCT	0.393000													12	77					0	0	0.001368	0	0
RNF145	153830	broad.mit.edu	37	5	158630649	158630649	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:158630649T>C	ENST00000274542.2	-	2	87	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000520638.1_Missense_Mutation_p.K7E|RNF145_ENST00000518802.1_Missense_Mutation_p.K23E|RNF145_ENST00000519865.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.K10E	NM_144726.2	NP_653327.1	Q96MT1	RN145_HUMAN	ring finger protein 145	0						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttctttttttttttcttGGAG	0.363000													12	36					0	0	0.000978	0	0
NUMB	8650	broad.mit.edu	37	14	73743879	73743879	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:73743879G>A	ENST00000556772.1	-	7	3218	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	NUMB_ENST00000559312.1_Nonsense_Mutation_p.Q260*|NUMB_ENST00000557597.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000555394.1_Nonsense_Mutation_p.Q407*|NUMB_ENST00000555738.2_Nonsense_Mutation_p.Q298*|NUMB_ENST00000555238.1_Nonsense_Mutation_p.Q455*|NUMB_ENST00000356296.4_Nonsense_Mutation_p.Q407*|NUMB_ENST00000554521.2_Nonsense_Mutation_p.Q249*|NUMB_ENST00000554546.1_Nonsense_Mutation_p.Q396*|NUMB_ENST00000355058.3_Nonsense_Mutation_p.Q455*|NUMB_ENST00000544991.3_Nonsense_Mutation_p.Q260*|NUMB_ENST00000535282.1_Nonsense_Mutation_p.Q444*|NUMB_ENST00000454166.4_Nonsense_Mutation_p.Q309*|NUMB_ENST00000560335.1_Nonsense_Mutation_p.Q309*|NUMB_ENST00000359560.3_Nonsense_Mutation_p.Q444*			P49757	NUMB_HUMAN	numb homolog (Drosophila)	455					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		GCCTGGGGCTGCTGAGCCCGG	0.607000													15	39					0	0	0.002450	0	0
EXOC4	60412	broad.mit.edu	37	7	133682292	133682292	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:133682292G>C	ENST00000253861.4	+	15	2283	c.2254G>C	c.(2254-2256)Gtg>Ctg	p.V752L	EXOC4_ENST00000545148.1_Missense_Mutation_p.V362L|EXOC4_ENST00000541309.1_Missense_Mutation_p.V40L|EXOC4_ENST00000539845.1_Missense_Mutation_p.V651L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	752					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCTCCCCCCAGTGTCAGAGCA	0.463000													14	36					0	0	0.001855	0	0
ABCC1	4363	broad.mit.edu	37	16	16184309	16184309	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:16184309C>T	ENST00000399408.2	+	19	2683	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	ABCC1_ENST00000399410.3_Silent_p.D836D|ABCC1_ENST00000351154.5_Silent_p.D777D|ABCC1_ENST00000345148.5_Silent_p.D836D|ABCC1_ENST00000349029.5_Silent_p.D721D|ABCC1_ENST00000346370.5_Silent_p.D780D			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	836	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CGCAGGTGGACGTCATCATCG	0.602000													5	39					0	0	0.000602	0	0
CENPW	387103	broad.mit.edu	37	6	126661543	126661543	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:126661543T>C	ENST00000368328.4	+	1	224	c.124T>C	c.(124-126)Ttg>Ctg	p.L42L	CENPW_ENST00000368325.1_Silent_p.L42L|CENPW_ENST00000368326.1_Silent_p.L42L			Q5EE01	CENPW_HUMAN	centromere protein W	42						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGGTGACTTATTGGTGAGATT	0.512000													16	78					0	0	0.001882	0	0
TCF4	6925	broad.mit.edu	37	18	52896157	52896157	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:52896157C>G	ENST00000354452.3	-	18	2411	c.1800G>C	c.(1798-1800)aaG>aaC	p.K600N	TCF4_ENST00000543082.1_Missense_Mutation_p.K554N|TCF4_ENST00000566286.1_Missense_Mutation_p.K593N|TCF4_ENST00000570177.2_Missense_Mutation_p.K466N|TCF4_ENST00000566279.1_Missense_Mutation_p.K540N|TCF4_ENST00000561831.3_Missense_Mutation_p.K436N|TCF4_ENST00000457482.3_Missense_Mutation_p.K440N|TCF4_ENST00000570287.2_Missense_Mutation_p.K436N|TCF4_ENST00000544241.2_Missense_Mutation_p.K529N|TCF4_ENST00000561992.1_Missense_Mutation_p.K466N|TCF4_ENST00000568673.1_Missense_Mutation_p.K576N|TCF4_ENST00000565018.2_Missense_Mutation_p.K600N|TCF4_ENST00000564228.1_Missense_Mutation_p.K525N|TCF4_ENST00000537856.3_Missense_Mutation_p.K466N|TCF4_ENST00000537578.1_Missense_Mutation_p.K576N|TCF4_ENST00000356073.4_Missense_Mutation_p.K596N|TCF4_ENST00000567880.1_Missense_Mutation_p.K536N|TCF4_ENST00000540999.1_Missense_Mutation_p.K572N|TCF4_ENST00000564403.2_Missense_Mutation_p.K606N|TCF4_ENST00000564999.1_Missense_Mutation_p.K596N|TCF4_ENST00000398339.1_Missense_Mutation_p.K702N|TCF4_ENST00000568740.1_Missense_Mutation_p.K571N	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	596	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GCTTGTCACTCTTGAGGTGGA	0.622000													21	83					0	0	0.001523	0	0
CTDSPL2	51496	broad.mit.edu	37	15	44816367	44816367	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:44816367G>C	ENST00000260327.4	+	13	1959	c.1396G>C	c.(1396-1398)Gat>Cat	p.D466H	CTDSPL2_ENST00000558373.1_Missense_Mutation_p.D394H|CTDSPL2_ENST00000396780.1_Missense_Mutation_p.D394H|CTDSPL2_ENST00000558966.1_Missense_Mutation_p.D466H	NM_016396.2	NP_057480.2	Q05D32	CTSL2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2	466							phosphoprotein phosphatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	13		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)		GCTGCCCCCAGATTAAGTACA	0.383000													3	37					0	0	0.004672	0	0
COL4A2	1284	broad.mit.edu	37	13	111111187	111111187	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr13:111111187C>A	ENST00000360467.5	+	22	1808	c.1502C>A	c.(1501-1503)cCc>cAc	p.P501H	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	501	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGCCAGGACCCAAGGGCTTC	0.637000													13	89					7.93312e-07	9.50016e-07	0.002450	1	0
FCHSD2	9873	broad.mit.edu	37	11	72554523	72554523	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:72554523C>T	ENST00000409314.1	-	16	1738	c.1570G>A	c.(1570-1572)Gaa>Aaa	p.E524K	FCHSD2_ENST00000409418.4_Missense_Mutation_p.E500K|ATG16L2_ENST00000534905.1_3'UTR|FCHSD2_ENST00000409853.1_Missense_Mutation_p.E444K|FCHSD2_ENST00000409263.1_5'UTR|FCHSD2_ENST00000311172.7_Missense_Mutation_p.E444K|FCHSD2_ENST00000458644.2_Missense_Mutation_p.E364K			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	500	SH3 1.						protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			TCTCCATCTTCAATCACTTCT	0.403000													19	98					0	0	0.008871	0	0
DNAJC14	85406	broad.mit.edu	37	12	56221128	56221128	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56221128C>T	ENST00000357606.3	-	3	1604	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	DNAJC14_ENST00000317269.3_Missense_Mutation_p.E439K|DNAJC14_ENST00000317287.5_Missense_Mutation_p.E439K|RP11-762I7.5_ENST00000546837.1_Silent_p.*68*			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	439					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCTCATCCTCAGGAACCCCA	0.527000													12	172					0	0	0.000978	0	0
KYNU	8942	broad.mit.edu	37	2	143643039	143643039	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:143643039G>A	ENST00000264170.4	+	2	361	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KYNU_ENST00000375773.2_Missense_Mutation_p.E35K|KYNU_ENST00000410015.2_Missense_Mutation_p.E35K|KYNU_ENST00000409512.1_Missense_Mutation_p.E35K	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	35					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CCACCTAGATGAGGAAGATAA	0.488000													12	35					0	0	0.001855	0	0
GABRR2	2570	broad.mit.edu	37	6	89978925	89978925	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:89978925T>C	ENST00000402938.3	-	4	450	c.317A>G	c.(316-318)cAt>cGt	p.H106R	GABRR2_ENST00000602399.1_Missense_Mutation_p.H131R			P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	131					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		CTTCCAGTAATGCCGCAGGTA	0.522000													39	113					0	0	0.006230	0	0
ACTA2	59	broad.mit.edu	37	10	90707026	90707026	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:90707026C>T	ENST00000458208.1	-	3	721	c.247G>A	c.(247-249)Gac>Aac	p.D83N	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.D83N|STAMBPL1_ENST00000371927.3_Intron	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	83					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTTCCATGTCGTCCCAGTTG	0.502000													28	141					0	0	0.007291	0	0
COL6A6	131873	broad.mit.edu	37	3	130285812	130285812	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:130285812G>A	ENST00000358511.6	+	4	1580	c.1549G>A	c.(1549-1551)Gca>Aca	p.A517T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A517T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	517	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen		p.A517>?(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AAACACAGGCGCAGCACTGAA	0.448000													27	93					0	0	0.004656	0	0
ABCB6	10058	broad.mit.edu	37	2	220077120	220077120	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:220077120C>G	ENST00000265316.3	-	14	2273	c.1957G>C	c.(1957-1959)Gac>Cac	p.D653H	ABCB6_ENST00000439002.2_Missense_Mutation_p.D607H	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	653	ABC transporter.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGAAATGTCCTGCCCATCT	0.552000													8	54					0	0	0.004482	0	0
RICTOR	253260	broad.mit.edu	37	5	38950723	38950723	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:38950723G>C	ENST00000357387.3	-	31	3257	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C	RICTOR_ENST00000296782.5_Missense_Mutation_p.S1076C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1076					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TATGGGTCCAGATCGGTCATA	0.368000													16	93					0	0	0.004990	0	0
BAGE2	85319	broad.mit.edu	37	21	11039228	11039228	+	RNA	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr21:11039228G>C	ENST00000470054.1	-	0	975									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCTTCTTTGGATACCACTGT	0.413000													5	318					0	0	0.000602	0	0
PCDHGC4	56098	broad.mit.edu	37	5	140865546	140865546	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:140865546C>T	ENST00000306593.1	+	1	806	c.806C>T	c.(805-807)cCg>cTg	p.P269L	PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCAGACCCGGACCTGGGT	0.542000													9	80					0	0	0.004482	0	0
HIST1H3I	8354	broad.mit.edu	37	6	27839968	27839968	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:27839968G>A	ENST00000328488.2	-	1	131	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	42					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGCCGGGGCGGTAGCGGTGGG	0.682000													35	78					0	0	0.002836	0	0
RRP12	23223	broad.mit.edu	37	10	99130758	99130758	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:99130758G>C	ENST00000370992.4	-	21	2535	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L	RRP12_ENST00000315563.6_Silent_p.L708L|RRP12_ENST00000414986.1_Silent_p.L747L|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Silent_p.L526L	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	808						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTGCACGAAGAGGGCCCCGG	0.667000													8	30					0	0	0.003080	0	0
ANO1	55107	broad.mit.edu	37	11	69933944	69933944	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:69933944C>T	ENST00000355303.5	+	2	500	c.195C>T	c.(193-195)atC>atT	p.I65I	ANO1_ENST00000538023.1_Silent_p.I65I|ANO1_ENST00000530676.1_5'UTR|ANO1_ENST00000316296.5_Silent_p.I37I|ANO1_ENST00000398543.2_5'UTR	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	65					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TGGACTACATCCTGGTGTACC	0.617000													6	27					0	0	0.001984	0	0
CPSF6	11052	broad.mit.edu	37	12	69652600	69652600	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:69652600C>T	ENST00000435070.2	+	6	1035	c.925C>T	c.(925-927)Cca>Tca	p.P309S	CPSF6_ENST00000456847.3_Missense_Mutation_p.P236S|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Missense_Mutation_p.P346S	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	309	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCCTCCTGGCCCACCACCTCC	0.632000													20	90					0	0	0.008871	0	0
PDE6C	5146	broad.mit.edu	37	10	95415576	95415576	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:95415576C>T	ENST00000371447.3	+	16	2133	c.1995C>T	c.(1993-1995)ttC>ttT	p.F665F		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	665					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTCATTTGTTCGAGGTCGCAA	0.348000													52	113					0	0	0.003610	0	0
CBX4	8535	broad.mit.edu	37	17	77808470	77808470	+	Missense_Mutation	SNP	G	G	A	rs150413647		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808470G>A	ENST00000269397.4	-	5	1148	c.971C>T	c.(970-972)cCg>cTg	p.P324L		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	324	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	p.P324L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTCTTGGGCGGCGCCTCCAC	0.672000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	54					0	0	0.001168	0	0
MEF2D	4209	broad.mit.edu	37	1	156450662	156450662	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:156450662G>T	ENST00000348159.4	-	4	840	c.360C>A	c.(358-360)gcC>gcA	p.A120A	MEF2D_ENST00000368240.2_Silent_p.A120A|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000360595.3_Silent_p.A120A|MEF2D_ENST00000340875.5_Intron|MEF2D_ENST00000464356.1_Intron	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	120					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTCCTCGCTGGCGCGTCGGT	0.692000											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	55					2.75727e-19	3.40708e-19	0.004878	1	0
TXNDC8	255220	broad.mit.edu	37	9	113096542	113096542	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:113096542G>C	ENST00000374507.4	-	2	133	c.83C>G	c.(82-84)tCt>tGt	p.S28C	TXNDC8_ENST00000374511.3_Missense_Mutation_p.S28C|TXNDC8_ENST00000374510.4_Missense_Mutation_p.S28C|TXNDC8_ENST00000423740.2_Missense_Mutation_p.S28C			Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	28	Thioredoxin.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	Golgi apparatus	electron carrier activity|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCGTTTCGAAGAAAATTGAAC	0.363000													7	30					0	0	0.008291	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25746864	25746864	+	RNA	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:25746864G>A	ENST00000586223.1	+	0	388					NR_033892.1																						AGCACTGATCGCTTTGGGATT	0.537000													9	18					0	0	0.004482	0	0
HDAC10	83933	broad.mit.edu	37	22	50687866	50687866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:50687866C>T	ENST00000216271.5	-	7	933	c.581G>A	c.(580-582)tGg>tAg	p.W194*	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000448072.1_Nonsense_Mutation_p.W194*|HDAC10_ENST00000498366.1_5'UTR|HDAC10_ENST00000349505.4_Nonsense_Mutation_p.W194*	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	194	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATAGCGGTGCCAGGAGAAGTA	0.617000													4	46					0	0	0.000602	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211607	3211607	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3211607G>A	ENST00000380059.3	-	10	1370	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.L380L|SLC4A11_ENST00000380056.3_Silent_p.L396L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	396	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						TCTCGTCATTGAGAGACCCGA	0.627000													11	101					0	0	0.001368	0	0
ZNF285	26974	broad.mit.edu	37	19	44901376	44901376	+	Translation_Start_Site	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:44901376C>T	ENST00000330997.4	-	2	67	c.3G>A	c.(1-3)atG>atA	p.M1I	ZNF285_ENST00000591679.1_Start_Codon_SNP_p.M1I|ZNF285_ENST00000544719.2_Start_Codon_SNP_p.M1I|CTC-512J12.4_ENST00000588655.1_RNA|CTC-512J12.6_ENST00000588212.1_Start_Codon_SNP_p.M1I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GGAACTTAATCATACCGTCTT	0.383000													8	161					0	0	0.006214	0	0
MYH6	4624	broad.mit.edu	37	14	23858093	23858093	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:23858093G>A	ENST00000405093.3	-	29	4220	c.4150C>T	c.(4150-4152)Cgg>Tgg	p.R1384W	MYH6_ENST00000356287.3_Missense_Mutation_p.R1384W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1384					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTCAGTCCGCTGAATGGCG	0.622000													45	88					0	0	0.003214	0	0
FAM135B	51059	broad.mit.edu	37	8	139164784	139164784	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:139164784C>T	ENST00000395297.1	-	13	2104	c.1934G>A	c.(1933-1935)aGt>aAt	p.S645N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	645										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGGTAGAACTTAGTGGATC	0.488000										HNSCC(54;0.14)			14	66					0	0	0.002450	0	0
NLRP2	55655	broad.mit.edu	37	19	55493937	55493937	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:55493937G>C	ENST00000543010.1	+	6	1014	c.871G>C	c.(871-873)Gat>Cat	p.D291H	NLRP2_ENST00000538819.1_Missense_Mutation_p.D267H|NLRP2_ENST00000448584.2_Missense_Mutation_p.D291H|NLRP2_ENST00000537859.1_Missense_Mutation_p.D269H|NLRP2_ENST00000427260.2_Missense_Mutation_p.D268H|NLRP2_ENST00000263437.6_Missense_Mutation_p.D288H|NLRP2_ENST00000391721.4_Missense_Mutation_p.D267H|NLRP2_ENST00000339757.7_Missense_Mutation_p.D269H	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	291	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGACGGCTTTGATGAGCTGGG	0.567000													7	72					0	0	0.003080	0	0
GC	2638	broad.mit.edu	37	4	72623827	72623827	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:72623827C>T	ENST00000273951.8	-	7	1106	c.763G>A	c.(763-765)Gct>Act	p.A255T	GC_ENST00000513476.1_Missense_Mutation_p.A255T|GC_ENST00000504199.1_Missense_Mutation_p.A274T|GC_ENST00000503472.1_5'UTR	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	255	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	ATATCTTCAGCTAGTGGCAAA	0.373000													13	62					0	0	0.001855	0	0
MYO9A	4649	broad.mit.edu	37	15	72190735	72190735	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:72190735C>T	ENST00000356056.5	-	25	4581	c.4109G>A	c.(4108-4110)cGg>cAg	p.R1370Q	MYO9A_ENST00000564571.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000444904.1_Missense_Mutation_p.R1351Q|MYO9A_ENST00000424560.1_Missense_Mutation_p.R1370Q|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.R990Q	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1370	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	p.R1370L(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGCATTGTCCCGTGAATCAAA	0.443000													17	96					0	0	0.004007	0	0
GRM7	2917	broad.mit.edu	37	3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:7188209G>A	ENST00000486284.1	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000357716.4_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H|GRM7_ENST00000402647.2_Missense_Mutation_p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522000													16	57					0	0	0.006122	0	0
TICRR	90381	broad.mit.edu	37	15	90169002	90169002	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90169002G>C	ENST00000268138.7	+	20	5566	c.5461G>C	c.(5461-5463)Gag>Cag	p.E1821Q	TICRR_ENST00000560985.1_Missense_Mutation_p.E1820Q|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		GGGAGACGAAGAGGTGTTTGT	0.478000													22	145					0	0	0.002780	0	0
CABYR	26256	broad.mit.edu	37	18	21723218	21723218	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr18:21723218A>G	ENST00000399496.3	+	2	305	c.140A>G	c.(139-141)tAt>tGt	p.Y47C	CABYR_ENST00000327201.6_Intron|CABYR_ENST00000399481.2_Intron|CABYR_ENST00000399499.1_Missense_Mutation_p.Y47C|CABYR_ENST00000415309.2_Missense_Mutation_p.Y47C|CABYR_ENST00000581397.1_Missense_Mutation_p.Y47C	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	47	RIIa.				ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CTTACTATGTATAGAGGTTTG	0.343000													7	28					0	0	0.001984	0	0
EPHA4	2043	broad.mit.edu	37	2	222347096	222347096	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:222347096C>G	ENST00000281821.2	-	5	1335	c.1294G>C	c.(1294-1296)Gtc>Ctc	p.V432L	EPHA4_ENST00000392071.4_Missense_Mutation_p.V381L|EPHA4_ENST00000409854.1_Missense_Mutation_p.V432L|EPHA4_ENST00000409938.1_Missense_Mutation_p.V432L	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	432	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCACAGTGACAGAAACTGAT	0.378000													14	140					0	0	0.001855	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637859	234637859	+	Silent	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637859A>G	ENST00000482026.1	+	1	106	c.87A>G	c.(85-87)ggA>ggG	p.G29G	UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGAGAGTGGAAAGGTGTTGG	0.632000													7	50					0	0	0.002450	0	0
ASPG	374569	broad.mit.edu	37	14	104571696	104571696	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:104571696C>T	ENST00000551177.1	+	10	1174	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	ASPG_ENST00000546892.2_Missense_Mutation_p.T361M|ASPG_ENST00000549809.1_3'UTR|ASPG_ENST00000455920.2_Missense_Mutation_p.T361M	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	361					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GGGGAGATGACGCCACCCTCG	0.672000													5	43					0	0	0.000602	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102506067	102506067	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr14:102506067G>T	ENST00000360184.4	+	62	11852	c.11688G>T	c.(11686-11688)gtG>gtT	p.V3896V	RP11-1017G21.4_ENST00000557551.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3896					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGGGCACCGTGGGGTAAGAGC	0.502000													15	84					1.05317e-09	1.27697e-09	0.002450	1	0
CASP8	841	broad.mit.edu	37	2	202131421	202131421	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:202131421G>C	ENST00000358485.4	+	2	585	c.389G>C	c.(388-390)aGa>aCa	p.R130T	CASP8_ENST00000264274.9_Missense_Mutation_p.R71T|CASP8_ENST00000323492.7_Missense_Mutation_p.R71T|CASP8_ENST00000264275.5_Missense_Mutation_p.R71T|CASP8_ENST00000432109.2_Missense_Mutation_p.R71T|CASP8_ENST00000392258.3_Missense_Mutation_p.R71T|CASP8_ENST00000392259.2_Missense_Mutation_p.R71T|CASP8_ENST00000392266.3_Missense_Mutation_p.R71T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	71	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CGAATTAATAGACTGGATTTG	0.458000										HNSCC(4;0.00038)			18	37					0	0	0.007413	0	0
ARV1	64801	broad.mit.edu	37	1	231131562	231131562	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131562A>C	ENST00000310256.2	+	4	562	c.505A>C	c.(505-507)Acg>Ccg	p.T169P	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Missense_Mutation_p.T129P	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	169					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		ACGGCCCATGACGGCAAAAAA	0.383000													8	37					0	0	0.003080	0	0
TP53	7157	broad.mit.edu	37	17	7577100	7577100	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7577100T>C	ENST00000420246.2	-	8	970	c.838A>G	c.(838-840)Aga>Gga	p.R280G	TP53_ENST00000359597.4_Missense_Mutation_p.R280G|TP53_ENST00000455263.2_Missense_Mutation_p.R280G|TP53_ENST00000445888.2_Missense_Mutation_p.R280G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; 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.R280G(20)|p.0?(8)|p.R280*(8)|p.?(2)|p.G279fs*65(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*65(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		CGCCGGTCTCTCCCAGGACAG	0.542000		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)			18	13					0	0	0.006122	0	0
ALK	238	broad.mit.edu	37	2	29474101	29474101	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:29474101C>T	ENST00000389048.3	-	12	2980	c.2074G>A	c.(2074-2076)Ggg>Agg	p.G692R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	692					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	CCATGGGGCCCGCTGGCCCCA	0.647000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				4	24					0	0	0.000602	0	0
TICRR	90381	broad.mit.edu	37	15	90168550	90168550	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:90168550C>T	ENST00000268138.7	+	20	5114	c.5009C>T	c.(5008-5010)tCc>tTc	p.S1670F	TICRR_ENST00000560985.1_Missense_Mutation_p.S1669F|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		TGGACACCATCCCCCAAGCAC	0.607000													12	57					0	0	0.002450	0	0
OSBP	5007	broad.mit.edu	37	11	59376031	59376031	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:59376031C>G	ENST00000263847.1	-	3	1227	c.748G>C	c.(748-750)Gag>Cag	p.E250Q		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	250					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TCATTGCTCTCAGCAGGCAAC	0.488000													29	65					0	0	0.005443	0	0
ZNF418	147686	broad.mit.edu	37	19	58438123	58438123	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:58438123G>C	ENST00000396147.1	-	4	1717	c.1426C>G	c.(1426-1428)Cac>Gac	p.H476D	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599852.1_Missense_Mutation_p.H391D|ZNF418_ENST00000425570.3_Missense_Mutation_p.H497D|ZNF418_ENST00000595830.1_Missense_Mutation_p.H476D	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCTCCAGTGTGAACTCTCTGG	0.448000													49	80					0	0	0.003610	0	0
HAP1	9001	broad.mit.edu	37	17	39881315	39881315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:39881315C>A	ENST00000393939.2	-	10	1432	c.1423G>T	c.(1423-1425)Gaa>Taa	p.E475*	JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Nonsense_Mutation_p.E500*|HAP1_ENST00000341193.5_Nonsense_Mutation_p.E483*|HAP1_ENST00000310778.5_Nonsense_Mutation_p.E552*			P54257	HAP1_HUMAN	huntingtin-associated protein 1	528	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GTGAAATCTTCCCCCCGCATG	0.617000													43	297					2.62258e-09	3.16013e-09	0.002522	1	0
OR2A2	442361	broad.mit.edu	37	7	143807496	143807496	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:143807496C>G	ENST00000408979.2	+	1	890	c.821C>G	c.(820-822)tCc>tGc	p.S274C		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S274Y(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAAATGCTGTCCCTGTTTCAC	0.512000													64	153					0	0	0.003610	0	0
MATN2	4147	broad.mit.edu	37	8	99040003	99040003	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:99040003G>A	ENST00000254898.5	+	14	2533	c.2302G>A	c.(2302-2304)Gac>Aac	p.D768N	MATN2_ENST00000520016.1_Missense_Mutation_p.D768N|MATN2_ENST00000522025.2_Missense_Mutation_p.D484N|MATN2_ENST00000524308.1_Missense_Mutation_p.D727N|RPL30_ENST00000518164.1_Intron|MATN2_ENST00000521689.1_Missense_Mutation_p.D768N	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	768	VWFA 2.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGTTCACCGACGGACGGGC	0.562000													9	60					0	0	0.006214	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1993939	1993939	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:1993939A>T	ENST00000382722.5	-	11	1629	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.C339S|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.C423S|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.C359S|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.C423S	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	423	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCACCTTACAGTCTGGCCAG	0.582000													7	20					0	0	0.003080	0	0
PPP2R3B	28227	broad.mit.edu	37	X	295163	295163	+	Missense_Mutation	SNP	G	G	A	rs143642265	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:295163G>A	ENST00000390665.3	-	13	1685	c.1667C>T	c.(1666-1668)cCg>cTg	p.P556L		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	556					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGCCCAGCGGTGAGGGCGC	0.726000													6	42					0	0	0.001984	0	0
ESF1	51575	broad.mit.edu	37	20	13763716	13763716	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:13763716T>G	ENST00000202816.1	-	2	178	c.71A>C	c.(70-72)gAa>gCa	p.E24A		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TTCTGGCATTTCCCAAAATCT	0.398000													14	77					0	0	0.001855	0	0
RNF148	378925	broad.mit.edu	37	7	122342351	122342351	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:122342351C>T	ENST00000434824.1	-	1	670	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|RNF148_ENST00000447240.1_Missense_Mutation_p.A54T	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATCATCACCGCGACTATATTT	0.463000													92	223					0	0	0.003610	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													4	13					0	0	0.000602	0	0
OAF	220323	broad.mit.edu	37	11	120082137	120082137	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:120082137G>A	ENST00000328965.4	+	1	663	c.150G>A	c.(148-150)gcG>gcA	p.A50A	OAF_ENST00000531220.1_5'UTR	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	50										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		GCCTGCAGGCGGACAGCGACG	0.726000													3	13					0	0	0.004672	0	0
DNAH3	55567	broad.mit.edu	37	16	20999081	20999081	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:20999081G>C	ENST00000261383.3	-	46	6815	c.6816C>G	c.(6814-6816)gtC>gtG	p.V2272V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2272	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGGTTAAAGACGTAATGTG	0.483000													8	60					0	0	0.004482	0	0
UGT1A3	54659	broad.mit.edu	37	2	234637866	234637866	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:234637866T>C	ENST00000482026.1	+	1	113	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L	UGT1A6_ENST00000406651.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron	NM_019093.2	NP_061966.1														breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TGGAAAGGTGTTGGTGGTGCC	0.637000													6	55					0	0	0.001855	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	49					0	0	0.001984	0	0
DIAPH2	1730	broad.mit.edu	37	X	96136646	96136646	+	Silent	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:96136646G>C	ENST00000324765.8	+	5	863	c.516G>C	c.(514-516)tcG>tcC	p.S172S	DIAPH2_ENST00000373054.4_Silent_p.S168S|DIAPH2_ENST00000355827.4_Silent_p.S172S|DIAPH2_ENST00000373049.4_Silent_p.S172S|DIAPH2_ENST00000373061.3_Silent_p.S172S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	172	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AATTACGATCGGGTATATCAG	0.383000													15	14					0	0	0.003163	0	0
C12orf56	115749	broad.mit.edu	37	12	64746823	64746823	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:64746823G>A	ENST00000543942.2	-	2	892	c.266C>T	c.(265-267)cCg>cTg	p.P89L	RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.P89L	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	89								p.P89Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CAAAAATTCCGGGTAATCATC	0.343000													6	65					0	0	0.001168	0	0
CDKN2A	1029	broad.mit.edu	37	9	21974703	21974703	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:21974703T>G	ENST00000304494.5	-	1	394	c.124A>C	c.(124-126)Aat>Cat	p.N42H	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000494262.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.N42H|CDKN2A_ENST00000579755.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	42					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(23)|p.N42Y(1)|p.0(1)|p.V28_V51del(1)|p.N42D(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCGTAACTATTCGGTGCGTTG	0.692000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			76	55					0	0	0.003610	0	0
ANKLE2	23141	broad.mit.edu	37	12	133306539	133306539	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:133306539C>G	ENST00000539605.1	-	10	8707	c.2023G>C	c.(2023-2025)Gat>Cat	p.D675H	ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000357997.5_Missense_Mutation_p.D737H|ANKLE2_ENST00000542657.1_Missense_Mutation_p.D92H|ANKLE2_ENST00000542282.1_Missense_Mutation_p.D92H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	737						cytoplasm|integral to membrane|nuclear envelope		p.D737H(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTCAGTTTATCAAACTCAACA	0.473000													9	124					0	0	0.004482	0	0
RILPL2	196383	broad.mit.edu	37	12	123915096	123915096	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:123915096C>T	ENST00000280571.8	-	2	746	c.450G>A	c.(448-450)tcG>tcA	p.S150S		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	150	RILP-like.					cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		CCAGGAGCTGCGACTTGAGTT	0.582000													9	155					0	0	0.006214	0	0
ZNRF3	84133	broad.mit.edu	37	22	29446049	29446049	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:29446049C>G	ENST00000544604.2	+	8	2055	c.1880C>G	c.(1879-1881)tCc>tGc	p.S627C	ZNRF3_ENST00000406323.3_Missense_Mutation_p.S527C|ZNRF3_ENST00000402174.1_Missense_Mutation_p.S527C|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S527C	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	627						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TTCGAGGGCTCCCCGCCTCCC	0.731000													19	40					0	0	0.006122	0	0
GABRA1	2554	broad.mit.edu	37	5	161277887	161277887	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:161277887G>T	ENST00000428797.2	+	3	426	c.71G>T	c.(70-72)aGa>aTa	p.R24I	GABRA1_ENST00000023897.6_Missense_Mutation_p.R24I|GABRA1_ENST00000437025.2_Missense_Mutation_p.R24I|GABRA1_ENST00000444819.1_Missense_Mutation_p.R24I|GABRA1_ENST00000393943.4_Missense_Mutation_p.R24I|GABRA1_ENST00000420560.1_Missense_Mutation_p.R24I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	24					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTGACTGGAAGAAGGTGGGGA	0.413000													14	72					1.37285e-15	1.68566e-15	0.004007	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	by1000genomes	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA														p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607000													4	43					0	0	0.000248	0	0
FRG1BP	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	91					0	0	0.000602	0	0
CLCN7	1186	broad.mit.edu	37	16	1510884	1510884	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:1510884G>A	ENST00000382745.4	-	5	1022	c.417C>T	c.(415-417)ctC>ctT	p.L139L	CLCN7_ENST00000262318.8_Silent_p.L115L|CLCN7_ENST00000448525.1_Silent_p.L115L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	139						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCAGGCCACGAGGCCCGTGA	0.642000													18	50					0	0	0.007413	0	0
ITLN1	55600	broad.mit.edu	37	1	160853237	160853237	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:160853237G>A	ENST00000326245.3	-	3	253	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	46	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TAGGACATTCGTCTTTGATTT	0.423000													21	35					0	0	0.001523	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568266	7568266	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:7568266G>A	ENST00000340209.4	+	2	457	c.160G>A	c.(160-162)Gcg>Acg	p.A54T	RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69T|RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85T|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92T|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69T|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49T|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69T|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92T|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85T			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCCCACCCCGCGCCAGAGTA	0.662000													52	134					0	0	0.003610	0	0
DCHS2	54798	broad.mit.edu	37	4	155158175	155158175	+	Silent	SNP	G	G	A	rs141912971		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:155158175G>A	ENST00000357232.3	-	25	6263	c.6264C>T	c.(6262-6264)aaC>aaT	p.N2088N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2088	Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GGGCATAATTGTTCATATCTT	0.398000													18	67					0	0	0.006122	0	0
OS9	10956	broad.mit.edu	37	12	58113926	58113926	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:58113926C>T	ENST00000315970.7	+	13	1686	c.1645C>T	c.(1645-1647)Cgt>Tgt	p.R549C	OS9_ENST00000389146.6_Missense_Mutation_p.R534C|OS9_ENST00000435406.2_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000413095.2_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000389142.5_Intron|OS9_ENST00000551035.1_Intron|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000439210.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	549					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACCAAGCTCCGTCTCGGAGG	0.572000													29	103					0	0	0.006320	0	0
SHANK1	50944	broad.mit.edu	37	19	51218989	51218989	+	Splice_Site	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:51218989T>A	ENST00000293441.1	-	3	478		c.e3-2		SHANK1_ENST00000391814.1_Splice_Site|SHANK1_ENST00000359082.3_Splice_Site	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTATCGGAACTGAGGTCAAGG	0.532000													58	70					0	0	0.003610	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373513	81373513	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:81373513A>G	ENST00000398636.3	+	6	529	c.391A>G	c.(391-393)Ata>Gta	p.I131V	SFTPA1_ENST00000372308.3_Missense_Mutation_p.I131V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.I72V|SFTPA1_ENST00000419470.2_Missense_Mutation_p.I146V|SFTPA1_ENST00000428376.2_Missense_Mutation_p.I131V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	131					cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GCAGGGCTCCATAATGACAGT	0.572000													24	146					0	0	0.006320	0	0
OR10A6	390093	broad.mit.edu	37	11	7949672	7949672	+	Missense_Mutation	SNP	C	C	T	rs145835770		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:7949672C>T	ENST00000309838.2	-	1	537	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTGGGGTTTCACAAGATATA	0.363000													6	33					0	0	0.003080	0	0
CLDN9	9080	broad.mit.edu	37	16	3063471	3063471	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:3063471C>T	ENST00000445369.2	+	1	1015	c.108C>T	c.(106-108)atC>atT	p.I36I		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	36					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CCGCCTTCATCGGCAACAGCA	0.657000													18	81					0	0	0.007413	0	0
ARV1	64801	broad.mit.edu	37	1	231131561	231131561	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:231131561G>A	ENST00000310256.2	+	4	561	c.504G>A	c.(502-504)atG>atA	p.M168I	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Missense_Mutation_p.M128I	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	168					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		AACGGCCCATGACGGCAAAAA	0.383000													8	37					0	0	0.003080	0	0
GUCY2D	3000	broad.mit.edu	37	17	7916484	7916484	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:7916484C>T	ENST00000254854.4	+	11	2327	c.2177C>T	c.(2176-2178)gCc>gTc	p.A726V		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	726	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGAACGCTGGCCGGCGACGTC	0.657000													4	20					0	0	0.000248	0	0
CSMD3	114788	broad.mit.edu	37	8	113585877	113585877	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113585877C>G	ENST00000297405.5	-	24	4139	c.3895G>C	c.(3895-3897)Gga>Cga	p.G1299R	CSMD3_ENST00000343508.3_Missense_Mutation_p.G1259R|CSMD3_ENST00000455883.2_Missense_Mutation_p.G1195R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G1299R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1299	CUB 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATCTTTTCCATCATAAATC	0.308000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	44					0	0	0.001168	0	0
EP400	57634	broad.mit.edu	37	12	132514446	132514446	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:132514446C>T	ENST00000333577.4	+	29	5799	c.5690C>T	c.(5689-5691)tCa>tTa	p.S1897L	EP400_ENST00000330386.6_Missense_Mutation_p.S1780L|EP400_ENST00000389561.2_Missense_Mutation_p.S1861L|EP400_ENST00000332482.4_Missense_Mutation_p.S1824L|EP400_ENST00000389562.2_Missense_Mutation_p.S1860L			Q96L91	EP400_HUMAN	E1A binding protein p400	1897					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGTTCGACTCAGGTATGCGG	0.647000													9	36					0	0	0.006214	0	0
PPA1	5464	broad.mit.edu	37	10	71974336	71974336	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:71974336C>A	ENST00000373232.2	-	5	403	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	PPA1_ENST00000373230.4_Nonsense_Mutation_p.E102*	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	102					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						CCTGGGTCTTCCCAAGTCTAA	0.363000													10	43					2.17888e-05	2.57745e-05	0.006214	1	0
TTN	7273	broad.mit.edu	37	2	179426874	179426874	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:179426874G>T	ENST00000589042.1	-	326	84209	c.83985C>A	c.(83983-83985)aaC>aaA	p.N27995K	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.N18930K|TTN_ENST00000591111.1_Missense_Mutation_p.N26354K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N19055K|TTN_ENST00000342992.6_Missense_Mutation_p.N25427K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N19122K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26354	Fibronectin type-III 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCTCCAGTTCACAGTAG	0.383000													8	15					5.18039e-06	6.16562e-06	0.003080	1	0
CPAMD8	27151	broad.mit.edu	37	19	17010309	17010309	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:17010309G>A	ENST00000443236.1	-	37	4997	c.4966C>T	c.(4966-4968)Cga>Tga	p.R1656*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1609						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGAGCACTCGGCGTCCAGCC	0.577000													7	48					0	0	0.003080	0	0
CBX4	8535	broad.mit.edu	37	17	77808429	77808429	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:77808429G>A	ENST00000269397.4	-	5	1189	c.1012C>T	c.(1012-1014)Ccg>Tcg	p.P338S		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGGGGCTGCGGATCGCTAACC	0.662000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	39					0	0	0.001168	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100550741	100550741	+	RNA	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:100550741A>G	ENST00000397112.4	-	0	2080					NR_036632.1															large_intestine(1)|lung(3)	4						GGGCCCCTGGAGTGGGCTCAT	0.637000													5	34					0	0	0.000602	0	0
CS	1431	broad.mit.edu	37	12	56677625	56677625	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:56677625C>G	ENST00000548567.1	-	5	490	c.20G>C	c.(19-21)aGa>aCa	p.R7T	CS_ENST00000351328.3_Missense_Mutation_p.R73T|CS_ENST00000542324.2_Missense_Mutation_p.R60T			O75390	CISY_HUMAN	citrate synthase	73					cellular carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	citrate (Si)-synthase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		CTTCATGCCTCTCATGCCACC	0.373000													5	25					0	0	0.000602	0	0
CTSO	1519	broad.mit.edu	37	4	156860670	156860670	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr4:156860670G>A	ENST00000433477.3	-	4	474	c.405C>T	c.(403-405)ttC>ttT	p.F135F		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	135					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCACCACGCTGAAGGCCCAGC	0.433000													15	87					0	0	0.004007	0	0
ILVBL	10994	broad.mit.edu	37	19	15226688	15226688	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:15226688G>A	ENST00000263383.3	-	14	1726	c.1587C>T	c.(1585-1587)atC>atT	p.I529I	ILVBL_ENST00000534378.1_Silent_p.I422I	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	529	Thiamine pyrophosphate binding (By similarity).					integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TATCAAATTCGATGAGGCTGT	0.582000													17	29					0	0	0.008871	0	0
TRANK1	9881	broad.mit.edu	37	3	36872599	36872599	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:36872599T>C	ENST00000301807.6	-	21	8590	c.6693A>G	c.(6691-6693)gaA>gaG	p.E2231E	TRANK1_ENST00000428977.2_Silent_p.E2231E|TRANK1_ENST00000429976.2_Silent_p.E2781E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2781					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCTGGTGGTGTTCTAGATGGA	0.552000													38	65					0	0	0.004878	0	0
EXT1	2131	broad.mit.edu	37	8	119122780	119122780	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:119122780T>C	ENST00000378204.2	-	1	1312	c.506A>G	c.(505-507)cAg>cGg	p.Q169R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	169					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GTGCACATACTGAGGTGACAA	0.488000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				27	177					0	0	0.008361	0	0
VWA2	340706	broad.mit.edu	37	10	116045996	116045996	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:116045996T>C	ENST00000603594.1	+	11	1617	c.1296T>C	c.(1294-1296)cgT>cgC	p.R432R	VWA2_ENST00000392982.3_Silent_p.R432R	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	432	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CGGCAGAGCGTGGCTTCGGGA	0.662000													13	90					0	0	0.001855	0	0
KCNK9	51305	broad.mit.edu	37	8	140630759	140630759	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:140630759G>A	ENST00000520439.1	-	2	930	c.867C>T	c.(865-867)gaC>gaT	p.D289D	KCNK9_ENST00000303015.1_Silent_p.D289D			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	289						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGTCCGGGACGTCCGCCTTGT	0.657000													12	75					0	0	0.002450	0	0
GABRB3	2562	broad.mit.edu	37	15	26825502	26825502	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:26825502G>A	ENST00000541819.2	-	7	916	c.814C>T	c.(814-816)Cac>Tac	p.H272Y	GABRB3_ENST00000545868.1_Missense_Mutation_p.H131Y|GABRB3_ENST00000400188.3_Missense_Mutation_p.H145Y|GABRB3_ENST00000299267.4_Missense_Mutation_p.H216Y|GABRB3_ENST00000311550.5_Missense_Mutation_p.H216Y			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	216					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ACCAGACGGTGCTCCACGATG	0.567000													15	81					0	0	0.003163	0	0
THBS4	7060	broad.mit.edu	37	5	79375854	79375854	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:79375854T>C	ENST00000350881.2	+	20	2828	c.2638T>C	c.(2638-2640)Tcc>Ccc	p.S880P	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.S789P	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	880	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GGACAAGGTGTCCTACCGCTG	0.587000													4	26					0	0	0.000248	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497291	39497291	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:39497291G>A	ENST00000442487.3	+	3	327	c.200G>A	c.(199-201)gGa>gAa	p.G67E	APOBEC3H_ENST00000348946.4_Missense_Mutation_p.G67E|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.G67E|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.G67E	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	67					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AAGTCCATGGGACTGGACGAA	0.542000													24	60					0	0	0.002299	0	0
SPTA1	6708	broad.mit.edu	37	1	158607998	158607998	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:158607998C>A	ENST00000368148.3	-	36	5194	c.5014G>T	c.(5014-5016)Gat>Tat	p.D1672Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D1672Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1672					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D1672H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAGAGCAAATCTTCAGCCAAT	0.418000													15	24					3.41278e-10	4.16402e-10	0.004990	1	0
CSMD3	114788	broad.mit.edu	37	8	113259313	113259313	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:113259313T>A	ENST00000297405.5	-	64	10402	c.10158A>T	c.(10156-10158)caA>caT	p.Q3386H	CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3346H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3217H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3316H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3386	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGTAGACCCTTGGAGAAGGT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			6	38					0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152512971	152512971	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:152512971T>C	ENST00000397345.3	-	49	6393	c.6191A>G	c.(6190-6192)tAc>tGc	p.Y2064C	NEB_ENST00000603639.1_Missense_Mutation_p.Y2064C|NEB_ENST00000604864.1_Missense_Mutation_p.Y2064C|NEB_ENST00000427231.2_Missense_Mutation_p.Y2064C|NEB_ENST00000409198.1_Missense_Mutation_p.Y2064C|NEB_ENST00000172853.10_Missense_Mutation_p.Y2064C	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2064					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTACTTGTATTTATACTG	0.333000													27	60					0	0	0.006320	0	0
ERMARD	55780	broad.mit.edu	37	6	170155405	170155405	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:170155405G>A	ENST00000366773.3	+	3	235	c.202G>A	c.(202-204)Gtg>Atg	p.V68M	C6orf70_ENST00000588451.1_5'UTR|C6orf70_ENST00000392095.4_5'UTR|C6orf70_ENST00000366772.2_Missense_Mutation_p.V68M|C6orf70_ENST00000418781.3_Missense_Mutation_p.V68M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	CF070_HUMAN		68						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTGGGGAAGCGTGAGGCTGCT	0.443000													16	132					0	0	0.004990	0	0
SRP68	6730	broad.mit.edu	37	17	74060213	74060213	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:74060213C>G	ENST00000307877.2	-	4	566	c.405G>C	c.(403-405)tgG>tgC	p.W135C	SRP68_ENST00000539137.1_Missense_Mutation_p.W97C|SRP68_ENST00000355113.5_Missense_Mutation_p.W34C	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	135					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TGGCGTAGCTCCAGGCTCTTT	0.493000													16	130					0	0	0.003163	0	0
ITGA2	3673	broad.mit.edu	37	5	52366018	52366018	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:52366018T>C	ENST00000296585.5	+	17	2306	c.2163T>C	c.(2161-2163)aaT>aaC	p.N721N		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	721					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AAGAAAACAATGAAAGGTGCC	0.383000													3	83					0	0	0.004672	0	0
OR51I2	390064	broad.mit.edu	37	11	5475596	5475596	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:5475596G>C	ENST00000341449.2	+	1	959	c.878G>C	c.(877-879)aGc>aCc	p.S293T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATTTATAGCGCCAAGACA	0.443000													8	151					0	0	0.006214	0	0
MAST3	23031	broad.mit.edu	37	19	18232697	18232697	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr19:18232697G>A	ENST00000262811.5	+	4	198	c.198G>A	c.(196-198)tcG>tcA	p.S66S		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	66							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGAATTTCTCGGCTGCCTCTG	0.642000													12	40					0	0	0.001368	0	0
MS4A5	64232	broad.mit.edu	37	11	60197290	60197290	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:60197290A>T	ENST00000300190.2	+	1	229	c.143A>T	c.(142-144)aAa>aTa	p.K48I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	48						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						AGAAAAATGAAAATCTTAGGG	0.418000													4	73					0	0	0.000248	0	0
ETV1	2115	broad.mit.edu	37	7	13950933	13950933	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:13950933C>G	ENST00000343495.5	-	9	1487		c.e9-1		ETV1_ENST00000476720.2_Splice_Site|ETV1_ENST00000405358.4_Splice_Site|ETV1_ENST00000430479.1_Splice_Site|ETV1_ENST00000403527.1_Splice_Site|ETV1_ENST00000399357.3_Splice_Site|ETV1_ENST00000403685.1_Splice_Site|ETV1_ENST00000242066.5_Splice_Site|ETV1_ENST00000420159.2_Splice_Site|ETV1_ENST00000405218.2_Splice_Site|ETV1_ENST00000405192.2_Intron			P50549	ETV1_HUMAN	ets variant 1						transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						CTAGGCACTTCTGAAAGAGGA	0.463000			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""								7	26					0	0	0.001984	0	0
HTR1A	3350	broad.mit.edu	37	5	63257091	63257091	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:63257091G>A	ENST00000323865.3	-	1	689	c.456C>T	c.(454-456)cgC>cgT	p.R152R	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	152				RAA -> PR (in Ref. 1; AAA36440/CAA31908).	behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.R152R(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGCAGCGGCGCGCCGGGGCG	0.652000													22	84					0	0	0.002780	0	0
AIFM1	9131	broad.mit.edu	37	X	129281541	129281541	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chrX:129281541C>G	ENST00000287295.3	-	5	762	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q	AIFM1_ENST00000319908.3_Missense_Mutation_p.E174Q|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.E91Q	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	178	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AACCACAGTTCTTTTGAAAGA	0.413000													20	51					0	0	0.007413	0	0
CAMK2A	815	broad.mit.edu	37	5	149636340	149636340	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr5:149636340C>T	ENST00000348628.6	-	5	992	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CAMK2A_ENST00000398376.3_Silent_p.E109E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	109	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCATCCGCCTCACTGTAAT	0.602000													16	34					0	0	0.004007	0	0
HELZ2	85441	broad.mit.edu	37	20	62198219	62198219	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:62198219C>G	ENST00000467148.1	-	6	2561	c.2492G>C	c.(2491-2493)tGt>tCt	p.C831S	HELZ2_ENST00000427522.2_Missense_Mutation_p.C262S	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGAAACGACACAGATGCACCT	0.692000													10	68					0	0	0.008291	0	0
SORCS3	22986	broad.mit.edu	37	10	106960922	106960922	+	Silent	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:106960922T>A	ENST00000369701.3	+	16	2399	c.2172T>A	c.(2170-2172)cgT>cgA	p.R724R	SORCS3_ENST00000369699.4_Silent_p.R10R	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	724						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCAAGAAACGTAAGCCAGGAG	0.468000													10	71					0	0	0.008291	0	0
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													4	141					0	0	0.000602	0	0
SF3B5	83443	broad.mit.edu	37	6	144416375	144416375	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:144416375C>G	ENST00000367569.2	-	1	379	c.260G>C	c.(259-261)tGa>tCa	p.*87S		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	0					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GGCAGAGTCTCAGTTCTCCTC	0.567000													21	133					0	0	0.003954	0	0
SLC11A2	4891	broad.mit.edu	37	12	51382165	51382165	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:51382165C>T	ENST00000262051.7	-	16	1716	c.1629_splice	c.e16+1	p.T543_splice	SLC11A2_ENST00000541174.2_Silent_p.T543T|SLC11A2_ENST00000547198.1_Splice_Site_p.T543_splice|SLC11A2_ENST00000394904.3_Silent_p.T572T|SLC11A2_ENST00000262052.5_Silent_p.T543T|SLC11A2_ENST00000547688.1_Silent_p.T572T|SLC11A2_ENST00000546743.1_Silent_p.T464T|SLC11A2_ENST00000545993.2_Silent_p.T539T	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	543					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AGATGCTTACCGTATGCCCAC	0.493000													5	75					0	0	0.000602	0	0
AHNAK	79026	broad.mit.edu	37	11	62286423	62286423	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:62286423C>G	ENST00000378024.4	-	5	15740	c.15466G>C	c.(15466-15468)Gag>Cag	p.E5156Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5156					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCACCCTCTATTTTTGGC	0.507000													11	68					0	0	0.000978	0	0
RNF103	7844	broad.mit.edu	37	2	86832193	86832193	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:86832193C>G	ENST00000237455.4	-	4	1799	c.831G>C	c.(829-831)atG>atC	p.M277I	AC015971.2_ENST00000597638.1_RNA|RNF103_ENST00000477307.1_5'UTR|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	277					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAATATCTGTCATATAACTCT	0.363000													5	30					0	0	0.000602	0	0
MST1L	11223	broad.mit.edu	37	1	17084510	17084510	+	RNA	SNP	G	G	A	rs61769731	by1000genomes	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:17084510G>A	ENST00000455405.2	-	0	379																		p.L525L(2)|p.L530L(2)									ACCCGCTGTAGGCCTGGCTCT	0.577000													4	71					0	0	0.000248	0	0
MYH7B	57644	broad.mit.edu	37	20	33582110	33582110	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:33582110C>T	ENST00000262873.7	+	25	2824	c.2732C>T	c.(2731-2733)gCg>gTg	p.A911V		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	869						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TTGCGAGGGGCGCTGGCTGCG	0.662000													12	186					0	0	0.000978	0	0
CNGA4	1262	broad.mit.edu	37	11	6261383	6261383	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:6261383C>T	ENST00000379936.2	+	4	474	c.359C>T	c.(358-360)gCt>gTt	p.A120V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	120					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGACCTGGCTTCCCTGATG	0.627000													56	141					0	0	0.003610	0	0
CENPB	1059	broad.mit.edu	37	20	3766629	3766629	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:3766629T>C	ENST00000379751.4	-	1	708	c.502A>G	c.(502-504)Agc>Ggc	p.S168G		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	168					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						CCAGTAGTGCTCCCGCCACTG	0.756000													2	4					0	0	0.000248	0	0
FAM26D	221301	broad.mit.edu	37	6	116879126	116879126	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr6:116879126G>C	ENST00000368596.3	+	2	741	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	FAM26D_ENST00000416171.2_Missense_Mutation_p.E89Q|FAM26D_ENST00000368597.2_Missense_Mutation_p.E47Q|FAM26D_ENST00000405399.1_Missense_Mutation_p.E90Q			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	233						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		AGAACTCTTTGAACAAGCAGC	0.517000													22	86					0	0	0.001882	0	0
SULF2	55959	broad.mit.edu	37	20	46386015	46386015	+	Silent	SNP	C	C	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:46386015C>G	ENST00000359930.4	-	2	944	c.93G>C	c.(91-93)ctG>ctC	p.L31L	SULF2_ENST00000484875.1_Silent_p.L31L|SULF2_ENST00000467815.1_Silent_p.L31L|SULF2_ENST00000361612.4_Silent_p.L31L	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	31					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ACCTGCCTTTCAGGCGGTGGT	0.627000													9	10					0	0	0.004482	0	0
PRRX1	5396	broad.mit.edu	37	1	170695426	170695426	+	Silent	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:170695426C>T	ENST00000239461.6	+	3	796	c.483C>T	c.(481-483)aaC>aaT	p.N161N	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000497230.2_Silent_p.N161N|PRRX1_ENST00000367760.3_Silent_p.N161N	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	161						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCAATAAAAACGCTTCCCTCC	0.537000													16	27					0	0	0.004990	0	0
ANK1	286	broad.mit.edu	37	8	41581097	41581097	+	Silent	SNP	G	G	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:41581097G>T	ENST00000396942.1	-	8	849	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	ANK1_ENST00000347528.4_Silent_p.R256R|ANK1_ENST00000396945.1_Silent_p.R256R|ANK1_ENST00000352337.4_Silent_p.R256R|ANK1_ENST00000289734.7_Silent_p.R256R|ANK1_ENST00000265709.8_Silent_p.R289R|ANK1_ENST00000379758.2_Silent_p.R256R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	256	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AGCAGCAGCCGCACCATGATC	0.647000													24	65					5.49717e-05	6.46334e-05	0.003330	1	0
NCAPG2	54892	broad.mit.edu	37	7	158476042	158476042	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:158476042G>A	ENST00000409339.3	-	9	987	c.874C>T	c.(874-876)Cac>Tac	p.H292Y	NCAPG2_ENST00000449727.2_Missense_Mutation_p.H292Y|NCAPG2_ENST00000275830.10_Missense_Mutation_p.H84Y|NCAPG2_ENST00000409423.1_Missense_Mutation_p.H292Y|NCAPG2_ENST00000356309.3_Missense_Mutation_p.H292Y			Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	292					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGTATCCCGTGGAACATGAAG	0.438000													18	117					0	0	0.008871	0	0
LTBR	4055	broad.mit.edu	37	12	6494414	6494414	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:6494414C>T	ENST00000228918.4	+	4	667	c.341C>T	c.(340-342)gCc>gTc	p.A114V	LTBR_ENST00000543190.1_Missense_Mutation_p.A7V|LTBR_ENST00000541102.1_Missense_Mutation_p.A7V|LTBR_ENST00000539925.1_Missense_Mutation_p.A95V	NM_002342.1	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	114					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GAGGAGATTGCCCCCTGCACA	0.657000													4	98					0	0	0.001168	0	0
GDPD1	284161	broad.mit.edu	37	17	57350187	57350187	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:57350187G>A	ENST00000284116.4	+	9	949	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	GDPD1_ENST00000581276.1_Missense_Mutation_p.R271Q|GDPD1_ENST00000581140.1_Intron	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	271	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CTAACTGCTCGAGGCATTCAA	0.353000													46	61					0	0	0.003610	0	0
XRCC2	7516	broad.mit.edu	37	7	152346214	152346214	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr7:152346214T>A	ENST00000359321.1	-	3	441	c.356A>T	c.(355-357)tAc>tTc	p.Y119F	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	119					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACTACTGCAGTACACCAAAAA	0.398000								Homologous recombination					5	53					0	0	0.001168	0	0
KIF21B	23046	broad.mit.edu	37	1	200959778	200959778	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:200959778G>A	ENST00000332129.2	-	19	3077	c.2761C>T	c.(2761-2763)Cga>Tga	p.R921*	KIF21B_ENST00000461742.2_Nonsense_Mutation_p.R921*|KIF21B_ENST00000360529.5_Nonsense_Mutation_p.R921*|KIF21B_ENST00000422435.2_Nonsense_Mutation_p.R921*	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	921					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R921*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ATGATCCGTCGCTCCAGGGAC	0.562000													6	41					0	0	0.001984	0	0
FAM181B	220382	broad.mit.edu	37	11	82444469	82444469	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:82444469G>C	ENST00000329203.3	-	1	437	c.303C>G	c.(301-303)atC>atG	p.I101M		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	101										large_intestine(1)|lung(2)|prostate(1)	4						TGCAGCGCTTGATCTGCTTCT	0.701000													4	10					0	0	0.000248	0	0
SPN	6693	broad.mit.edu	37	16	29675887	29675887	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr16:29675887C>T	ENST00000360121.3	+	2	930	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	SPN_ENST00000395389.2_Missense_Mutation_p.R280W|AC009133.19_ENST00000449759.1_Intron	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	280					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						GTGGCGCCGGCGGCAGAAGCG	0.687000													6	27					0	0	0.001168	0	0
CGN	57530	broad.mit.edu	37	1	151491340	151491340	+	Silent	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:151491340G>A	ENST00000271636.7	+	2	478	c.345G>A	c.(343-345)tcG>tcA	p.S115S		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	109	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCCCCCTCGCAGAGCAGCA	0.602000													6	16					0	0	0.001168	0	0
PRG4	10216	broad.mit.edu	37	1	186276240	186276240	+	Silent	SNP	T	T	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:186276240T>C	ENST00000445192.2	+	7	1434	c.1389T>C	c.(1387-1389)acT>acC	p.T463T	PRG4_ENST00000367485.4_Silent_p.T370T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T420T|PRG4_ENST00000367483.4_Silent_p.T422T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	463	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T463T(3)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.657000													4	71					0	0	0.000248	0	0
FAT3	120114	broad.mit.edu	37	11	92085885	92085885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:92085885C>T	ENST00000298047.6	+	1	624	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	FAT3_ENST00000409404.2_Missense_Mutation_p.L203F|FAT3_ENST00000525166.1_Missense_Mutation_p.L53F|FAT3_ENST00000541502.1_Missense_Mutation_p.L203F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	203	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAAAGTTGATCTCTTTTCAGT	0.408000										TCGA Ovarian(4;0.039)			14	76					0	0	0.002450	0	0
DNAJC1	64215	broad.mit.edu	37	10	22209789	22209789	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr10:22209789A>G	ENST00000376980.3	-	4	765	c.475T>C	c.(475-477)Ttc>Ctc	p.F159L	DNAJC1_ENST00000376946.1_3'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	159					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGAATAATGAACAAGAGTAAT	0.408000													3	85					0	0	0.004672	0	0
GGT5	2687	broad.mit.edu	37	22	24621019	24621019	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr22:24621019G>A	ENST00000327365.4	-	11	1975	c.1559C>T	c.(1558-1560)cCc>cTc	p.P520L	GGT5_ENST00000398292.3_Missense_Mutation_p.P521L|GGT5_ENST00000263112.7_Missense_Mutation_p.P488L|GGT5_ENST00000418439.2_Missense_Mutation_p.P444L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	520					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ATGCAGGATGGGGGCTGCAAT	0.612000													3	8					0	0	0.004672	0	0
BCAS3	54828	broad.mit.edu	37	17	59112065	59112065	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr17:59112065C>T	ENST00000589222.1	+	17	1744	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	BCAS3_ENST00000408905.3_Missense_Mutation_p.S559L|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000585744.1_Missense_Mutation_p.S345L|BCAS3_ENST00000588874.1_Missense_Mutation_p.S330L|BCAS3_ENST00000390652.5_Missense_Mutation_p.S574L|BCAS3_ENST00000407086.3_Missense_Mutation_p.S559L|BCAS3_ENST00000588462.1_Missense_Mutation_p.S574L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	574						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CCCAGCAAATCGATGGGCGGA	0.348000													16	55					0	0	0.006122	0	0
ENPP2	5168	broad.mit.edu	37	8	120629779	120629779	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr8:120629779G>C	ENST00000427067.2	-	6	672	c.492C>G	c.(490-492)atC>atG	p.I164M	ENPP2_ENST00000522826.1_Missense_Mutation_p.I168M|ENPP2_ENST00000075322.6_Missense_Mutation_p.I168M|ENPP2_ENST00000259486.6_Missense_Mutation_p.I168M			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	168					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CCACGGAGAAGATGATTAATG	0.373000													8	18					0	0	0.006214	0	0
LRP2	4036	broad.mit.edu	37	2	170009349	170009349	+	Missense_Mutation	SNP	C	C	A	rs150382715	byFrequency	TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr2:170009349C>A	ENST00000263816.3	-	67	12706	c.12421G>T	c.(12421-12423)Gta>Tta	p.V4141L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4141					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCTGCATTACGTATTTCAGT	0.468000													62	185					1.41401e-22	1.75845e-22	0.003610	1	0
ARHGAP32	9743	broad.mit.edu	37	11	128839602	128839602	+	Missense_Mutation	SNP	C	C	T	rs138669502		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:128839602C>T	ENST00000310343.9	-	22	5463	c.5464G>A	c.(5464-5466)Gag>Aag	p.E1822K	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E1473K|ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E1473K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1822	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TCCTCTCCCTCGGGACTGATG	0.577000													17	69					0	0	0.004990	0	0
RERE	473	broad.mit.edu	37	1	8421141	8421142	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr1:8421141_8421142insG	ENST00000337907.3	-	19	3059_3060	c.2425_2426insC	c.(2425-2427)gcgfs	p.A809fs	RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Frame_Shift_Ins_p.A541fs|RERE_ENST00000476556.1_Frame_Shift_Ins_p.A255fs|RERE_ENST00000400908.2_Frame_Shift_Ins_p.A809fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	809	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		gggCGGCCGCTGGGGGTGCAAG	0.718													2	4	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													3	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139412593	139412594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr9:139412593_139412594insGA	ENST00000277541.6	-	7	1325_1326	c.1250_1251insTC	c.(1249-1251)tctfs	p.S417fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	417	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCTACCCAGCGAGCACTCATC	0.663			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	7	---	---	---	---					
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)del	p.RS1367del	ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.660													4	3	---	---	---	---					
RP11-377D9.3	0	broad.mit.edu	37	12	13174142	13174147	+	RNA	DEL	AACAAC	AACAAC	-	rs113537246		TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr12:13174142_13174147delAACAAC	ENST00000543321.1	+	0	1025																											ctgtctcaaaaacaacaacaacaaca	0.553													9	9	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900331	+	RNA	DEL	A	A	-			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr15:28900331delA	ENST00000528584.1	+	0	14					NR_036443.1																						actctgtctcaaaaaaaaaaa	0.413													3	4	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-CQ-6220-01A-11D-1912-08	TCGA-CQ-6220-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e67eda-16a4-4dfd-94a9-546c76d94a02	7a2a9850-af1f-4b45-a5da-5d1952c42558	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---