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
MT-CYB	4519	broad.mit.edu	37	MT	15633	15633	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrM:15633T>C	ENST00000361789.2	+	1	887	c.887T>C	c.(886-888)cTa>cCa	p.296_296insP						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						TGCCCTATTACTATCCATCCT	0.448000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	33	42					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3002560	3002560	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:3002560T>A	ENST00000381127.1	+	6	904	c.683T>A	c.(682-684)cTc>cAc	p.L228H	ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	228						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		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)				TTTATTTTCCTCTTGGGCTAT	0.547000													9	90					0	0	1	0	0
GMDS	2762	broad.mit.edu	37	6	2117711	2117711	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:2117711A>G	ENST00000380815.4	-	3	496	c.227T>C	c.(226-228)aTt>aCt	p.I76T	GMDS_ENST00000530927.1_Missense_Mutation_p.I46T	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	76					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		ACTTCCTTCAATGTGAGCCTG	0.373000													6	68					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858724	149858724	+	Missense_Mutation	SNP	C	C	T	rs142055068		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:149858724C>T	ENST00000331380.2	+	1	200	c.200C>T	c.(199-201)gCg>gTg	p.A67V		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	67					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CTGGAGCTGGCGGGCAACGCG	0.657000													4	61					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													4	164					0	0	1	0	0
RP11-1166P10.6	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552000													3	88					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125316381	125316381	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:125316381C>A	ENST00000373688.2	+	1	991	c.933C>A	c.(931-933)aaC>aaA	p.N311K		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGAGGAACAGAGACATGA	0.403000													4	54					0.00909568	0.00931224	1	1	0
IGHV3OR15-7	0	broad.mit.edu	37	15	20193165	20193165	+	RNA	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:20193165C>A	ENST00000558565.2	-	0	102																											CTCAGAGAACCCCCAGGCTGG	0.572000													8	72					7.48243e-07	8.6958e-07	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189068456	189068456	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:189068456C>A	ENST00000332517.3	+	6	1477	c.1337C>A	c.(1336-1338)tCc>tAc	p.S446Y	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	446	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTATCTTTTCCCCCTGCCTC	0.562000													9	94					0.000978159	0.00102587	1	1	0
MYO15A	51168	broad.mit.edu	37	17	18022790	18022790	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:18022790C>T	ENST00000205890.5	+	2	1014	c.676C>T	c.(676-678)Ctt>Ttt	p.L226F		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	226	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGTACGGGCTTGAGGGCTT	0.642000													5	65					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													3	46					0	0	1	0	0
ZNF543	125919	broad.mit.edu	37	19	57835056	57835056	+	Missense_Mutation	SNP	G	G	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:57835056G>T	ENST00000321545.4	+	2	370	c.25G>T	c.(25-27)Gtg>Ttg	p.V9L		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CCAGGTGTCTGTGACCTTTGA	0.488000													4	154					1.23904e-05	1.36612e-05	1	1	0
ATRX	546	broad.mit.edu	37	X	76939853	76939853	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:76939853T>C	ENST00000373344.5	-	9	1109	c.895A>G	c.(895-897)Aaa>Gaa	p.K299E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K261E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	299					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGTCAACTTTTATCTTCTTC	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						6	59					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45545719	45545719	+	Splice_Site	SNP	G	G	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:45545719G>C	ENST00000347644.3	+	3	235		c.e3+1		CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		CTTACCAGAGGTACTGGTGTT	0.522000													3	17					0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14199324	14199324	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:14199324G>A	ENST00000533683.2	-	5	1491	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	508						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GGCCCGAGGCGGATGGACAGG	0.577000													3	35					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	C	T	rs410211		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:23544783C>T	ENST00000300619.7	-	4	1203	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000													6	95					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													5	125					0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45812903	45812903	+	Missense_Mutation	SNP	C	C	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:45812903C>A	ENST00000358525.4	-	6	856	c.741G>T	c.(739-741)caG>caT	p.Q247H	SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	247					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGAAGAAGATCTGGGTGGCTG	0.587000													4	62					0.00024832	0.000266944	1	1	0
FAM83H	286077	broad.mit.edu	37	8	144811136	144811136	+	Splice_Site	SNP	C	C	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:144811136C>T	ENST00000388913.3	-	4	863		c.e4+1			NM_198488.3	NP_940890.3	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H						biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CGCGGGCGCACCTGTAGCTCC	0.657000													4	147					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21924655	21924655	+	Silent	SNP	T	T	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr8:21924655T>G	ENST00000358242.3	+	3	571	c.78T>G	c.(76-78)tcT>tcG	p.S26S	DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000523266.1_Silent_p.S26S|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000381470.3_Silent_p.S26S|DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000443491.2_Intron					dematin actin binding protein																		TGCCTGGCTCTCCCTCCAGCA	0.697000													3	89					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													5	117					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	87					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93303788	93303788	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr14:93303788A>G	ENST00000163416.2	+	12	2365	c.2109A>G	c.(2107-2109)atA>atG	p.I703M	GOLGA5_ENST00000355976.2_Intron	NM_005113.2	NP_005104.2	Q8TBA6	GOGA5_HUMAN	golgin A5	703					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTGTAATTATATATATGGTAA	0.353000			T	RET	papillary thyroid								11	155					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13042296	13042296	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:13042296A>G	ENST00000506447.1	+	15	2110	c.2030A>G	c.(2029-2031)aAt>aGt	p.N677S	CEP192_ENST00000430049.2_Missense_Mutation_p.N202S|CEP192_ENST00000325971.8_Missense_Mutation_p.N81S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	272										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTGGATGAAAATGATGTGACG	0.403000													5	67					0	0	1	0	0
TDO2	6999	broad.mit.edu	37	4	156828925	156828925	+	Missense_Mutation	SNP	A	A	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr4:156828925A>C	ENST00000536354.2	+	4	348	c.284A>C	c.(283-285)gAg>gCg	p.E95A		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	95					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	TCTGTTCGAGAGATCTTTCAG	0.338000													3	73					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38976750	38976750	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:38976750G>A	ENST00000355481.4	+	34	5586	c.5455G>A	c.(5455-5457)Gtg>Atg	p.V1819M	RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1819	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGGAGGCGGTGCGCGACGG	0.706000													4	123					0	0	1	0	0
MT-CO2	4513	broad.mit.edu	37	MT	7847	7847	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chrM:7847G>A	ENST00000361739.1	+	1	262	c.262G>A	c.(262-264)Gac>Aac	p.D88N						mitochondrially encoded cytochrome c oxidase II											endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						TTTACATAACAGACGAGGTCA	0.502000													6	109					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55798597	55798597	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr19:55798597G>A	ENST00000309383.1	+	3	524	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	83	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCGGGAGATCGCCATCCTGAA	0.607000													4	168					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57938657	57938657	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:57938657A>G	ENST00000564448.1	-	26	2657	c.2597T>C	c.(2596-2598)tTc>tCc	p.F866S	CNGB1_ENST00000251102.8_Missense_Mutation_p.F872S			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	872					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CATCACAGAGAAAGCAAAGAC	0.567000													7	158					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				44	37					0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29588854	29588854	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:29588854A>G	ENST00000358273.4	+	35	5086	c.4703A>G	c.(4702-4704)aAg>aGg	p.K1568R	NF1_ENST00000356175.3_Missense_Mutation_p.K1547R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1568					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACCAGTTCAAAGTTTGAGGAA	0.428000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	55					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078419	170078419	+	Silent	SNP	G	G	T			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:170078419G>T	ENST00000458537.3	+	1	1009	c.300G>T	c.(298-300)tcG>tcT	p.S100S	SKIL_ENST00000426052.2_Silent_p.S80S|SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000259119.4_Silent_p.S100S	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	100					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GTCAGAGCTCGCTGGGTGGAC	0.463000													4	167					0.150653	0.150653	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231664	7231664	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:7231664G>A	ENST00000383467.2	+	1	542	c.528G>A	c.(526-528)gcG>gcA	p.A176A		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	176								p.A176A(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACTTCTTCGCGCACATCCCCA	0.552000													8	133					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728844	167728844	+	Silent	SNP	G	G	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr6:167728844G>A	ENST00000230256.3	+	8	1453	c.1278G>A	c.(1276-1278)ggG>ggA	p.G426G	UNC93A_ENST00000366829.2_Silent_p.G384G	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	426						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCGTATGGGCTTGTGGAGT	0.542000													14	304					0	0	1	0	0
KIF27	55582	broad.mit.edu	37	9	86474101	86474101	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr9:86474101T>A	ENST00000297814.2	-	14	3263	c.3120A>T	c.(3118-3120)aaA>aaT	p.K1040N	RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1040					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CATTTTTAAGTTTTTCATCCA	0.398000													4	71					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10258686	10258686	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr3:10258686A>G	ENST00000256458.4	+	7	947	c.857A>G	c.(856-858)tAc>tGc	p.Y286C		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	286	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						AGCTTCATCTACCCCTACATG	0.567000													4	141					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965379	22965379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:22965379delC	ENST00000374642.3	+	3	421	c.217delC	c.(217-219)ctfs	p.P73fs	C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	73	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAGGGGGAACCTGGGCCCTC	0.647													2	4	---	---	---	---					
RPTN	126638	broad.mit.edu	37	1	152128169	152128172	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr1:152128169_152128172delTGTC	ENST00000316073.3	-	3	1467_1470	c.1403_1406delGACA	c.(1402-1407)aafs	p.RQ468fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	468	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.500													8	1346	---	---	---	---					
ALMS1P	0	broad.mit.edu	37	2	73911485	73911486	+	RNA	INS	-	-	TCC			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr2:73911485_73911486insTCC	ENST00000450720.1	+	0	985					NR_003683.2																						CCAGCTTCTGGtcctcctcctc	0.525													3	3	---	---	---	---					
FZD10	11211	broad.mit.edu	37	12	130647501	130647502	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr12:130647501_130647502insC	ENST00000229030.4	+	1	498_499	c.14_15insC	c.(13-15)gccfs	p.A5fs	FZD10_ENST00000539839.1_5'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	5					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CAGCGCCCGGGCCCCCGCCTGT	0.743													3	6	---	---	---	---					
RP11-420N3.2	0	broad.mit.edu	37	16	6033866	6033868	+	RNA	DEL	TCC	TCC	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr16:6033866_6033868delTCC	ENST00000569895.1	+	0	436																											cttccttctttcctcctcctcct	0.586													4	7	---	---	---	---					
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr17:71281585_71281587delTCC	ENST00000335793.3	-	2	1447_1449	c.1053_1055delGGA	c.(1051-1056)gat>ga	p.ED351del	CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del|CDC42EP4_ENST00000581014.1_3'UTR			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	351					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.640													7	220	---	---	---	---					
RP11-157P23.2	0	broad.mit.edu	37	18	45082567	45082568	+	RNA	INS	-	-	C	rs113242872		TCGA-EL-A3GV-01A-11D-A21A-08	TCGA-EL-A3GV-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0607b9ab-6780-4f97-8f16-01db4da45f1b	5ca70273-84f4-4fa2-ba3a-8aca89e0fe63	g.chr18:45082567_45082568insC	ENST00000565127.1	+	0	515																											CCAGCATGAGGCCCCCCCCAAT	0.569													2	4	---	---	---	---					
