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
C7orf10	79783	broad.mit.edu	37	7	40220558	40220558	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr7:40220558T>C	ENST00000309930.5	+	2	158	c.134T>C	c.(133-135)aTa>aCa	p.I45T	C7orf10_ENST00000401647.2_Missense_Mutation_p.I45T|C7orf10_ENST00000540834.1_Missense_Mutation_p.I38T|C7orf10_ENST00000335693.4_Missense_Mutation_p.I45T	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	45							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ATGAACAATATAAAGCCATTG	0.308000													17	151					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37229705	37229705	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:37229705A>C	ENST00000233099.5	-	32	5156	c.5061T>G	c.(5059-5061)gaT>gaG	p.D1687E	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1687							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CTTTTTCCATATCATCTTCAT	0.378000													5	40					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89351708	89351708	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr16:89351708C>G	ENST00000301030.4	-	9	1702	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E414D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	414						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CACTCGCGTCCTCCTCGTCCG	0.493000													6	79					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733688	56733688	+	Silent	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr19:56733688C>A	ENST00000587340.1	-	7	1442	c.747G>T	c.(745-747)ctG>ctT	p.L249L	ZSCAN5A_ENST00000391713.1_Silent_p.L249L|ZSCAN5A_ENST00000254165.3_Silent_p.L132L|ZSCAN5A_ENST00000587492.1_Silent_p.L103L|ZSCAN5A_ENST00000592355.1_Silent_p.L248L			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	249					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTGCTCTCACCAGATCTGCTG	0.473000													9	106					0.000673444	0.000761285	1	1	0
CDH6	1004	broad.mit.edu	37	5	31302285	31302285	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr5:31302285C>A	ENST00000265071.2	+	6	1144	c.879C>A	c.(877-879)agC>agA	p.S293R	CDH6_ENST00000514738.1_Missense_Mutation_p.S238R	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	293	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCAAAGCCAGCGACGCTGATG	0.458000													3	37					1	1	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20435364	20435364	+	Silent	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr16:20435364C>A	ENST00000331849.4	+	6	1041	c.894C>A	c.(892-894)ccC>ccA	p.P298P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	298					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGCTGCCCCGAGTTGATG	0.463000													5	53					0.014758	0.0156615	1	1	0
ABCC12	94160	broad.mit.edu	37	16	48119613	48119613	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr16:48119613A>G	ENST00000311303.3	-	27	4064	c.3719T>C	c.(3718-3720)aTg>aCg	p.M1240T	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000532355.1_5'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1240	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGGGAGTTTCATTATCTACAA	0.423000													7	73					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803157	157803157	+	Silent	SNP	C	C	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:157803157C>T	ENST00000368174.4	-	5	960	c.864G>A	c.(862-864)ggG>ggA	p.G288G		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	288	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGAGGGACTTCCCACAGCCCA	0.592000													9	106					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72234010	72234010	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr8:72234010G>C	ENST00000340726.3	-	6	1016	c.377C>G	c.(376-378)aCg>aGg	p.T126R	EYA1_ENST00000388742.4_Missense_Mutation_p.T126R|EYA1_ENST00000388741.2_Missense_Mutation_p.T92R|EYA1_ENST00000388740.3_Missense_Mutation_p.T93R|EYA1_ENST00000419131.1_Missense_Mutation_p.T126R|EYA1_ENST00000303824.7_Missense_Mutation_p.T125R|EYA1_ENST00000388743.2_Missense_Mutation_p.T125R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	126					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CTGTGGGTACGTGGCATAGGC	0.502000													4	58					0	0	1	0	0
MFSD7	84179	broad.mit.edu	37	4	679889	679889	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr4:679889A>T	ENST00000322224.4	-	3	810	c.497T>A	c.(496-498)cTc>cAc	p.L166H	MFSD7_ENST00000404286.2_Missense_Mutation_p.L166H|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000503156.1_Missense_Mutation_p.L102H|MFSD7_ENST00000347950.5_Intron			Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	166					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CATGGTGGCGAGCATGTTGGC	0.662000													4	36					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36484932	36484932	+	Missense_Mutation	SNP	G	G	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr3:36484932G>A	ENST00000273183.3	+	2	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	STAC_ENST00000476388.1_3'UTR|STAC_ENST00000457375.2_Missense_Mutation_p.R63Q	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	63					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding	p.R63Q(1)		endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						TTCTTCCAGCGAACCAACAGC	0.512000													6	55					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr20:46279860G>A	ENST00000372004.3	+	20	3990	c.3774G>A	c.(3772-3774)caG>caA	p.Q1258Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567000													5	52					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117266286	117266286	+	Silent	SNP	G	G	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr11:117266286G>A	ENST00000278935.3	+	24	3084	c.2937G>A	c.(2935-2937)caG>caA	p.Q979Q	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	979					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCCATCAGCAGCTGGAGGAGG	0.567000													3	25					0	0	1	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191922	71191922	+	Missense_Mutation	SNP	G	G	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:71191922G>C	ENST00000234396.4	+	13	1378	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.E418D|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	435					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						TAGTTGGGGAGGAGGCGCTCA	0.607000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	50					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210296	100210296	+	Silent	SNP	C	C	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:100210296C>T	ENST00000317233.4	-	14	2062	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	AFF3_ENST00000409579.1_Silent_p.A634A|AFF3_ENST00000356421.2_Silent_p.A634A|AFF3_ENST00000409236.1_Silent_p.A609A	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	609					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGTCCGCGGCCGCGGGCTCCT	0.746000													6	41					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	67					0	0	1	0	0
TUBA1B	10376	broad.mit.edu	37	12	49523049	49523049	+	Silent	SNP	A	A	G	rs1057072		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr12:49523049A>G	ENST00000336023.5	-	3	445	c.351T>C	c.(349-351)ctT>ctC	p.L117L	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	117					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCCAACACAAGGTCAATGA	0.488000													7	179					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72535015	72535015	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr15:72535015C>A	ENST00000569795.1	-	21	2274	c.1587G>T	c.(1585-1587)atG>atT	p.M529I	PARP6_ENST00000260376.7_Missense_Mutation_p.C506F|PARP6_ENST00000287196.9_Missense_Mutation_p.M529I|PARP6_ENST00000413097.2_5'UTR			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	529	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						CCTTGGAGGGCATCCTGTGCT	0.463000													7	69					0.00448238	0.00495923	1	1	0
ZNF214	7761	broad.mit.edu	37	11	7022511	7022511	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr11:7022511T>G	ENST00000278314.4	-	3	718	c.403A>C	c.(403-405)Aat>Cat	p.N135H	ZNF214_ENST00000536068.1_Missense_Mutation_p.N135H	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GGCATAAAATTTTTATATTTT	0.398000													6	146					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	68					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	rs147803166	by1000genomes	TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562000													6	763					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Missense_Mutation	SNP	C	C	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr9:78790192C>G	ENST00000376767.3	+	14	2559	c.2047C>G	c.(2047-2049)Cga>Gga	p.R683G	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373000													3	2					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201081402	201081402	+	Missense_Mutation	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:201081402C>A	ENST00000362061.3	-	1	292	c.66G>T	c.(64-66)gaG>gaT	p.E22D	CACNA1S_ENST00000367338.3_Missense_Mutation_p.E22D	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	22					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCAGAATCTCAGGAACTG	0.582000													10	101					7.48243e-07	8.84287e-07	1	1	0
AMD1	262	broad.mit.edu	37	6	111210061	111210061	+	Splice_Site	SNP	G	G	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr6:111210061G>C	ENST00000368885.3	+	3	535	c.197_splice	c.e3-1	p.E67_splice	AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000368877.5_Splice_Site_p.E38_splice|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	67		Cleavage (non-hydrolytic); by autolysis.			spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	CAACTGCAGTGAGAGTAGCAT	0.383000													10	63					0	0	1	0	0
NUMB	8650	broad.mit.edu	37	14	73743661	73743661	+	Silent	SNP	C	C	A			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr14:73743661C>A	ENST00000556772.1	-	7	3436	c.1149G>T	c.(1147-1149)gtG>gtT	p.V383V	NUMB_ENST00000557597.1_Silent_p.V516V|NUMB_ENST00000554546.1_Silent_p.V468V|NUMB_ENST00000555394.1_Silent_p.V479V|NUMB_ENST00000355058.3_Silent_p.V527V|NUMB_ENST00000555738.2_Silent_p.V370V|NUMB_ENST00000560335.1_Silent_p.V381V|NUMB_ENST00000554521.2_Silent_p.V321V|NUMB_ENST00000559312.1_Silent_p.V332V|NUMB_ENST00000356296.4_Silent_p.V479V|NUMB_ENST00000544991.3_Silent_p.V332V|NUMB_ENST00000555238.1_Silent_p.V527V|NUMB_ENST00000454166.4_Silent_p.V381V|NUMB_ENST00000359560.3_Silent_p.V516V|NUMB_ENST00000535282.1_Silent_p.V516V			P49757	NUMB_HUMAN	numb homolog (Drosophila)	527					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)		GAGTGATGCCCACCACAGGCA	0.617000													4	37					0.00909568	0.00985365	1	1	0
SPTB	6710	broad.mit.edu	37	14	65239464	65239464	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr14:65239464G>T	ENST00000389722.3	-	25	5440	c.5387C>A	c.(5386-5388)tCc>tAc	p.S1796Y	SPTB_ENST00000542895.1_Missense_Mutation_p.S1796Y|SPTB_ENST00000389720.3_Missense_Mutation_p.S1796Y|SPTB_ENST00000389721.5_Missense_Mutation_p.S1796Y|SPTB_ENST00000556626.1_Missense_Mutation_p.S1796Y	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1796					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CAGGTCATAGGAGGCGGCCAG	0.662000													12	72					5.50884e-06	6.36577e-06	1	1	0
HDAC9	9734	broad.mit.edu	37	7	18767317	18767317	+	Missense_Mutation	SNP	C	C	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr7:18767317C>T	ENST00000406451.3	+	13	1987	c.1837C>T	c.(1837-1839)Cct>Tct	p.P613S	HDAC9_ENST00000401921.1_Missense_Mutation_p.P572S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P616S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P613S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	613					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	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)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TCACTCTTCCCCTGCTGCCTC	0.582000													3	12					0	0	1	0	0
COG2	22796	broad.mit.edu	37	1	230807286	230807286	+	Missense_Mutation	SNP	T	T	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:230807286T>G	ENST00000534989.1	+	8	957	c.622T>G	c.(622-624)Tct>Gct	p.S208A	COG2_ENST00000535166.1_Missense_Mutation_p.S151A|COG2_ENST00000494371.1_3'UTR|COG2_ENST00000366668.3_Missense_Mutation_p.S267A|COG2_ENST00000366669.4_Missense_Mutation_p.S267A			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	267					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTTGAATCTCATCCCAA	0.373000													19	95					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844900	18844900	+	RNA	SNP	C	C	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr22:18844900C>T	ENST00000412938.1	+	0	3150																											ACAGCTTCAGCGTGCCTGCGA	0.577000													4	58					0	0	1	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29848969	29848969	+	Silent	SNP	C	C	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr17:29848969C>T	ENST00000325874.8	+	6	1024	c.795C>T	c.(793-795)taC>taT	p.Y265Y	RAB11FIP4_ENST00000394744.2_Silent_p.Y163Y	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	265	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GGCACGTGTACAACAGCGAAT	0.507000													6	72					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412296	51412296	+	Missense_Mutation	SNP	A	A	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr11:51412296A>C	ENST00000319760.6	-	1	152	c.100T>G	c.(100-102)Ttg>Gtg	p.L34V		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACTGTCACCAAGTATGTGAGT	0.423000													4	54					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473333	22473333	+	RNA	SNP	A	A	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr15:22473333A>G	ENST00000557788.2	-	0	20																											CCAGGAGGAGAAAGAACCACA	0.512000													4	53					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	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				14	59					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													4	56					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371952	42371952	+	Missense_Mutation	SNP	A	A	G			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr15:42371952A>G	ENST00000290472.3	-	13	1194	c.1100T>C	c.(1099-1101)aTg>aCg	p.M367T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	367	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CAGGTGGGCCATTGTCCTGGA	0.627000													5	46					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24035813	24035813	+	Missense_Mutation	SNP	T	T	C			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr14:24035813T>C	ENST00000308724.5	-	2	1042	c.287A>G	c.(286-288)gAg>gGg	p.E96G	RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.E96G|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	96					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		ATCGTGCCTCTCATCCAATAG	0.537000													20	182					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71896855	71896855	+	Missense_Mutation	SNP	A	A	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr2:71896855A>T	ENST00000258104.3	+	50	5923	c.5646A>T	c.(5644-5646)caA>caT	p.Q1882H	DYSF_ENST00000409366.1_Missense_Mutation_p.Q1904H|DYSF_ENST00000409582.3_Missense_Mutation_p.Q1920H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.Q1913H|DYSF_ENST00000394120.2_Missense_Mutation_p.Q1883H|DYSF_ENST00000429174.2_Missense_Mutation_p.Q1903H|DYSF_ENST00000410020.3_Missense_Mutation_p.Q1921H|DYSF_ENST00000410041.1_Missense_Mutation_p.Q1900H|DYSF_ENST00000409744.1_Missense_Mutation_p.Q1890H|DYSF_ENST00000409762.1_Missense_Mutation_p.Q1899H|DYSF_ENST00000409651.1_Missense_Mutation_p.Q1914H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1882						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGCTGAGCAAGTCTGTACCA	0.532000													7	90					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662000													3	28					1	1	1	1	0
LCE1F	353137	broad.mit.edu	37	1	152748940	152748940	+	Silent	SNP	A	A	G	rs137888629		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr1:152748940A>G	ENST00000334371.2	+	1	93	c.93A>G	c.(91-93)ccA>ccG	p.P31P		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	31	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			agtgccccccaaagtgtcccc	0.662000													9	100					0	0	1	0	0
C3orf27	23434	broad.mit.edu	37	3	128292319	128292320	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr3:128292319_128292320delTC	ENST00000356020.2	-	3	1219_1220	c.253_254delGA	c.(253-255)tfs	p.D86fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	86										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GAGCTCGTCATCTCTCTCTCTC	0.599													9	80	---	---	---	---					
PCDHGB4	8641	broad.mit.edu	37	5	140767492	140767497	+	In_Frame_Del	DEL	TGCCAG	TGCCAG	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr5:140767492_140767497delTGCCAG	ENST00000519479.1	+	1	41_46	c.41_46delTGCCAG	c.(40-48)ctg>c	p.LPV14del	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1												p.P15_V16delPV(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGAGAGGCTGCCAGTGCTCTTTCT	0.617											OREG0016859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	3	---	---	---	---					
CYP21A1P	1590	broad.mit.edu	37	6	31973890	31973891	+	RNA	INS	-	-	T			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr6:31973890_31973891insT	ENST00000342991.6	+	0	478_479					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										tcttaaacaaattttttttttg	0.495													3	4	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	5	---	---	---	---					
EEF1D	1936	broad.mit.edu	37	8	144662231	144662234	+	Frame_Shift_Del	DEL	TTGT	TTGT	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr8:144662231_144662234delTTGT	ENST00000532741.1	-	7	2231_2234	c.2003_2006delACAA	c.(2002-2007)ggfs	p.DK668fs	EEF1D_ENST00000395119.3_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000442189.2_Frame_Shift_Del_p.DK618fs|EEF1D_ENST00000528610.1_Frame_Shift_Del_p.DK228fs|EEF1D_ENST00000526838.1_Frame_Shift_Del_p.DK233fs|EEF1D_ENST00000317198.6_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000532400.1_Frame_Shift_Del_p.TR68fs|EEF1D_ENST00000423316.2_Frame_Shift_Del_p.DK618fs|EEF1D_ENST00000531621.1_Frame_Shift_Del_p.DK209fs|EEF1D_ENST00000419152.2_Frame_Shift_Del_p.DK252fs|EEF1D_ENST00000524624.1_Frame_Shift_Del_p.DK228fs|EEF1D_ENST00000529272.1_Frame_Shift_Del_p.DK252fs|RP11-661A12.7_ENST00000529247.1_RNA			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	252					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TGTCCCCACCTTGTCGTCCTCCAC	0.632													13	94	---	---	---	---					
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)del	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443													8	464	---	---	---	---					
CDC27	996	broad.mit.edu	37	17	45247389	45247389	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chr17:45247389delT	ENST00000066544.3	-	4	364	c.271delA	c.(271-273)tcfs	p.I91fs	CDC27_ENST00000527547.1_Frame_Shift_Del_p.I91fs|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Frame_Shift_Del_p.I30fs|RP5-867C24.5_ENST00000572193.1_RNA|CDC27_ENST00000531206.1_Frame_Shift_Del_p.I91fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.I91fs*54(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGATAAGATTTGTTCCCCT	0.323													10	157	---	---	---	---					
GAGE10	643832	broad.mit.edu	37	X	49173752	49173752	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EB-A4OZ-01A-12D-A25O-08	TCGA-EB-A4OZ-10A-01D-A25O-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	C2C804DA-A41F-451D-93A4-540354DD399E	8D798914-A529-40F5-BBF7-3AC7FCFD3407	g.chrX:49173752delA	ENST00000407599.3	+	4	406	c.313delA	c.(313-315)aafs	p.K105fs		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	105										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					AGAGGAGGTGAAAAGGCCTGA	0.468													7	276	---	---	---	---					
