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
LUZP2	338645	broad.mit.edu	37	11	25004673	25004673	+	Splice_Site	SNP	A	A	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:25004673A>T	ENST00000533227.1	+	9	628	c.339_splice	c.e9-1	p.E114_splice	LUZP2_ENST00000336930.6_Splice_Site_p.E200_splice	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	200						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTTTTGTAGGAGTCACAGATG	0.403000													40	85					0	0	1	0	0
BAHD1	22893	broad.mit.edu	37	15	40750818	40750818	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:40750818G>A	ENST00000561234.1	+	2	414	c.155G>A	c.(154-156)cGc>cAc	p.R52H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R52H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R52H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	52					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ACAGGGCGCCGCAAGAATTAC	0.627000													23	52					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													3	33					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													4	94					0	0	1	0	0
ZNF641	121274	broad.mit.edu	37	12	48741884	48741884	+	Missense_Mutation	SNP	G	G	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:48741884G>C	ENST00000544117.2	-	2	740	c.32C>G	c.(31-33)tCt>tGt	p.S11C	ZNF641_ENST00000448928.3_5'UTR|ZNF641_ENST00000547026.1_5'UTR|ZNF641_ENST00000301042.3_Missense_Mutation_p.S11C			Q96N77	ZN641_HUMAN	zinc finger protein 641	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						TTCTGCTGCAGACCCAAATTG	0.483000													13	38					0	0	1	0	0
ABHD6	57406	broad.mit.edu	37	3	58270837	58270837	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:58270837G>T	ENST00000478253.1	+	8	1208	c.707G>T	c.(706-708)cGc>cTc	p.R236L	ABHD6_ENST00000295962.4_Missense_Mutation_p.R236L			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	236						integral to membrane	acylglycerol lipase activity	p.R236H(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GTCGATGTCCGCATCCCTCAT	0.443000													4	120					0.150653	0.153496	1	1	0
C7orf43	55262	broad.mit.edu	37	7	99754500	99754500	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:99754500C>G	ENST00000316937.3	-	6	1146	c.961G>C	c.(961-963)Ggg>Cgg	p.G321R	C7orf43_ENST00000457641.1_Missense_Mutation_p.G52R|C7orf43_ENST00000419841.1_Missense_Mutation_p.G89R|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	321										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCTCACCCCCTCTCAGCTGA	0.602000													77	78					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76134727	76134727	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:76134727C>T	ENST00000324432.5	+	12	2188	c.1678C>T	c.(1678-1680)Ctc>Ttc	p.L560F	DTX2_ENST00000446600.1_Missense_Mutation_p.L469F|DTX2_ENST00000430490.2_Missense_Mutation_p.L560F|DTX2_ENST00000446820.2_Missense_Mutation_p.L513F|DTX2_ENST00000307569.8_Missense_Mutation_p.L513F|DTX2_ENST00000413936.2_Missense_Mutation_p.L560F	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	560					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GAAGAGGCGGCTCATCTTCAC	0.622000													5	4					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557272	40557272	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:40557272C>T	ENST00000357037.5	-	2	1025	c.606G>A	c.(604-606)tcG>tcA	p.S202S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	202					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CCTCGTCCGACGAAAGCTCCA	0.667000													8	108					0	0	1	0	0
ACHE	43	broad.mit.edu	37	7	100490251	100490251	+	Silent	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:100490251G>A	ENST00000302913.4	-	3	1395	c.1257C>T	c.(1255-1257)ccC>ccT	p.P419P	ACHE_ENST00000428317.1_Silent_p.P419P|ACHE_ENST00000411582.1_Silent_p.P419P|ACHE_ENST00000412389.1_Silent_p.P419P|ACHE_ENST00000241069.5_Silent_p.P419P|ACHE_ENST00000419336.2_Intron	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	419					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGGGTCCTCGGGATGCAGCC	0.701000													13	25					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849095	94849095	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:94849095C>A	ENST00000448921.1	-	4	1052	c.480G>T	c.(478-480)aaG>aaT	p.K160N	SERPINA1_ENST00000393088.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000393087.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000437397.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000404814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000449399.3_Missense_Mutation_p.K160N|SERPINA1_ENST00000402629.1_Missense_Mutation_p.K160N|SERPINA1_ENST00000355814.4_Missense_Mutation_p.K160N|SERPINA1_ENST00000440909.1_Missense_Mutation_p.K160N	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	160					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	AGTGGTACAACTTTTTAACAT	0.507000													8	95					0.27861	0.27861	1	1	0
KMT2C	58508	broad.mit.edu	37	7	151846165	151846165	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:151846165T>G	ENST00000355193.2	-	53	13236	c.13018A>C	c.(13018-13020)Aac>Cac	p.N4340H	KMT2C_ENST00000262189.6_Missense_Mutation_p.N4283H					lysine (K)-specific methyltransferase 2C																		GTGGAGATGTTGTTGCTGTAC	0.498000													15	40					0	0	1	0	0
B3GNT7	93010	broad.mit.edu	37	2	232263298	232263298	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:232263298G>A	ENST00000287590.5	+	2	1129	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	290					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GGCCCTGTACGGCAAGGCCAG	0.652000													6	28					0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021258	3021258	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr16:3021258C>T	ENST00000318782.8	+	2	697	c.267C>T	c.(265-267)tgC>tgT	p.C89C	PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Intron|PAQR4_ENST00000574988.1_Silent_p.C22C|PAQR4_ENST00000576565.1_Silent_p.C22C|PAQR4_ENST00000572687.1_Intron	NM_152341.3	NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	89						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GCGTGGCCTGCCTTGCACCCC	0.662000													6	41					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													4	46					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228494135	228494135	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr1:228494135A>C	ENST00000570156.2	+	55	14667	c.14593A>C	c.(14593-14595)Acc>Ccc	p.T4865P	OBSCN_ENST00000284548.11_Missense_Mutation_p.T3908P|OBSCN_ENST00000422127.1_Missense_Mutation_p.T3908P|OBSCN_ENST00000366709.4_Missense_Mutation_p.T1027P|OBSCN_ENST00000366707.4_Missense_Mutation_p.T1542P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3908					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTCCACGGCCACCCTGCAGTG	0.682000													8	20					0	0	1	0	0
TTF1	7270	broad.mit.edu	37	9	135277515	135277515	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:135277515C>T	ENST00000334270.2	-	2	733	c.694G>A	c.(694-696)Gag>Aag	p.E232K		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	232					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		GCCAGTGTCTCATATTCCCGG	0.483000													21	37					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215617196	215617196	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:215617196G>A	ENST00000260947.4	-	7	1786	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L	BARD1_ENST00000449967.2_Missense_Mutation_p.S407L	NM_000465.2	NP_000456.2	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	551					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGAGGATGATTCATTCTT	0.338000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				46	70					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13251264	13251264	+	Silent	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:13251264G>A	ENST00000262487.3	+	2	258	c.252G>A	c.(250-252)ccG>ccA	p.P84P	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	84						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCCCCAGACCGCGATTCCGAC	0.507000													4	16					0	0	1	0	0
AVEN	57099	broad.mit.edu	37	15	34295292	34295292	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr15:34295292T>C	ENST00000306730.3	-	2	515	c.386A>G	c.(385-387)aAt>aGt	p.N129S	CHRM5_ENST00000383263.5_Intron	NM_020371.2	NP_065104.1	Q9NQS1	AVEN_HUMAN	apoptosis, caspase activation inhibitor	129					anti-apoptosis|apoptosis	endomembrane system|intracellular|membrane|membrane fraction	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	7		all_lung(180;1.78e-08)		all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359)		ACTTTCATTATTGACCTCTTT	0.398000													24	49					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1078359	1078359	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:1078359G>A	ENST00000441003.2	+	5	673	c.646G>A	c.(646-648)Gca>Aca	p.A216T	MUC2_ENST00000359061.5_Missense_Mutation_p.A216T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	216	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGTGGCCCCCGCATCCTGCTC	0.647000													3	30					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5765643	5765643	+	Silent	SNP	G	G	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:5765643G>T	ENST00000328090.5	+	7	775	c.150G>T	c.(148-150)ccG>ccT	p.P50P	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	50																	TTTTCAGACCGCAGGAACTAG	0.313000													14	49					3.45872e-05	3.73541e-05	1	1	0
PROKR2	128674	broad.mit.edu	37	20	5283201	5283201	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:5283201C>T	ENST00000546004.1	-	3	886	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	PROKR2_ENST00000217270.3_Missense_Mutation_p.V214M			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	214						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						TGCTGATCCACAGGCCAGATC	0.512000										HNSCC(71;0.22)			28	56					0	0	1	0	0
KLHL22	84861	broad.mit.edu	37	22	20800756	20800756	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:20800756C>T	ENST00000328879.4	-	6	1669	c.1513G>A	c.(1513-1515)Gcc>Acc	p.A505T	KLHL22_ENST00000440659.2_Missense_Mutation_p.A362T	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	505					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTGTATCCGGCATCGTTGTTG	0.592000													11	14					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847127	79847127	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:79847127C>T	ENST00000331204.4	-	3	474	c.448G>A	c.(448-450)Gac>Aac	p.D150N	ALYREF_ENST00000505490.2_Missense_Mutation_p.D157N|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	150	Ala/Arg/Gly-rich.|RRM.			D -> N (in Ref. 5; AAD09608).	intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										AAGTGCACGTCTGCTGTTCCT	0.562000													26	34					0	0	1	0	0
SLC22A13	9390	broad.mit.edu	37	3	38316585	38316585	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr3:38316585G>A	ENST00000311856.4	+	4	792	c.743G>A	c.(742-744)cGc>cAc	p.R248H	SLC22A13_ENST00000450935.2_Silent_p.P155P	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	248						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TACGGTTTCCGCAACTGGAGG	0.617000													4	146					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121031011	121031011	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:121031011C>T	ENST00000392793.1	+	15	5128	c.4857C>T	c.(4855-4857)tgC>tgT	p.C1619C	TECTA_ENST00000264037.2_Silent_p.C1619C			O75443	TECTA_HUMAN	tectorin alpha	1619	VWFD 4.		C -> S (in DFNA12; dbSNP:rs28939691).		cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ACAAAGTGTGCGGTCTCTGTG	0.507000													32	28					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37255199	37255199	+	Silent	SNP	A	A	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr2:37255199A>G	ENST00000233099.5	-	24	3815	c.3720T>C	c.(3718-3720)ttT>ttC	p.F1240F	HEATR5B_ENST00000354531.2_Silent_p.F1240F	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1240							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)				GAGGGGCCACAAAGGGCTTTG	0.443000													15	31					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451578	37451578	+	Splice_Site	SNP	G	G	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:37451578G>C	ENST00000374660.1	+	16	1833	c.1732_splice	c.e16-1	p.E578_splice	ANKRD30A_ENST00000602533.1_Splice_Site_p.E578_splice|ANKRD30A_ENST00000361713.1_Splice_Site_p.E578_splice			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	634						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCTTTTTAGAGCCTCCGGGGA	0.333000													6	97					0	0	1	0	0
PELO	53918	broad.mit.edu	37	5	52096235	52096235	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr5:52096235C>T	ENST00000274311.2	+	2	992	c.7C>T	c.(7-9)Ctc>Ttc	p.L3F	ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	3					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				GGCCATGAAGCTCGTGAGGAA	0.612000													6	25					0	0	1	0	0
C1S	716	broad.mit.edu	37	12	7177521	7177521	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr12:7177521G>A	ENST00000406697.1	+	15	2261	c.1633G>A	c.(1633-1635)Gtc>Atc	p.V545I	C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.V545I|C1S_ENST00000402681.3_Missense_Mutation_p.V378I|C1S_ENST00000360817.5_Missense_Mutation_p.V545I			P09871	C1S_HUMAN	complement component 1, s subcomponent	545	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGACCCACCGTCTCTCCCAT	0.552000													8	16					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	MYH13_ENST00000570743.1_Missense_Mutation_p.R1638H|MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622000													6	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113697664	113697664	+	Nonsense_Mutation	SNP	G	G	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:113697664G>T	ENST00000297405.5	-	15	2697	c.2453C>A	c.(2452-2454)tCa>tAa	p.S818*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.S818*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.S778*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.S714*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	818	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCACGTCCTGACATTGAGTG	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	54					4.35082e-09	4.79478e-09	1	1	0
SDF2L1	23753	broad.mit.edu	37	22	21998284	21998284	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:21998284C>G	ENST00000248958.4	+	3	562	c.486C>G	c.(484-486)ttC>ttG	p.F162L		NM_022044.2	NP_071327.2	Q9HCN8	SDF2L_HUMAN	stromal cell-derived factor 2-like 1	162	MIR 3.			F -> L (in Ref. 1; BAB18277).		endoplasmic reticulum lumen|membrane				prostate(1)	1	Colorectal(54;0.105)					CTGTGCGCTTCCAGCATGTGG	0.627000											OREG0026342	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	20					0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53660191	53660191	+	Missense_Mutation	SNP	A	A	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr6:53660191A>G	ENST00000370888.1	+	1	414	c.137A>G	c.(136-138)aAc>aGc	p.N46S	LRRC1_ENST00000370882.1_Missense_Mutation_p.N46S	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	46						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGGACGCCAACCAGCTCCGC	0.662000													12	13					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8665932	8665932	+	Silent	SNP	G	G	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr19:8665932G>A	ENST00000270328.4	-	5	956	c.690C>T	c.(688-690)ggC>ggT	p.G230G	ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.G230G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	230					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ATCGCTTCAGGCCTGGCTGGC	0.637000													17	24					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357328	13357328	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr8:13357328C>T	ENST00000276297.4	-	2	662	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	DLC1_ENST00000316609.5_Missense_Mutation_p.V85M|DLC1_ENST00000511869.1_Missense_Mutation_p.V85M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	85					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCGTCCACATCCTTTGAA	0.458000													6	251					0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													3	63					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													4	96					0	0	1	0	0
PRF1	5551	broad.mit.edu	37	10	72358340	72358340	+	Silent	SNP	C	C	T			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr10:72358340C>T	ENST00000441259.1	-	3	1297	c.1137G>A	c.(1135-1137)cgG>cgA	p.R379R	PRF1_ENST00000373209.2_Silent_p.R379R	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	379	EGF-like.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GTGGGCACGGCCGGCTGCAGT	0.701000			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				3	10					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	18027870	18027870	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr22:18027870C>A	ENST00000262608.8	+	16	2830	c.2830C>A	c.(2830-2832)Cca>Aca	p.P944T	CECR2_ENST00000400573.4_Missense_Mutation_p.P943T|CECR2_ENST00000400585.2_Missense_Mutation_p.P801T	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	985					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAGAAACCACCAGGTGTTGG	0.473000													3	5					0.115264	0.119697	1	1	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				10	15	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708854	180708855	+	RNA	INS	-	-	G	rs60396213		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr5:180708854_180708855insG	ENST00000412295.2	+	0	238																											GAGCGGTAGGAGGGGGGCTGGA	0.693													2	4	---	---	---	---					
RBAK	57786	broad.mit.edu	37	7	5112027	5112029	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr7:5112027_5112029delTGC	ENST00000407184.1	+	7	600_602	c.334_336delTGC	c.(334-336)del	p.C117del	RBAK_ENST00000396904.2_In_Frame_Del_p.VA91del|RBAK_ENST00000498308.1_3'UTR			Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CCCCCgctgttgctgctgctgct	0.709													2	4	---	---	---	---					
OMD	4958	broad.mit.edu	37	9	95178945	95178945	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr9:95178945delG	ENST00000375550.4	-	2	1171	c.896delC	c.(895-897)cafs	p.P299fs	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	299					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						CAAATTTCTTGGAATATAGAA	0.308			T	USP6	aneurysmal bone cysts								11	30	---	---	---	---					
TMEM179B	374395	broad.mit.edu	37	11	62557409	62557411	+	In_Frame_Del	DEL	GTC	GTC	-	rs149169067		TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr11:62557409_62557411delGTC	ENST00000333449.4	+	5	555_557	c.550_552delGTC	c.(550-552)del	p.V185del	TMEM223_ENST00000527073.1_Intron|TMEM223_ENST00000525631.1_Intron|TMEM179B_ENST00000533861.1_3'UTR	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	185						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GGTGCTCCAGGTCGTGCAGTGGA	0.562													66	122	---	---	---	---					
FOXA1	3169	broad.mit.edu	37	14	38061229	38061237	+	In_Frame_Del	DEL	ACATGTTGC	ACATGTTGC	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr14:38061229_38061237delACATGTTGC	ENST00000250448.2	-	2	813_821	c.752_760delGCAACATGT	c.(751-762)gtc>g	p.GNMF251del	FOXA1_ENST00000540786.1_In_Frame_Del_p.GNMF218del|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	251					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.M253R(2)|p.M253K(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGTTCTCGAACATGTTGCCGGAGTCCGG	0.689													8	15	---	---	---	---					
WSCD1	23302	broad.mit.edu	37	17	5984071	5984071	+	Frame_Shift_Del	DEL	C	C	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:5984071delC	ENST00000574946.1	+	2	483	c.93delC	c.(91-93)agfs	p.S31fs	WSCD1_ENST00000574232.1_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000317744.5_Frame_Shift_Del_p.S31fs|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Frame_Shift_Del_p.S31fs			Q658N2	WSCD1_HUMAN	WSC domain containing 1	31						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGACCGGCAGCCTGCTGCTGC	0.682													8	13	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43591984	43591985	+	RNA	INS	-	-	G			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chr17:43591984_43591985insG	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GTGGGTCATGCGGAGCGAGTTT	0.411													8	28	---	---	---	---					
ZMYM3	9203	broad.mit.edu	37	X	70465321	70465322	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-VP-AA1N-01A-31D-A41K-08	TCGA-VP-AA1N-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdd3c350-9cd0-45f3-a822-6174c4edfba0	df551c39-d578-49ea-8e80-24c14dbb340d	g.chrX:70465321_70465322delGG	ENST00000373998.1	-	18	3535_3536	c.2838_2839delCC	c.(2836-2841)aaagfs	p.NQ946fs	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000353904.2_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000314425.5_Frame_Shift_Del_p.NQ958fs|ZMYM3_ENST00000373984.3_Frame_Shift_Del_p.NQ960fs|ZMYM3_ENST00000373988.1_Frame_Shift_Del_p.NQ960fs	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	958					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTGCACTCTGGTTGCTCACAA	0.545													4	5	---	---	---	---					
