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
OR5K3	403277	broad.mit.edu	37	3	98109533	98109533	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:98109533G>C	ENST00000383695.1	+	1	24	c.24G>C	c.(22-24)ttG>ttC	p.L8F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L8F(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						ATCACTCCTTGATAGCTGAGT	0.388000													24	73					0	0	0.002780	0	0
BTBD7	55727	broad.mit.edu	37	14	93754978	93754978	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:93754978C>T	ENST00000555525.1	-	3	1367	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000334746.5_Intron|BTBD7_ENST00000298896.3_3'UTR|BTBD7_ENST00000554565.1_Intron			Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	0										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		gatgggttttcatatttaaga	0.433000													41	168					0	0	0.003214	0	0
CPSF2	53981	broad.mit.edu	37	14	92625450	92625450	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92625450G>T	ENST00000298875.4	+	14	2230	c.1945G>T	c.(1945-1947)Gaa>Taa	p.E649*		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	649					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTTATTTTAGAAGAAGGAGA	0.413000													31	62					6.04164e-23	1.01429e-22	0.002096	1	0
DMXL1	1657	broad.mit.edu	37	5	118576160	118576160	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:118576160G>C	ENST00000311085.8	+	41	8715	c.8635G>C	c.(8635-8637)Gtc>Ctc	p.V2879L	DMXL1_ENST00000539542.1_Missense_Mutation_p.V2900L|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2879										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CAATAGTTTAGTCCATGGTAA	0.289000													42	102					0	0	0.002222	0	0
CASP1	834	broad.mit.edu	37	11	104904955	104904955	+	Missense_Mutation	SNP	C	C	T	rs2509649		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:104904955C>T	ENST00000533400.1	-	2	289	c.254G>A	c.(253-255)gGg>gAg	p.G85E	CASP1_ENST00000353247.5_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.G85E|CASP1_ENST00000526568.1_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.G69E|CASP1_ENST00000598974.1_Missense_Mutation_p.G85E|CASP1_ENST00000446369.1_Intron|CASP1_ENST00000525825.1_Missense_Mutation_p.G85E|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000593315.1_Missense_Mutation_p.G85E|CASP1_ENST00000436863.3_Missense_Mutation_p.G85E|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000528974.1_Missense_Mutation_p.G46E|CASP1_ENST00000534497.1_Intron	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	85	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding	p.G85E(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCCAGCGTCCCTGCCAGGTA	0.468000													6	270					0	0	0.001984	0	0
DLG1	1739	broad.mit.edu	37	3	196846384	196846384	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196846384C>G	ENST00000346964.2	-	13	1471	c.1282G>C	c.(1282-1284)Gat>Cat	p.D428H	DLG1_ENST00000452595.1_Missense_Mutation_p.D312H|DLG1_ENST00000450955.1_Missense_Mutation_p.D395H|DLG1_ENST00000448528.2_Missense_Mutation_p.D428H|DLG1_ENST00000443183.1_Missense_Mutation_p.D312H|DLG1_ENST00000419354.1_Missense_Mutation_p.D428H|DLG1_ENST00000392382.2_Missense_Mutation_p.D395H|DLG1_ENST00000314062.3_Missense_Mutation_p.D377H|DLG1_ENST00000422288.1_Missense_Mutation_p.D377H|DLG1_ENST00000357674.4_Missense_Mutation_p.D395H	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	428					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ACATGGTTATCAACAGGCTGA	0.388000													13	146					0	0	0.001368	0	0
ANO3	63982	broad.mit.edu	37	11	26681844	26681844	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26681844C>T	ENST00000256737.3	+	27	3651	c.2799C>T	c.(2797-2799)taC>taT	p.Y933Y	ANO3_ENST00000531568.1_Silent_p.Y787Y|ANO3_ENST00000537978.1_Silent_p.Y917Y|ANO3_ENST00000525139.1_Silent_p.Y917Y	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	933						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCATCGCATACCTGATTCCAG	0.373000													27	90					0	0	0.006320	0	0
ANO10	55129	broad.mit.edu	37	3	43596801	43596801	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:43596801G>C	ENST00000292246.3	-	10	1807	c.1637C>G	c.(1636-1638)tCa>tGa	p.S546*	ANO10_ENST00000451430.2_Nonsense_Mutation_p.S435*|ANO10_ENST00000414522.2_Nonsense_Mutation_p.S546*|ANO10_ENST00000396091.3_Nonsense_Mutation_p.S480*|ANO10_ENST00000350459.4_Nonsense_Mutation_p.S356*	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	546					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						TGAAGGTTCTGAGAATGGACG	0.353000													8	112					0	0	0.003080	0	0
SMYD4	114826	broad.mit.edu	37	17	1703541	1703541	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1703541C>T	ENST00000305513.7	-	5	1314	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	383							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TTGTTGCTTTCAGGTAAACAG	0.418000													17	196					0	0	0.006122	0	0
HBM	3042	broad.mit.edu	37	16	216015	216015	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:216015C>A	ENST00000356815.3	+	1	39	c.19C>A	c.(19-21)Cgc>Agc	p.R7S	HBM_ENST00000472539.1_Intron	NM_001003938.3	NP_001003938.1	Q6B0K9	HBM_HUMAN	hemoglobin, mu	7						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;1.62e-06)|all_epithelial(16;4.01e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CGCCCAGGAGCGCGCCCAAAT	0.721000													9	21					0.000442599	0.000627091	0.006214	1	0
SCN8A	6334	broad.mit.edu	37	12	52139700	52139700	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:52139700T>G	ENST00000354534.5	+	13	2190	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	SCN8A_ENST00000550891.1_Missense_Mutation_p.V671G|SCN8A_ENST00000545061.1_Missense_Mutation_p.V671G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	671					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	ACAACTGAGGTGGAAATTAAG	0.388000													8	65					0	0	0.006214	0	0
RPA1	6117	broad.mit.edu	37	17	1747221	1747221	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:1747221G>A	ENST00000254719.5	+	3	202	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	31					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TAGAACATCCGTCCCATTACT	0.488000								Nucleotide excision repair (NER)					69	36					0	0	0.003610	0	0
RIT2	6014	broad.mit.edu	37	18	40613778	40613778	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:40613778A>G	ENST00000589109.1	-	2	329	c.158T>C	c.(157-159)aTa>aCa	p.I53T	RIT2_ENST00000590910.1_Missense_Mutation_p.I53T|RIT2_ENST00000326695.5_Missense_Mutation_p.I53T|RIT2_ENST00000282028.4_Missense_Mutation_p.I53T	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	53					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCACTTACCTATAGTAGGGTC	0.308000													21	17					0	0	0.008871	0	0
FAT1	2195	broad.mit.edu	37	4	187521277	187521277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:187521277C>A	ENST00000441802.2	-	22	12087	c.11878G>T	c.(11878-11880)Gga>Tga	p.G3960*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3960	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCCTTGTTCCCTGCTGACGG	0.483000										HNSCC(5;0.00058)			60	70					6.09941e-20	9.94938e-20	0.003610	1	0
OIT3	170392	broad.mit.edu	37	10	74673213	74673213	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:74673213G>T	ENST00000334011.5	+	6	1156	c.938G>T	c.(937-939)gGt>gTt	p.G313V		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	313	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					AAGACATGTGGTACAGTGGTC	0.557000													39	114					1.57019e-19	2.54327e-19	0.007835	1	0
GTF2A2	2958	broad.mit.edu	37	15	59934436	59934436	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59934436C>A	ENST00000396060.2	-	4	384	c.203G>T	c.(202-204)tGc>tTc	p.C68F	GTF2A2_ENST00000484743.1_Missense_Mutation_p.C33F|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396061.1_Missense_Mutation_p.C68F|GTF2A2_ENST00000396063.1_Missense_Mutation_p.C68F|GTF2A2_ENST00000396064.3_Intron	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	68					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						CACATTATCGCAGAATCTGTA	0.343000													37	104					3.76114e-14	5.8582e-14	0.004289	1	0
MYH4	4622	broad.mit.edu	37	17	10353772	10353772	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:10353772G>T	ENST00000255381.2	-	30	4289	c.4179C>A	c.(4177-4179)gcC>gcA	p.A1393A	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1393					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCACATACTTGGCCTCCTCCA	0.517000													83	171					2.93416e-43	5.34187e-43	0.003610	1	0
NEBL	10529	broad.mit.edu	37	10	21139430	21139430	+	Splice_Site	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:21139430A>G	ENST00000377122.4	-	11	1406	c.1008_splice	c.e11-1	p.V337_splice	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	337					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTATATTTCACCTTCATTGG	0.318000													3	117					0	0	0.004672	0	0
KANSL1L	151050	broad.mit.edu	37	2	211018891	211018891	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:211018891G>C	ENST00000281772.9	-	2	679	c.416C>G	c.(415-417)tCa>tGa	p.S139*	KANSL1L_ENST00000418791.1_Nonsense_Mutation_p.S139*|KANSL1L_ENST00000452086.1_Nonsense_Mutation_p.S139*|KANSL1L_ENST00000457374.1_Nonsense_Mutation_p.S139*	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	139																	CGTGGTATCTGATAGAGGCTC	0.343000													5	73					0	0	0.001168	0	0
RCOR1	23186	broad.mit.edu	37	14	103188673	103188673	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:103188673G>C	ENST00000262241.6	+	11	1565	c.1339G>C	c.(1339-1341)Gaa>Caa	p.E447Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.E444Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	444					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGTAAAGAAGAGACCAA	0.413000													21	277					0	0	0.003330	0	0
ALS2	57679	broad.mit.edu	37	2	202575803	202575803	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:202575803G>C	ENST00000264276.6	-	26	4405	c.4033C>G	c.(4033-4035)Cag>Gag	p.Q1345E	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1345					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTAGTGTCTGAGTCTGTGAA	0.363000													27	102					0	0	0.003954	0	0
MYL1	4632	broad.mit.edu	37	2	211163191	211163191	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:211163191G>C	ENST00000352451.3	-	3	404	c.257C>G	c.(256-258)cCc>cGc	p.P86R	MYL1_ENST00000341685.4_Missense_Mutation_p.P42R|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	86					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TGCATTGGTGGGATTTGTGCC	0.478000													57	72					0	0	0.003610	0	0
APLP1	333	broad.mit.edu	37	19	36362534	36362534	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:36362534C>T	ENST00000221891.4	+	5	750	c.558C>T	c.(556-558)ctC>ctT	p.L186L	APLP1_ENST00000537454.2_Silent_p.L147L|APLP1_ENST00000586861.1_Silent_p.L180L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	186					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCAGGGCCTCATCCTGCACG	0.652000													24	92					0	0	0.003954	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283712	33283712	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33283712G>C	ENST00000431845.2	-	2	1133	c.982C>G	c.(982-984)Ctg>Gtg	p.L328V	ZBTB22_ENST00000418724.1_Missense_Mutation_p.L328V	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GTCAACACCAGATCTTCCTCC	0.557000													16	166					0	0	0.003163	0	0
UTP20	27340	broad.mit.edu	37	12	101750774	101750774	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:101750774C>G	ENST00000261637.4	+	43	5779	c.5605C>G	c.(5605-5607)Ctt>Gtt	p.L1869V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1869					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ACGCAGCACTCTTGCGAAAAT	0.388000													28	48					0	0	0.005443	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609741	84609741	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:84609741G>A	ENST00000344803.2	+	4	4403	c.4356G>A	c.(4354-4356)gaG>gaA	p.E1452E		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		TCAGAGCAGAGCCTGTCCAGG	0.532000													33	37					0	0	0.002096	0	0
IFT80	57560	broad.mit.edu	37	3	160099294	160099294	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160099294C>G	ENST00000326448.7	-	3	688	c.256G>C	c.(256-258)Gat>Cat	p.D86H	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	86						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACTTACCATCAGAACTTGTG	0.328000													15	106					0	0	0.003163	0	0
MYB	4602	broad.mit.edu	37	6	135518296	135518296	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:135518296A>T	ENST00000341911.5	+	10	1600	c.1401A>T	c.(1399-1401)ttA>ttT	p.L467F	MYB_ENST00000533624.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000528774.1_Missense_Mutation_p.L464F|MYB_ENST00000442647.2_Intron|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000534121.1_Missense_Mutation_p.L451F|MYB_ENST00000534044.1_Intron|MYB_ENST00000525369.1_Intron|MYB_ENST00000527615.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	441					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		CCAAGGTCTTACCTCCTGCAA	0.517000			T	NFIB	adenoid cystic carcinoma								39	113					0	0	0.004878	0	0
LOC100294362	100294362	broad.mit.edu	37	17	78388916	78388916	+	RNA	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:78388916C>G	ENST00000575034.1	-	0	2				CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NR_029376.1																						GCAAGCGTCTCCATGGCAACG	0.706000													3	22					0	0	0.004672	0	0
ZNF836	162962	broad.mit.edu	37	19	52659426	52659426	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52659426C>A	ENST00000322146.8	-	5	2031	c.1510G>T	c.(1510-1512)Ggt>Tgt	p.G504C	ZNF836_ENST00000597252.1_Missense_Mutation_p.G504C|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAGGCTTTACCACATTTATCA	0.408000													69	64					1.02487e-32	1.79939e-32	0.003610	1	0
ATRX	546	broad.mit.edu	37	X	76874427	76874427	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:76874427G>C	ENST00000373344.5	-	21	5509	c.5295C>G	c.(5293-5295)atC>atG	p.I1765M	ATRX_ENST00000395603.3_Missense_Mutation_p.I1727M|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1765	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTTTCCTTGATAAAATTAA	0.313000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	41					0	0	0.004482	0	0
ZNF14	7561	broad.mit.edu	37	19	19822966	19822966	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:19822966G>A	ENST00000344099.3	-	4	1262	c.1124C>T	c.(1123-1125)tCc>tTc	p.S375F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				AAGAGAAATGGACCAACTGAA	0.373000													17	116					0	0	0.004007	0	0
AP3B1	8546	broad.mit.edu	37	5	77311320	77311320	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:77311320C>A	ENST00000255194.6	-	26	3220	c.3045G>T	c.(3043-3045)caG>caT	p.Q1015H	AP3B1_ENST00000519295.1_Missense_Mutation_p.Q966H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	1015					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GAGTGAAATTCTGTGGTGCAG	0.393000									Hermansky-Pudlak syndrome				74	34					2.0493e-37	3.65379e-37	0.003610	1	0
LILRA1	11024	broad.mit.edu	37	19	55106848	55106848	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:55106848C>A	ENST00000453777.1	+	5	812	c.642C>A	c.(640-642)ctC>ctA	p.L214L	LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L214L|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	214	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCAGTGATCTCCTGGAGCTCC	0.587000													13	205					6.31663e-08	9.31298e-08	0.003163	1	0
NF1	4763	broad.mit.edu	37	17	29490331	29490331	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29490331C>G	ENST00000358273.4	+	4	799	c.416C>G	c.(415-417)tCt>tGt	p.S139C	NF1_ENST00000356175.3_Missense_Mutation_p.S139C|NF1_ENST00000431387.4_Missense_Mutation_p.S139C	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	139					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATTCTGCCTCTGGGGTTTTA	0.443000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			3	96					0	0	0.004672	0	0
THOC5	8563	broad.mit.edu	37	22	29940543	29940543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29940543C>T	ENST00000490103.1	-	3	268	c.146G>A	c.(145-147)gGc>gAc	p.G49D	THOC5_ENST00000397873.2_Missense_Mutation_p.G49D|THOC5_ENST00000397871.1_Missense_Mutation_p.G49D|THOC5_ENST00000397872.1_Missense_Mutation_p.G49D	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	49	Interaction with CSF1R (By similarity).|Interaction with THOC7.				intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATAGTCTCTGCCAGGGTCCCG	0.527000													6	157					0	0	0.001168	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224086	44224086	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:44224086C>T	ENST00000393812.3	-	3	496	c.353G>A	c.(352-354)gGg>gAg	p.G118E	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000393810.1_Intron	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	118					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACCTGGAGCCCTGTGGCACA	0.622000													86	199					0	0	0.003610	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332526	22332526	+	RNA	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:22332526C>A	ENST00000558896.1	+	0	333																											TGCTATTGTCCTGGGAAACCT	0.388000													89	768					4.92795e-40	8.90127e-40	0.003610	1	0
KCTD10	83892	broad.mit.edu	37	12	109893929	109893929	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:109893929C>A	ENST00000228495.6	-	6	998	c.717G>T	c.(715-717)caG>caT	p.Q239H	KCTD10_ENST00000540089.1_Missense_Mutation_p.Q58H|KCTD10_ENST00000424763.2_Missense_Mutation_p.Q58H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.Q213H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	239					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						TTACCTTGGTCTGTTTCTTCT	0.473000													25	62					4.7796e-09	7.12295e-09	0.004656	1	0
PCDHGA10	56106	broad.mit.edu	37	5	140795002	140795002	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140795002C>T	ENST00000398610.2	+	1	2260	c.2260C>T	c.(2260-2262)Ctg>Ttg	p.L754L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGGCTTTCCTGCAGACCTA	0.627000													83	122					0	0	0.003610	0	0
MFGE8	4240	broad.mit.edu	37	15	89453073	89453073	+	Missense_Mutation	SNP	G	G	A	rs145851768		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89453073G>A	ENST00000539437.1	-	3	267	c.131C>T	c.(130-132)tCg>tTg	p.S44L	MFGE8_ENST00000268151.7_Missense_Mutation_p.S52L|MFGE8_ENST00000566497.1_Missense_Mutation_p.S52L|MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Missense_Mutation_p.S52L			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	52	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					GCAGGTGTACGAGGGGAAGAC	0.542000													38	225					0	0	0.003755	0	0
BTN3A2	11118	broad.mit.edu	37	6	26370714	26370714	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26370714G>T	ENST00000356386.2	+	5	786	c.598G>T	c.(598-600)Ggc>Tgc	p.G200C	BTN3A2_ENST00000508906.2_Missense_Mutation_p.G158C|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G200C|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G177C|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G200C	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	200						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						AGATGGAGTGGGCCTATATGA	0.567000													67	196					2.17656e-39	3.92121e-39	0.003610	1	0
POU2F2	5452	broad.mit.edu	37	19	42597981	42597981	+	Splice_Site	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42597981C>G	ENST00000389341.5	-	12	1216	c.1150_splice	c.e12+1	p.V384_splice	POU2F2_ENST00000560398.1_Splice_Site_p.V406_splice|POU2F2_ENST00000560558.1_Splice_Site_p.V345_splice|POU2F2_ENST00000526816.2_Splice_Site_p.V400_splice|POU2F2_ENST00000529067.1_Splice_Site_p.A384_splice|POU2F2_ENST00000533720.1_Splice_Site_p.V384_splice|POU2F2_ENST00000529952.1_Splice_Site_p.V400_splice|POU2F2_ENST00000342301.4_Splice_Site_p.V400_splice	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	400					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CCTCCCTGACCTGTTGTGCTC	0.607000													15	250					0	0	0.008871	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(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)			ACTGGACGCAGGcagcagcag	0.657000													3	30					0	0	0.000248	0	0
MYNN	55892	broad.mit.edu	37	3	169492266	169492266	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:169492266C>G	ENST00000349841.5	+	2	846	c.183C>G	c.(181-183)gtC>gtG	p.V61V	MYNN_ENST00000544106.1_Silent_p.V61V|MYNN_ENST00000392733.1_Silent_p.V61V|MYNN_ENST00000356716.4_Silent_p.V61V	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	61	BTB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AGAACAATGTCTTTCTTGATC	0.388000													5	380					0	0	0.000602	0	0
SCN9A	6335	broad.mit.edu	37	2	167056097	167056097	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:167056097A>G	ENST00000303354.6	-	27	5395	c.5055T>C	c.(5053-5055)ttT>ttC	p.F1685F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Silent_p.F1673F|SCN9A_ENST00000409435.1_Silent_p.F1684F|SCN9A_ENST00000375387.4_Silent_p.F1685F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1684						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TACTGTTGCCAAAGGTCTCAA	0.423000													97	277					0	0	0.003610	0	0
SLC39A9	55334	broad.mit.edu	37	14	69919976	69919976	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:69919976C>G	ENST00000031146.4	+	3	902	c.224C>G	c.(223-225)tCt>tGt	p.S75C	SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000556605.1_Missense_Mutation_p.S141C|SLC39A9_ENST00000557046.1_Intron|SLC39A9_ENST00000336643.5_Missense_Mutation_p.S141C			Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	90					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		GCAGCAAGGTCTAGCAATTCC	0.453000													7	199					0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240635698	240635698	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240635698G>A	ENST00000319653.9	+	17	5317	c.5087G>A	c.(5086-5088)aGa>aAa	p.R1696K	FMN2_ENST00000545751.1_Missense_Mutation_p.R292K|FMN2_ENST00000496950.1_3'UTR|FMN2_ENST00000543681.1_Missense_Mutation_p.R16K|AL646016.1_ENST00000596886.1_Intron	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1696	FH2.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGTGTGTAGACAGAAGAAA	0.328000													23	76					0	0	0.002096	0	0
HUWE1	10075	broad.mit.edu	37	X	53634558	53634558	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:53634558G>A	ENST00000342160.3	-	24	2879	c.2422C>T	c.(2422-2424)Ctt>Ttt	p.L808F	HUWE1_ENST00000218328.8_Missense_Mutation_p.L808F|HUWE1_ENST00000262854.6_Missense_Mutation_p.L808F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	808					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGATTGGGAAGACCCAAAATG	0.438000													10	92					0	0	0.008291	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24884718	24884718	+	Nonsense_Mutation	SNP	G	G	A	rs149363020		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:24884718G>A	ENST00000396432.2	-	19	4126	c.3640C>T	c.(3640-3642)Cga>Tga	p.R1214*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R1001*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1213	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCAAATCTCGCCATTTCTAG	0.358000													27	55					0	0	0.005443	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281892	49281892	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:49281892G>T	ENST00000282018.3	+	1	942	c.939G>T	c.(937-939)aaG>aaT	p.K313N		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	313					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	AGAATTTTAAGGACAGACTAA	0.443000													55	50					1.67753e-36	2.98323e-36	0.003610	1	0
TTC16	158248	broad.mit.edu	37	9	130485521	130485521	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:130485521C>T	ENST00000373289.3	+	7	861	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	TTC16_ENST00000393748.4_Silent_p.L85L|PTRH1_ENST00000429848.1_Intron|PTRH1_ENST00000419060.1_Intron|TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	261							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						TGCGGGGATCCTGGCTGTGCA	0.632000													41	22					0	0	0.007835	0	0
SLC5A12	159963	broad.mit.edu	37	11	26742938	26742938	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:26742938G>A	ENST00000396005.3	-	1	633	c.324C>T	c.(322-324)atC>atT	p.I108I	SLC5A12_ENST00000280467.6_Silent_p.I108I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	108					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAGTGCTGGTGATACCAGATC	0.408000													20	40					0	0	0.001882	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719457	140719457	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140719457C>T	ENST00000394576.2	+	1	919	c.919C>T	c.(919-921)Cta>Tta	p.L307L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATAAAAGATCTAGATTATGA	0.423000													12	255					0	0	0.002450	0	0
FRAS1	80144	broad.mit.edu	37	4	79285132	79285132	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:79285132C>G	ENST00000264895.6	+	22	3086	c.2646C>G	c.(2644-2646)ctC>ctG	p.L882L	FRAS1_ENST00000325942.6_Silent_p.L882L	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	882					cell communication	integral to membrane|plasma membrane	metal ion binding	p.L882L(2)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACACCAACCTCGTGCTGTCCC	0.527000													4	29					0	0	0.000248	0	0
USB1	79650	broad.mit.edu	37	16	58043902	58043902	+	Missense_Mutation	SNP	G	G	A	rs142683238	byFrequency	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:58043902G>A	ENST00000219281.3	+	3	446	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	USB1_ENST00000423271.3_Missense_Mutation_p.R112Q|USB1_ENST00000563149.1_Missense_Mutation_p.R112Q|USB1_ENST00000565662.1_3'UTR|USB1_ENST00000539737.2_Missense_Mutation_p.R112Q|USB1_ENST00000561743.1_Missense_Mutation_p.R61Q	NM_024598.3	NP_078874.2			U6 snRNA biogenesis 1																		TATGTCCCCCGGCTGGTAAGG	0.592000													9	260					0	0	0.006214	0	0
TLN1	7094	broad.mit.edu	37	9	35706887	35706887	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:35706887G>C	ENST00000314888.9	-	38	5319	c.4966C>G	c.(4966-4968)Cca>Gca	p.P1656A	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.P1656A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1656	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGCTGCCCTGGAGCCTTGTCC	0.582000													4	116					0	0	0.000602	0	0
DAXX	1616	broad.mit.edu	37	6	33287564	33287564	+	Silent	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:33287564G>C	ENST00000374542.5	-	6	1737	c.1533C>G	c.(1531-1533)ggC>ggG	p.G511G	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.G436G|DAXX_ENST00000266000.6_Silent_p.G511G	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	511	Asp/Glu-rich (acidic).|Interaction with MAP3K5.|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TGATCTGTTTGCCAGGTTCCA	0.502000			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM								9	118					0	0	0.006214	0	0
FRMD4B	23150	broad.mit.edu	37	3	69239050	69239050	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:69239050C>T	ENST00000542259.1	-	19	2057	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	FRMD4B_ENST00000398540.3_Missense_Mutation_p.D590N|FRMD4B_ENST00000478263.1_Missense_Mutation_p.D242N			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	590						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACTTACGATCATCATAGGTG	0.313000													16	27					0	0	0.004990	0	0
OR8H2	390151	broad.mit.edu	37	11	55872670	55872670	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872670G>T	ENST00000313503.1	+	1	152	c.152G>T	c.(151-153)cGc>cTc	p.R51L		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428000										HNSCC(53;0.14)			80	277					5.42582e-32	9.47801e-32	0.003610	1	0
ELP2	55250	broad.mit.edu	37	18	33750144	33750144	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:33750144T>G	ENST00000358232.6	+	20	2258	c.2195T>G	c.(2194-2196)cTc>cGc	p.L732R	ELP2_ENST00000442325.2_Missense_Mutation_p.L797R|ELP2_ENST00000542824.1_Missense_Mutation_p.L662R|ELP2_ENST00000351393.6_Missense_Mutation_p.L706R|ELP2_ENST00000350494.6_Missense_Mutation_p.L727R|ELP2_ENST00000423854.2_Missense_Mutation_p.L662R	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	732					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGCCCAGTGCTCCACCCTTCT	0.512000													54	98					0	0	0.003610	0	0
GJD2	57369	broad.mit.edu	37	15	35045073	35045073	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:35045073C>A	ENST00000290374.4	-	2	1048	c.572G>T	c.(571-573)aGg>aTg	p.R191M		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	191					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.R191K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCCTTCCTGCCTTCTGAGCTT	0.478000													91	142					2.06477e-34	3.65305e-34	0.003610	1	0
USP54	159195	broad.mit.edu	37	10	75277422	75277422	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75277422G>C	ENST00000339859.4	-	19	2862	c.2762C>G	c.(2761-2763)tCt>tGt	p.S921C	RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.S9C|USP54_ENST00000428547.1_Missense_Mutation_p.S771C|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.S103C|USP54_ENST00000408019.1_Missense_Mutation_p.S921C|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	921					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					ATGGAAGAAAGAACTGGCCCC	0.512000													18	87					0	0	0.004990	0	0
MUC17	140453	broad.mit.edu	37	7	100677694	100677694	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100677694G>T	ENST00000306151.4	+	3	3061	c.2997G>T	c.(2995-2997)gaG>gaT	p.E999D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	999	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCAATTCTGAGGCTAGCACCC	0.522000													307	339					9.82643e-173	1.84245e-172	0.003610	1	0
SLC12A1	6557	broad.mit.edu	37	15	48577394	48577394	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48577394C>T	ENST00000396577.3	+	21	2792	c.2577C>T	c.(2575-2577)ggC>ggT	p.G859G	SLC12A1_ENST00000380993.3_Silent_p.G859G|SLC12A1_ENST00000558405.1_Silent_p.G859G	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	859					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCATCCGAGGCTTGTTTAAAA	0.363000													66	131					0	0	0.003610	0	0
OR5L2	26338	broad.mit.edu	37	11	55595390	55595390	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55595390G>T	ENST00000378397.1	+	1	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACTCTGCAGAGAGCAGGCACA	0.493000										HNSCC(27;0.073)			61	130					3.21867e-24	5.47016e-24	0.003610	1	0
HSPA4L	22824	broad.mit.edu	37	4	128743942	128743942	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128743942G>T	ENST00000296464.3	+	15	2242	c.1831G>T	c.(1831-1833)Gat>Tat	p.D611Y	HSPA4L_ENST00000439123.2_Missense_Mutation_p.D642Y|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D611Y|HSPA4L_ENST00000505726.1_Missense_Mutation_p.D585Y	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	611					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATGCAAGATAAGTTAGA	0.348000													16	26					4.7546e-09	7.11644e-09	0.004007	1	0
SYN2	6854	broad.mit.edu	37	3	12208791	12208791	+	RNA	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:12208791G>C	ENST00000432424.2	+	0	1210							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTGGAGCAGATTGCCATGT	0.517000													6	31					0	0	0.001984	0	0
ATP12A	479	broad.mit.edu	37	13	25263504	25263504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:25263504G>C	ENST00000218548.6	+	5	870	c.537G>C	c.(535-537)atG>atC	p.M179I	ATP12A_ENST00000381946.3_Missense_Mutation_p.M179I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	179					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCAATAAGATGATCCCTCAGG	0.552000													20	124					0	0	0.001523	0	0
NBEAL2	23218	broad.mit.edu	37	3	47049354	47049354	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049354C>G	ENST00000450053.3	+	49	7735	c.7556C>G	c.(7555-7557)tCa>tGa	p.S2519*	NBEAL2_ENST00000383740.2_Nonsense_Mutation_p.S768*|NBEAL2_ENST00000292309.5_Nonsense_Mutation_p.S2335*	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2519							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TACCTCATCTCAGGCTCCCGG	0.632000													12	26					0	0	0.002450	0	0
MRAP	56246	broad.mit.edu	37	21	33671361	33671361	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:33671361G>C	ENST00000399784.2	+	3	266	c.79G>C	c.(79-81)Gac>Cac	p.D27H	MRAP_ENST00000303645.5_Missense_Mutation_p.D27H|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000399786.3_Missense_Mutation_p.D27H|MRAP_ENST00000339944.4_Missense_Mutation_p.D27H	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	27					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						CATTCCCGTGGACGAGAAGAA	0.582000													8	91					0	0	0.004482	0	0
ANKRD44	91526	broad.mit.edu	37	2	197863757	197863757	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:197863757C>A	ENST00000328737.2	-	24	2540	c.2464G>T	c.(2464-2466)Gca>Tca	p.A822S	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A822S|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A822S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A839S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	847							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCAGCAAATGCTGCCGCATGA	0.438000													18	87					5.35267e-07	7.85817e-07	0.007413	1	0
DMP1	1758	broad.mit.edu	37	4	88584164	88584164	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:88584164C>T	ENST00000339673.6	+	6	1333	c.1234C>T	c.(1234-1236)Ctc>Ttc	p.L412F	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Missense_Mutation_p.L396F	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	412					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		CAGTGAGAGCCTCAACTTCTC	0.572000													58	59					0	0	0.003610	0	0
OR2W5	441932	broad.mit.edu	37	1	247655015	247655015	+	RNA	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247655015G>T	ENST00000522351.1	+	0	646							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CATGCTGGTAGAAGCGATTCA	0.587000													81	146					4.41824e-40	8.02259e-40	0.003610	1	0
C20orf194	25943	broad.mit.edu	37	20	3324338	3324338	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:3324338T>A	ENST00000252032.9	-	9	897	c.830A>T	c.(829-831)cAt>cTt	p.H277L		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	277										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTCAGTTATATGGCTAGAGAT	0.388000													292	252					0	0	0.003610	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883457	4883457	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:4883457C>A	ENST00000361571.5	-	8	1568	c.1157G>T	c.(1156-1158)gGc>gTc	p.G386V	CAMTA2_ENST00000358183.4_Missense_Mutation_p.G387V|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G389V|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G392V|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G410V|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G387V	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	387					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATATGTCTGGCCCCTCTGGGG	0.617000													28	79					4.7796e-09	7.12295e-09	0.004656	1	0
UNC5D	137970	broad.mit.edu	37	8	35624547	35624547	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35624547A>G	ENST00000287272.2	+	14	2254	c.2234A>G	c.(2233-2235)cAt>cGt	p.H745R	UNC5D_ENST00000449677.1_Missense_Mutation_p.H390R|UNC5D_ENST00000404895.2_Missense_Mutation_p.H814R|UNC5D_ENST00000416672.1_Missense_Mutation_p.H819R|UNC5D_ENST00000420357.1_Missense_Mutation_p.H747R|UNC5D_ENST00000453357.2_Missense_Mutation_p.H809R			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	814					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTCAAAGGCCATGAACAGATC	0.507000													93	121					0	0	0.003610	0	0
SLC23A2	9962	broad.mit.edu	37	20	4865411	4865411	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:4865411G>A	ENST00000379333.1	-	8	1022	c.630C>T	c.(628-630)ccC>ccT	p.P210P	SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Silent_p.P210P|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	210					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTCGGATCCGGGGATACCAGA	0.418000													54	180					0	0	0.003610	0	0
RFX1	5989	broad.mit.edu	37	19	14090331	14090331	+	Silent	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:14090331T>A	ENST00000254325.4	-	7	996	c.762A>T	c.(760-762)ccA>ccT	p.P254P		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	254					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGGGCGCTTGTGGAGTGGCCT	0.642000													38	120					0	0	0.005524	0	0
PAK2	5062	broad.mit.edu	37	3	196509690	196509690	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:196509690C>T	ENST00000327134.3	+	2	495	c.173C>T	c.(172-174)tCa>tTa	p.S58L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	58					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TCCATATTCTCAGGCACAGAG	0.413000													32	377					0	0	0.002096	0	0
CHDC2	286464	broad.mit.edu	37	X	36162677	36162677	+	Splice_Site	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:36162677G>C	ENST00000378660.1	+	11	1448		c.e11-1		CHDC2_ENST00000313548.4_Splice_Site					calponin homology domain containing 2																		tttgtttctaggtgtgtctga	0.413000													47	74					0	0	0.003610	0	0
MYO19	80179	broad.mit.edu	37	17	34863652	34863652	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:34863652C>G	ENST00000431794.3	-	15	1865	c.1343G>C	c.(1342-1344)aGg>aCg	p.R448T	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	448	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTGCTGGGCCCTTAGGTAGTG	0.512000													14	29					0	0	0.002450	0	0
MALSU1	115416	broad.mit.edu	37	7	23348989	23348989	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:23348989C>T	ENST00000466681.1	+	4	685	c.532C>T	c.(532-534)Cat>Tat	p.H178Y		NM_138446.1	NP_612455.1	Q96EH3	CG030_HUMAN	mitochondrial assembly of ribosomal large subunit 1	178						mitochondrion											CATGGTGATTCATTTGATGCT	0.398000													39	127					0	0	0.005524	0	0
TET1	80312	broad.mit.edu	37	10	70406353	70406353	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:70406353G>A	ENST00000373644.4	+	4	4076	c.3867G>A	c.(3865-3867)acG>acA	p.T1289T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1289					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TACAGTTAACGGTGAATGCCA	0.458000													8	166					0	0	0.006214	0	0
KCNN2	3781	broad.mit.edu	37	5	113831600	113831600	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:113831600C>T	ENST00000512097.3	+	9	2479	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	KCNN2_ENST00000264773.3_Silent_p.N487N|KCNN2_ENST00000503706.1_Silent_p.N139N|RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000507750.1_3'UTR			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	487	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AGACCCAGAACATCATGTATG	0.408000													40	125					0	0	0.006999	0	0
MYO10	4651	broad.mit.edu	37	5	16783479	16783479	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:16783479C>A	ENST00000513610.1	-	5	1021	c.567G>T	c.(565-567)aaG>aaT	p.K189N		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	189	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACAGGATGTCTTCTCCTTTA	0.378000													9	23					1.76689e-08	2.62184e-08	0.006214	1	0
NAALADL2	254827	broad.mit.edu	37	3	174814867	174814867	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174814867A>T	ENST00000454872.1	+	2	459	c.331A>T	c.(331-333)Aca>Tca	p.T111S	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	111					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TACCCATTATACACGATCTGC	0.388000													58	233					0	0	0.003610	0	0
FIBP	9158	broad.mit.edu	37	11	65651446	65651446	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:65651446C>T	ENST00000338369.2	-	10	1206	c.1094G>A	c.(1093-1095)tGa>tAa	p.*365*	FIBP_ENST00000357519.4_Silent_p.*358*|FIBP_ENST00000533045.1_3'UTR	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	0					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		GGAGGCACCTCAGTCATGATA	0.602000											OREG0021089	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	77					0	0	0.001368	0	0
PIGR	5284	broad.mit.edu	37	1	207110641	207110641	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:207110641C>A	ENST00000356495.4	-	4	1027	c.844G>T	c.(844-846)Gtc>Ttc	p.V282F		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	282	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTGTTGACGACCACGTCACAG	0.602000													39	96					1.07121e-22	1.79401e-22	0.006999	1	0
HIST2H2AB	317772	broad.mit.edu	37	1	149859080	149859080	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149859080G>T	ENST00000331128.3	-	1	386	c.387C>A	c.(385-387)aaC>aaA	p.N129K		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	129					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TTAATTACTTGTTCTTGCCAG	0.498000													67	86					7.59065e-32	1.31928e-31	0.003610	1	0
MITD1	129531	broad.mit.edu	37	2	99787024	99787024	+	Missense_Mutation	SNP	G	G	A	rs144672860		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:99787024G>A	ENST00000289359.2	-	5	645	c.569C>T	c.(568-570)tCt>tTt	p.S190F	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	190					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ATGTATTGAAGAAGAGTATTG	0.333000													105	264					0	0	0.003610	0	0
ALG11	440138	broad.mit.edu	37	13	52593200	52593200	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:52593200G>A	ENST00000521508.1	+	2	201	c.196G>A	c.(196-198)Gca>Aca	p.A66T	ALG11_ENST00000523764.1_Intron	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		AATGGTGATTGCATTTTTTCA	0.393000													31	32					0	0	0.002445	0	0
GATA3	2625	broad.mit.edu	37	10	8100437	8100437	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						51	120					0	0	0.003610	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413000													4	219					0	0	0.000248	0	0
NF1	4763	broad.mit.edu	37	17	29528502	29528502	+	Splice_Site	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29528502A>T	ENST00000358273.4	+	11	1642	c.1260_splice	c.e11+1	p.N420_splice	NF1_ENST00000356175.3_Splice_Site_p.N420_splice|NF1_ENST00000431387.4_Splice_Site_p.N420_splice	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	420					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCATCACCAATGTAAGTCCA	0.313000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			148	90					0	0	0.003610	0	0
OR2A25	392138	broad.mit.edu	37	7	143772094	143772094	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:143772094C>A	ENST00000408898.2	+	1	820	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TATGTTGAGCCCCAGTATGAG	0.488000													135	168					2.4537e-52	4.50279e-52	0.003610	1	0
ARHGAP15	55843	broad.mit.edu	37	2	143986215	143986215	+	Missense_Mutation	SNP	A	A	G	rs150643555		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:143986215A>G	ENST00000409869.1	+	6	539	c.362A>G	c.(361-363)aAg>aGg	p.K121R	ARHGAP15_ENST00000295095.6_Missense_Mutation_p.K121R			Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	121	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		AAAGAATCCAAGCAACAGGCT	0.299000													37	62					0	0	0.006230	0	0
AGER	177	broad.mit.edu	37	6	32148952	32148952	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32148952C>T	ENST00000375076.4	-	11	1284	c.1183G>A	c.(1183-1185)Gag>Aag	p.E395K	RNF5_ENST00000427134.2_Intron|AGER_ENST00000375055.2_3'UTR|AGER_ENST00000375070.3_Missense_Mutation_p.E426K|AGER_ENST00000438221.2_3'UTR|AGER_ENST00000375067.3_Silent_p.*343*|AGER_ENST00000375069.3_Missense_Mutation_p.E285K|AGER_ENST00000375065.5_3'UTR	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	395					cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCGCCTGCCTCAGGTTCCTCC	0.557000													7	438					0	0	0.004482	0	0
CPA4	51200	broad.mit.edu	37	7	129948163	129948163	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:129948163A>C	ENST00000222482.4	+	8	747	c.719A>C	c.(718-720)aAg>aCg	p.K240T	CPA4_ENST00000445470.2_Missense_Mutation_p.K207T|CPA4_ENST00000493259.1_Missense_Mutation_p.K136T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	240					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TTATGGAGGAAGACGCGGTCC	0.537000													31	40					0	0	0.004289	0	0
AOC1	26	broad.mit.edu	37	7	150557669	150557669	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:150557669C>A	ENST00000493429.1	+	6	2521	c.1937C>A	c.(1936-1938)cCg>cAg	p.P646Q	AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.P665Q|AOC1_ENST00000360937.4_Missense_Mutation_p.P646Q|AOC1_ENST00000467291.1_Missense_Mutation_p.P646Q					amine oxidase, copper containing 1																		CCCTGGCACCCGCCCGTGGTC	0.617000													81	73					1.3515e-34	2.39726e-34	0.003610	1	0
PABPC5	140886	broad.mit.edu	37	X	90690736	90690736	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:90690736G>T	ENST00000312600.3	+	2	374	c.160G>T	c.(160-162)Gtg>Ttg	p.V54L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	54	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CCGTGATCCGGTGACCCGCAG	0.537000													14	17					1.36491e-13	2.12115e-13	0.001855	1	0
OR2AK2	391191	broad.mit.edu	37	1	248129228	248129228	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248129228C>A	ENST00000366480.3	+	1	694	c.595C>A	c.(595-597)Cta>Ata	p.L199I	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGTTCCAGCTCTACTATCATT	0.428000													12	114					3.07112e-06	4.47061e-06	0.000978	1	0
TTN	7273	broad.mit.edu	37	2	179452324	179452324	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179452324G>A	ENST00000589042.1	-	306	63936	c.63712C>T	c.(63712-63714)Cgt>Tgt	p.R21238C	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R12173C|TTN_ENST00000342992.6_Missense_Mutation_p.R18670C|TTN_ENST00000342175.6_Missense_Mutation_p.R12365C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R19597C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R12298C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19597	Fibronectin type-III 54.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCATCACGGGTAGAATTG	0.413000													17	63					0	0	0.004990	0	0
PTPN21	11099	broad.mit.edu	37	14	88983571	88983571	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:88983571T>G	ENST00000556564.1	-	3	499	c.215A>C	c.(214-216)cAa>cCa	p.Q72P	PTPN21_ENST00000328736.3_Missense_Mutation_p.Q72P|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	72	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCTGATTTTGCTTGTTGTA	0.423000													50	112					0	0	0.003610	0	0
TYW1	55253	broad.mit.edu	37	7	66479523	66479523	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66479523C>T	ENST00000359626.5	+	5	709	c.545C>T	c.(544-546)tCt>tTt	p.S182F		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	182	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGGAAATTCTGCCTATGCT	0.418000													63	293					0	0	0.003610	0	0
NPAT	4863	broad.mit.edu	37	11	108043717	108043717	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:108043717G>A	ENST00000278612.8	-	13	2099	c.1994C>T	c.(1993-1995)tCt>tTt	p.S665F		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	665					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TTCTTTTACAGAAGATGAAGG	0.393000													5	78					0	0	0.000602	0	0
OSBP2	23762	broad.mit.edu	37	22	31091189	31091189	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:31091189C>T	ENST00000332585.6	+	1	397	c.293C>T	c.(292-294)tCg>tTg	p.S98L	OSBP2_ENST00000403222.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S98L|OSBP2_ENST00000382310.3_Missense_Mutation_p.S98L|OSBP2_ENST00000407373.1_Intron	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	98					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GGGCAGCCATCGGAACTGCTG	0.667000													9	76					0	0	0.008291	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15326473	15326473	+	RNA	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:15326473T>A	ENST00000344693.5	-	0	736					NR_027270.1																						GACACACTGCTAAGGTAGTAT	0.373000													40	159					0	0	0.007835	0	0
CCDC18	343099	broad.mit.edu	37	1	93672782	93672782	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:93672782G>C	ENST00000343253.7	+	9	1538	c.1036G>C	c.(1036-1038)Gag>Cag	p.E346Q	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000557479.1_Missense_Mutation_p.E464Q|CCDC18_ENST00000338949.4_Missense_Mutation_p.E145Q|CCDC18_ENST00000401026.3_Missense_Mutation_p.E346Q			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	346										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GCTAGAGAGTGAGTTAGAGAA	0.353000													7	36					0	0	0.001984	0	0
FAAH2	158584	broad.mit.edu	37	X	57313310	57313310	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:57313310G>A	ENST00000374900.4	+	1	172	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	18						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GCGGGCGCTAGGCTTTCTCAT	0.562000										HNSCC(52;0.14)			8	31					0	0	0.003080	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347910	140347910	+	Missense_Mutation	SNP	C	C	T	rs148804197		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140347910C>T	ENST00000289269.5	+	1	2091	c.1559C>T	c.(1558-1560)tCc>tTc	p.S520F	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHAC1_ENST00000253807.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		520	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGTCACCTCCTATGTCTCC	0.507000													6	102					0	0	0.001168	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281893	49281893	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:49281893G>T	ENST00000282018.3	+	1	943	c.940G>T	c.(940-942)Gac>Tac	p.D314Y		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	314					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	GAATTTTAAGGACAGACTAAA	0.443000													56	50					1.0331e-37	1.84672e-37	0.003610	1	0
TRIM58	25893	broad.mit.edu	37	1	248039588	248039588	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248039588G>A	ENST00000366481.3	+	6	1306	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	420	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTATGAAGCCGGTGAAATTTC	0.448000													124	220					0	0	0.003610	0	0
DSCAM	1826	broad.mit.edu	37	21	42080487	42080487	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:42080487G>A	ENST00000400454.1	-	2	731	c.254C>T	c.(253-255)cCc>cTc	p.P85L		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	85	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AGGAGGGAAGGGGAAAATTTG	0.498000													5	110					0	0	0.000602	0	0
PLXNB2	23654	broad.mit.edu	37	22	50718166	50718166	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:50718166T>A	ENST00000449103.1	-	27	4422	c.4282A>T	c.(4282-4284)Atc>Ttc	p.I1428F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.I1428F			O15031	PLXB2_HUMAN	plexin B2	1428					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGATGTTTGATGGCCTTGAAG	0.622000													116	223					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	215848133	215848133	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:215848133C>T	ENST00000366943.2	-	63	13506	c.13120G>A	c.(13120-13122)Gta>Ata	p.V4374I	USH2A_ENST00000307340.3_Missense_Mutation_p.V4374I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4374	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACCAACATACATTCATTTGA	0.488000										HNSCC(13;0.011)			27	61					0	0	0.004656	0	0
SCN1A	6323	broad.mit.edu	37	2	166847776	166847776	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:166847776A>T	ENST00000423058.2	-	26	6026	c.6009T>A	c.(6007-6009)gaT>gaA	p.D2003E	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1975E|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.D2003E|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1992E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	2003						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGGCTTTTTCATCTTTGCCTT	0.383000													28	43					0	0	0.005443	0	0
NLRP12	91662	broad.mit.edu	37	19	54318203	54318203	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:54318203G>C	ENST00000324134.6	-	2	497	c.329C>G	c.(328-330)tCa>tGa	p.S110*	NLRP12_ENST00000535162.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000345770.5_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391773.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391772.1_Nonsense_Mutation_p.S110*|NLRP12_ENST00000391775.3_Nonsense_Mutation_p.S110*|NLRP12_ENST00000354278.3_Nonsense_Mutation_p.S110*|NLRP12_ENST00000351894.4_Nonsense_Mutation_p.S110*	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	110					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AAGGCATGTTGACTGGTTCCC	0.517000													15	127					0	0	0.004007	0	0
NAV3	89795	broad.mit.edu	37	12	78444768	78444768	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:78444768G>A	ENST00000397909.2	+	11	2530	c.2357G>A	c.(2356-2358)cGt>cAt	p.R786H	NAV3_ENST00000536525.2_Missense_Mutation_p.R786H|NAV3_ENST00000228327.6_Missense_Mutation_p.R786H|NAV3_ENST00000266692.7_Missense_Mutation_p.R786H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	786						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACGCCTCTCCGTCGAGCTGCT	0.557000										HNSCC(70;0.22)			17	40					0	0	0.004990	0	0
FLG	2312	broad.mit.edu	37	1	152283008	152283008	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152283008C>G	ENST00000368799.1	-	3	4389	c.4354G>C	c.(4354-4356)Gag>Cag	p.E1452Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1452	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTGGACTCAGACTGTTCA	0.572000									Ichthyosis				10	608					0	0	0.008291	0	0
MAP2K1	5604	broad.mit.edu	37	15	66777514	66777514	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:66777514G>A	ENST00000307102.5	+	7	1411	c.880G>A	c.(880-882)Ggg>Agg	p.G294R	MAP2K1_ENST00000566326.1_Missense_Mutation_p.G118R	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	294	Pro-rich.|Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AAGGACCCCCGGGAGGCCCCT	0.607000													21	79					0	0	0.008871	0	0
KRT25	147183	broad.mit.edu	37	17	38906822	38906822	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906822C>A	ENST00000312150.4	-	6	1045	c.985G>T	c.(985-987)Gag>Tag	p.E329*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	329	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCTCGGTCTCTGTCAAGGAG	0.527000													64	311					7.75977e-34	1.36937e-33	0.003610	1	0
ACBD7	414149	broad.mit.edu	37	10	15120601	15120601	+	Splice_Site	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:15120601C>A	ENST00000356189.5	-	4	242	c.193_splice	c.e4-1	p.G65_splice	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	65	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						CCGTCGACAACCCTAGAAAGA	0.363000													56	115					4.48484e-38	8.05869e-38	0.003610	1	0
METTL16	79066	broad.mit.edu	37	17	2323539	2323539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:2323539C>A	ENST00000263092.5	-	10	1541	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*	METTL16_ENST00000538844.1_Nonsense_Mutation_p.G254*|METTL16_ENST00000571669.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	472							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						TCCACCCCTCCCTTTTCCTCA	0.617000													95	281					6.44939e-38	1.15586e-37	0.003610	1	0
ZNF385B	151126	broad.mit.edu	37	2	180383318	180383318	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180383318G>T	ENST00000410066.1	-	5	1047	c.444C>A	c.(442-444)tcC>tcA	p.S148S	ZNF385B_ENST00000409343.1_Silent_p.S72S|ZNF385B_ENST00000409692.1_Silent_p.S46S|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Silent_p.S46S	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	148						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTGGGGGAATGGATACTCCAA	0.343000													72	126					4.38973e-58	8.0987e-58	0.003610	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	104					0	0	0.000248	0	0
OR2T4	127074	broad.mit.edu	37	1	248525904	248525904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248525904C>T	ENST00000366475.1	+	1	1022	c.1022C>T	c.(1021-1023)cCt>cTt	p.P341L		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	341					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTGGAACCTGCCTTTCAA	0.393000													5	238					0	0	0.000602	0	0
SCAND3	114821	broad.mit.edu	37	6	28541503	28541503	+	Silent	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:28541503A>C	ENST00000452236.2	-	4	2780	c.2163T>G	c.(2161-2163)ccT>ccG	p.P721P		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	721					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tcccttcttcaggataacttc	0.348000													4	34					0	0	0.000602	0	0
SLC35G1	159371	broad.mit.edu	37	10	95658490	95658490	+	Missense_Mutation	SNP	C	C	A	rs78174634		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:95658490C>A	ENST00000371408.3	+	2	399	c.338C>A	c.(337-339)cCt>cAt	p.P113H	SLC35G1_ENST00000427197.1_Missense_Mutation_p.P114H			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	114	DUF6 1.					integral to membrane											GTTGTTATCCCTTGCTTAATA	0.338000													4	47					0.000602214	0.00084975	0.000602	1	0
KRT25	147183	broad.mit.edu	37	17	38906696	38906696	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38906696C>G	ENST00000312150.4	-	6	1171	c.1111G>C	c.(1111-1113)Gac>Cac	p.D371H		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	371	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.D371N(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGCTTGATGTCCAGGAGCTGC	0.527000													91	337					0	0	0.003610	0	0
SPATA5	166378	broad.mit.edu	37	4	123855336	123855336	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123855336G>T	ENST00000274008.3	+	5	659	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	197					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CGAGTGAAAGGGGCAGATGGC	0.463000													30	42					1.80694e-10	2.74624e-10	0.001786	1	0
PARD6A	50855	broad.mit.edu	37	16	67694944	67694944	+	Translation_Start_Site	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67694944G>C	ENST00000458121.2	+	1	94	c.3G>C	c.(1-3)atG>atC	p.M1I	PARD6A_ENST00000602551.1_Start_Codon_SNP_p.M1I|PARD6A_ENST00000219255.3_Start_Codon_SNP_p.M1I	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	1	Interaction with PRKCI and PRKCZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		gccccgccATGGCCCGGCCGC	0.781000													23	47					0	0	0.002780	0	0
RNF40	9810	broad.mit.edu	37	16	30779633	30779633	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30779633G>A	ENST00000324685.6	+	13	2196	c.1761G>A	c.(1759-1761)gaG>gaA	p.E587E	RNF40_ENST00000563683.1_Silent_p.E547E|RNF40_ENST00000357890.5_Silent_p.E487E|RNF40_ENST00000402121.3_Silent_p.E279E	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	587					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CCTCTGAAGAGGACTTCCAGG	0.622000													15	28					0	0	0.003163	0	0
SORL1	6653	broad.mit.edu	37	11	121476228	121476228	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:121476228C>G	ENST00000260197.7	+	35	5025	c.4896C>G	c.(4894-4896)ctC>ctG	p.L1632L	SORL1_ENST00000534286.1_Silent_p.L542L|SORL1_ENST00000527934.1_Silent_p.L247L|SORL1_ENST00000525532.1_Silent_p.L576L|SORL1_ENST00000532694.1_Silent_p.L478L	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1632	Fibronectin type-III 1.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCAGTGTCTCAGCAAGGCAC	0.443000													29	357					0	0	0.002096	0	0
PTPN22	26191	broad.mit.edu	37	1	114397643	114397643	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:114397643T>C	ENST00000359785.5	-	8	704	c.569A>G	c.(568-570)tAc>tGc	p.Y190C	PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Y190C|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.Y190C	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	190	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAATTCTTGTAATGAAACTG	0.438000													30	36					0	0	0.001786	0	0
EDC4	23644	broad.mit.edu	37	16	67913615	67913615	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:67913615G>T	ENST00000358933.5	+	15	1998	c.1759G>T	c.(1759-1761)Gag>Tag	p.E587*	EDC4_ENST00000574770.1_3'UTR	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	587					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TCTGAGCAGTGAGACCAAGCC	0.632000													7	231					0.000274275	0.000389403	0.004482	1	0
CD5L	922	broad.mit.edu	37	1	157803289	157803289	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:157803289C>G	ENST00000368174.4	-	5	828	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	244	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)			CTACTAGTCTCAAGTCAAAGG	0.478000													4	208					0	0	0.000248	0	0
MFSD8	256471	broad.mit.edu	37	4	128865017	128865017	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128865017G>C	ENST00000296468.3	-	5	456	c.329C>G	c.(328-330)tCc>tGc	p.S110C	MFSD8_ENST00000513559.1_Missense_Mutation_p.S65C|MFSD8_ENST00000541133.1_Missense_Mutation_p.S65C|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	110					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AATCAAGATGGAGACAATAAG	0.423000													3	75					0	0	0.004672	0	0
USP9X	8239	broad.mit.edu	37	X	41069829	41069829	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:41069829G>T	ENST00000324545.7	+	33	5716	c.5083G>T	c.(5083-5085)Gat>Tat	p.D1695Y	USP9X_ENST00000378308.2_Missense_Mutation_p.D1695Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1695					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCATTGGTGGATAGTTTAGA	0.388000													43	36					1.22674e-20	2.01536e-20	0.008740	1	0
BAI3	577	broad.mit.edu	37	6	70071204	70071204	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:70071204C>A	ENST00000370598.1	+	29	4860	c.4039C>A	c.(4039-4041)Cct>Act	p.P1347T	BAI3_ENST00000546190.1_Missense_Mutation_p.P311T|BAI3_ENST00000238918.8_Missense_Mutation_p.P553T	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1347					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CAAAGTAAACCCTGAATTCAA	0.403000													77	122					7.97268e-31	1.3822e-30	0.003610	1	0
NTSR2	23620	broad.mit.edu	37	2	11809734	11809734	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:11809734C>A	ENST00000306928.5	-	1	556	c.522G>T	c.(520-522)atG>atT	p.M174I		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	174					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GCTTCTGCCCCATGATGACGG	0.721000													19	14					2.94398e-08	4.35912e-08	0.007413	1	0
SDE2	163859	broad.mit.edu	37	1	226176001	226176001	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:226176001T>C	ENST00000272091.7	-	6	748	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	SDE2_ENST00000366817.1_Missense_Mutation_p.M149V	NM_152608.3	NP_689821.3			SDE2 telomere maintenance homolog (S. pombe)																		TGGAAACCCATTCCTGAAGTG	0.498000													92	204					0	0	0.003610	0	0
GANC	2595	broad.mit.edu	37	15	42632035	42632035	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:42632035G>T	ENST00000318010.8	+	17	2252	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	671					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GAAGCCATCAGAGAGCGCTAT	0.542000													40	75					7.53189e-24	1.27691e-23	0.007835	1	0
XIRP2	129446	broad.mit.edu	37	2	168107805	168107805	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168107805G>A	ENST00000409195.1	+	9	9992	c.9903G>A	c.(9901-9903)gtG>gtA	p.V3301V	XIRP2_ENST00000295237.9_Silent_p.V3301V|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V3079V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3126					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGTTGCAGTGCCTCCTCGCC	0.438000													54	144					0	0	0.003610	0	0
MAP4	4134	broad.mit.edu	37	3	47950644	47950644	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47950644C>T	ENST00000426837.2	-	10	5405	c.5318G>A	c.(5317-5319)aGa>aAa	p.R1773K	MAP4_ENST00000395734.3_Intron|MAP4_ENST00000383737.4_Missense_Mutation_p.R356K|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000264724.11_Missense_Mutation_p.R363K			P27816	MAP4_HUMAN	microtubule-associated protein 4	637					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTCTGCCATTCTGCTTTTATC	0.428000													7	158					0	0	0.001984	0	0
RYR2	6262	broad.mit.edu	37	1	237951342	237951342	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:237951342G>T	ENST00000366574.2	+	92	13700	c.13383G>T	c.(13381-13383)aaG>aaT	p.K4461N	RYR2_ENST00000542537.1_Missense_Mutation_p.K4445N|RYR2_ENST00000360064.6_Missense_Mutation_p.K4467N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4461					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCAAACAAAAGTTGAGGCAGC	0.398000													13	18					9.31168e-06	1.34697e-05	0.001855	1	0
TTN	7273	broad.mit.edu	37	2	179469614	179469614	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:179469614G>C	ENST00000589042.1	-	281	54426	c.54202C>G	c.(54202-54204)Cca>Gca	p.P18068A	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9003A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P15500A|TTN_ENST00000342175.6_Missense_Mutation_p.P9195A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P16427A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9128A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16427	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCTTGGTGGGGATGGGCGG	0.423000													56	133					0	0	0.003610	0	0
MPZL1	9019	broad.mit.edu	37	1	167742587	167742587	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:167742587C>G	ENST00000359523.2	+	4	789	c.587C>G	c.(586-588)tCt>tGt	p.S196C	MPZL1_ENST00000474859.1_Missense_Mutation_p.S196C|MPZL1_ENST00000392121.3_Intron	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	196					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					AGGAAAAACTCTAAACGGGAT	0.438000													7	106					0	0	0.003080	0	0
OFCC1	266553	broad.mit.edu	37	6	9900667	9900667	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:9900667C>G	ENST00000316020.6	-	6	602	c.603G>C	c.(601-603)aaG>aaC	p.K201N	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				TTTCGTGACTCTTATTGGAAC	0.453000													14	162					0	0	0.003163	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73280591	73280591	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:73280591T>A	ENST00000286657.4	-	4	638	c.602A>T	c.(601-603)tAc>tTc	p.Y201F		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	201					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTCTTGTAGACAACATG	0.373000													44	48					0	0	0.002522	0	0
FANCI	55215	broad.mit.edu	37	15	89837176	89837176	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89837176G>A	ENST00000310775.7	+	23	2490	c.2404G>A	c.(2404-2406)Gat>Aat	p.D802N	FANCI_ENST00000300027.8_Missense_Mutation_p.D802N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	802					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CAAGACAAGTGATAGTCTTTT	0.398000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	139					0	0	0.006320	0	0
SUMF2	25870	broad.mit.edu	37	7	56147375	56147375	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:56147375C>T	ENST00000342190.6	+	8	888	c.888C>T	c.(886-888)agC>agT	p.S296S	SUMF2_ENST00000395435.2_3'UTR|SUMF2_ENST00000275607.9_3'UTR|SUMF2_ENST00000437307.2_3'UTR|SUMF2_ENST00000434526.2_3'UTR|SUMF2_ENST00000413756.1_3'UTR|SUMF2_ENST00000395436.2_3'UTR	NM_001130069.2	NP_001123541.1	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	0						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTGCAAACAGCGCAATTCCAA	0.602000											OREG0018082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	52					0	0	0.002299	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570722	20570722	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20570722C>T	ENST00000329697.6	-	3	393	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2B_ENST00000565232.1_Silent_p.K75K|ACSM2B_ENST00000567001.1_Silent_p.K75K|ACSM2B_ENST00000565322.1_5'UTR|ACSM2B_ENST00000414188.2_Silent_p.K75K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	75					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATTCCTTCCCCTTCCCATTCA	0.557000													18	31					0	0	0.008871	0	0
LRIG1	26018	broad.mit.edu	37	3	66460596	66460596	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:66460596T>C	ENST00000383703.3	-	7	1495	c.892A>G	c.(892-894)Att>Gtt	p.I298V	LRIG1_ENST00000273261.3_Missense_Mutation_p.I298V			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	298						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGCGGTGAATGCGAGCGATG	0.567000													141	137					0	0	0.003610	0	0
TRIT1	54802	broad.mit.edu	37	1	40319737	40319737	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:40319737C>T	ENST00000316891.5	-	3	333	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	TRIT1_ENST00000441669.2_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000544981.1_Missense_Mutation_p.E107K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E107K	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	107					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATATATCTTCAATGTGAACA	0.373000													13	73					0	0	0.001368	0	0
ESRRG	2104	broad.mit.edu	37	1	216850476	216850476	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216850476G>C	ENST00000391890.3	-	4	862	c.345C>G	c.(343-345)taC>taG	p.Y115*	ESRRG_ENST00000463665.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000359162.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366937.1_Nonsense_Mutation_p.Y143*|ESRRG_ENST00000361525.3_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493748.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000493603.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000361395.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000487276.1_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366938.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000366940.2_Nonsense_Mutation_p.Y115*|ESRRG_ENST00000408911.3_Nonsense_Mutation_p.Y138*|ESRRG_ENST00000360012.3_Nonsense_Mutation_p.Y115*	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	138					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CCCCATAGTGGTACCCAGAAG	0.498000													56	138					0	0	0.003610	0	0
CTNND2	1501	broad.mit.edu	37	5	11346514	11346514	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11346514G>T	ENST00000304623.8	-	9	1787	c.1598C>A	c.(1597-1599)cCg>cAg	p.P533Q	CTNND2_ENST00000503622.1_Missense_Mutation_p.P196Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.P100Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.P533Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.P442Q|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	533					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCAATGGACGGGGACCTGGC	0.493000													105	163					3.00942e-58	5.56702e-58	0.003610	1	0
POLG	5428	broad.mit.edu	37	15	89862533	89862533	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89862533G>A	ENST00000268124.5	-	19	3363	c.3030C>T	c.(3028-3030)ctC>ctT	p.L1010L	POLG_ENST00000442287.2_Silent_p.L1010L	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	1010					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			TGTCCACTGGGAGGTTCAACT	0.557000								DNA polymerases (catalytic subunits)					4	73					0	0	0.000248	0	0
HERC2P3	283755	broad.mit.edu	37	15	20645746	20645746	+	RNA	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:20645746G>A	ENST00000428453.1	-	0	3019																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGCGAGGTGGCAGTGAAGGG	0.612000													12	51					0	0	0.004007	0	0
PDS5B	23047	broad.mit.edu	37	13	33281144	33281144	+	Missense_Mutation	SNP	C	C	G	rs141013786	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33281144C>G	ENST00000315596.10	+	18	2116	c.1930C>G	c.(1930-1932)Caa>Gaa	p.Q644E		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	644					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TCCAACTGATCAAGCCATCAG	0.313000													12	73					0	0	0.002450	0	0
UBBP4	23666	broad.mit.edu	37	17	21731304	21731304	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:21731304G>A	ENST00000584755.1	+	2	1003	c.606G>A	c.(604-606)tgG>tgA	p.W202*	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGCAGCTGGAAGATGGCGG	0.527000													87	160					0	0	0.003610	0	0
UGP2	7360	broad.mit.edu	37	2	64085024	64085024	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:64085024G>T	ENST00000337130.5	+	3	685	c.209G>T	c.(208-210)gGg>gTg	p.G70V	UGP2_ENST00000394417.2_Missense_Mutation_p.G59V|UGP2_ENST00000467648.2_Missense_Mutation_p.G59V|UGP2_ENST00000445915.2_Missense_Mutation_p.G79V|UGP2_ENST00000487469.1_Intron	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	70					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						CAAGAAAAGGGGCCTTCTGTG	0.403000													118	271					3.21087e-66	5.95565e-66	0.003610	1	0
TRIP6	7205	broad.mit.edu	37	7	100466214	100466214	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:100466214C>T	ENST00000200457.4	+	4	821	c.461C>T	c.(460-462)cCa>cTa	p.P154L		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	154					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCCACTCCAGCCTCTTAC	0.697000													7	65					0	0	0.001984	0	0
GPM6A	2823	broad.mit.edu	37	4	176573001	176573001	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:176573001C>T	ENST00000280187.7	-	5	570	c.525G>A	c.(523-525)ttG>ttA	p.L175L	GPM6A_ENST00000393658.2_Silent_p.L175L|GPM6A_ENST00000515090.1_Silent_p.L168L|GPM6A_ENST00000506894.1_Silent_p.L164L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	175						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GACGAAGGTCCAAGCAGAGAT	0.438000													10	141					0	0	0.006214	0	0
FOXK1	221937	broad.mit.edu	37	7	4722314	4722314	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4722314C>G	ENST00000328914.4	+	1	375	c.375C>G	c.(373-375)atC>atG	p.I125M	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	125	FHA.				cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCGTCACCATCGGCCGCAACT	0.716000													5	38					0	0	0.001984	0	0
FLNA	2316	broad.mit.edu	37	X	153594777	153594777	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:153594777T>A	ENST00000422373.1	-	8	1375	c.1127A>T	c.(1126-1128)aAg>aTg	p.K376M	FLNA_ENST00000360319.4_Missense_Mutation_p.K376M|FLNA_ENST00000344736.4_Missense_Mutation_p.K376M|FLNA_ENST00000369850.3_Missense_Mutation_p.K376M	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	376					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCCTGTGACTTATCCACGTA	0.597000													13	73					0	0	0.003163	0	0
CASZ1	54897	broad.mit.edu	37	1	10713622	10713622	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:10713622G>C	ENST00000377022.3	-	11	2809	c.2492C>G	c.(2491-2493)tCa>tGa	p.S831*	CASZ1_ENST00000344008.5_Nonsense_Mutation_p.S831*|RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.1	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	831					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGGGGTGGCTGAGGCTGCTGA	0.706000													12	52					0	0	0.000978	0	0
KRT24	192666	broad.mit.edu	37	17	38859533	38859533	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38859533C>G	ENST00000264651.2	-	1	469	c.413G>C	c.(412-414)gGa>gCa	p.G138A		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	138	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTTTTCCCCTCCAGAGAAAAG	0.522000													30	371					0	0	0.007291	0	0
ITSN2	50618	broad.mit.edu	37	2	24507701	24507701	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:24507701C>G	ENST00000355123.4	-	17	2318	c.1875G>C	c.(1873-1875)atG>atC	p.M625I	ITSN2_ENST00000406921.3_Missense_Mutation_p.M625I|ITSN2_ENST00000361999.3_Intron	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	625					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGTCATCCATATTCCCAC	0.328000													34	50					0	0	0.003755	0	0
ABCC8	6833	broad.mit.edu	37	11	17427052	17427052	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17427052T>C	ENST00000302539.4	-	27	3516	c.3391A>G	c.(3391-3393)Acc>Gcc	p.T1131A	ABCC8_ENST00000389817.3_Missense_Mutation_p.T1130A	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1130	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	TGGTCGATGGTGTTACAGTCA	0.542000													54	191					0	0	0.003610	0	0
RASGRF1	5923	broad.mit.edu	37	15	79292109	79292109	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:79292109G>T	ENST00000419573.3	-	18	3044	c.2770C>A	c.(2770-2772)Cgg>Agg	p.R924R	RASGRF1_ENST00000394745.3_Silent_p.R140R|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.R908R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	926					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACATCCTCCGGTACTTCTCC	0.607000													38	120					9.8876e-21	1.62827e-20	0.004878	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906314	144906314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:144906314C>T	ENST00000370490.1	+	1	6626	c.2371C>T	c.(2371-2373)Cga>Tga	p.R791*	SLITRK2_ENST00000434188.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000413937.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000447897.2_Nonsense_Mutation_p.R791*|SLITRK2_ENST00000428560.2_Nonsense_Mutation_p.R791*			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	791						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGAATCTCGACGCCAAAA	0.453000													98	109					0	0	0.003610	0	0
AGXT2	64902	broad.mit.edu	37	5	35039554	35039554	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:35039554C>T	ENST00000231420.6	-	3	437	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	79					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGAAATATGCCGTCACCACAG	0.473000													38	102					0	0	0.006999	0	0
MCOLN3	55283	broad.mit.edu	37	1	85498622	85498622	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:85498622G>C	ENST00000370587.1	-	6	944	c.568C>G	c.(568-570)Cca>Gca	p.P190A	MCOLN3_ENST00000370589.2_Missense_Mutation_p.P190A|MCOLN3_ENST00000341115.4_Missense_Mutation_p.P134A|WDR63_ENST00000370596.1_Intron			Q8TDD5	MCLN3_HUMAN	mucolipin 3	190						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		GGTTCATCTGGCTCCACAAAG	0.398000													110	126					0	0	0.003610	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648067	62648067	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:62648067C>A	ENST00000337910.5	-	6	1696	c.1359G>T	c.(1357-1359)atG>atT	p.M453I	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.M453I	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	453					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					CTTCCTTGTTCATGATGTTTT	0.483000													28	91					1.50538e-07	2.21474e-07	0.006320	1	0
KIAA2022	340533	broad.mit.edu	37	X	73960704	73960704	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:73960704C>T	ENST00000373468.1	-	3	4339	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	KIAA2022_ENST00000055682.5_Missense_Mutation_p.A1230T			Q5QGS0	K2022_HUMAN	KIAA2022	1230					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TTGATGGCAGCCATGTATTTC	0.473000													33	85					0	0	0.003271	0	0
RPTN	126638	broad.mit.edu	37	1	152128090	152128090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152128090C>G	ENST00000316073.3	-	3	1549	c.1485G>C	c.(1483-1485)caG>caC	p.Q495H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	495	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AATGATAACTCTGGTCTTGTC	0.498000													10	1806					0	0	0.001168	0	0
NELL1	4745	broad.mit.edu	37	11	21592462	21592462	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:21592462T>A	ENST00000298925.5	+	19	2370	c.2217T>A	c.(2215-2217)caT>caA	p.H739Q	NELL1_ENST00000357134.5_Missense_Mutation_p.H711Q|NELL1_ENST00000529218.1_3'UTR|NELL1_ENST00000532434.1_Missense_Mutation_p.H664Q|NELL1_ENST00000325319.5_Missense_Mutation_p.H654Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	711	VWFC 4.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATTGGACCCATAGCTGTCAGC	0.448000													62	168					0	0	0.003610	0	0
DPP10	57628	broad.mit.edu	37	2	116257182	116257182	+	Splice_Site	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:116257182T>A	ENST00000410059.1	+	4	846		c.e4+2		DPP10_ENST00000409163.1_Splice_Site|DPP10_ENST00000310323.8_Splice_Site|DPP10_ENST00000488208.1_Splice_Site|DPP10_ENST00000393147.2_Splice_Site	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)						proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACAACTTTTGTAAGTAATGAA	0.313000													21	37					0	0	0.008871	0	0
FBN1	2200	broad.mit.edu	37	15	48730063	48730063	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:48730063G>A	ENST00000316623.5	-	51	6670	c.6215C>T	c.(6214-6216)tCa>tTa	p.S2072L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2072	TB 8.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGATTTGGGTGATGAACACTT	0.502000													14	167					0	0	0.002450	0	0
SLC35F4	341880	broad.mit.edu	37	14	58060786	58060786	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:58060786G>A	ENST00000556826.1	-	2	396	c.160C>T	c.(160-162)Cac>Tac	p.H54Y	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.H90Y|SLC35F4_ENST00000557430.1_5'UTR	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGCCACTGTGTGAACTGGGG	0.488000													18	27					0	0	0.006122	0	0
SH3RF2	153769	broad.mit.edu	37	5	145439601	145439601	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:145439601C>T	ENST00000511217.1	+	8	1780	c.1728C>T	c.(1726-1728)ctC>ctT	p.L576L	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.L576L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	576							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTGCCCTCACGGGGGAGC	0.632000													38	74					0	0	0.005524	0	0
GPR116	221395	broad.mit.edu	37	6	46830642	46830642	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:46830642G>C	ENST00000283296.7	-	15	2470	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	GPR116_ENST00000456426.2_Missense_Mutation_p.L586V|GPR116_ENST00000362015.4_Missense_Mutation_p.L728V|GPR116_ENST00000265417.7_Missense_Mutation_p.L728V|GPR116_ENST00000545669.1_Missense_Mutation_p.L157V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	728					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATCTGGAGCAGACTGTTTATT	0.502000													73	281					0	0	0.003610	0	0
CA7	766	broad.mit.edu	37	16	66881111	66881111	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:66881111T>C	ENST00000394069.3	+	2	482	c.51T>C	c.(49-51)aaT>aaC	p.N17N	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Silent_p.N73N	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	73					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TAGACTTCAATGACAGCGATG	0.582000													23	46					0	0	0.001882	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197326	26197326	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:26197326C>T	ENST00000377831.5	-	2	606	c.153G>A	c.(151-153)gaG>gaA	p.E51E	HIST1H3D_ENST00000356476.2_Silent_p.E51E	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	51					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				AGCGGCGGATCTCGCGCAGAG	0.632000													49	107					0	0	0.003610	0	0
RIMS3	9783	broad.mit.edu	37	1	41107389	41107389	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:41107389G>A	ENST00000372684.3	-	3	678	c.209C>T	c.(208-210)cCg>cTg	p.P70L	RIMS3_ENST00000372683.1_Missense_Mutation_p.P70L	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	70					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			ACCAGGCTGCGGAAGCTGGAG	0.637000													15	92					0	0	0.007413	0	0
FN1	2335	broad.mit.edu	37	2	216269263	216269263	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:216269263G>A	ENST00000354785.4	-	20	3471	c.3102C>T	c.(3100-3102)acC>acT	p.T1034T	FN1_ENST00000421182.1_Silent_p.T1034T|FN1_ENST00000359671.1_Silent_p.T1034T|FN1_ENST00000357867.4_Silent_p.T1034T|FN1_ENST00000357009.2_Silent_p.T1034T|FN1_ENST00000356005.4_Silent_p.T1034T|FN1_ENST00000346544.3_Silent_p.T1034T|FN1_ENST00000345488.5_Silent_p.T1034T|FN1_ENST00000336916.4_Silent_p.T1034T|FN1_ENST00000323926.6_Silent_p.T1034T|FN1_ENST00000446046.1_Silent_p.T1034T|FN1_ENST00000443816.1_Silent_p.T1034T|FN1_ENST00000432072.2_Silent_p.T1034T			P02751	FINC_HUMAN	fibronectin 1	1034	Fibronectin type-III 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCTCTTCGGGTAAGGCCCA	0.547000													45	50					0	0	0.003610	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139207	101139207	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:101139207C>G	ENST00000458570.1	-	9	2009	c.679G>C	c.(679-681)Gat>Cat	p.D227H	ZMAT1_ENST00000540921.1_Missense_Mutation_p.D398H|ZMAT1_ENST00000372782.3_Missense_Mutation_p.D398H|ZMAT1_ENST00000494068.1_5'UTR			A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	227						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTATGTAATCTTCAAGTTCA	0.413000													14	310					0	0	0.001855	0	0
HEATR1	55127	broad.mit.edu	37	1	236724551	236724551	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:236724551A>G	ENST00000366582.3	-	33	4734	c.4620T>C	c.(4618-4620)ccT>ccC	p.P1540P	HEATR1_ENST00000366581.2_Silent_p.P1459P	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1540					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTAAAATCTCAGGACCACCAC	0.333000													3	148					0	0	0.000602	0	0
ZNF724P	440519	broad.mit.edu	37	19	23415077	23415077	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:23415077C>T	ENST00000418100.1	-	2	139	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF724P_ENST00000597037.1_Missense_Mutation_p.D8N																endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						ATGGCCACATCCATAAATGTC	0.398000													65	184					0	0	0.003610	0	0
ZNF615	284370	broad.mit.edu	37	19	52497539	52497539	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52497539C>T	ENST00000602063.1	-	6	1139	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF615_ENST00000391795.3_Missense_Mutation_p.E269K|ZNF615_ENST00000598071.1_Missense_Mutation_p.E275K|ZNF615_ENST00000376716.5_Missense_Mutation_p.E264K|ZNF615_ENST00000594083.1_Missense_Mutation_p.E275K			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTGTCACATTCAGTGCATTCA	0.403000													16	154					0	0	0.004007	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325508	150325508	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:150325508T>C	ENST00000328902.5	-	3	394	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	60							GTP binding	p.I60V(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGCCGAGGATGCTGTTTCCT	0.547000													20	477					0	0	0.001523	0	0
MAP1B	4131	broad.mit.edu	37	5	71501008	71501008	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:71501008G>A	ENST00000296755.7	+	7	7647	c.7349G>A	c.(7348-7350)aGc>aAc	p.S2450N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2450						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTTTTAGCAAGCAGCAGCACA	0.468000													10	211					0	0	0.000978	0	0
MPHOSPH9	10198	broad.mit.edu	37	12	123651318	123651318	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:123651318G>A	ENST00000606320.1	-	17	2681	c.2475C>T	c.(2473-2475)gaC>gaT	p.D825D	MPHOSPH9_ENST00000392425.3_Silent_p.D673D|MPHOSPH9_ENST00000302349.5_Silent_p.D673D|MPHOSPH9_ENST00000541076.2_Silent_p.D795D			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	673					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GCCTGCTGACGTCTGAAGTTG	0.473000													73	146					0	0	0.003610	0	0
SYT16	83851	broad.mit.edu	37	14	62550913	62550913	+	Splice_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:62550913G>A	ENST00000430451.2	+	5	1631		c.e5-1			NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI											central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTCCCCTCCAGAGTGGAGGGT	0.522000													42	148					0	0	0.003610	0	0
MICALL2	79778	broad.mit.edu	37	7	1481953	1481953	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:1481953G>T	ENST00000297508.7	-	7	1761	c.1586C>A	c.(1585-1587)tCc>tAc	p.S529Y	MICALL2_ENST00000405088.4_Missense_Mutation_p.S317Y	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	529						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGGCAACGCGGATGCCTGAGA	0.667000													20	236					7.45023e-12	1.13731e-11	0.001523	1	0
GRAMD4	23151	broad.mit.edu	37	22	47033814	47033814	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:47033814C>T	ENST00000406902.1	+	3	453	c.240C>T	c.(238-240)atC>atT	p.I80I	GRAMD4_ENST00000490378.1_3'UTR|GRAMD4_ENST00000361034.3_Silent_p.I80I			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	80					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		TGAATGAGATCAAAGGTCACC	0.498000													6	225					0	0	0.001984	0	0
REG1A	5967	broad.mit.edu	37	2	79349251	79349251	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79349251G>T	ENST00000233735.1	+	4	424	c.321_splice	c.e4+1	p.K107_splice		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488000													41	80					1.96642e-18	3.13355e-18	0.006999	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103027117	103027117	+	Splice_Site	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:103027117G>C	ENST00000375735.2	+	26	3889	c.3744_splice	c.e26-1	p.D1249_splice	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.D1249_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1249	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGTTAAATAGGATTTAAATAG	0.284000													26	45					0	0	0.003330	0	0
SMARCC2	6601	broad.mit.edu	37	12	56572300	56572300	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56572300T>C	ENST00000394023.3	-	14	1303	c.1198A>G	c.(1198-1200)Acg>Gcg	p.T400A	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.T400A|SMARCC2_ENST00000347471.4_Missense_Mutation_p.T400A|SMARCC2_ENST00000267064.4_Missense_Mutation_p.T400A	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	400					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTGTTCCCCGTACTGTTCTCA	0.542000													5	145					0	0	0.000602	0	0
MYO3B	140469	broad.mit.edu	37	2	171260886	171260886	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:171260886C>A	ENST00000334231.6	+	20	2434	c.2434C>A	c.(2434-2436)Caa>Aaa	p.Q812K	MYO3B_ENST00000408978.4_Missense_Mutation_p.Q803K|MYO3B_ENST00000409044.3_Missense_Mutation_p.Q803K|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	803	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCGGTTTCCCCAAGCAACTGA	0.468000													36	72					1.36161e-19	2.21062e-19	0.004289	1	0
KANK1	23189	broad.mit.edu	37	9	712501	712501	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:712501G>C	ENST00000382303.1	+	7	2387	c.1735G>C	c.(1735-1737)Gac>Cac	p.D579H	KANK1_ENST00000382297.2_Missense_Mutation_p.D579H|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.D421H	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	579					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GGAAATGCATGACCGATGTGC	0.507000													30	196					0	0	0.003271	0	0
XBP1	7494	broad.mit.edu	37	22	29191483	29191483	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:29191483C>G	ENST00000344347.5	-	6	810	c.811G>C	c.(811-813)Gag>Cag	p.E271Q	XBP1_ENST00000405219.3_3'UTR|XBP1_ENST00000216037.6_3'UTR|XBP1_ENST00000403532.3_3'UTR			P17861	XBP1_HUMAN	X-box binding protein 1	0					immune response	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)	5						CTCTCTGTCTCAGAGGGTATC	0.463000													4	39					0	0	0.000248	0	0
PCDHB11	56125	broad.mit.edu	37	5	140581330	140581330	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140581330C>G	ENST00000354757.3	+	1	1983	c.1983C>G	c.(1981-1983)ctC>ctG	p.L661L	PCDHB11_ENST00000536699.1_Silent_p.L296L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		661	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCAAGTGCTCCTGGTGGACG	0.706000													9	162					0	0	0.008291	0	0
AMER3	205147	broad.mit.edu	37	2	131521734	131521734	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:131521734C>T	ENST00000423981.1	+	2	2199	c.2089C>T	c.(2089-2091)Cca>Tca	p.P697S	AMER3_ENST00000321420.4_Missense_Mutation_p.P697S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		CGCATGGCCTCCAAGGCAAGA	0.642000													18	32					0	0	0.004990	0	0
RP11-146E13.4	0	broad.mit.edu	37	14	19856841	19856841	+	RNA	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:19856841G>T	ENST00000548109.1	+	0	72																											CCCCATACCTGCTCTCATGTC	0.338000													9	104					7.48243e-07	1.09615e-06	0.006214	1	0
STOML3	161003	broad.mit.edu	37	13	39564848	39564848	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:39564848C>A	ENST00000379631.4	-	1	355	c.11G>T	c.(10-12)aGg>aTg	p.R4M	STOML3_ENST00000423210.1_De_novo_Start_InFrame	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	4						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TGAAGACACCCTAGAATCCAT	0.408000													10	98					0.000219431	0.000312826	0.002450	1	0
CDH9	1007	broad.mit.edu	37	5	26890642	26890642	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:26890642G>T	ENST00000231021.4	-	8	1457	c.1285C>A	c.(1285-1287)Cgt>Agt	p.R429S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	429	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCAAAAATACGGTCCATATCA	0.403000													33	92					1.414e-09	2.121e-09	0.003755	1	0
OR2C3	81472	broad.mit.edu	37	1	247695641	247695641	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:247695641G>T	ENST00000366487.3	-	2	534	c.173C>A	c.(172-174)aCa>aAa	p.T58K	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTACATAGGTGTGTGGAGGTG	0.488000													53	92					1.11015e-26	1.89605e-26	0.003610	1	0
NUP107	57122	broad.mit.edu	37	12	69109407	69109407	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:69109407G>T	ENST00000229179.4	+	12	1302	c.969_splice	c.e12-1	p.D324_splice	NUP107_ENST00000539906.1_Splice_Site_p.D295_splice|NUP107_ENST00000378905.2_Splice_Site_p.D173_splice	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	324					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTTACAGGACCCTGATGC	0.358000													49	109					2.0833e-19	3.36646e-19	0.003610	1	0
PUM1	9698	broad.mit.edu	37	1	31423055	31423055	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:31423055G>A	ENST00000373747.3	-	17	2877	c.2778C>T	c.(2776-2778)gtC>gtT	p.V926V	PUM1_ENST00000257075.5_Silent_p.V925V|PUM1_ENST00000373741.4_Silent_p.V961V|PUM1_ENST00000373742.2_Silent_p.V866V|PUM1_ENST00000440538.2_Silent_p.V899V|PUM1_ENST00000426105.2_Silent_p.V925V|PUM1_ENST00000424085.2_Silent_p.V683V|PUM1_ENST00000423018.2_Silent_p.V781V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	925	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		CCAATGACAGGACGTGGCCTC	0.438000													6	65					0	0	0.001168	0	0
PIK3CA	5290	broad.mit.edu	37	3	178921521	178921521	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:178921521A>G	ENST00000263967.3	+	5	1160	c.1003A>G	c.(1003-1005)Aga>Gga	p.R335G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	335					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGTGCACTCAGAATAAAAAT	0.313000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	317					0	0	0.006999	0	0
PRKRIR	5612	broad.mit.edu	37	11	76063227	76063227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:76063227C>A	ENST00000260045.3	-	5	1072	c.967G>T	c.(967-969)Gag>Tag	p.E323*		NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	323					negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						CGACAATACTCCATATTTAAT	0.383000													41	86					9.55421e-19	1.52602e-18	0.003610	1	0
CD200R1	131450	broad.mit.edu	37	3	112647682	112647682	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:112647682C>A	ENST00000471858.1	-	4	913	c.681G>T	c.(679-681)ctG>ctT	p.L227L	CD200R1_ENST00000308611.3_Silent_p.L250L|CD200R1_ENST00000295863.4_Silent_p.L205L	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	227	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						GCTCTATGTACAGACTCTTGT	0.378000													20	40					3.62473e-10	5.47279e-10	0.001882	1	0
USP8	9101	broad.mit.edu	37	15	50773685	50773685	+	Missense_Mutation	SNP	G	G	T	rs114434131	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50773685G>T	ENST00000433963.1	+	12	1726	c.1226G>T	c.(1225-1227)cGt>cTt	p.R409L	USP8_ENST00000425032.3_Missense_Mutation_p.R332L|USP8_ENST00000307179.4_Missense_Mutation_p.R409L|USP8_ENST00000396444.3_Missense_Mutation_p.R409L	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	409					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TAGATTGATCGTACTAAAAAA	0.358000													15	25					1.52009e-12	2.34121e-12	0.003163	1	0
BRINP3	339479	broad.mit.edu	37	1	190067943	190067943	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:190067943C>T	ENST00000367462.3	-	8	1737	c.1506G>A	c.(1504-1506)caG>caA	p.Q502Q	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.Q400Q	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		502						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGTCCGTTTTCTGCAGCAGAT	0.498000													51	239					0	0	0.003610	0	0
LRP1	4035	broad.mit.edu	37	12	57548529	57548529	+	Silent	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:57548529A>T	ENST00000554174.1	+	8	1328	c.1272A>T	c.(1270-1272)ccA>ccT	p.P424P	LRP1_ENST00000243077.3_Intron			Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	623					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCATGATCCAGGGCCTTCTG	0.597000													3	4					0	0	0.004672	0	0
ELAVL4	1996	broad.mit.edu	37	1	50661352	50661352	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:50661352G>T	ENST00000371824.1	+	5	885	c.628G>T	c.(628-630)Gcc>Tcc	p.A210S	ELAVL4_ENST00000448907.2_Missense_Mutation_p.A213S|ELAVL4_ENST00000357083.4_Missense_Mutation_p.A227S|ELAVL4_ENST00000371827.1_Missense_Mutation_p.A210S|ELAVL4_ENST00000371819.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000371821.1_Missense_Mutation_p.A215S|ELAVL4_ENST00000371823.4_Missense_Mutation_p.A210S			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	210	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TGTGAAGTTTGCCAACAACCC	0.572000													57	94					4.54978e-40	8.23977e-40	0.003610	1	0
KCTD7	154881	broad.mit.edu	37	7	66236935	66236935	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:66236935C>G	ENST00000380828.2	+	2	203	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	KCTD7_ENST00000510829.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000437078.2_Missense_Mutation_p.L31V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.L17V|RABGEF1_ENST00000439720.2_Missense_Mutation_p.L30V|KCTD7_ENST00000451741.2_Missense_Mutation_p.L17V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.L17V			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TCAATCGGATCTCCTGTGCAA	0.483000													50	231					0	0	0.003610	0	0
NUP188	23511	broad.mit.edu	37	9	131768858	131768858	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:131768858G>A	ENST00000372577.2	+	44	5172	c.5151G>A	c.(5149-5151)tcG>tcA	p.S1717S		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1717					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCCTCCCCTCGCCGCAGGGCA	0.612000											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	53					0	0	0.003610	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099575	64099575	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:64099575C>T	ENST00000539294.1	+	4	1319	c.1003C>T	c.(1003-1005)Cca>Tca	p.P335S	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.P146S|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	336												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AGGACCTCAGCCACAGGCCCA	0.567000													14	31					0	0	0.004007	0	0
ACOT12	134526	broad.mit.edu	37	5	80640770	80640770	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:80640770G>A	ENST00000307624.3	-	8	892	c.864C>T	c.(862-864)taC>taT	p.Y288Y		NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	288	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		CAGCAGCATTGTAAATGAGAA	0.488000													49	118					0	0	0.003610	0	0
PREX2	80243	broad.mit.edu	37	8	69005862	69005862	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:69005862A>T	ENST00000288368.4	+	21	2550	c.2273A>T	c.(2272-2274)tAt>tTt	p.Y758F	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	758					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAATGGGTTTATAATAGCATT	0.438000													49	101					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152275982	152275982	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:152275982G>A	ENST00000368799.1	-	3	11415	c.11380C>T	c.(11380-11382)Cag>Tag	p.Q3794*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3794	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTTCCCTGGGATGTGGTG	0.572000									Ichthyosis				331	646					0	0	0.003610	0	0
FOXG1	2290	broad.mit.edu	37	14	29237608	29237608	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:29237608G>T	ENST00000382535.3	+	2	1492	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	FOXG1_ENST00000313071.4_Missense_Mutation_p.A375S			P55316	FOXG1_HUMAN	forkhead box G1	375					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATCCCGTACGCCACGCACCA	0.677000													40	88					2.75727e-19	4.43477e-19	0.004878	1	0
PCF11	51585	broad.mit.edu	37	11	82879779	82879779	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:82879779G>C	ENST00000298281.4	+	8	2854	c.2402G>C	c.(2401-2403)gGa>gCa	p.G801A		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	801	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATGGGGGGAGGAGGCCCTTTG	0.522000													7	83					0	0	0.001984	0	0
AP3D1	8943	broad.mit.edu	37	19	2109958	2109958	+	Splice_Site	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:2109958C>G	ENST00000355272.6	-	29	3471		c.e29-1		AP3D1_ENST00000356926.4_Splice_Site|AP3D1_ENST00000345016.5_Splice_Site|AP3D1_ENST00000350812.6_Splice_Site	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit						eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCGTCATTCTGCGGTGGAG	0.642000													19	56					0	0	0.007413	0	0
MARS	4141	broad.mit.edu	37	12	57883081	57883081	+	Translation_Start_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:57883081G>A	ENST00000315473.5	+	0	257				MARS_ENST00000447721.2_Intron|MARS_ENST00000262027.5_Missense_Mutation_p.D78N			P56192	SYMC_HUMAN	methionyl-tRNA synthetase						methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGAGCAAGATGACCTCAC	0.517000													11	158					0	0	0.002450	0	0
RTEL1	51750	broad.mit.edu	37	20	62321524	62321524	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62321524C>T	ENST00000318100.4	+	25	3053	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	RTEL1_ENST00000360203.5_Silent_p.I742I|RTEL1_ENST00000370003.1_5'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.I742I|RTEL1_ENST00000370018.3_Silent_p.I742I|RTEL1_ENST00000508582.2_Silent_p.I766I			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	742					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GCCATGTCATCCGAGACGTGG	0.617000													9	99					0	0	0.004482	0	0
PLEKHH1	57475	broad.mit.edu	37	14	68029252	68029252	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:68029252A>T	ENST00000329153.5	+	7	1036	c.904A>T	c.(904-906)Agg>Tgg	p.R302W		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	302						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GACCTCTGCCAGGGAAGGTGG	0.592000													15	49					0	0	0.002450	0	0
TIGIT	201633	broad.mit.edu	37	3	114026751	114026751	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:114026751C>T	ENST00000481065.1	+	5	3324	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	TIGIT_ENST00000383671.3_Missense_Mutation_p.L170F|TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Missense_Mutation_p.L170F			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	170					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GAAGAAAGCCCTCAGAATCCA	0.468000													21	111					0	0	0.002780	0	0
CLRN1	7401	broad.mit.edu	37	3	150690259	150690259	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:150690259C>T	ENST00000327047.1	-	1	527	c.237G>A	c.(235-237)agG>agA	p.R79R	CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.R79R	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	79					equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACCGAAAGGGCCTTGCTCCCA	0.473000													56	164					0	0	0.003610	0	0
DNAH8	1769	broad.mit.edu	37	6	38759381	38759381	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:38759381C>T	ENST00000359357.3	+	19	2435	c.2181C>T	c.(2179-2181)gcC>gcT	p.A727A	DNAH8_ENST00000441566.1_Silent_p.A727A|DNAH8_ENST00000449981.2_Silent_p.A944A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATAGCCAAAACTGTGT	0.353000													20	37					0	0	0.001523	0	0
XIRP2	129446	broad.mit.edu	37	2	168115224	168115224	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168115224A>G	ENST00000409728.1	+	11	2356	c.2267A>G	c.(2266-2268)cAg>cGg	p.Q756R	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.Q723R|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.Q501R|XIRP2_ENST00000409756.2_Missense_Mutation_p.Q723R|XIRP2_ENST00000420519.1_Missense_Mutation_p.Q756R|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1274					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTGCAGGCAGAAGACATCT	0.299000													19	60					0	0	0.001523	0	0
SLC4A7	9497	broad.mit.edu	37	3	27463267	27463267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:27463267C>T	ENST00000295736.5	-	9	1313	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	SLC4A7_ENST00000437179.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000454389.1_Missense_Mutation_p.D424N|SLC4A7_ENST00000446700.1_Missense_Mutation_p.D407N|SLC4A7_ENST00000455077.1_Missense_Mutation_p.D296N|SLC4A7_ENST00000440156.1_Missense_Mutation_p.D411N|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000428386.1_Missense_Mutation_p.D291N|SLC4A7_ENST00000445684.1_Missense_Mutation_p.D411N|SLC4A7_ENST00000425128.2_Missense_Mutation_p.D407N|SLC4A7_ENST00000435667.2_Missense_Mutation_p.D300N	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	415						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AAATTCATATCAACCTATTGA	0.353000													50	33					0	0	0.003610	0	0
SLC5A9	200010	broad.mit.edu	37	1	48708177	48708177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:48708177G>T	ENST00000236495.5	+	14	1851	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	SLC5A9_ENST00000533824.1_Nonsense_Mutation_p.E597*|SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000438567.2_Nonsense_Mutation_p.E576*	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	576						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTCTGAGCTGGAGAAGGAGGC	0.622000													6	170					0.00116845	0.00164536	0.001168	1	0
ZNF852	285346	broad.mit.edu	37	3	44541821	44541821	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:44541821C>G	ENST00000436261.1	-	4	608	c.448G>C	c.(448-450)Gaa>Caa	p.E150Q	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	150					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						AAAACTCCTTCATGTTCAACA	0.398000													31	126					0	0	0.003755	0	0
PRKRIP1	79706	broad.mit.edu	37	7	102065581	102065581	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:102065581C>G	ENST00000354783.4	+	5	490	c.399C>G	c.(397-399)gcC>gcG	p.A133A	PRKRIP1_ENST00000496391.1_3'UTR|PRKRIP1_ENST00000482465.1_3'UTR|PRKRIP1_ENST00000462601.1_3'UTR|PRKRIP1_ENST00000397912.3_3'UTR			Q9H875	PKRI1_HUMAN	PRKR interacting protein 1 (IL11 inducible)	0	Required for RNA-binding (By similarity).|Required for nuclear localization (By similarity).					nucleolus				endometrium(1)|lung(4)|ovary(1)	6						CAGCCTCTGCCTGGAACCTGG	0.607000													11	9					0	0	0.000978	0	0
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81444997	81444997	+	RNA	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:81444997T>C	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							ACAACAATTTTCGGGCTTGCA	0.612000													3	17					0	0	0.004672	0	0
BPIFB3	359710	broad.mit.edu	37	20	31652345	31652345	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:31652345G>T	ENST00000375494.3	+	7	735	c.735G>T	c.(733-735)ctG>ctT	p.L245L		NM_182658.1	NP_872599.1	P59826	LPLC3_HUMAN	BPI fold containing family B, member 3	245					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										ACATAGAACTGGACATCAACG	0.587000													28	67					7.26314e-15	1.13384e-14	0.007291	1	0
DNAH11	8701	broad.mit.edu	37	7	21640667	21640667	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:21640667T>C	ENST00000328843.6	+	17	3326	c.3295T>C	c.(3295-3297)Ttt>Ctt	p.F1099L	DNAH11_ENST00000409508.3_Missense_Mutation_p.F1099L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1099	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATGAGCAAATTTGAGGACTT	0.333000									Kartagener syndrome				22	74					0	0	0.002299	0	0
HDLBP	3069	broad.mit.edu	37	2	242187504	242187504	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:242187504G>T	ENST00000391975.1	-	14	1872	c.1645C>A	c.(1645-1647)Caa>Aaa	p.Q549K	HDLBP_ENST00000427183.2_Missense_Mutation_p.Q516K|HDLBP_ENST00000310931.4_Missense_Mutation_p.Q549K|HDLBP_ENST00000391976.2_Missense_Mutation_p.Q549K	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	549	KH 6.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.Q549*(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TCACTTTTTTGTGCTGGGTCT	0.408000													43	37					1.8453e-21	3.05337e-21	0.002522	1	0
OR8H3	390152	broad.mit.edu	37	11	55890000	55890000	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55890000G>T	ENST00000313472.3	+	1	152	c.152G>T	c.(151-153)cGc>cTc	p.R51L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R51L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.443000													33	475					5.82388e-19	9.32362e-19	0.003610	1	0
ANXA7	310	broad.mit.edu	37	10	75139821	75139821	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:75139821G>A	ENST00000372921.4	-	10	1113	c.1057C>T	c.(1057-1059)Cag>Tag	p.Q353*	ANXA7_ENST00000535178.1_Nonsense_Mutation_p.Q223*	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	375							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GCTCTCAGCTGAGGAAAGCTT	0.428000													101	344					0	0	0.003610	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438733	37438733	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:37438733C>A	ENST00000374660.1	+	11	1532	c.1433C>A	c.(1432-1434)cCa>cAa	p.P478Q	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P478Q|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P478Q			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	534						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						AACTCTGTTCCAAATAAAGCC	0.294000													48	107					3.76997e-23	6.34458e-23	0.003610	1	0
CTNNA2	1496	broad.mit.edu	37	2	80874994	80874994	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:80874994C>A	ENST00000466387.1	+	22	3439	c.2715C>A	c.(2713-2715)ttC>ttA	p.F905L	CTNNA2_ENST00000402739.4_Missense_Mutation_p.F953L|CTNNA2_ENST00000541047.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.F860L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.F905L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.F584L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.F939L			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	953					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGGATTCCTTCTAGGACGATA	0.378000													74	147					9.88329e-16	1.54988e-15	0.003610	1	0
FAM63B	54629	broad.mit.edu	37	15	59146757	59146757	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:59146757G>C	ENST00000559228.1	+	9	1896	c.1814G>C	c.(1813-1815)cGa>cCa	p.R605P	FAM63B_ENST00000450403.2_Missense_Mutation_p.R604P			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	605										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGGAACCACGAGAAAAAGAT	0.383000													12	67					0	0	0.000978	0	0
SVIP	258010	broad.mit.edu	37	11	22848863	22848863	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:22848863C>A	ENST00000354193.4	-	3	225	c.109G>T	c.(109-111)Gca>Tca	p.A37S	SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	37						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						CCCCGAGATGCAGCCTTGAAG	0.353000													37	137					1.69901e-12	2.61095e-12	0.005524	1	0
OR6K6	128371	broad.mit.edu	37	1	158725260	158725260	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158725260G>A	ENST00000368144.2	+	1	751	c.655G>A	c.(655-657)Gat>Aat	p.D219N		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GGCCTGCACAGATACATTCCT	0.473000													36	104					0	0	0.002836	0	0
BUB1B	701	broad.mit.edu	37	15	40462766	40462766	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:40462766C>T	ENST00000287598.6	+	4	463	c.268C>T	c.(268-270)Cct>Tct	p.P90S	BUB1B_ENST00000412359.3_Missense_Mutation_p.P104S|BUB1B_ENST00000560120.1_3'UTR	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	90	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GCAGAACTATCCTCAAGGTGG	0.373000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				10	104					0	0	0.000978	0	0
FES	2242	broad.mit.edu	37	15	91436009	91436009	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:91436009G>C	ENST00000328850.3	+	14	1922	c.1780G>C	c.(1780-1782)Gag>Cag	p.E594Q	FES_ENST00000450438.2_Missense_Mutation_p.E466Q|FES_ENST00000394300.3_Missense_Mutation_p.E536Q|FES_ENST00000414248.2_Missense_Mutation_p.E466Q|FES_ENST00000394302.1_Missense_Mutation_p.E466Q|FES_ENST00000444422.2_Missense_Mutation_p.E524Q	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	594	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTCTTGTCGAGAGACGCTCCC	0.572000													8	125					0	0	0.003080	0	0
EMR1	2015	broad.mit.edu	37	19	6924814	6924814	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:6924814G>T	ENST00000312053.4	+	15	1954	c.1917G>T	c.(1915-1917)ctG>ctT	p.L639L	EMR1_ENST00000381404.4_Silent_p.L587L|EMR1_ENST00000381407.5_Silent_p.L498L|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000450315.3_Silent_p.L462L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	639					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACCTCCACCTGCACCTCTGCG	0.552000													35	111					5.43694e-19	8.72439e-19	0.005524	1	0
POTEG	404785	broad.mit.edu	37	14	19553818	19553818	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:19553818C>G	ENST00000409832.3	+	1	454	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587000													35	639					0	0	0.003610	0	0
OR13C4	138804	broad.mit.edu	37	9	107288743	107288743	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107288743T>C	ENST00000277216.3	-	1	747	c.748A>G	c.(748-750)Ata>Gta	p.I250V		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CCATAAAATATGATCACCACA	0.453000													80	63					0	0	0.003610	0	0
COL1A2	1278	broad.mit.edu	37	7	94057155	94057155	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:94057155A>C	ENST00000297268.6	+	49	3955	c.3484A>C	c.(3484-3486)Aca>Cca	p.T1162P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1162	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCAGCTCGCACATGCCGTGA	0.488000										HNSCC(75;0.22)			32	24					0	0	0.001786	0	0
OR5M9	390162	broad.mit.edu	37	11	56230512	56230512	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:56230512C>A	ENST00000279791.1	-	1	365	c.366G>T	c.(364-366)atG>atT	p.M122I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGCAGCCGGCCATGTACCTGT	0.493000													53	125					1.00221e-16	1.58607e-16	0.003610	1	0
ACSM2A	123876	broad.mit.edu	37	16	20476886	20476886	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20476886G>A	ENST00000573854.1	+	3	339	c.225G>A	c.(223-225)aaG>aaA	p.K75K	ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.K75K|ACSM2A_ENST00000396104.2_Silent_p.K75K|ACSM2A_ENST00000219054.6_Silent_p.K75K|ACSM2A_ENST00000575690.1_Silent_p.K75K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000417235.2_5'UTR	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	75					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TGAATGGGAAGGGGAAGGAAT	0.572000													6	72					0	0	0.004482	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409546	17409546	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:17409546C>T	ENST00000339994.4	-	1	660	c.93G>A	c.(91-93)cgG>cgA	p.R31R	KCNJ11_ENST00000528731.1_Intron	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	0						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		AGCGGGCCCTCCGCTGGCGGG	0.652000													14	157					0	0	0.001855	0	0
DST	667	broad.mit.edu	37	6	56484146	56484146	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:56484146C>T	ENST00000370765.6	-	23	4793	c.4686G>A	c.(4684-4686)ttG>ttA	p.L1562L	DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5241					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACTTTTCTCCAATTCTTCAT	0.333000													59	139					0	0	0.003610	0	0
ABCA1	19	broad.mit.edu	37	9	107586827	107586827	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:107586827G>A	ENST00000374736.3	-	18	2969	c.2575C>T	c.(2575-2577)Cct>Tct	p.P859S		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	859					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTGGTGCAAGGAAAATACCAG	0.507000													56	38					0	0	0.003610	0	0
MCCC1	56922	broad.mit.edu	37	3	182790247	182790247	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:182790247G>A	ENST00000492597.1	-	4	773	c.71C>T	c.(70-72)tCa>tTa	p.S24L	MCCC1_ENST00000265594.4_Missense_Mutation_p.S133L|MCCC1_ENST00000539926.1_5'UTR			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	133					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CATGTTTTCTGAGAGAAAACC	0.383000													14	228					0	0	0.002450	0	0
DSG3	1830	broad.mit.edu	37	18	29052738	29052738	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:29052738C>T	ENST00000257189.4	+	14	2171	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	696					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGCCGATTTCATGGAAAGTT	0.323000													4	53					0	0	0.000602	0	0
XIRP2	129446	broad.mit.edu	37	2	168103763	168103763	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:168103763C>A	ENST00000409195.1	+	9	5950	c.5861C>A	c.(5860-5862)gCa>gAa	p.A1954E	XIRP2_ENST00000295237.9_Missense_Mutation_p.A1954E|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1732E|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1779					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GCTGTGATGGCAGGATCCTCG	0.423000													19	66					0.000132079	0.000189469	0.008871	1	0
NBEAL2	23218	broad.mit.edu	37	3	47049787	47049787	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:47049787C>G	ENST00000450053.3	+	51	7913	c.7734C>G	c.(7732-7734)atC>atG	p.I2578M	NBEAL2_ENST00000383740.2_Missense_Mutation_p.I827M|NBEAL2_ENST00000292309.5_Missense_Mutation_p.I2394M	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2578							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GAACTGTGATCATACACACTG	0.602000													9	27					0	0	0.004482	0	0
CBL	867	broad.mit.edu	37	11	119144609	119144609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:119144609G>C	ENST00000264033.4	+	4	998	c.622G>C	c.(622-624)Gct>Cct	p.A208P		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	208	Cbl-PTB.|EF-hand-like.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTTCGACAGGCTCTACATGA	0.458000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				24	56					0	0	0.004656	0	0
MAPK13	5603	broad.mit.edu	37	6	36106682	36106682	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:36106682G>A	ENST00000211287.4	+	11	1130	c.868G>A	c.(868-870)Gag>Aag	p.E290K	MAPK13_ENST00000373761.6_Missense_Mutation_p.E280K|MAPK13_ENST00000373766.5_Missense_Mutation_p.G239E|MAPK13_ENST00000373759.1_3'UTR	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	290	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GAAGATGCTGGAGCTAGACGT	0.672000													22	81					0	0	0.002780	0	0
ZP2	7783	broad.mit.edu	37	16	21215680	21215680	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:21215680T>C	ENST00000574002.1	-	9	1221	c.739A>G	c.(739-741)Ata>Gta	p.I247V	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.I247V|ZP2_ENST00000219593.4_Missense_Mutation_p.I247V			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	247					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAGGAGATATAAATGTAAGC	0.428000													32	40					0	0	0.008361	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783712	149783712	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:149783712G>T	ENST00000427880.2	-	1	213	c.167C>A	c.(166-168)tCg>tAg	p.S56*	HIST2H2BF_ENST00000545683.1_Nonsense_Mutation_p.S56*|HIST2H2BF_ENST00000369167.1_Nonsense_Mutation_p.S56*|HIST2H2BF_ENST00000469483.1_5'UTR			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	56					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GGCCTTGGACGAGATGCCGGT	0.607000													134	313					5.71173e-70	1.06229e-69	0.003610	1	0
CSMD3	114788	broad.mit.edu	37	8	113668540	113668540	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:113668540C>G	ENST00000297405.5	-	18	3091	c.2847G>C	c.(2845-2847)ctG>ctC	p.L949L	CSMD3_ENST00000455883.2_Silent_p.L845L|CSMD3_ENST00000352409.3_Silent_p.L949L|CSMD3_ENST00000343508.3_Silent_p.L909L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	949	CUB 5.					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						CATGAACTTCCAGAACATCAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			28	69					0	0	0.005443	0	0
SOGA2	23255	broad.mit.edu	37	18	8783661	8783661	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:8783661A>C	ENST00000359865.3	+	6	693	c.551A>C	c.(550-552)tAt>tCt	p.Y184S	SOGA2_ENST00000306329.11_Missense_Mutation_p.Y544S|SOGA2_ENST00000517570.1_Missense_Mutation_p.Y184S|SOGA2_ENST00000400050.3_Missense_Mutation_p.Y184S|SOGA2_ENST00000306285.7_5'UTR	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN	SOGA family member 2	535																	AAGTCCCTCTATGGGGATGTG	0.612000													3	44					0	0	0.004672	0	0
PHACTR1	221692	broad.mit.edu	37	6	13185055	13185055	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:13185055G>A	ENST00000379345.2	+	5	495	c.254G>A	c.(253-255)aGt>aAt	p.S85N	PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	226						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCTGCCAGTGAGTCTGGA	0.562000													20	230					0	0	0.002299	0	0
EPS8L2	64787	broad.mit.edu	37	11	722549	722549	+	Splice_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:722549G>A	ENST00000533256.1	+	14	1583	c.1208_splice	c.e14+1	p.R403_splice	EPS8L2_ENST00000530636.1_Splice_Site_p.R403_splice|EPS8L2_ENST00000318562.8_Splice_Site_p.R403_splice|AP006621.9_ENST00000527021.2_RNA|EPS8L2_ENST00000526198.1_Splice_Site_p.R419_splice			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	403						cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATGCGGCCCCGGTAGGGCAGG	0.687000													24	22					0	0	0.002299	0	0
PRTG	283659	broad.mit.edu	37	15	55929374	55929374	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:55929374G>T	ENST00000389286.4	-	15	2664	c.2617C>A	c.(2617-2619)Cgt>Agt	p.R873S		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	873	Fibronectin type-III 5.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TTACCTTCACGGTGTAAGACC	0.393000													53	109					5.13769e-22	8.54218e-22	0.003610	1	0
OR8H2	390151	broad.mit.edu	37	11	55872803	55872803	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55872803G>T	ENST00000313503.1	+	1	285	c.285G>T	c.(283-285)acG>acT	p.T95T		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTTCCTTTACGGGCTGCTTTG	0.443000										HNSCC(53;0.14)			177	524					4.48366e-97	8.38408e-97	0.003610	1	0
OR8K5	219453	broad.mit.edu	37	11	55927286	55927286	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:55927286C>A	ENST00000313447.1	-	1	507	c.508G>T	c.(508-510)Ggc>Tgc	p.G170C		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				ACATTAGAGCCACAGAAGGTC	0.388000													50	86					8.0703e-11	1.22925e-10	0.003610	1	0
TBCEL	219899	broad.mit.edu	37	11	120925915	120925915	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:120925915A>T	ENST00000422003.2	+	5	798	c.610A>T	c.(610-612)Acc>Tcc	p.T204S	TBCEL_ENST00000529397.1_Missense_Mutation_p.T204S	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	204						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TTCACTGGATACCCTCGTCCT	0.418000													40	63					0	0	0.008740	0	0
CHST4	10164	broad.mit.edu	37	16	71570718	71570718	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:71570718G>T	ENST00000338482.5	+	3	481	c.138G>T	c.(136-138)ctG>ctT	p.L46L	CHST4_ENST00000539698.3_Silent_p.L46L|RP11-510M2.9_ENST00000572693.1_RNA|CHST4_ENST00000572450.1_Silent_p.L46L|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	46					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGCACGTGCTGGTTCTGTCTT	0.557000													5	189					0.000602214	0.00084975	0.000602	1	0
WDR47	22911	broad.mit.edu	37	1	109538250	109538250	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:109538250G>C	ENST00000357672.3	-	7	1934	c.1559C>G	c.(1558-1560)tCa>tGa	p.S520*	WDR47_ENST00000369965.4_Nonsense_Mutation_p.S549*|WDR47_ENST00000400794.3_Nonsense_Mutation_p.S556*|WDR47_ENST00000369962.3_Nonsense_Mutation_p.S548*|WDR47_ENST00000361054.3_Nonsense_Mutation_p.S520*			O94967	WDR47_HUMAN	WD repeat domain 47	548										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GTGATTTGTTGATCCAGGATT	0.373000													37	235					0	0	0.003755	0	0
FOXK1	221937	broad.mit.edu	37	7	4800781	4800781	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:4800781G>A	ENST00000328914.4	+	8	1783	c.1783G>A	c.(1783-1785)Ggg>Agg	p.G595R	FOXK1_ENST00000446823.1_Missense_Mutation_p.G432R	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	595					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GATGGCCCCCGGGGTCCCCGG	0.672000													42	93					0	0	0.007835	0	0
STXBP5	134957	broad.mit.edu	37	6	147684646	147684646	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:147684646G>A	ENST00000367481.3	+	22	2721	c.2613G>A	c.(2611-2613)caG>caA	p.Q871Q	STXBP5_ENST00000321680.6_Silent_p.Q907Q|STXBP5_ENST00000179882.6_Silent_p.Q562Q|STXBP5_ENST00000367480.3_Silent_p.Q854Q	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	907					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CCTCTTCTCAGGAAATTAGTG	0.418000													16	54					0	0	0.003163	0	0
SMC4	10051	broad.mit.edu	37	3	160120573	160120573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:160120573C>A	ENST00000357388.3	+	4	879	c.428C>A	c.(427-429)tCa>tAa	p.S143*	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000344722.5_Nonsense_Mutation_p.S143*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.S143*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.S118*|SMC4_ENST00000360111.2_Nonsense_Mutation_p.S143*	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	143					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAAAACTCTCAGTATTAATA	0.323000													8	262					0.000274275	0.000389403	0.004482	1	0
SLC4A4	8671	broad.mit.edu	37	4	72205125	72205125	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:72205125G>C	ENST00000340595.3	+	1	356	c.160G>C	c.(160-162)Gag>Cag	p.E54Q	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E98Q|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E98Q|SLC4A4_ENST00000264485.5_Missense_Mutation_p.E98Q|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E54Q	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	98						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CATCTTGGGAGAGGAGGATGA	0.552000													23	212					0	0	0.001882	0	0
UBC	7316	broad.mit.edu	37	12	125397588	125397588	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:125397588C>G	ENST00000536769.1	-	1	2306	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	UBC_ENST00000546120.1_Missense_Mutation_p.E168Q|UBC_ENST00000339647.5_Missense_Mutation_p.E244Q|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	244	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGCTCGACCTCAAGGGTGATG	0.512000													21	330					0	0	0.002299	0	0
LPHN3	23284	broad.mit.edu	37	4	62778453	62778453	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:62778453G>A	ENST00000512091.1	+	12	2633	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	LPHN3_ENST00000507164.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629H|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697H|LPHN3_ENST00000514591.1_Missense_Mutation_p.R629H|LPHN3_ENST00000514157.1_Missense_Mutation_p.R629H|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629H|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697H|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697H|LPHN3_ENST00000511324.1_Missense_Mutation_p.R697H|LPHN3_ENST00000504896.1_Missense_Mutation_p.R629H|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629H|LPHN3_ENST00000509896.1_Missense_Mutation_p.R697H			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R629H(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AAAAGAGAGCGCTCTTGCAGA	0.363000													50	51					0	0	0.003610	0	0
COL25A1	84570	broad.mit.edu	37	4	109822296	109822296	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:109822296C>T	ENST00000399132.1	-	14	1343	c.813G>A	c.(811-813)caG>caA	p.Q271Q	COL25A1_ENST00000399127.1_Silent_p.Q267Q|COL25A1_ENST00000399126.1_Silent_p.Q271Q	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	271	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GTATTCCATTCTGTCCTACTG	0.348000													15	50					0	0	0.004007	0	0
KCNV1	27012	broad.mit.edu	37	8	110980568	110980568	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:110980568G>A	ENST00000524391.1	-	4	2284	c.1252C>T	c.(1252-1254)Ctt>Ttt	p.L418F	KCNV1_ENST00000297404.1_Missense_Mutation_p.L418F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	418						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			GCCAAGACAAGAATTCCCGAT	0.478000													51	113					0	0	0.003610	0	0
KIAA1429	25962	broad.mit.edu	37	8	95547138	95547138	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:95547138G>A	ENST00000297591.5	-	5	488	c.413C>T	c.(412-414)tCt>tTt	p.S138F	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S138F|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S138F	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	138					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tggtggtggAGAGTCTCTGTC	0.458000													41	109					0	0	0.006999	0	0
LRP1B	53353	broad.mit.edu	37	2	141032165	141032165	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:141032165C>A	ENST00000389484.3	-	85	13941	c.12970G>T	c.(12970-12972)Gtg>Ttg	p.V4324L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4324	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.V4324L(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTGGCACACGTCTAGGAAA	0.353000										TSP Lung(27;0.18)			21	36					0.000132079	0.000189469	0.008871	1	0
ZNF354C	30832	broad.mit.edu	37	5	178506641	178506641	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178506641A>G	ENST00000315475.6	+	5	1514	c.1208A>G	c.(1207-1209)cAg>cGg	p.Q403R		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		ATCGAACATCAGCGAATTCAC	0.408000													3	158					0	0	0.000602	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142452	5142452	+	RNA	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:5142452C>A	ENST00000498233.1	-	0	946																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		CCATGGCTAGCAGGACTCCTG	0.438000													13	73					1.05317e-09	1.58665e-09	0.002450	1	0
SEMA5A	9037	broad.mit.edu	37	5	9066745	9066745	+	Missense_Mutation	SNP	C	C	A	rs140646095		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:9066745C>A	ENST00000382496.5	-	17	2752	c.2087G>T	c.(2086-2088)tGc>tTc	p.C696F		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	696	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTTGGTGTTGCAAGACTGGTA	0.537000													78	178					4.63251e-29	7.95132e-29	0.003610	1	0
NPY1R	4886	broad.mit.edu	37	4	164247211	164247211	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:164247211C>T	ENST00000296533.2	-	2	1027	c.496G>A	c.(496-498)Gct>Act	p.A166T	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	166					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GAAGCCACAGCAAGGACCCAA	0.433000													30	39					0	0	0.007291	0	0
ITGAL	3683	broad.mit.edu	37	16	30495265	30495265	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30495265C>T	ENST00000356798.6	+	8	1020	c.840C>T	c.(838-840)atC>atT	p.I280I	ITGAL_ENST00000454514.2_3'UTR|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Silent_p.I197I|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	280	VWFA.				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	AAGACATCATCCGCTACATCA	0.582000													5	249					0	0	0.001168	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077336	19077336	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:19077336A>T	ENST00000329773.2	-	2	701	c.614T>A	c.(613-615)cTg>cAg	p.L205Q		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	205					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCTGACCAGCAGGGCCAGACT	0.547000													24	48					0	0	0.002780	0	0
C7orf33	202865	broad.mit.edu	37	7	148311217	148311217	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:148311217G>T	ENST00000307003.2	+	2	649	c.288G>T	c.(286-288)tgG>tgT	p.W96C		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	96										central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGCCCCGTGGCATTTTCTTT	0.517000													27	57					8.24728e-16	1.29627e-15	0.004656	1	0
PCDHA11	56138	broad.mit.edu	37	5	140250129	140250129	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:140250129G>C	ENST00000398640.2	+	1	1441	c.1441G>C	c.(1441-1443)Gcg>Ccg	p.A481P	PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGCGGGACGCGGACGCGCA	0.667000													8	225					0	0	0.004482	0	0
DBH	1621	broad.mit.edu	37	9	136522303	136522303	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:136522303C>A	ENST00000393056.2	+	11	1686	c.1674C>A	c.(1672-1674)ttC>ttA	p.F558L	DBH-AS1_ENST00000425189.1_RNA	NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	558					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TGTACAGCTTCGCGCCCATCT	0.632000													38	57					2.87052e-16	4.5324e-16	0.005524	1	0
ANKRD6	22881	broad.mit.edu	37	6	90331648	90331648	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:90331648G>T	ENST00000522441.1	+	10	1441	c.800G>T	c.(799-801)cGc>cTc	p.R267L	LYRM2_ENST00000520441.1_Missense_Mutation_p.R75S|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R267L|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R267L|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R208L|ANKRD6_ENST00000369408.5_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	267							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGGTCTTGCGCTTCAGTCGT	0.547000													22	64					7.45023e-12	1.13731e-11	0.001523	1	0
ABCA10	10349	broad.mit.edu	37	17	67197788	67197788	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:67197788G>A	ENST00000269081.4	-	11	1937	c.1028C>T	c.(1027-1029)tCt>tTt	p.S343F	ABCA10_ENST00000416101.2_Missense_Mutation_p.S343F|ABCA10_ENST00000432313.2_Missense_Mutation_p.S343F	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	343					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					AAATAATGGAGAATCCCCATG	0.318000													13	56					0	0	0.002450	0	0
TBC1D15	64786	broad.mit.edu	37	12	72278770	72278770	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:72278770G>T	ENST00000550746.1	+	5	587	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.E175*|TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.E183*|TBC1D15_ENST00000393309.3_Intron	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	175							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACTACTGATTGAATCTCTTGA	0.353000													15	77					2.31682e-05	3.34437e-05	0.003163	1	0
RNF213	57674	broad.mit.edu	37	17	78327389	78327389	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:78327389G>C	ENST00000582970.1	+	34	10644	c.10501G>C	c.(10501-10503)Gag>Cag	p.E3501Q	RNF213_ENST00000508628.2_Missense_Mutation_p.E3550Q|RNF213_ENST00000336301.6_Missense_Mutation_p.E1574Q|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.E1574Q(1)|p.E3550Q(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGAGGTGGCAGAGGTGGCAGA	0.567000													5	78					0	0	0.001984	0	0
GCM1	8521	broad.mit.edu	37	6	52993279	52993279	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:52993279G>A	ENST00000259803.7	-	6	1247	c.1036C>T	c.(1036-1038)Cct>Tct	p.P346S		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	346						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TTGGCTGCAGGTGGCTCCAAT	0.473000													39	162					0	0	0.006230	0	0
YME1L1	10730	broad.mit.edu	37	10	27434503	27434503	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:27434503C>T	ENST00000326799.3	-	4	504	c.356G>A	c.(355-357)aGg>aAg	p.R119K	YME1L1_ENST00000375972.3_Missense_Mutation_p.R62K|YME1L1_ENST00000477432.1_3'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.R62K	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	119					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCAAGGTCCCTTAAGTTAAG	0.333000													21	77					0	0	0.002299	0	0
GPR98	84059	broad.mit.edu	37	5	90106682	90106682	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106682C>A	ENST00000405460.2	+	74	15701	c.15605C>A	c.(15604-15606)tCt>tAt	p.S5202Y	GPR98_ENST00000425867.2_Missense_Mutation_p.S863Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5202					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCTGCTGTGTCTGAAAAGCCT	0.468000													57	111					3.31993e-32	5.81408e-32	0.003610	1	0
C12orf60	144608	broad.mit.edu	37	12	14976373	14976373	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:14976373C>T	ENST00000330828.2	+	2	708	c.504C>T	c.(502-504)acC>acT	p.T168T	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	168										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						CAGATGTCACCACATCTGAGA	0.393000													6	77					0	0	0.001168	0	0
SAMHD1	25939	broad.mit.edu	37	20	35559189	35559189	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:35559189T>C	ENST00000262878.4	-	5	798	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	200	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				TCCAGCAATCTGAACACAGAG	0.413000													64	141					0	0	0.003610	0	0
FOXA1	3169	broad.mit.edu	37	14	38060620	38060620	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:38060620G>A	ENST00000250448.2	-	2	1430	c.1369C>T	c.(1369-1371)Ccg>Tcg	p.P457S	FOXA1_ENST00000540786.1_Missense_Mutation_p.P424S|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	457					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			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)		TAGTACGCCGGCTCCAGGGCT	0.612000													4	103					0	0	0.001168	0	0
MAG	4099	broad.mit.edu	37	19	35800952	35800952	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:35800952G>T	ENST00000361922.4	+	8	1557	c.1407G>T	c.(1405-1407)gtG>gtT	p.V469V	MAG_ENST00000392213.3_Silent_p.V469V|MAG_ENST00000537831.2_Silent_p.V444V|MAG_ENST00000593348.1_3'UTR	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	469	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GCGGCCTCGTGCTCACCAGCA	0.687000													44	46					6.68952e-21	1.10425e-20	0.003214	1	0
CENPE	1062	broad.mit.edu	37	4	104068734	104068734	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:104068734T>C	ENST00000265148.3	-	29	4002	c.3913A>G	c.(3913-3915)Atg>Gtg	p.M1305V	CENPE_ENST00000380026.3_Missense_Mutation_p.M1280V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1305					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGTTCATTCATTGTTTCCTGA	0.388000													44	40					0	0	0.002222	0	0
TLR7	51284	broad.mit.edu	37	X	12904444	12904444	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:12904444T>G	ENST00000380659.3	+	3	956	c.817T>G	c.(817-819)Tgt>Ggt	p.C273G		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	273					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTGTGCGCCGTGTAAAAATAA	0.388000													56	70					0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123155982	123155982	+	Silent	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:123155982A>G	ENST00000264501.4	+	27	3751	c.3378A>G	c.(3376-3378)aaA>aaG	p.K1126K	KIAA1109_ENST00000455637.1_Silent_p.K1126K|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.K1126K			Q2LD37	K1109_HUMAN	KIAA1109	1126					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGAAACAAATGTGGTTGTC	0.393000													50	54					0	0	0.003610	0	0
ZNF512B	57473	broad.mit.edu	37	20	62591451	62591451	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:62591451C>G	ENST00000450537.1	-	17	2529	c.2469G>C	c.(2467-2469)agG>agC	p.R823S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R823S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R823S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AGTCCTGGCTCCTGTGTTTGG	0.572000													6	122					0	0	0.001168	0	0
CIC	23152	broad.mit.edu	37	19	42795409	42795409	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42795409C>A	ENST00000572681.2	+	11	5284	c.5216C>A	c.(5215-5217)cCc>cAc	p.P1739H	CIC_ENST00000575354.2_Missense_Mutation_p.P830H|CIC_ENST00000160740.3_Missense_Mutation_p.P830H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	830					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACATCCTGCCCACGCTGCCC	0.687000			"""Mis, F, S"""		oligodendroglioma								14	18					0.00244969	0.00343555	0.002450	1	0
ZBTB25	7597	broad.mit.edu	37	14	64954378	64954378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:64954378G>A	ENST00000394715.1	-	6	1272	c.571C>T	c.(571-573)Cag>Tag	p.Q191*	ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000261683.2_Nonsense_Mutation_p.Q191*			P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	191						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		TCCAGGGCCTGGGTGGCAGGA	0.592000													141	286					0	0	0.003610	0	0
RGS7	6000	broad.mit.edu	37	1	241519074	241519074	+	Translation_Start_Site	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:241519074C>A	ENST00000366565.1	-	2	384	c.3G>T	c.(1-3)atG>atT	p.M1I	RGS7_ENST00000366563.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000366564.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000366562.4_Start_Codon_SNP_p.M1I|RGS7_ENST00000407727.1_Start_Codon_SNP_p.M1I|RGS7_ENST00000348120.2_Start_Codon_SNP_p.M1I|RGS7_ENST00000401882.1_Start_Codon_SNP_p.M1I	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	1					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCCCCTGGGCCATGTCACCCA	0.498000													42	91					4.67007e-22	7.78344e-22	0.008740	1	0
HECTD4	283450	broad.mit.edu	37	12	112711557	112711557	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:112711557G>C	ENST00000550722.1	-	11	1807	c.1412C>G	c.(1411-1413)tCa>tGa	p.S471*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.S433*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.S183*	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		ATAGTCATTTGAGCATGTCCA	0.443000													9	167					0	0	0.004482	0	0
MBTPS2	51360	broad.mit.edu	37	X	21863309	21863309	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:21863309T>G	ENST00000365779.2	+	3	326	c.245T>G	c.(244-246)tTt>tGt	p.F82C	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Missense_Mutation_p.F82C			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	82					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAATGGTGTTTGGCGTAATT	0.378000													59	60					0	0	0.003610	0	0
MYO15A	51168	broad.mit.edu	37	17	18070960	18070960	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:18070960C>T	ENST00000205890.5	+	62	10343	c.10005C>T	c.(10003-10005)agC>agT	p.S3335S	MYO15A_ENST00000418233.3_Silent_p.S599S|MYO15A_ENST00000451725.2_Intron	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3335	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCGGCCCAGCGAGCAGCTGC	0.662000													23	45					0	0	0.002780	0	0
LRRC8E	80131	broad.mit.edu	37	19	7965435	7965435	+	Silent	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7965435A>T	ENST00000306708.6	+	3	2129	c.2028A>T	c.(2026-2028)tcA>tcT	p.S676S	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	676						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GCCTGTGCTCAGGCCTCCGTC	0.632000													36	63					0	0	0.002836	0	0
ERBB4	2066	broad.mit.edu	37	2	212589868	212589868	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:212589868T>A	ENST00000342788.4	-	6	984	c.674A>T	c.(673-675)tAc>tTc	p.Y225F	ERBB4_ENST00000436443.1_Missense_Mutation_p.Y225F|ERBB4_ENST00000402597.1_Missense_Mutation_p.Y225F	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	225	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTCACTGACGTAAGGTCCGTA	0.493000										TSP Lung(8;0.080)			41	47					0	0	0.006999	0	0
MS4A14	84689	broad.mit.edu	37	11	60183849	60183849	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:60183849G>C	ENST00000300187.6	+	5	1685	c.1408G>C	c.(1408-1410)Gaa>Caa	p.E470Q	MS4A14_ENST00000531783.1_Missense_Mutation_p.E503Q|MS4A14_ENST00000531787.1_Missense_Mutation_p.E358Q|MS4A14_ENST00000395005.2_Missense_Mutation_p.E453Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	470	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						AGAGACCAAAGAATGGAAATC	0.388000													9	114					0	0	0.004482	0	0
RHPN1	114822	broad.mit.edu	37	8	144463846	144463846	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144463846G>A	ENST00000289013.6	+	13	1694	c.1593G>A	c.(1591-1593)tcG>tcA	p.S531S		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	556					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GGGGAGACTCGCCTGTCCTCA	0.692000													23	39					0	0	0.001882	0	0
HPD	3242	broad.mit.edu	37	12	122281718	122281718	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:122281718T>C	ENST00000543163.1	-	13	1180	c.735A>G	c.(733-735)agA>agG	p.R245R	HPD_ENST00000289004.4_Silent_p.R284R	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	284					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	ACTCCAGGCCTCTCTCTCTCA	0.537000													3	93					0	0	0.000602	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456514	30456514	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:30456514C>A	ENST00000478753.2	-	1	988	c.535G>T	c.(535-537)Gtc>Ttc	p.V179F	SEPHS2_ENST00000542752.1_Missense_Mutation_p.V122F|SEPHS2_ENST00000500504.2_Missense_Mutation_p.V179F			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	179					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CTCTGGCTGACGCTGAGTAAC	0.547000													62	75					2.73361e-28	4.68038e-28	0.003610	1	0
RB1	5925	broad.mit.edu	37	13	48955580	48955580	+	Splice_Site	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:48955580G>A	ENST00000267163.4	+	17	1833		c.e17+1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGGCTCTCAGTAAGTAGCTA	0.343000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			13	15					0	0	0.001368	0	0
TRPM7	54822	broad.mit.edu	37	15	50902065	50902065	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:50902065G>A	ENST00000313478.7	-	18	2655	c.2374C>T	c.(2374-2376)Cat>Tat	p.H792Y	TRPM7_ENST00000560955.1_Missense_Mutation_p.H792Y	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	792					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTCATCTGATGAGCATCTTGA	0.358000													35	88					0	0	0.006999	0	0
TBC1D32	221322	broad.mit.edu	37	6	121482138	121482138	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:121482138C>A	ENST00000275159.6	-	24	2757	c.2758G>T	c.(2758-2760)Ggt>Tgt	p.G920C	TBC1D32_ENST00000398212.2_Missense_Mutation_p.G879C|TBC1D32_ENST00000398197.2_5'UTR					TBC1 domain family, member 32																		AATGGCCCACCAACAAGATTT	0.383000													30	82					5.90632e-09	8.78311e-09	0.002445	1	0
SYTL2	54843	broad.mit.edu	37	11	85436305	85436305	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:85436305C>T	ENST00000359152.5	-	1	2766	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V399I|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.V399I|SYTL2_ENST00000527523.1_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCATTCAATACAGGTCTGGGT	0.468000													37	90					0	0	0.006230	0	0
TNRC18	84629	broad.mit.edu	37	7	5353145	5353145	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:5353145C>T	ENST00000399537.4	-	27	7725	c.7377G>A	c.(7375-7377)gaG>gaA	p.E2459E	TNRC18_ENST00000430969.1_Silent_p.E2459E			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2459							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGACAAGCAGCTCGGCCTCCT	0.687000													21	38					0	0	0.003330	0	0
HSPA4L	22824	broad.mit.edu	37	4	128748493	128748493	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128748493G>C	ENST00000296464.3	+	17	2491	c.2080G>C	c.(2080-2082)Gag>Cag	p.E694Q	HSPA4L_ENST00000439123.2_Missense_Mutation_p.E725Q|HSPA4L_ENST00000508776.1_Missense_Mutation_p.E694Q|HSPA4L_ENST00000505726.1_Missense_Mutation_p.E668Q	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	694					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GAAGTACATGGAGCATGAAGA	0.318000													21	53					0	0	0.003954	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801142	185801142	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:185801142T>C	ENST00000302277.6	+	4	1613	c.1019T>C	c.(1018-1020)gTt>gCt	p.V340A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	340						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTAGAGAGTGTTGTTATTAAT	0.333000													36	80					0	0	0.006230	0	0
PCDH15	65217	broad.mit.edu	37	10	55782945	55782945	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:55782945C>T	ENST00000373965.2	-	20	2648	c.2254G>A	c.(2254-2256)Gat>Aat	p.D752N	PCDH15_ENST00000414778.1_Missense_Mutation_p.D750N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D708N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D723N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D745N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D745N|PCDH15_ENST00000409834.1_Missense_Mutation_p.D356N|PCDH15_ENST00000395430.1_Missense_Mutation_p.D745N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D745N|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.D674N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D745N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D752N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	745	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATTCCAGCATCAGGGTCTGTT	0.338000										HNSCC(58;0.16)			9	59					0	0	0.006214	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209933400	209933400	+	Missense_Mutation	SNP	C	C	T	rs151094826		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:209933400C>T	ENST00000367024.1	+	3	532	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P6S|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P6S			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	6						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGCCCAGACCCCAGGCCCTC	0.602000													18	50					0	0	0.007413	0	0
MCTP2	55784	broad.mit.edu	37	15	94928705	94928705	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:94928705G>T	ENST00000357742.4	+	13	1739	c.1739G>T	c.(1738-1740)gGa>gTa	p.G580V	MCTP2_ENST00000451018.3_Missense_Mutation_p.G580V|MCTP2_ENST00000331706.4_Missense_Mutation_p.G168V|MCTP2_ENST00000557742.1_Missense_Mutation_p.G168V	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	580	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GATGAAGATGGAGATAAACCC	0.338000													74	263					7.09011e-46	1.29423e-45	0.003610	1	0
UNC5D	137970	broad.mit.edu	37	8	35608237	35608237	+	Silent	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:35608237G>T	ENST00000287272.2	+	12	1886	c.1866G>T	c.(1864-1866)ctG>ctT	p.L622L	UNC5D_ENST00000449677.1_Silent_p.L267L|UNC5D_ENST00000404895.2_Silent_p.L691L|UNC5D_ENST00000416672.1_Silent_p.L696L|UNC5D_ENST00000420357.1_Silent_p.L624L|UNC5D_ENST00000453357.2_Silent_p.L686L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	691	ZU5.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGAAGCAACTGAAGGTGGCGG	0.507000													31	306					5.45727e-16	8.59707e-16	0.008361	1	0
TREM1	54210	broad.mit.edu	37	6	41250265	41250265	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:41250265C>G	ENST00000591620.1	-	2	300	c.274G>C	c.(274-276)Gat>Cat	p.D92H	TREM1_ENST00000589614.1_Missense_Mutation_p.D92H|TREM1_ENST00000244709.4_Missense_Mutation_p.D92H|TREM1_ENST00000334475.6_Missense_Mutation_p.D92H	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	92	Ig-like V-type.				blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AAACCATGATCATGGTAGTCT	0.512000													24	94					0	0	0.002299	0	0
PCP2	126006	broad.mit.edu	37	19	7697683	7697683	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:7697683G>A	ENST00000311069.5	-	2	375	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PCP2_ENST00000598935.1_Silent_p.L13L|CTD-3214H19.4_ENST00000595866.1_Intron	NM_174895.1	NP_777555.1	Q8IVA1	PCP2_HUMAN	Purkinje cell protein 2	29	GoLoco 1.				signal transduction		GTPase activator activity			endometrium(1)|urinary_tract(1)	2						TGGCTCAGCAGATTGAAGAAG	0.672000													5	4					0	0	0.001168	0	0
TTC13	79573	broad.mit.edu	37	1	231069578	231069578	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:231069578C>G	ENST00000366661.4	-	9	937	c.930G>C	c.(928-930)ttG>ttC	p.L310F	TTC13_ENST00000414259.1_Missense_Mutation_p.L257F|TTC13_ENST00000366662.4_Missense_Mutation_p.L257F	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	310							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTTTCTGCTTCAAAGCTTCTT	0.328000													21	88					0	0	0.002780	0	0
HSPA4L	22824	broad.mit.edu	37	4	128741604	128741604	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr4:128741604G>C	ENST00000296464.3	+	14	2107	c.1696G>C	c.(1696-1698)Gac>Cac	p.D566H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.D597H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D566H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.D540H|HSPA4L_ENST00000515262.1_3'UTR	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	566					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AGACAAACAAGACCGATTAAA	0.338000													14	27					0	0	0.004007	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890588	32890588	+	RNA	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:32890588T>A	ENST00000330048.5	-	0	3210					NR_003083.2																						GCCCAGCCCATGGCCTCACCC	0.592000													6	22					0	0	0.001168	0	0
RFX4	5992	broad.mit.edu	37	12	107109319	107109319	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:107109319C>T	ENST00000392842.1	+	11	1549	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	RP11-482D24.3_ENST00000552415.1_RNA|RFX4_ENST00000357881.4_Nonsense_Mutation_p.Q388*|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Nonsense_Mutation_p.Q285*	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	379	Necessary for dimerization.				transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTCATCACCCAATGTAAGCT	0.458000													49	96					0	0	0.003610	0	0
ANO9	338440	broad.mit.edu	37	11	433389	433389	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:433389G>C	ENST00000332826.6	-	4	359	c.275C>G	c.(274-276)aCt>aGt	p.T92S		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	92						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CAGGAGGAAAGTGCGGTACAG	0.647000													45	40					0	0	0.003610	0	0
FABP1	2168	broad.mit.edu	37	2	88424028	88424028	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:88424028G>A	ENST00000393750.3	-	3	349	c.318C>T	c.(316-318)ggC>ggT	p.G106G	FABP1_ENST00000295834.3_Silent_p.G106G|FABP1_ENST00000495375.1_5'UTR			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	106					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGATTATGTCGCCGTTGAGTT	0.522000													40	75					0	0	0.008740	0	0
FLRT2	23768	broad.mit.edu	37	14	86088200	86088200	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:86088200C>T	ENST00000330753.4	+	2	1109	c.342C>T	c.(340-342)ctC>ctT	p.L114L	FLRT2_ENST00000554746.1_Silent_p.L114L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	114					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCAGAGTTCTCCATTTGCAGG	0.493000													61	133					0	0	0.003610	0	0
ANKRD53	79998	broad.mit.edu	37	2	71206951	71206951	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:71206951G>T	ENST00000272421.6	+	3	844	c.578G>T	c.(577-579)tGc>tTc	p.C193F	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Missense_Mutation_p.C159F|ANKRD53_ENST00000441349.1_Missense_Mutation_p.C159F|ANKRD53_ENST00000360589.3_Missense_Mutation_p.C193F	NM_024933.3	NP_079209.3	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	193										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						GCCCTCCCCTGCATCTACTAC	0.602000													36	76					4.3949e-29	7.56229e-29	0.004289	1	0
PPARD	5467	broad.mit.edu	37	6	35378951	35378951	+	Silent	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:35378951C>G	ENST00000311565.4	+	4	436	c.87C>G	c.(85-87)ctC>ctG	p.L29L	PPARD_ENST00000418635.2_Silent_p.L29L|PPARD_ENST00000337400.2_Silent_p.L29L|PPARD_ENST00000448077.2_Intron|PPARD_ENST00000360694.3_Silent_p.L29L|PPARD_ENST00000444397.1_Silent_p.L29L|PPARD_ENST00000540939.1_Intron	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	29					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CCCCAGAGCTCAATGGGGGAC	0.627000													16	68					0	0	0.003163	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24958893	24958893	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:24958893T>C	ENST00000289968.6	-	14	1220	c.1151A>G	c.(1150-1152)aAg>aGg	p.K384R	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.K384R	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	384	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CTGAGCAAGCTTTGCAAGGAA	0.463000													3	71					0	0	0.004672	0	0
EFTUD1	79631	broad.mit.edu	37	15	82523196	82523196	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:82523196C>A	ENST00000268206.7	-	8	1016	c.848G>T	c.(847-849)gGt>gTt	p.G283V	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Missense_Mutation_p.G232V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	283					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	p.G283D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TACCTGATCACCCTTCATGAT	0.323000													8	135					0.00307968	0.0043103	0.003080	1	0
GLI4	2738	broad.mit.edu	37	8	144358699	144358699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:144358699C>T	ENST00000340042.1	+	4	941	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	GLI4_ENST00000523522.1_Nonsense_Mutation_p.Q286*|GLI4_ENST00000523812.1_3'UTR	NM_138465.3	NP_612474.1	P10075	GLI4_HUMAN	GLI family zinc finger 4	286						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			GGTGCGCCACCAGCGGCTGCA	0.657000													21	35					0	0	0.001523	0	0
IMP4	92856	broad.mit.edu	37	2	131100699	131100699	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:131100699G>T	ENST00000259239.3	+	2	752	c.44G>T	c.(43-45)cGc>cTc	p.R15L	IMP4_ENST00000409935.1_Missense_Mutation_p.R15L	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	15	Arg-rich.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					TACCTGTACCGCAAGGCCCGG	0.736000													6	12					0.000157383	0.000224833	0.003080	1	0
GPR98	84059	broad.mit.edu	37	5	90106677	90106677	+	Silent	SNP	T	T	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:90106677T>A	ENST00000405460.2	+	74	15696	c.15600T>A	c.(15598-15600)gcT>gcA	p.A5200A	GPR98_ENST00000425867.2_Silent_p.A861A	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5200					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCACACCTGCTGTGTCTGAAA	0.478000													55	116					0	0	0.003610	0	0
ZNF385B	151126	broad.mit.edu	37	2	180308165	180308165	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:180308165T>C	ENST00000410066.1	-	10	1831	c.1228A>G	c.(1228-1230)Aag>Gag	p.K410E	ZNF385B_ENST00000409343.1_Missense_Mutation_p.K334E|ZNF385B_ENST00000336917.5_Missense_Mutation_p.K308E|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Missense_Mutation_p.K308E	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	410						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCCAAAGGCTTCATCATATCT	0.562000													8	28					0	0	0.003080	0	0
CASR	846	broad.mit.edu	37	3	122003103	122003103	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:122003103G>T	ENST00000498619.1	+	7	2770	c.2332G>T	c.(2332-2334)Ggc>Tgc	p.G778C	CASR_ENST00000490131.1_Missense_Mutation_p.G768C|CASR_ENST00000296154.5_Missense_Mutation_p.G768C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	768					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTGCCACGAGGGCTCCCTCAT	0.587000													22	44					1.10513e-12	1.70591e-12	0.002299	1	0
CCDC41	51134	broad.mit.edu	37	12	94806149	94806149	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:94806149A>T	ENST00000397809.5	-	3	667	c.118T>A	c.(118-120)Tta>Ata	p.L40I	CCDC41_ENST00000339839.5_Missense_Mutation_p.L40I|CCDC41_ENST00000547575.1_Missense_Mutation_p.L40I|CCDC41_ENST00000397807.2_Missense_Mutation_p.L7I	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	32										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TCACATCGTAACCTTTCATCA	0.378000													32	116					0	0	0.002836	0	0
HERPUD2	64224	broad.mit.edu	37	7	35673933	35673933	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:35673933G>C	ENST00000396081.1	-	7	1852	c.1048C>G	c.(1048-1050)Ctt>Gtt	p.L350V	HERPUD2_ENST00000311350.3_Missense_Mutation_p.L350V|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	350					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ATTTCTTCAAGTTCCAAGTTG	0.408000													35	66					0	0	0.006230	0	0
CDH3	1001	broad.mit.edu	37	16	68729192	68729192	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68729192G>A	ENST00000264012.4	+	14	2581	c.2037G>A	c.(2035-2037)aaG>aaA	p.K679K	CDH3_ENST00000429102.2_Silent_p.K679K|CDH3_ENST00000581171.1_Silent_p.K624K	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	679					adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGGTGAGAAAGAAGCGGAAGA	0.587000													11	73					0	0	0.001855	0	0
SLC7A6OS	84138	broad.mit.edu	37	16	68337973	68337973	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:68337973C>G	ENST00000263997.6	-	3	652	c.634G>C	c.(634-636)Gag>Cag	p.E212Q		NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	212					protein transport	cytoplasm|nucleus				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		AGGATGTTCTCAATCCAGCCT	0.527000													10	145					0	0	0.006214	0	0
PDPN	10630	broad.mit.edu	37	1	13940214	13940214	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:13940214G>C	ENST00000294489.6	+	4	933	c.592G>C	c.(592-594)Gag>Cag	p.E198Q	PDPN_ENST00000475043.1_Missense_Mutation_p.E80Q|PDPN_ENST00000376061.4_Missense_Mutation_p.E80Q|PDPN_ENST00000509009.1_Missense_Mutation_p.E117Q|PDPN_ENST00000376057.4_Missense_Mutation_p.E198Q|PDPN_ENST00000513143.1_Missense_Mutation_p.E80Q|PDPN_ENST00000487038.1_Missense_Mutation_p.E80Q			Q86YL7	PDPN_HUMAN	podoplanin	122					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GACAACAGTTGAGAAAGGTAG	0.323000													16	19					0	0	0.004990	0	0
FRMPD2	143162	broad.mit.edu	37	10	49414961	49414961	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:49414961G>T	ENST00000374201.3	-	14	1929	c.1627C>A	c.(1627-1629)Cca>Aca	p.P543T	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P518T|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P511T	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	543	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CCGTATTCTGGGAGCTGCTGA	0.498000													21	48					5.35047e-06	7.77226e-06	0.003330	1	0
OR10X1	128367	broad.mit.edu	37	1	158549486	158549486	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:158549486G>C	ENST00000368150.1	-	1	203	c.204C>G	c.(202-204)gaC>gaG	p.D68E		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GGAGGGACCTGTCCACCCAAG	0.478000													41	109					0	0	0.006999	0	0
TNMD	64102	broad.mit.edu	37	X	99854535	99854535	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:99854535C>A	ENST00000373031.4	+	7	992	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	259						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						TGATCCCATGCTGGATGAGAG	0.478000													17	10					3.41278e-10	5.16408e-10	0.004990	1	0
MRPS11	64963	broad.mit.edu	37	15	89015921	89015921	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:89015921G>A	ENST00000325844.4	+	3	511	c.246G>A	c.(244-246)gaG>gaA	p.E82E	MRPS11_ENST00000557974.1_Intron|MRPS11_ENST00000353598.6_Intron	NM_022839.3	NP_073750.2	P82912	RT11_HUMAN	mitochondrial ribosomal protein S11	82					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			large_intestine(3)	3	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AATTTGAGGAGATCCCAATTG	0.443000													4	56					0	0	0.000602	0	0
POTEC	388468	broad.mit.edu	37	18	14542977	14542977	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:14542977G>A	ENST00000358970.5	-	1	168	c.169C>T	c.(169-171)Ctc>Ttc	p.L57F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	57										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCCTGAGCATCTTCATA	0.587000													132	834					0	0	0.003610	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003713	34003713	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:34003713G>A	ENST00000382491.3	-	28	4297	c.4173C>T	c.(4171-4173)atC>atT	p.I1391I	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.I1477I|SYNJ1_ENST00000322229.7_Silent_p.I1438I	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1438	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGAAAGGACTGATAGTAACGG	0.468000													19	67					0	0	0.001523	0	0
ANKRD11	29123	broad.mit.edu	37	16	89371734	89371734	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:89371734G>C	ENST00000301030.4	-	4	566	c.106C>G	c.(106-108)Cta>Gta	p.L36V	ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000378330.2_Missense_Mutation_p.L36V|ANKRD11_ENST00000563291.1_Missense_Mutation_p.L36V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	36						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)		GTCTTGGTTAGAGAAACTTTA	0.507000													7	115					0	0	0.001984	0	0
FMN2	56776	broad.mit.edu	37	1	240256603	240256603	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240256603C>A	ENST00000319653.9	+	1	1424	c.1194C>A	c.(1192-1194)ccC>ccA	p.P398P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	398					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTTCCCTGCCCGGCAGCCCCG	0.706000													36	76					3.03874e-20	4.96856e-20	0.003271	1	0
MT1DP	326343	broad.mit.edu	37	16	56678640	56678640	+	RNA	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:56678640C>A	ENST00000463480.2	+	0	133																											TCCTGCTGCCCCATGGGCTGT	0.612000													53	116					2.41709e-19	3.89671e-19	0.003610	1	0
SLC14A1	6563	broad.mit.edu	37	18	43310367	43310367	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:43310367A>G	ENST00000321925.4	+	3	314	c.82A>G	c.(82-84)Aga>Gga	p.R28G	SLC14A1_ENST00000589700.1_Missense_Mutation_p.R28G|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000586142.1_Missense_Mutation_p.R28G|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000402943.2_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.R84G|SLC14A1_ENST00000415427.3_Missense_Mutation_p.R84G|SLC14A1_ENST00000502059.2_Intron	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	28						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTCAAGGGAGAAGGTGCTT	0.498000													6	121					0	0	0.001168	0	0
WISP1	8840	broad.mit.edu	37	8	134232922	134232922	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:134232922G>T	ENST00000250160.6	+	3	554	c.448G>T	c.(448-450)Gcg>Tcg	p.A150S	WISP1_ENST00000220856.6_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	150	VWFC.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CATCGACGGCGCGGTGGGCTG	0.667000													50	138					1.39843e-22	2.33636e-22	0.003610	1	0
TMEM145	284339	broad.mit.edu	37	19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706000													4	104					0	0	0.000602	0	0
EVI2B	2124	broad.mit.edu	37	17	29631403	29631403	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:29631403C>T	ENST00000330927.4	-	2	1379	c.1225G>A	c.(1225-1227)Gat>Aat	p.D409N	EVI2B_ENST00000544462.1_Missense_Mutation_p.D424N|EVI2B_ENST00000577894.1_Missense_Mutation_p.D409N|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	409						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCATAAAATCTACTGGTGGC	0.423000													40	91					0	0	0.008740	0	0
IGKV1D-12	28903	broad.mit.edu	37	2	90199094	90199094	+	RNA	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:90199094C>A	ENST00000390276.2	+	0	436																											CAAGGTTCAGCGGCAGTGGAT	0.507000													125	273					2.0902e-53	3.84597e-53	0.003610	1	0
FAM135A	57579	broad.mit.edu	37	6	71185189	71185189	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:71185189T>C	ENST00000418814.2	+	6	848	c.234T>C	c.(232-234)aaT>aaC	p.N78N	FAM135A_ENST00000505868.1_Silent_p.N78N|FAM135A_ENST00000361499.3_Silent_p.N78N|FAM135A_ENST00000457062.2_Silent_p.N35N|FAM135A_ENST00000505769.1_Silent_p.N78N|FAM135A_ENST00000370479.3_Silent_p.N35N	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	78										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						TGTACAAAAATGAAGAGGTTG	0.264000													5	43					0	0	0.000602	0	0
ATP2C2	9914	broad.mit.edu	37	16	84485542	84485542	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:84485542C>G	ENST00000416219.2	+	18	1765	c.1676C>G	c.(1675-1677)tCt>tGt	p.S559C	ATP2C2_ENST00000262429.4_Missense_Mutation_p.S559C|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	559					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCCTGGCTTCTGGGCCCGAG	0.582000													25	308					0	0	0.004656	0	0
UBR5	51366	broad.mit.edu	37	8	103335611	103335611	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:103335611C>A	ENST00000520539.1	-	14	2318	c.1712G>T	c.(1711-1713)aGc>aTc	p.S571I	UBR5_ENST00000220959.4_Missense_Mutation_p.S571I|UBR5_ENST00000521922.1_Missense_Mutation_p.S565I	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	571					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AAATCTACAGCTGTCATTCAT	0.363000													15	44					0.00244969	0.00343555	0.002450	1	0
PPP6R2	9701	broad.mit.edu	37	22	50860746	50860746	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr22:50860746C>T	ENST00000359139.3	+	9	1303	c.909C>T	c.(907-909)agC>agT	p.S303S	PPP6R2_ENST00000216061.5_Silent_p.S303S|PPP6R2_ENST00000395744.3_Silent_p.S303S|PPP6R2_ENST00000395741.3_Silent_p.S304S	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	303						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TCAGCAGCAGCGTACTACACG	0.592000													11	167					0	0	0.008291	0	0
OR51S1	119692	broad.mit.edu	37	11	4870420	4870420	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:4870420G>T	ENST00000322101.2	-	1	94	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGCTATCTGAGTTGGTAAT	0.483000													50	120					9.22156e-22	1.52954e-21	0.003610	1	0
KRT24	192666	broad.mit.edu	37	17	38858167	38858167	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:38858167C>G	ENST00000264651.2	-	2	690	c.634G>C	c.(634-636)Gaa>Caa	p.E212Q		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	212	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCAGCATTTTCAACAGTGGCA	0.393000													3	48					0	0	0.000602	0	0
LBR	3930	broad.mit.edu	37	1	225598118	225598118	+	Splice_Site	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:225598118C>A	ENST00000338179.2	-	10	1314	c.1188_splice	c.e10-1	p.V397_splice	LBR_ENST00000272163.4_Splice_Site_p.V397_splice	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	397					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		TTAATAACCACCTGAAACAAA	0.448000													41	83					1.47197e-15	2.30308e-15	0.007835	1	0
CD44	960	broad.mit.edu	37	11	35222735	35222735	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:35222735G>A	ENST00000428726.2	+	8	1152	c.1029G>A	c.(1027-1029)agG>agA	p.R343R	CD44_ENST00000434472.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000433354.2_Silent_p.R343R|CD44_ENST00000360158.4_Intron|CD44_ENST00000437706.2_Silent_p.R343R|CD44_ENST00000415148.2_Silent_p.R300R|CD44_ENST00000278386.6_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Silent_p.R343R|CD44_ENST00000433892.2_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	343	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CAACCACAAGGATGACTGGTA	0.463000													41	146					0	0	0.006230	0	0
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1			nuclear pore complex interacting protein family, member A5									p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000													4	198					0	0	0.000248	0	0
PTEN	5728	broad.mit.edu	37	10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAAAGGAGATATCAAGAG	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			15	129					0	0	0.004007	0	0
F5	2153	broad.mit.edu	37	1	169510654	169510654	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:169510654G>T	ENST00000367796.3	-	13	3890	c.3689C>A	c.(3688-3690)gCc>gAc	p.A1230D	F5_ENST00000367797.3_Missense_Mutation_p.A1225D			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1225	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTGACCGAGGGCTGGGGAAAG	0.532000													204	448					6.2134e-80	1.15871e-79	0.003610	1	0
ASXL3	80816	broad.mit.edu	37	18	31325388	31325388	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr18:31325388G>T	ENST00000269197.5	+	12	5576	c.5576G>T	c.(5575-5577)tGt>tTt	p.C1859F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1859					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GGGGTGCCTTGTGTCATCAGT	0.468000													18	548					1.33834e-09	2.01188e-09	0.007413	1	0
MUC16	94025	broad.mit.edu	37	19	9069584	9069584	+	Silent	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9069584A>T	ENST00000397910.4	-	3	18065	c.17862T>A	c.(17860-17862)gcT>gcA	p.A5954A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5956	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACAGGGAGAGCAGAAGTGG	0.488000													54	107					0	0	0.003610	0	0
KLK13	26085	broad.mit.edu	37	19	51563831	51563831	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:51563831C>A	ENST00000595793.1	-	2	140	c.98G>T	c.(97-99)aGt>aTt	p.S33I	KLK13_ENST00000596955.1_Missense_Mutation_p.S33I|KLK13_ENST00000595547.1_Missense_Mutation_p.S33I|KLK13_ENST00000335422.3_Intron	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	33					proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GAGAAACCCACTGGTCCCATT	0.582000													69	85					1.33801e-20	2.19294e-20	0.003610	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209180091	209180091	+	Silent	SNP	C	C	T	rs35180719		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:209180091C>T	ENST00000264380.4	+	15	2159	c.2001C>T	c.(1999-2001)atC>atT	p.I667I		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	667					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGTCCACATCAAAAAAGTGA	0.418000													13	29					0	0	0.002450	0	0
NAALADL2	254827	broad.mit.edu	37	3	174951960	174951960	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:174951960C>T	ENST00000454872.1	+	3	913	c.785C>T	c.(784-786)tCa>tTa	p.S262L	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	262					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGCTCTATTCATATGCAGCC	0.428000													26	146					0	0	0.003954	0	0
C1orf85	112770	broad.mit.edu	37	1	156263979	156263979	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:156263979G>C	ENST00000362007.1	-	4	654	c.628C>G	c.(628-630)Ctg>Gtg	p.L210V	C1orf85_ENST00000472870.1_Intron|C1orf85_ENST00000368264.1_Missense_Mutation_p.L124V	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	210					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GCTGTGTGCAGGAGGCGAGGG	0.607000													15	80					0	0	0.003163	0	0
GABRA1	2554	broad.mit.edu	37	5	161324208	161324208	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:161324208C>A	ENST00000428797.2	+	11	1506	c.1151C>A	c.(1150-1152)cCg>cAg	p.P384Q	GABRA1_ENST00000393943.4_Missense_Mutation_p.P384Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.P384Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P384Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P384Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P384Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	384					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P384Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGGGCGACCCGGGCTTAGCC	0.458000													85	113					2.02726e-29	3.50579e-29	0.003610	1	0
GRIA3	2892	broad.mit.edu	37	X	122318400	122318400	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:122318400A>G	ENST00000264357.5	+	1	305	c.13A>G	c.(13-15)Aag>Gag	p.K5E	GRIA3_ENST00000371251.1_Missense_Mutation_p.K5E|GRIA3_ENST00000371266.1_Missense_Mutation_p.K5E|GRIA3_ENST00000542149.1_Missense_Mutation_p.K5E|GRIA3_ENST00000371264.3_Missense_Mutation_p.K5E|GRIA3_ENST00000371256.5_Missense_Mutation_p.K5E	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	5					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGCCAGGCAGAAGAAAATGGG	0.483000													94	97					0	0	0.003610	0	0
IGKV2D-30	28881	broad.mit.edu	37	2	89976394	89976394	+	RNA	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:89976394G>A	ENST00000474213.1	+	0	300																											CAGATTCAGCGGCAGTGGGTC	0.517000													25	295					0	0	0.001786	0	0
PCCA	5095	broad.mit.edu	37	13	100807338	100807338	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:100807338G>T	ENST00000376285.1	+	5	444	c.406G>T	c.(406-408)Gcc>Tcc	p.A136S	PCCA_ENST00000376286.4_Missense_Mutation_p.A110S|PCCA_ENST00000376279.3_Missense_Mutation_p.A136S|PCCA_ENST00000485946.1_3'UTR	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	136	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GAAAACCAGGGCCCAAGCTGT	0.423000													103	52					7.34945e-47	1.34512e-46	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9003657	9003657	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:9003657T>G	ENST00000397910.4	-	49	40186	c.39983A>C	c.(39982-39984)aAt>aCt	p.N13328T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13330	SEA 9.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GATGGTAAAATTGAGGGTGAA	0.483000													33	379					0	0	0.004289	0	0
MAP3K5	4217	broad.mit.edu	37	6	136990454	136990454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:136990454G>A	ENST00000359015.4	-	8	1693	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	445					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GATTCAAACTGGTGTCCAGCT	0.393000													52	143					0	0	0.003610	0	0
KAT6A	7994	broad.mit.edu	37	8	41792081	41792081	+	Silent	SNP	T	T	C	rs7820342		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr8:41792081T>C	ENST00000396930.3	-	18	4200	c.3657A>G	c.(3655-3657)ctA>ctG	p.L1219L	KAT6A_ENST00000265713.2_Silent_p.L1219L|KAT6A_ENST00000406337.1_Silent_p.L1219L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1219					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										tctcctcGGGTAGGGGCATGT	0.537000													58	67					0	0	0.003610	0	0
DNAH10	196385	broad.mit.edu	37	12	124408924	124408924	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:124408924A>G	ENST00000409039.3	+	66	11382	c.11357A>G	c.(11356-11358)gAc>gGc	p.D3786G	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3786					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ATGTTTTCAGACAACTTTGGG	0.453000													14	38					0	0	0.001855	0	0
INSM1	3642	broad.mit.edu	37	20	20350277	20350277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr20:20350277C>T	ENST00000310227.1	+	1	1513	c.1366C>T	c.(1366-1368)Cag>Tag	p.Q456*		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	456					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CAAGGGCGCTCAGGAGCGCCA	0.716000													14	37					0	0	0.004007	0	0
OR2T27	403239	broad.mit.edu	37	1	248813773	248813773	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:248813773C>G	ENST00000344889.3	-	1	412	c.413G>C	c.(412-414)cGc>cCc	p.R138P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R138L(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGATCTTGCGGCTCATGAG	0.557000													50	128					0	0	0.003610	0	0
DNAI1	27019	broad.mit.edu	37	9	34493300	34493300	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr9:34493300A>G	ENST00000242317.4	+	9	961	c.790A>G	c.(790-792)Agg>Ggg	p.R264G	DNAI1_ENST00000488369.1_3'UTR	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GATGGCCATGAGGAAGCTGAC	0.478000									Kartagener syndrome				39	53					0	0	0.005524	0	0
RNPEPL1	57140	broad.mit.edu	37	2	241514540	241514540	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:241514540G>A	ENST00000270357.3	+	7	1282	c.689G>A	c.(688-690)cGc>cAc	p.R230H	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	230					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GACCCACAGCGCTTTGATGAC	0.632000													81	75					0	0	0.003610	0	0
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:9161320G>C	ENST00000328194.3	-	23	4082	c.3762C>G	c.(3760-3762)atC>atG	p.I1254M	DENND5A_ENST00000527700.1_Missense_Mutation_p.I597M|DENND5A_ENST00000530044.1_3'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527000													8	68					0	0	0.003080	0	0
TSR2	90121	broad.mit.edu	37	X	54469925	54469925	+	Splice_Site	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:54469925G>T	ENST00000375151.4	+	3	285		c.e3+1			NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)						rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						TCTGCCCCAGGTGAGCTTATC	0.512000													51	125					7.05377e-20	1.1479e-19	0.003610	1	0
ZNF836	162962	broad.mit.edu	37	19	52659425	52659425	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:52659425C>A	ENST00000322146.8	-	5	2032	c.1511G>T	c.(1510-1512)gGt>gTt	p.G504V	ZNF836_ENST00000597252.1_Missense_Mutation_p.G504V|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AAAGGCTTTACCACATTTATC	0.403000													67	64					6.75472e-32	1.17696e-31	0.003610	1	0
NDUFV1	4723	broad.mit.edu	37	11	67378581	67378581	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:67378581C>T	ENST00000322776.6	+	6	969	c.816C>T	c.(814-816)ggC>ggT	p.G272G	NDUFV1_ENST00000532303.1_Silent_p.G171G|NDUFV1_ENST00000415352.2_Silent_p.G265G|NDUFV1_ENST00000529927.1_Silent_p.G263G|NDUFV1_ENST00000526169.1_3'UTR	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	272					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	GCAACTCAGGCACCAAACTAT	0.542000													42	115					0	0	0.002522	0	0
TAP2	6891	broad.mit.edu	37	6	32797792	32797792	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:32797792G>C	ENST00000374897.2	-	10	1841	c.1710C>G	c.(1708-1710)agC>agG	p.S570R	TAP2_ENST00000452392.2_Missense_Mutation_p.S570R|TAP2_ENST00000374899.4_Missense_Mutation_p.S570R	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	570	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CATCTTCGCAGCTCTGCAGCC	0.537000													61	142					0	0	0.003610	0	0
FMN2	56776	broad.mit.edu	37	1	240371048	240371048	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:240371048C>A	ENST00000319653.9	+	5	3166	c.2936C>A	c.(2935-2937)cCc>cAc	p.P979H		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	979	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCCTCCACCCCCTCTACCC	0.716000													36	52					2.6416e-12	4.05045e-12	0.006230	1	0
ORC1	4998	broad.mit.edu	37	1	52854210	52854210	+	Silent	SNP	C	C	T	rs61756135		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:52854210C>T	ENST00000371568.3	-	8	1505	c.1287G>A	c.(1285-1287)ccG>ccA	p.P429P	ORC1_ENST00000371566.1_Silent_p.P429P	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	429					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TTGGAAGGGGCGGTGTGGAAG	0.483000													8	180					0	0	0.003080	0	0
SUOX	6821	broad.mit.edu	37	12	56396425	56396425	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:56396425C>G	ENST00000394109.3	+	2	873	c.149C>G	c.(148-150)tCc>tGc	p.S50C	SUOX_ENST00000551841.2_Missense_Mutation_p.S50C|SUOX_ENST00000266971.3_Missense_Mutation_p.S50C|SUOX_ENST00000548274.1_Missense_Mutation_p.S50C|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000394115.2_Missense_Mutation_p.S50C|SUOX_ENST00000356124.4_Missense_Mutation_p.S50C			P51687	SUOX_HUMAN	sulfite oxidase	50						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			GGTGATAACTCCAGCACCCAG	0.537000													39	201					0	0	0.006230	0	0
DBNL	28988	broad.mit.edu	37	7	44091508	44091508	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:44091508C>T	ENST00000494774.1	+	3	240	c.219C>T	c.(217-219)aaC>aaT	p.N73N	DBNL_ENST00000490734.2_Intron|DBNL_ENST00000468694.1_Silent_p.N73N|DBNL_ENST00000448521.1_Silent_p.N73N|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000456905.1_Silent_p.N73N|DBNL_ENST00000452943.1_Silent_p.N73N	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	73	ADF-H.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGACCCCAACTCTGGACTGC	0.527000													33	97					0	0	0.003271	0	0
MTUS2	23281	broad.mit.edu	37	13	29599738	29599738	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:29599738A>T	ENST00000431530.3	+	1	991	c.933A>T	c.(931-933)ttA>ttT	p.L311F		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	301						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGCACAATTAGGTCAGGGAA	0.517000													19	24					0	0	0.006122	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33016826	33016826	+	Silent	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr13:33016826C>T	ENST00000357505.6	-	7	1907	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Silent_p.L601L|N4BP2L2_ENST00000399396.3_Silent_p.L616L|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		AAGTCAAAAACAGTTTCTTGT	0.323000													25	30					0	0	0.003954	0	0
ZMYND10	51364	broad.mit.edu	37	3	50380755	50380755	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:50380755C>G	ENST00000231749.3	-	5	1765	c.493G>C	c.(493-495)Gac>Cac	p.D165H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.D165H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	165						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGGTTGCTGTCCTGGGATCCC	0.617000										TSP Lung(30;0.18)			21	51					0	0	0.001523	0	0
METTL23	124512	broad.mit.edu	37	17	74729274	74729274	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:74729274C>G	ENST00000588783.1	+	3	656	c.299C>G	c.(298-300)tCt>tGt	p.S100C	METTL23_ENST00000588302.1_Missense_Mutation_p.S33C|METTL23_ENST00000591571.1_Missense_Mutation_p.S33C|METTL23_ENST00000589977.1_Missense_Mutation_p.S100C|RP11-318A15.7_ENST00000587459.1_Missense_Mutation_p.S72C|METTL23_ENST00000588822.1_Missense_Mutation_p.S33C|METTL23_ENST00000586738.1_Missense_Mutation_p.S100C|METTL23_ENST00000586200.1_Intron|METTL23_ENST00000590964.1_Missense_Mutation_p.S33C|METTL23_ENST00000586752.1_Missense_Mutation_p.S33C|METTL23_ENST00000341249.6_Missense_Mutation_p.S100C	NM_001080510.3|NM_001206983.1	NP_001073979.3|NP_001193912.1	Q86XA0	MET23_HUMAN	methyltransferase like 23	100						integral to membrane	methyltransferase activity			large_intestine(2)|lung(1)	3						ATCCTTGCATCTGATGTGTTC	0.403000													4	60					0	0	0.000248	0	0
NUDT12	83594	broad.mit.edu	37	5	102890447	102890447	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:102890447C>T	ENST00000230792.2	-	5	1168	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	NUDT12_ENST00000507423.1_Missense_Mutation_p.E340K|NUDT12_ENST00000515407.1_5'UTR	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	358	Nudix hydrolase.					nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTACCAGGCTCAATAAATCCA	0.318000													23	71					0	0	0.002299	0	0
REG3A	5068	broad.mit.edu	37	2	79386513	79386513	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr2:79386513G>T	ENST00000393878.1	-	1	273	c.19C>A	c.(19-21)Ctg>Atg	p.L7M	REG3A_ENST00000409839.3_Missense_Mutation_p.L7M|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000305165.2_Missense_Mutation_p.L7M	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	7					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ACACTGGGCAGGGCCATGGGA	0.532000													24	83					1.38267e-23	2.33262e-23	0.005443	1	0
CUX1	1523	broad.mit.edu	37	7	101918582	101918582	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:101918582C>G	ENST00000437600.4	+	17	1861	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000547394.2_Missense_Mutation_p.I489M|CUX1_ENST00000292538.4_Missense_Mutation_p.I505M|CUX1_ENST00000393824.3_Missense_Mutation_p.I466M|CUX1_ENST00000425244.2_Missense_Mutation_p.I459M	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TTTCCATCATCTCCAGCCAGA	0.632000													12	92					0	0	0.000978	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47200672	47200672	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:47200672G>C	ENST00000296861.2	-	6	2190	c.1797C>G	c.(1795-1797)atC>atG	p.I599M		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	599					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TGTCATCAAAGATAGGCTGCA	0.498000													13	239					0	0	0.004007	0	0
ITPR1	3708	broad.mit.edu	37	3	4829703	4829703	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:4829703G>A	ENST00000354582.6	+	51	6993	c.6643G>A	c.(6643-6645)Gag>Aag	p.E2215K	ITPR1_ENST00000357086.4_Missense_Mutation_p.E2182K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E2215K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E2167K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E2215K|ITPR1_ENST00000423119.2_Missense_Mutation_p.E2182K			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2230					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CCTAACCAAGGAGTCAAAACT	0.388000													5	38					0	0	0.001168	0	0
FAM73A	374986	broad.mit.edu	37	1	78279429	78279429	+	Silent	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:78279429G>A	ENST00000370791.3	+	6	680	c.648G>A	c.(646-648)ttG>ttA	p.L216L	FAM73A_ENST00000443751.2_Silent_p.L178L	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	216						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTATGGAATTGTTTGAAGAGG	0.388000													45	50					0	0	0.002852	0	0
ACSM5	54988	broad.mit.edu	37	16	20439173	20439173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:20439173C>T	ENST00000331849.4	+	7	1132	c.985C>T	c.(985-987)Cag>Tag	p.Q329*		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	329					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						GCTGCTTGTGCAGGAGGATCT	0.463000													6	231					0	0	0.001168	0	0
ZFP2	80108	broad.mit.edu	37	5	178358636	178358636	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:178358636A>T	ENST00000361362.2	+	5	852	c.322A>T	c.(322-324)Agc>Tgc	p.S108C	ZFP2_ENST00000520301.1_Missense_Mutation_p.S108C|ZFP2_ENST00000503510.2_Missense_Mutation_p.S108C|ZFP2_ENST00000523286.1_Missense_Mutation_p.S108C	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		TAATCAGTGCAGCAAAACCTT	0.373000													23	33					0	0	0.001882	0	0
MROH2B	133558	broad.mit.edu	37	5	41055916	41055916	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:41055916G>T	ENST00000399564.4	-	10	1411	c.961C>A	c.(961-963)Caa>Aaa	p.Q321K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CTTCTTACTTGTTCATCAAAA	0.403000													35	122					9.78485e-24	1.65479e-23	0.002836	1	0
CTNND2	1501	broad.mit.edu	37	5	11023077	11023077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr5:11023077G>A	ENST00000304623.8	-	17	2992	c.2803C>T	c.(2803-2805)Cga>Tga	p.R935*	CTNND2_ENST00000503622.1_Nonsense_Mutation_p.R598*|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.R502*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.R877*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.R844*|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	935					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ACTAGGTCTCGCATGGCGTAT	0.512000													63	74					0	0	0.003610	0	0
ABCB4	5244	broad.mit.edu	37	7	87056098	87056098	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr7:87056098G>A	ENST00000265723.4	-	16	2143	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	ABCB4_ENST00000358400.3_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000545634.1_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000453593.1_Nonsense_Mutation_p.Q678*|ABCB4_ENST00000359206.3_Nonsense_Mutation_p.Q678*	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	678					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AGGCTCTTCTGACACATTTGT	0.353000													27	39					0	0	0.006320	0	0
COQ9	57017	broad.mit.edu	37	16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567072.1_Missense_Mutation_p.P112S|COQ9_ENST00000567933.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					ubiquinone biosynthetic process	mitochondrion		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592000													6	199					0	0	0.001168	0	0
RNF39	80352	broad.mit.edu	37	6	30043359	30043359	+	Missense_Mutation	SNP	C	C	G	rs141667762		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr6:30043359C>G	ENST00000244360.6	-	1	305	c.208G>C	c.(208-210)Gat>Cat	p.D70H	RNF39_ENST00000376751.3_Missense_Mutation_p.D70H	NM_025236.3	NP_079512.2	Q9H2S5	RNF39_HUMAN	ring finger protein 39	70						cytoplasm	zinc ion binding										TCGGGCGCATCCATGGAAAGC	0.701000													19	33					0	0	0.008871	0	0
ZNF404	342908	broad.mit.edu	37	19	44376785	44376785	+	Silent	SNP	T	T	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr19:44376785T>C	ENST00000587539.1	-	3	1580	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF404_ENST00000324394.6_Silent_p.E525E	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				CCTTACCACATTCTTTGCATT	0.388000													19	15					0	0	0.007413	0	0
LTF	4057	broad.mit.edu	37	3	46482938	46482938	+	Silent	SNP	C	C	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:46482938C>A	ENST00000231751.4	-	14	1987	c.1692G>T	c.(1690-1692)gtG>gtT	p.V564V	LTF_ENST00000426532.2_Silent_p.V520V|LTF_ENST00000493056.1_5'UTR|LTF_ENST00000417439.1_Silent_p.V562V	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	564	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGACATCTTTCACAAATGCAA	0.403000													60	27					2.04494e-18	3.25117e-18	0.003610	1	0
KALRN	8997	broad.mit.edu	37	3	124390618	124390618	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr3:124390618C>T	ENST00000360013.3	+	48	6939	c.6812C>T	c.(6811-6813)gCg>gTg	p.A2271V	KALRN_ENST00000428018.2_Missense_Mutation_p.A542V|KALRN_ENST00000459915.1_Missense_Mutation_p.A363V|KALRN_ENST00000393496.1_Missense_Mutation_p.A612V|KALRN_ENST00000291478.4_Missense_Mutation_p.A574V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2270					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTGTTCCTGCGGGCTCAGAG	0.567000													20	151					0	0	0.007413	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687192	68687192	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr10:68687192C>T	ENST00000361320.4	+	2	1096	c.518C>T	c.(517-519)cCt>cTt	p.P173L	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	173						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AGAACCATCCCTGTGCGAATA	0.488000													17	195					0	0	0.007413	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325282	47325282	+	RNA	DEL	A	A	-	rs10712628		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:47325282delA	ENST00000505841.1	-	0	1204					NR_002788.2																						ATTTCAATCCAAACATAGCTG	0.393													7	49	---	---	---	---					
JTB	10899	broad.mit.edu	37	1	153949693	153949710	+	In_Frame_Del	DEL	CTGGGGGAGGCCAGGCCT	CTGGGGGAGGCCAGGCCT	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:153949693_153949710delCTGGGGGAGGCCAGGCCT	ENST00000271843.4	-	1	454_471	c.19_36delAGGCCTGGCCTCCCCCAG	c.(19-36)del	p.RPGLPQ7del	JTB_ENST00000368589.1_5'UTR|JTB_ENST00000356648.1_5'UTR|JTB_ENST00000471173.1_5'UTR	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	7					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding	p.P8P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGTGGCGGCCCTGGGGGAGGCCAGGCCTCCCGGCACCC	0.638													18	153	---	---	---	---					
COPA	1314	broad.mit.edu	37	1	160264643	160264662	+	Splice_Site	DEL	CTTCCCTACAGAGGGAAGGA	CTTCCCTACAGAGGGAAGGA	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:160264643_160264662delCTTCCCTACAGAGGGAAGGA	ENST00000241704.7	-	24	2706_2710	c.2476_splice	c.e24-1	p.826_splice	COPA_ENST00000368069.3_Splice_Site_p.835_splice	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	826					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTCCTCCCTTCCCTACAGAGGGAAGGAACAGAACGGA	0.491													16	100	---	---	---	---					
USH2A	7399	broad.mit.edu	37	1	216052268	216052268	+	Frame_Shift_Del	DEL	C	C	-	rs148433761		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr1:216052268delC	ENST00000366943.2	-	42	8782	c.8396delG	c.(8395-8397)gtfs	p.G2799fs	USH2A_ENST00000307340.3_Frame_Shift_Del_p.G2799fs			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2799	Fibronectin type-III 14.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTACCCATTACCCCCTGAGCA	0.443										HNSCC(13;0.011)			76	154	---	---	---	---					
SPTY2D1	144108	broad.mit.edu	37	11	18636297	18636298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:18636297_18636298insT	ENST00000336349.5	-	3	1758_1759	c.1523_1524insA	c.(1522-1524)atcfs	p.I508fs		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	508	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CTGGGACTGAATTACTGACAGT	0.559													33	76	---	---	---	---					
CPSF7	79869	broad.mit.edu	37	11	61179315	61179320	+	In_Frame_Del	DEL	GATGAG	GATGAG	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:61179315_61179320delGATGAG	ENST00000340437.4	-	8	1383_1388	c.1303_1308delCTCATC	c.(1303-1308)del	p.LI435del	CPSF7_ENST00000439958.3_In_Frame_Del_p.LI383del|CPSF7_ENST00000448745.1_In_Frame_Del_p.LI383del|CPSF7_ENST00000394888.4_In_Frame_Del_p.LI392del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	392	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TAAGAGAGGAGATGAGGACACGGCAA	0.524													29	82	---	---	---	---					
ME3	10873	broad.mit.edu	37	11	86152375	86152378	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:86152375_86152378delAAAG	ENST00000543262.1	-	15	2084_2087	c.1758_1761delCTTT	c.(1756-1761)tcfs	p.SF586fs	ME3_ENST00000359636.2_Frame_Shift_Del_p.SF586fs|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Frame_Shift_Del_p.SF586fs	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	586					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	TGTCCAGTGTAAAGGAGTCATAGT	0.510													54	157	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs34562444		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.230													2	4	---	---	---	---					
NR1H4	9971	broad.mit.edu	37	12	100934551	100934551	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr12:100934551delC	ENST00000548884.1	+	9	1562	c.1021delC	c.(1021-1023)cgfs	p.P341fs	NR1H4_ENST00000392986.3_Frame_Shift_Del_p.P345fs|NR1H4_ENST00000549996.1_Frame_Shift_Del_p.P294fs|NR1H4_ENST00000551379.1_Frame_Shift_Del_p.P355fs|NR1H4_ENST00000188403.7_Frame_Shift_Del_p.P351fs	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	355	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TAAGAAACTTCCGTCTGGGCA	0.398													30	81	---	---	---	---					
SRSF5	6430	broad.mit.edu	37	14	70238141	70238141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:70238141delC	ENST00000553521.1	+	9	2235	c.782delC	c.(781-783)tcfs	p.S261fs	SRSF5_ENST00000553635.1_Frame_Shift_Del_p.S258fs|SRSF5_ENST00000557154.1_Frame_Shift_Del_p.S261fs|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000394366.2_Frame_Shift_Del_p.S261fs			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	261	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						AGGTCCCGGTCCCGATCAAGG	0.463													70	348	---	---	---	---					
ATXN3	4287	broad.mit.edu	37	14	92560173	92560173	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr14:92560173delA	ENST00000545170.1	-	4	305	c.237delT	c.(235-237)gtfs	p.V79fs	ATXN3_ENST00000503767.1_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Frame_Shift_Del_p.V79fs|ATXN3_ENST00000532032.1_Frame_Shift_Del_p.V79fs|ATXN3_ENST00000340660.6_Frame_Shift_Del_p.V24fs|ATXN3_ENST00000429774.2_Frame_Shift_Del_p.V64fs|ATXN3_ENST00000502250.1_Intron	NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN	ataxin 3	79	Josephin.				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		CATTGCTTATAACCTGTTAAG	0.353													32	78	---	---	---	---					
LOC101927079	101927079	broad.mit.edu	37	15	22332412	22332413	+	RNA	INS	-	-	A			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:22332412_22332413insA	ENST00000558896.1	+	0	219_220																											TTGGCTTGATGAAAAAAAACAA	0.322													7	360	---	---	---	---					
SNHG14	104472715	broad.mit.edu	37	15	25414445	25414445	+	RNA	DEL	A	A	-	rs2739832	by1000genomes	TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr15:25414445delA	ENST00000549301.1	+	0	196				SNHG14_ENST00000553149.1_RNA																							GTGTGTTATGAGGGCAGGGAC	0.468													11	49	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578469	7578469	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr17:7578469delC	ENST00000420246.2	-	5	593	c.461delG	c.(460-462)gcfs	p.G154fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G154fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G154fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G154fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	154	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in a sporadic cancer; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> I (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(46)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.G61V(3)|p.G22V(3)|p.G154I(3)|p.T155_R156insDSTPPPGT(3)|p.G154fs*14(2)|p.P153fs*26(2)|p.P153fs*22(2)|p.T23_R24insDSTPPPGT(1)|p.P151_V173del23(1)|p.D148_T155delDSTPPPGT(1)|p.G154A(1)|p.D148fs*23(1)|p.T62_R63insDSTPPPGT(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.G154fs*22(1)|p.G154_R156delGTR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GACGCGGGTGCCGGGCGGGGG	0.607		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			95	50	---	---	---	---					
U2AF1	7307	broad.mit.edu	37	21	44513281	44513282	+	In_Frame_Ins	INS	-	-	CCG	rs144595259		TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chr21:44513281_44513282insCCG	ENST00000459639.1	-	7	1458_1459	c.434_435insCGG	c.(433-435)ggg>gCGGgg	p.144_145insA	U2AF1_ENST00000380276.2_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000291552.4_In_Frame_Ins_p.217_218insA|U2AF1_ENST00000398137.1_In_Frame_Ins_p.144_145insA			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cgccacctccaccaccgccacc	0.574			Mis		"""CLL, MDS"""								9	112	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106840889	106840890	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7374-01A-11D-2012-08	TCGA-CR-7374-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2cf33b63-464e-49a0-88f0-6a6d5b0393c4	72e73761-8b51-47b3-8dae-2c103d1c6c54	g.chrX:106840889_106840890insC	ENST00000276185.4	+	15	1879_1880	c.1879_1880insC	c.(1879-1881)ccgfs	p.P627fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	627						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						TGCCAGCAGGGCCCGGTCCTAC	0.545													36	41	---	---	---	---